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Dog — Care & Reference Manual

LLM-refined manual (v2 pipeline, kimi, 2026-08-04; docs/MANUAL_V2_DESIGN.md). This manual assembles the verified fact blocks in Pet Data Station that mention dog, organised along a pet owner's journey. Every quoted fact is reproduced verbatim from its cited first-hand source ([n] superscripts; see References, each tagged with a computed trust grade per docs/topic_grading_guide.md) and is independently checkable. Guide sections (checklists, red-flag box) are orientation prose in which every factual sentence carries its own [n]; derived-summary blocks from non-Open-Access sources keep their Paraphrased derived summary mark. Mis-sectioned, duplicate, off-topic and image-residue fragments were removed by the v2 builder (build-gate enforced).

Contents

1. Life-Stage Care
2. Is this pet right for you?
3. Daily & Weekly Care Checklist
4. Nutrition
5. Husbandry
6. Behavior & Training
7. Enrichment & Exercise
8. When to call a vet NOW
9. Health & Disease
10. Toxicology & Hazards
11. Grooming
12. Breeding & Spay/Neuter
13. Regulations & Legality
14. Costs & Responsibility
15. Japan-Specific
16. China-Specific
17. Breed Standards
18. Breed-Specific Health
19. Species-Specific Health
20. Appendix A — Commercial Food & Regulatory Notes
21. Appendix B — Research Evidence

Life-Stage Care

Young, adult and senior care for this species, drawn from first-hand care pages and veterinary references.

Dog — puppy life-stage care (leave-mother age, vaccine cadence, growth-feeding, breed-size adulthood)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Puppies can leave their mother at about 7–8 weeks old. [1]

Young puppies must be fed several times a day to meet the demands of growth. [1]

Adult dogs generally do well with one or two feedings per day. [1]

A dedicated rest space, typically a crate, helps with housetraining and other training. [1]

Many adult dogs also feel safe in a crate because it is their own space. [1]

Diets for different life stages (puppy, adult, senior) are available in stores and online. [1]

Most adult dogs should be fed 1–2 times a day, while puppies need more frequent meals. [1]

Too much exercise can be harmful, especially for out-of-shape, very young, or very old dogs. [1]

[Paraphrased derived summary — non-Open-Access source.] Life-stage diets (puppy, adult, senior) are sold widely. [2]

[Paraphrased derived summary — non-Open-Access source.] Senior dogs (over 7–8 years): twice a year or more. [2]

Is this pet right for you?

• They are social and dislike being alone: dogs are social and dislike being alone, and bored or lonely dogs can develop behaviour problems including destruction or self-injury. [2] [3]
• A daily-care commitment: puppies need a lot of care including vet visits, feeding, socialization, and training, and most dogs reach adulthood at 9–12 months (large and giant breeds can take almost 2 years). [3] [2]
• Space and shelter: a shelter should let the dog stand up and turn around, need a solid roof and sit off the ground to keep the dog dry, and outdoor dogs need a clean shelter that protects them from bad weather. [2] [4]
• Exercise is non-negotiable: dogs need regular exercise to stay healthy and avoid behaviour problems, but owners should avoid over-exercising, particularly in hot or humid weather. [2]
• Brachycephalic caution: flat-faced breeds such as French Bulldogs or Pugs may struggle with long exercise sessions but still benefit from shorter walks. [2]
• Good for companionship: dogs give companionship, purpose, and steady affection — valuable for those who are lonely, elderly, or disabled. [1]

Daily & Weekly Care Checklist

Every day:

• Feed to life stage: adult dogs generally do well with one or two feedings per day while puppies need more frequent meals; large breeds need at least two small meals per day to reduce bloat risk. [1] [2] [4]
• Fresh water: always give free access to fresh water unless a vet restricts it. [3] [4]
• Exercise and company: give regular exercise and daily social contact — outdoor dogs require steady attention and human contact to stay content and avoid behaviour problems. [2] [1]
• Hazard check: keep harmful chemicals such as cleaning supplies, antifreeze and certain plants away from pets, and keep electrical cords out of puppy reach. [2] [4]
• Watch for illness: signs a dog may be sick include reduced appetite, low energy, vomiting or diarrhoea, changed urination, coughing or sneezing, discharge from eyes/ears/nose, hair loss, excessive itching, red skin spots, or limping — if any last more than a day or two, book a vet visit. [5]

Every week:

• Grooming: regular toothbrushing supports dental health and regular brushing removes loose hair and prevents mats (especially for thick- or long-furred dogs). [4]

Every year:

• Annual check-up: adult dogs should have a full check-up at least once a year; senior dogs (over 7–8 years) benefit from twice-a-year or more visits. [2] [3]
• Preventives: dogs should be tested for heartworm yearly and given prevention medicine year-round, and core vaccines prevent distemper, parvovirus and rabies. [2]

Nutrition

Pick foods with the AAFCO adequacy statement; adult dogs do well with 1–2 feeds per day, large breeds need at least two small meals to lower bloat risk, table scraps should never exceed 10% of daily calories, and overfeeding causes obesity. [3] [2]

The quotes below summarise this species' dietary requirements and nutrition-related disease risks, drawn from professional veterinary references.

Dog nutrition — dietary needs, standards, and feeding practices (Merck Vet Manual)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Good nutrition underpins dog health. [2]

Pick foods with the AAFCO adequacy statement. [2]

Dry food generally beats canned for dental health at equal nutrition. [2]

Some therapeutic diets (for obesity or allergies) are available only through veterinarians. [2]

Adult dogs: 1–2 feeds per day; puppies need more frequent meals. [2]

Large breeds: at least two small meals per day to reduce bloat risk. [2]

Table scraps should be limited and never exceed 10% of daily calories. [2]

Always give free access to fresh water unless a vet restricts it. [2]

Overfeeding causes obesity and other health problems. [2]

For most breeds, ribs and spine should be felt, not seen. [2]

Cold-weather outdoor dogs need twice as many calories to keep warm. [2]

Feed double the usual high-quality amount in smaller meals to avoid digestive upset. [2]

[Paraphrased derived summary — non-Open-Access source.] Give free access to fresh water unless a vet restricts it. [4]

[Paraphrased derived summary — non-Open-Access source.] Choose foods carrying the AAFCO statement of nutritional adequacy. [3]

Husbandry

A crate helps with housetraining and many adult dogs feel secure in their own space; dogs are social and dislike being alone, so give daily company and a shelter that lets them stand, turn around, and stay dry. [2] [3]

Housing, environment and daily-care essentials for this species.

Dog husbandry — housing, exercise, preventive care, and home safety (Merck Vet Manual)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Puppies benefit from a dedicated rest or sleep space, usually a crate, which aids house-training and other training. [2]

Many adult dogs also feel secure in a crate because it is their own space. [2]

Remember that dogs are social and dislike being alone. [2]

A shelter should let the dog stand up and turn around. [2]

A shelter needs a solid roof and should sit off the ground to keep the dog dry. [2]

Dogs need regular exercise to stay healthy and avoid behaviour problems. [2]

Owners should avoid over-exercising, particularly in hot or humid weather. [2]

Brachycephalic breeds such as French Bulldogs or Pugs may struggle with long exercise sessions but still benefit from shorter walks. [2]

Bored or lonely dogs can develop behaviour problems, including destruction or self-injury. [2]

Adult dogs: a full checkup at least once a year. [2]

Dogs should be tested for heartworm yearly and given prevention medicine year-round. [2]

Good dental care helps prevent plaque and tartar that lead to gum disease, just as in people. [2]

All dogs should be spayed or neutered unless they are being bred. [2]

Puppies can leave their mother at about 7–8 weeks of age. [2]

Most dogs reach adulthood at 9–12 months, but large and giant breeds can take almost 2 years. [2]

Behavior & Training

Socialization matters most between 2 and 4 months of age, and every dog should learn basic cues such as "sit," "stay," and "come" — training is an enjoyable bonding activity that also teaches good conduct. [1]

Socialisation, bonding, play and preventing boredom / behaviour problems.

Dog — puppy behavior & training (socialization window, basic commands, bonding, boredom-linked problems)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Socialization matters most between 2 and 4 months of age. [1]

Regular contact with people and other animals accustoms puppies to new situations and lowers later fear or behavior issues. [1]

Every dog should learn basic cues such as "sit," "stay," and "come." [1]

Training is an enjoyable bonding activity that also teaches good conduct. [1]

Training help is widely available, from books to local puppy classes. [1]

Pet ownership fosters a strong human–animal bond with social and health upsides. [1]

Owners often see lower stress, blood pressure, anxiety, and depression. [1]

Dogs give companionship, purpose, and steady affection — valuable for those who are lonely, elderly, or disabled. [1]

Such dogs need particular shelter, food, and social contact. [1]

Dogs are social and dislike isolation. [1]

Outdoor dogs require steady attention and human contact to stay content and avoid behavior problems. [1]

[Paraphrased derived summary — non-Open-Access source.] Socialisation matters most between 2 and 4 months of age. [2]

[Paraphrased derived summary — non-Open-Access source.] Puppies need a lot of care, including vet visits, feeding, socialization, and training. [1]

[Paraphrased derived summary — non-Open-Access source.] A balanced, wiry-haired toy dog with a terrier-like, monkey-like look, originating in Germany; AKC treats it as a Toy breed, while FCI places it in Group 2 (Pinscher and Schnauzer), Section 1, as a house and companion dog. [6]

[Paraphrased derived summary — non-Open-Access source.] FCI disqualifying faults include aggression or extreme shyness, any physical or behavioural abnormality, malformation, lack of breed type, a scissor or wry mouth, and over- or undersize beyond 2 cm. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults include aggression or excessive shyness, nose/lips/eyelids not black or dark brown, light or blue eyes, rose ears, and size deviating more than 3 cm from the FCI standard. [6]

[Paraphrased derived summary — non-Open-Access source.] Faults that lead to elimination are an aggressive or excessively shy attitude, and any dog that plainly shows a physical or behavioural abnormality. [7]

[Paraphrased derived summary — non-Open-Access source.] The stated temperament is that of an impassioned hunter which is also a sociable, affectionate and equable companion. [7]

[Paraphrased derived summary — non-Open-Access source.] The temperament is extremely affectionate, neither quarrelsome with companions nor with other dogs. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament is flexible and gentle, with an even disposition, well adapted to family life, placid and never aggressive. [7]

[Paraphrased derived summary — non-Open-Access source.] The FCI registers it as standard N° 196 in Group 9 (Companion and Toy Dogs). [7]

[Paraphrased derived summary — non-Open-Access source.] Aggressive or overly shy dogs, or those with physical or behavioural abnormalities, are disqualified. [6]

[Paraphrased derived summary — non-Open-Access source.] It is classified in FCI Group 9 (Companion and Toy). [6]

[Paraphrased derived summary — non-Open-Access source.] It is classified in FCI Group 1 (Herding and companion). [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament is gay, friendly and non-aggressive, with no nervousness or shyness. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament is balanced and non-aggressive. [6]

[Paraphrased derived summary — non-Open-Access source.] By nature it is cheerful and good-natured and shows a smart look; extreme shyness or aggression is unwanted. [6]

[Paraphrased derived summary — non-Open-Access source.] It is classified in FCI Group 9 (Companion and Toy Dogs). [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is affectionate and playful, a devoted family companion especially fond of children; dignified, willing and eager to please, gregarious with other dogs, though reserved with strangers but never shy or aggressive. [6]

[Paraphrased derived summary — non-Open-Access source.] In character the breed is self-assured, steady and proud; at home it is an active, intelligent and gentle companion, while in the field it is a stubborn, enduring hunter and may seem aloof. [6]

[Paraphrased derived summary — non-Open-Access source.] FCI disqualifying faults: aggressive or overly shy dogs, and any dog clearly showing physical or behavioural abnormalities. [6]

[Paraphrased derived summary — non-Open-Access source.] The standard pictures an ancient guardian breed, vigilant and very courageous but not aggressive. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults include aggression or shyness, a long narrow head, a muzzle parallel to or downfaced from the skull, blue or bulging eyes, a screw/kinked/atrophied tail, a fiddle front or inverted hock, and any coat colour other than fawn (including brindle or chocolate) or white on the head/body. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults include aggression or shyness, clear physical or behavioural abnormality, a blue eye, a pronounced over- or undershot bite, a kinked or deformed tail, a predominant white/merle/liver-brown coat, and being under- or oversized. [7]

[Paraphrased derived summary — non-Open-Access source.] The breed is described as merry and affectionate, of equable disposition, a willing worker and faithful companion. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is friendly, happy and biddable, eager to please, quick to learn and willing to obey; aggression or excessive timidity is unacceptable. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: aggressive or extremely timid dogs, or any with clear physical or behavioural defects. [6]

[Paraphrased derived summary — non-Open-Access source.] The dog is a close companion of shepherds and a faithful guardian of flocks against predators and thieves. [7]

[Paraphrased derived summary — non-Open-Access source.] The temperament is keen, birdy and determined, a resourceful retriever on land and water and a friendly family companion. [6]

[Paraphrased derived summary — non-Open-Access source.] FCI classifies it in Group 9 (Companion and Toy Dogs). [6]

[Paraphrased derived summary — non-Open-Access source.] The breed is balanced, frank, gentle, calm and docile, an enthusiastic hunter and ideal companion. [7]

[Paraphrased derived summary — non-Open-Access source.] Temperament is sound and reliable; the dog may be aloof but not unfriendly with strangers, and is a loyal, affectionate, eager-to-please companion. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament should be spirited, courageous, friendly and dependable — never timid or aggressive. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is even-tempered, affectionate and loyal; a versatile, trainable companion suited to family life, obedience, tracking and lure-coursing. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament reflects its heritage as a family companion, guardian and hunter. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults include a non-black nose, a decidedly overshot or undershot jaw, and any colour outside the red/wheaten range; aggression, shyness or clear physical or behavioural abnormality also disqualify. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is alert, curious and active, stable and humorous, proud and loyal, though reserved with strangers; the AKC notes it is never aggressive or shy. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is courageous and hard, fond of work, enduring, lively, reliable, sociable and trainable, neither shy nor aggressive. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults include aggression or extreme shyness, physical or behavioural abnormality, an untypical dog, bite faults (over/undershot, wry, pincer, cross-bite, irregularly placed or missing teeth except M3), wrong pigmentation, entropion/ectropion or odd-coloured/blue/spotted eyes, any departure from the stated coat colour, and over- or undersize. [7]

[Paraphrased derived summary — non-Open-Access source.] A small, balanced and merry toy dog; the AKC treats it as a companion breed, while the FCI files it under Group 9, the Companion and Toy Dogs group, in Section 8, the Japan Chin and Pekingese section (standard 206). [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is that of a gentle, clever toy dog kept purely as a human companion; the FCI calls it clever, mild and charming. [6]

[Paraphrased derived summary — non-Open-Access source.] FCI disqualifies aggressive or extremely timid dogs, any clear physical or behavioural defect, a wry lower jaw, and tricolour. [6]

[Paraphrased derived summary — non-Open-Access source.] A Japanese companion breed (FCI standard 262) in Group 5 (Spitz and primitive type), Section 5, the Asian Spitz and related breeds, without a working trial; it descends from large white German Spitz brought to Japan around 1920, with the standard fixed by the Japan Kennel Club in 1948. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: aggressive or extremely timid dogs, any clear physical or behavioural defect, drop (pendant) ears, or a tail not carried on the back. [7]

[Paraphrased derived summary — non-Open-Access source.] Temperament is of primary importance: the breed is described as neither timid nor aggressive, alert and friendly. [6]

[Paraphrased derived summary — non-Open-Access source.] AKC rules disqualify a dog with blue eyes, a nose of flesh colour, or the loss of three or more teeth. A coat that fails to cord before the age of two, plus smooth short fur on the head and legs, also bars it, as does any coat colour that is not white (tiny cream or buff patches are permitted only on young puppies). FCI adds its own bars: dogs that are aggressive or extremely shy, those with an obvious physical or behavioural fault, a soft flabby body, turned-in or turned-out eyelids, a jaw that is overshot, undershot or wry, erect or pale ears, a short tail, heavy coarse limbs, a coat not ivory or of mixed colour, or a height below the minimum. [6]

[Paraphrased derived summary — non-Open-Access source.] The Lhasa Apso originates in Tibet (China) and is classified by the FCI in Group 9 (Companion and Toy Dogs), Section 5 (Tibetan breeds). [6]

[Paraphrased derived summary — non-Open-Access source.] The breed arose around the central Mediterranean and is grouped by the FCI with bichons and related companions (Group 9, Section 1). [6]

[Paraphrased derived summary — non-Open-Access source.] Severe faults include heights outside 19–26 cm for males and 18–25 cm for females; disqualifying faults cover aggression or shyness, a roman nose, undershot mouth, wall eye, loss of nose or eyelid pigment, a missing or shortened tail, a frizzy coat, and any colour other than white (pale ivory apart). [6]

[Paraphrased derived summary — non-Open-Access source.] The Nederlandse Kooikerhondje originates in The Netherlands and is used as a sporting and companion dog for duck decoying. [6]

[Paraphrased derived summary — non-Open-Access source.] The breed is described as a friendly, alert and intelligent companion, with 42 teeth in the full dentition. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is alert, gregarious, fearless and loyal, never aggressive; FCI adds that it is a "demon" for its size, lovable and hardy. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: aggressive or overly shy dogs, and any dog showing clear physical or behavioural abnormality. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is adaptable, clever and even-tempered, showing neither aggression nor shyness. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: aggressive or excessively timid dogs, or any animal with obvious physical or behavioural defects. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying conditions are aggression, extreme shyness, or any clear physical or behavioural abnormality. [6]

[Paraphrased derived summary — non-Open-Access source.] The described temperament is happy, alert and friendly, neither shy nor aggressive. [6]

[Paraphrased derived summary — non-Open-Access source.] Under FCI classification the breed is placed in Group 9 Companion and Toy Dogs. [6]

[Paraphrased derived summary — non-Open-Access source.] The breed's declared utilization is Companion Dog. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament is bold yet kindly, never shy or vicious; FCI describes it as outgoing and friendly, never nervous or aggressive, and an excessively shy dog is dismissed. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults are aggression or extreme shyness and clear physical or behavioural abnormality (FCI); AKC also very seriously faults button/rose/drop ears, overshot or undershot bite, and "fluffy" coats. [6]

[Paraphrased derived summary — non-Open-Access source.] Faults are a deviated jaw, albinism, aggressiveness, and dewclaws on the hindquarters; the standard gives no disqualifying conditions. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament: an even, alert, congenial and dignified companion that is never timid; FCI describes it as aristocratic, kind and even in disposition. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications (FCI): an aggressive or overly shy dog, or any dog clearly showing physical or behavioural abnormality; males should have two apparently normal testicles fully descended. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: blue or yellow (bird-of-prey) eyes, and an overshot or undershot bite. FCI also disqualifies aggressive or overly shy dogs and any dog clearly showing physical or behavioural abnormality; males should have two normal descended testicles. [6]

[Paraphrased derived summary — non-Open-Access source.] Its stated use is as a watch and companion dog. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament is outgoing and lively, showing high intelligence and a vivacious spirit, making a fine companion and show dog; it is neither timid nor aggressive, and is attentive and devoted to its owner. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications include eyes that are pale blue, blue-marbled or blue-flecked (AKC); FCI also excludes aggression or extreme shyness, clear physical or behavioural abnormality, a fontanel gap, overbite/underbite/crossbite, ectropion or entropion, ears not fully erect, definite white markings on non-white dogs, and any off-list colour. [6]

[Paraphrased derived summary — non-Open-Access source.] Origin and group: a Portuguese hunting dog (the Warren Hound), also used as watch and companion; AKC, and under FCI it is in Group 5 (Spitz and primitive types), Section 7 for the primitive hunting dogs, shown without a working trial. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: AKC — over 28 in or under 16 in; hanging ears; and a tail curled in a ring touching the back. FCI also disqualifies aggressive or overly shy dogs, clear physical or behavioural abnormality, signs of crossbreeding, an undershot or overshot mouth, eyes of different colours, folded or hanging ears, and brindle, black-and-tan, tricolour or totally white colour; males should have two normal descended testicles. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament is exceptionally intelligent and very lively, devoted to the shepherd and flock yet wary of strangers and alert at night; it makes a good companion, sporting and guard dog, keeps livestock together, finds strays, and warns of predators, working with evident enjoyment. [7]

[Paraphrased derived summary — non-Open-Access source.] The breed's traditional work is helping with fishing and retrieving, as well as acting as a companion dog. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: aggressive or overly shy dogs, clear physical or behavioural abnormality, a fully depigmented nose, unacceptable or over-20% white markings, an overshot mouth, a croup lower than the withers or sloping topline, blue or mismatched eyes, and a cropped tail. [7]

[Paraphrased derived summary — non-Open-Access source.] Temperament is calm and self-controlled, even, with a clear hunting instinct and no gun or game shyness; shyness and aggression are faults. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: aggressive or extremely timid dogs; any physical or behavioural defect; weak temperament (gun/game shyness, nervousness, fear biting); over/undershot or wry bite, missing teeth beyond P1; entropion/ectropion; short coat; lack of beard; or any colour outside the listed ones. [7]

[Paraphrased derived summary — non-Open-Access source.] A Chinese breed (FCI patronage Great Britain), FCI standard 253, in Group 9 (Companion and Toy Dogs), Section 11, the Small Molossian type dogs, without a working trial. [6]

[Paraphrased derived summary — non-Open-Access source.] FCI disqualifies aggressive or extremely timid dogs and any with clear physical or behavioural defects. [6]

[Paraphrased derived summary — non-Open-Access source.] AKC disqualifies any dog that clearly shows physical or behavioural abnormality; FCI adds disqualifications for aggression or strong shyness, missing teeth, overshot or undershot bite or wry mouth, a sickle or horizontal tail carriage, short or smooth coat, colour faults or unwanted markings, and size outside the stated limits. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications include height more than ½ inch outside the range, prick or hanging ears, and any multicolour pattern or patches (such as black-and-tan, piebald or parti-colour); FCI also disqualifies aggressive or overly shy dogs, clear physical or behavioural abnormality, a round Puli-like head, strongly defined stop, missing teeth, faulty mouth, and a smooth or multicoloured coat. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament makes an excellent farm and estate watchdog and a useful livestock protector, more alert at night and serious when guarding; it shows a calm, confident manner, neither aggressive nor shy. [7]

[Paraphrased derived summary — non-Open-Access source.] Origin and type: an American farm dog originally bred for ratting and farm work, a sturdy, compact, small-to-medium, parti-coloured companion that is slightly longer than tall and capable of hunting vermin above and below ground. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament: keenly observant, devoted and full of energy yet easily trained and obedient; a non-sparring breed, generally friendly with other dogs but may be reserved with strangers, with overt aggression or excessive shyness penalized. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is even-tempered at home yet an aggressive hunter; the breed takes to formal training and makes a pleasant family dog. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament: dignified and even-tempered, devoted and affectionate to its owner but reserved with strangers; FCI describes it as intelligent and aloof with strangers, showing no aggression or shyness. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: ridgelessness; solid black; and a black-and-tan or brown-and-tan pattern on a dog with a brown or liver nose. FCI also disqualifies aggressive or overly shy dogs and any dog clearly showing physical or behavioural abnormality; males should have two normal descended testicles. [6]

[Paraphrased derived summary — non-Open-Access source.] Its declared job is a capable herding dog, a trustworthy and unbribable guardian, and a good companion. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: aggressive or extremely shy dogs; any obvious physical or behavioural defect; untypical subject; missing incisors or canines; overshot or undershot bite; albinism; a naturally short or absent tail or a docked tail; males under 68 cm or females under 63 cm. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: AKC — entropion or ectropion; overshot, undershot or wry mouth; two or more missing teeth; unilateral or cryptorchid males; long coat; any base colour other than black; absence of all markings; a dog that attacks a person in the ring. FCI also disqualifies aggressive or overly shy dogs, physical or behavioural abnormality, anxious/shy/cowardly/vicious animals, reversal of sexual type, missing tooth, yellow or different-coloured eyes, kink/ring/natural bobtail, and a wavy coat; males should have two normal descended testicles. [6]

[Paraphrased derived summary — non-Open-Access source.] Under FCI the breed sits in Group 9, the Companion and Toy division, within Section 9 covering Continental Toy Spaniels and Russian Toys, and is shown without working trial; its role is Companion Dog (standard no. 352). [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is active, cheerful, keenly intelligent and a little aloof with strangers, but neither cowardly nor aggressive; timid behaviour is a fault. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: height above 12 or below 7 inches, weight under 2 lb, fully hanging ears, overshot or undershot bite, loss of a canine, brindle markings, and (in long-coated dogs) missing ear fringes with curly hair. FCI also disqualifies aggressive or overly shy dogs, clear physical or behavioural abnormality, short-legged or massively chested dogs, and sizes outside 18–29 cm or weights outside 1.5–3 kg. [6]

[Paraphrased derived summary — non-Open-Access source.] It was not developed for any specific working purpose; its natural qualities make it a faithful and reliable companion and house dog. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults are aggression or extreme shyness, clear physical or behavioural abnormality, lack of breed type, and any coat colour outside the permitted range. [7]

[Paraphrased derived summary — non-Open-Access source.] The temperament is reserved with strangers but neither nervous nor aggressive, and is described as dignified, intelligent and independent. [6]

[Paraphrased derived summary — non-Open-Access source.] FCI records it as standard N° 212 with the Nordic Kennel Union as patron; it is used as both a sledge dog and a companion (FCI). [6]

[Paraphrased derived summary — non-Open-Access source.] The disposition is intelligent, gentle, loyal, adaptable and alert, full of action and eager to serve, friendly yet reserved rather than shy or overly aggressive; unprovoked aggression is severely penalized (AKC). [6]

[Paraphrased derived summary — non-Open-Access source.] The FCI temperament is friendly, open, lively and alert, with only a slight hunting drive; it is never shy or aggressive, very social, and unsuitable as a guard dog (FCI). [6]

[Paraphrased derived summary — non-Open-Access source.] Eliminating faults under the FCI include an aggressive or excessively shy nature, obvious physical or behavioural abnormalities, blue or unevenly coloured eyes, overshot or undershot bite, ears that are not erect, and any non-permitted coat colour (FCI). [6]

[Paraphrased derived summary — non-Open-Access source.] Origin and group: a Belgian breed whose Flemish name means "little shepherd"; AKC companion-type, FCI Group 1 (sheep and cattle dogs), Section 1 Sheepdog, without working trial. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: AKC — a drop ear or ears, or any colour other than natural black. FCI adds aggressive or overly shy dogs, physical or behavioural abnormality, lack of breed type, over- or undershot jaw, loss of nose/lip/eyelid pigment, falling or semi-erect ears, a long/soft/silky coat, a non-black topcoat (except minor grey/brownish/reddish tones or tiny white spots), and weight clearly outside the limits; males should have two normal descended testicles. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament: alert, spirited yet stable and steady-going; a determined, thoughtful dog that is gentle with people but can be aggressive toward other dogs (the "Diehard"); FCI adds loyal, faithful, dignified, independent, reserved, courageous and intelligent, bold but never aggressive. [6]

[Paraphrased derived summary — non-Open-Access source.] Faults and disqualifications: constant pacing is a fault, and convergent cranio-facial axes or size outside the margins are severe faults. Disqualifying faults include aggressive or overly shy dogs, any clear physical or behavioural abnormality, a concave muzzle, loss of pigment on the nose, lip rims or eyelids, a wall eye, an overshot mouth, a absent or short tail, and slate/lead, brindle, coffee, brown, liver or predominant-white colour; males should have two normal descended testicles. [7]

[Paraphrased derived summary — non-Open-Access source.] The FCI standard is number 88; its declared utilization is Companion dog and Sheepdog, and under FCI it sits in Group 1 (sheepdogs and cattle dogs), Section 1, shown without a working trial. [6]

[Paraphrased derived summary — non-Open-Access source.] Origin: the smallest of Japan's native dog breeds, first developed to hunt by sight and scent through the dense undergrowth of mountainous regions; alert, agile and keen-sensed, it also makes a good watchdog and companion. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament: a blend of spirited boldness, good nature and unaffected straightforwardness that yields dignity; independent and reserved with strangers but loyal and affectionate to those it trusts, sometimes aggressive toward other dogs. Aggression toward handler or judge, or obvious shyness, is severely penalized. [6]

[Paraphrased derived summary — non-Open-Access source.] The breed's background is noble Chinese palace-companion ancestry; the FCI records origin as Tibet (China) with Great Britain as patron. [6]

[Paraphrased derived summary — non-Open-Access source.] It is placed in FCI Group 9, the companion and toy dogs, under Section 5 for the Tibetan breeds, shown without a working trial; its listed utilization is Companion Dog. [6]

[Paraphrased derived summary — non-Open-Access source.] The standard states the breed exists solely as a companion and house pet, so its temperament must be outgoing, happy, affectionate, friendly and trusting toward all. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults are aggressive or overly shy behaviour, and any dog showing clear physical or behavioural abnormality. [6]

[Paraphrased derived summary — non-Open-Access source.] The temperament is friendly and gentle yet alert and outgoing; the breed lacks the guarding, possessive instinct, is not overly suspicious of strangers or aggressive with other dogs, and shows intelligence, tractability and an eager disposition. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications cover males over 23½ inches and females over 22 inches (FCI over 60 cm and 56 cm) and merle or brindle coat patterns; FCI also bars aggression or extreme shyness and clear physical or behavioural abnormality. [6]

[Paraphrased derived summary — non-Open-Access source.] FCI assigns it to Group 3 (Terriers), Section 4 for toy terriers, without working trial; its role is a toy terrier and companion. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: aggressive or overly shy dogs and any dog with clear physical or behavioural abnormality; serious faults include light eyes, a roached or dipped topline, and an undershot or overshot bite. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: a Dudley, flesh-coloured or brown nose (AKC). FCI also disqualifies aggressive or overly shy dogs and any dog clearly showing physical or behavioural abnormality; males should have two normal descended testicles. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is happy, steady and self-confident, alert and less aggressive than many terriers; FCI adds spirited, game, affectionate, loyal and intelligent, defensive without aggression. [6]

[Paraphrased derived summary — non-Open-Access source.] Major faults include a non-black nose, undershot or overshot bite, a yellow eye, a coat not clearly wheaten, and timid or overly aggressive behaviour; FCI also disqualifies aggressive or overly shy dogs, clear physical or behavioural abnormality, yellow eyes, woolly or cottony hair, and a white or brown coat. [6]

[Paraphrased derived summary — non-Open-Access source.] Its traditional working roles, per FCI, are as a herding dog, a hunter's companion, and a helper to fishermen. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults include tricolour, tan-point or parti-colour without white, albino, and a smooth or wavy coat; FCI further excludes aggressive or very shy dogs, any clear physical or behavioural abnormality, jaw overshot or undershot, dewclaws, tan-patterned black or chestnut coats, and a lack of balanced character. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications include walleye (pale/blue/fish/pearl iris), nose pigment other than described or total depigmentation, overshot or undershot bite, any black skin pigment, and any black in the coat, tricolour or tan points; FCI also excludes aggression or extreme shyness, convergent upper head axes, concave nasal bridge and wall eye. [6]

[Paraphrased derived summary — non-Open-Access source.] Its stated use is as a companion, watch and farm dog. [7]

[Paraphrased derived summary — non-Open-Access source.] Eliminating faults include aggression or extreme shyness, clear physical or behavioural abnormality, weak temperament, overshot or distinctly undershot mouth, wall eye, ectropion or entropion, a solid white or solid reddish-brown coat, any off-standard colour or flesh-coloured nostrils, and height below the minimum. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications: AKC — males under 18 in or over 20 in, females under 17 in or over 19 in, and vicious dogs. FCI-style disqualifications also cover aggressive or overly shy dogs, clear physical or behavioural abnormality, a faulty (over-/undershot or wry) mouth, and oversize beyond tolerance; males should have two normal descended testicles. [6]

[Paraphrased derived summary — non-Open-Access source.] The AKC standard states there are no disqualifications; FCI disqualifies aggressive or overly shy dogs and any dog showing clear physical or behavioural abnormality. [6]

[Paraphrased derived summary — non-Open-Access source.] Under FCI it is a Group 5 breed (the Spitz and primitive types), placed in Section 3, Nordic Watchdogs and Herders, and kept today mostly as an all-round companion, with no working trial. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults are aggression or extreme shyness, physical or behavioural abnormality, and an untypical dog. [7]

[Paraphrased derived summary — non-Open-Access source.] The standard characterises the temperament as It is watchful and energetic yet fearless, intelligent and friendly, eager to please, steady and active — well suited both to herding and to companionship. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifying faults listed in the standard include: Aggressive or overly shy dogs. [6]

[Paraphrased derived summary — non-Open-Access source.] A Thai breed of FCI Group 5 (Spitz and primitive type), Section 5 Asian Spitzes, kept as a companion dog without a working trial; its origins trace to Bangkaew village in Phitsanulok province. [7]

[Paraphrased derived summary — non-Open-Access source.] Severe faults are losing more than three teeth or an all-white coat; disqualifying faults include aggression or extreme shyness, physical or behavioural abnormality, overshot/undershot bite, drop ears, a natural stub or curled/kinked tail, a short or smooth coat, and a solid coat with only slight white. [7]

[Paraphrased derived summary — non-Open-Access source.] The FCI standard lists the Thai Ridgeback's utilization as Hunting and companion dog. [7]

[Paraphrased derived summary — non-Open-Access source.] A Tibetan breed (origin Tibet/China; FCI patronage Great Britain); despite the name it is not a true terrier but a herding and guard dog, long regarded as the Holy Dog of Tibet. FCI standard 209 places it in Group 9 (Companion and Toy Dogs), Section 5 (Tibetan breeds), with no working trial. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is marked by patience, composure, boldness and courage. Disqualifying faults include aggression or extreme shyness, any clearly abnormal physical or behavioural trait, and a severely overshot or undershot bite. [7]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications include aggressive or overly shy dogs, clear physical or behavioural abnormality, a head that is too narrow, long or rounded, a faulty stop or short muzzle, a faulty bite, terrier- or sighthound-like ears, a wiry, soft, wavy or sparse coat, and brown or blue colour with markings. [7]

[Paraphrased derived summary — non-Open-Access source.] An Italian Spitz, FCI Group 5 (Spitz and primitive type), Section 4 European Spitz, kept as a guard and companion dog without a working trial. [7]

[Paraphrased derived summary — non-Open-Access source.] The temperament is friendly, fearless, alert and obedient; FCI adds that it is a versatile, easily trained, steady hunting dog and a good watchdog without aggressiveness. [6]

[Paraphrased derived summary — non-Open-Access source.] Disqualifications include a height deviation of more than one inch, a distinctly long coat, and a distinctly blue or black coat (AKC); FCI also excludes aggression or extreme shyness, clear physical or behavioural abnormality, type or proportion deviation, size more than 2 cm off, non-grey colouring, entropion or ectropion and other serious faults. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is game, alert and spirited yet friendly and self-controlled; FCI also describes the dog as affectionate, obedient, happy, rarely shy, fearless but not aggressive. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament is amiable, friendly and gentle, yet capable of great intensity when working; FCI calls it an ideal, adaptable, gentle and affectionate companion. [6]

[Paraphrased derived summary — non-Open-Access source.] AKC disqualifications: more than ½ inch above or below the height limits, blue or partly blue eyes or eyes of mismatched colour, undershot bite, overshot bite of ¼ inch or more, and any coat other than short, close, smooth and firm; FCI also disqualifies aggressive or overly shy dogs and clear physical or behavioural abnormality. [6]

[Paraphrased derived summary — non-Open-Access source.] Temperament and disqualifications: the breed should be alert and quick in movement, with an intelligent expression and an air of expectancy at the least sign of provocation. Disqualifications are prick, tulip or rose ears; a white, cherry or largely spotted nose; and a mouth that is much undershot or much overshot. FCI also disqualifies aggressive or overly shy dogs and any dog clearly showing physical or behavioural abnormality; males should have two normal descended testicles. [6]

[Paraphrased derived summary — non-Open-Access source.] Origin and type: an ancient Mexican breed shaped by evolution rather than selective breeding, serving today as a guard and companion; moderate in all aspects, never extreme, combining elegance and strength. [6]

[Paraphrased derived summary — non-Open-Access source.] A long-coated toy terrier originating in Great Britain; AKC places it in the Toy Group and FCI in Group 3 (Terriers), Section 4 Toy Terriers, as a companion dog. [6]

[Paraphrased derived summary — non-Open-Access source.] Puppies need much care: vet visits, feeding, socialization, and training. [3]

"Any dog that, when unprovoked, in an aggressive manner, inflicts severe injury on or kills a human being." [8]

"What is considered a pet? A pet is a privately owned companion animal not intended for research or resale and includes only certain animal groups." [9]

"As used in this section, "attack" means to attack or respond aggressively, either with or without command." [10]

Dangerous dog" means any dog that (a) inflicts severe injury on a human being without provocation on public or private property, (b) kills a domestic animal without provocation while the dog is off the owner's property, or (c) has been previously found to be potentially dangerous because of injury inflicted on a human, the owner having received notice of such and the dog again aggressively bites, attacks, or endangers the safety of humans." [11]

Enrichment & Exercise

Toys, foraging, hiding and exercise to prevent boredom.

Dog — exercise & enrichment (regular exercise prevents behavior problems; brachycephalic caution; don't overdo)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Regular exercise keeps dogs healthy and avoids behavior problems. [3]

Brachycephalic breeds tire on long sessions but benefit from short walks. [3]

Avoid overdoing exercise, especially in hot or humid weather. [3]

Well-exercised dogs are generally healthier and happier. [3]

Excess exercise can harm unfit, very young, or very old dogs. [3]

Chewing puppies are especially at risk of ingesting household toxins. [3]

Keep electrical cords out of puppy reach. [3]

Bitter-tasting sprays (e.g., bitter apple) on cords discourage chewing. [3]

When to call a vet NOW

• Any sick signs lasting 1–2 days: reduced appetite, low energy, vomiting or diarrhoea, changed urination, coughing, discharge, hair loss, excessive itching, or limping — book a vet visit if any last more than a day or two. [5]
• Never give human NSAIDs: ibuprofen is a human-specific NSAID that should not be given to companion animals; in toxic amounts it causes gastrointestinal ulceration, kidney impairment and neurological signs. [12]
• Hops are deadly: ingestion of used brewing hops by dogs can cause rapid-onset, life-threatening high fever with panting, racing heart rate, vomiting, seizure and death — call a vet immediately. [13]
• Sago palm is lethal: sago palm/cycad is toxic to dogs and causes liver failure and death — call a vet if ingested. [14]

Health & Disease

Older dogs are more prone to illness and need to see the vet more often; a vet may suggest blood tests or x-rays to catch problems early, and core vaccines prevent distemper, parvovirus and rabies. [5]

Common conditions and their clinical signs, drawn from professional veterinary references. If you notice worrying signs, contact a species-experienced veterinarian promptly.

Dog health — routine veterinary care, vaccines, parasites, dental, and signs of illness (Merck Vet Manual)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Older dogs are more prone to illness and need to see the vet more often. [5]

A vet may suggest blood tests or x-rays to catch problems early. [5]

Signs a dog may be sick include reduced appetite, low energy, vomiting or diarrhoea, changed urination, coughing or sneezing, discharge from eyes/ears/nose, hair loss, excessive itching, red skin spots, or limping — if any last more than a day or two, book a vet visit. [5]

For liquid medicine, use a syringe to squirt it toward the back teeth at the back of the mouth. [5]

Vaccines protect dogs from serious diseases. [5]

Core vaccines recommended by nearly all vets prevent distemper, parvovirus and rabies. [5]

Vaccines for other illnesses, such as Lyme disease or Bordetella, matter in certain regions. [5]

A vet will advise which vaccines a dog needs based on location and lifestyle. [5]

FDA DCM 2019 brand disclosure — 16 dog-food brands most frequently named in DCM reports (historical snapshot; no causal link established)

Dog Food Brands Named Most Frequently in DCM Cases Reported to FDA. Graph shows the dog food brands most frequently named in reports of DCM submitted to FDA. [15]

Acana 67; Zignature 64; Taste of the Wild 53; 4Health 32; Earthborn Holistic 32; Blue Buffalo 31; Nature’s Domain 29; Fromm 24; Merrick 16; California Natural 15; Natural Balance 15; Orijen 12; Nature’s Variety 11; NutriSource 10; Nutro 10; Rachael Ray Nutrish 10 [15]

it is important to note that the graph below is based on reports that included brand information and that some reports named multiple brands [15]

they do not supply sufficient data to establish a causal relationship with reported product(s). [15]

FDA urges pet owners to work with their veterinarians, who may consult a board-certified veterinary nutritionist, to obtain the most appropriate dietary advice for their pet's specific needs prior to making diet changes. [15]

FDA DCM investigation — Feb 19 2019 CVM update: 300 reports (294 canine/6 feline) through Nov 30 2018; investigation paused by appropriations lapse; 90% grain-free among single-diet cases

Between January 1, 2014, and November 30, 2018, the FDA received 300 reports of DCM (294 canine reports, 6 feline reports) [16]

This update does not include reports received in December and January due to the lapse in appropriations from December 22, 2018, to January 25, 2019. [16]

In cases in which dogs ate a single primary diet (i.e., didn’t eat multiple food products, excluding treats), 90 percent reported feeding a grain-free food. [16]

[Paraphrased derived summary — non-Open-Access source.] Core vaccines recommended by nearly all vets prevent diseases such as distemper, parvovirus and rabies. [2]

[Paraphrased derived summary — non-Open-Access source.] Puppies need vaccination every 2–3 weeks until about 4 months of age. [1]

[Paraphrased derived summary — non-Open-Access source.] Costs include check-ups, vaccines, parasite control (e.g., heartworm prevention), illness or emergency treatment, and dental care. [3]

"Every owner of a dog, after the dog attains the age of three months or older, shall, at intervals of time not more often than once a year, as may be prescribed by the department, procure its vaccination by a licensed veterinarian with a canine antirabies vaccine approved by the department and administered according to the vaccine label" [17]

"A dog that is exempt from the vaccination requirements of this section shall be considered unvaccinated." [17]

"The animal must be at least 12 weeks old on the date the primary vaccine was administered." [18]

"The date of administration of the vaccine must not precede the date of identification or reading of the microchip." [18]

"The period of validity of the vaccination must start no fewer than 21 days from the completion of the vaccination protocol for the primary vaccination, and any subsequent vaccination must have been carried out within the period of validity of the preceding vaccination." [18]

The period of validity of the vaccination starts not less than 21 days from the completion of the vaccination protocol [19]

"The animal was at least 12 weeks old at the date the vaccine was administered." [20]

"The date of administration of the vaccine does not precede the date of identification or reading of the microchip." [20]

"The period of validity of the vaccination starts not less than 21 days from the completion of the vaccination protocol for the primary vaccination, and any subsequent vaccination was carried out within the period of validity of the preceding vaccination." [20]

(1)(a) All dogs, cats, and ferrets 4 months of age or older must be vaccinated by a licensed veterinarian or a person authorized under paragraph (b) against rabies with a vaccine that is licensed by the United States Department of Agriculture for use in those species. [21]

This will be at least 21 full days after the first vaccination (or the last of the first course of vaccinations). [22]

"Sec. 826.021. VACCINATION OF DOGS AND CATS REQUIRED." [23]

Requirements are based on your dog's situation including whether it has been to a high-risk country for dog rabies in the last six months and where it was vaccinated. [24]

Toxicology & Hazards

Substances and environmental hazards to avoid.

Pet acute-toxicity numeric thresholds — grapes / raisins (dogs)

One of the more striking poisonings to have emerged as a potential concern over the last few years has been that of raisin poisoning in dogs. [25]

The ingested doses involved in these fatal cases ranged from 10 to 57 g of fruit per kg b. wt. [25]

There are now several reports that confirm that ingestion of these fruits can cause renal failure in dogs. [25]

Grapes contain an unknown toxin [25]

The general consensus at present is that potentially any dose should be considered a problem. [25]

Estimated amounts of grapes associated with renal injury in dogs are about 32 g/kg; amounts of raisins associated with signs range from 11–30 g/kg [25]

Pet acute-toxicity numeric thresholds — onion / garlic (Allium, dogs & cats)

Consumption of as little as 5 g/kg of onions in cats or 15 to 30 g/kg in dogs has resulted in clinically important hematologic changes [25]

Onion toxicosis is consistently noted in animals that ingest more than 0.5% of their b. wt. in onions at one time. [25]

Cats are more susceptible than dogs. [25]

Garlic (Allium sativum) is considered to be less toxic and safe for dogs than onion when used in moderation. [25]

Garlic is toxic also for horses, at a daily dose of >0.2 g/kg causes Heinz body anemia in them [25]

The toxic components in all type of onions, garlic, leeks, shallots, and other plants of the Allium family, are sulfoxides and aliphatic sulfides [25]

Pet acute-toxicity thresholds — Chocolate / theobromine (methylxanthine concentrations by product + clinical effect doses in dogs)

"(vomiting, diarrhoea, polydipsia) may be seen in dogs ingesting 20 mg/kg" of theobromine. [25]

"cardiotoxic effects may be seen at 40–50 mg/kg, and seizures may occur at doses ≥60 mg/kg" [25]

"approximately 1.3 g/kg b.wt. of baker's chocolate is sufficient to cause symptoms of toxicity" (baker's chocolate ≈16 mg/g theobromine → ~80 mg/kg theobromine). [25]

"A 10-kilogram dog can be seriously affected if it eats a quarter of a 250 g packet of cocoa powder or half of a 250 g block of cooking chocolate." [25]

Pet toxin — Brewing Hops (malignant hyperthermia in dogs)

Beer Hops, Common Hops, European Hops [13]

Hops flowers are used in the fermentation process of brewing beer. [13]

After fermentation the used hops are discarded. [13]

Ingestion of used hops by dogs can result in rapid onset, life-threatening high fever with clinical signs of panting, racing heart rate, vomiting, seizure, and death. [13]

Any breed or mixed-breed of dog may be affected, but breeds predisposed to high fever disorder including Greyhound, Labrador Retriever, Saint Bernard, Pointer breeds, Doberman, Border Collie, and American Cocker Spaniel are at higher risk for hops poisoning. [13]

Pet toxin — Ibuprofen (NSAID; GI ulceration, kidney impairment, neurological; dogs & cats)

Advil®, Motrin® [12]

Ibuprofen is a human-specific, non-steroidal anti-inflammatory drug (NSAID); this medication should not be administered to companion animals. [12]

When ingested in toxic amounts, ibuprofen can result in severe clinicals signs including gastrointestinal ulceration (e.g., vomiting and diarrhea with blood), kidney impairment (e.g., inital excessive urination to no urine production), and neurological disorder (depression, coma, death). [12]

Pet toxin — Sago Palm / Cycad (Cycasin; liver failure in dogs, cats, horses)

Scientific Name: Cycas revoluta, zamia species [14]

Family: Cycadaceae [14]

Toxicity: Toxic to Dogs, Toxic to Cats, Toxic to Horses [14]

Toxic Principles: Cycasin [14]

Clinical Signs: Vomiting, melena, icterus, increased thirst, hemorrhagic gastroenteritis, bruising, coagulopathy, liver damage, liver failure, death. [14]

[Paraphrased derived summary — non-Open-Access source.] Keep harmful chemicals such as cleaning supplies, antifreeze and certain plants away from pets. [2]

Grooming

Brushing / bathing, nails, coat / skin and dental care.

Dog — grooming (regular grooming needed; tooth-brushing for dental health; coat brushing prevents mats)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Dogs need checkups, grooming, and a safe home to stay healthy. [4]

Regular toothbrushing supports dental health. [4]

Regular brushing removes loose hair and prevents mats. [4]

Indoor dogs live with people and often their furniture. [4]

Outdoor dogs need access to a clean shelter that protects them from bad weather. [4]

Dry food aids dental health at equal nutrition compared with canned food. [4]

Liquid medicine: use a syringe to deliver it to the back of the mouth near the rear teeth. [4]

Topical medicine: apply directly to skin or coat at the neck scruff so the dog cannot lick it. [4]

This is especially important for dogs with thick or long fur. [4]

[Paraphrased derived summary — non-Open-Access source.] The coat is shown in its natural state without excessive grooming. [6]

[Paraphrased derived summary — non-Open-Access source.] The dog is self-coloured, so the eyes, rims, lips, nose, nails and pads blend with the coat; solid dark mahogany or pale yellow is faulty, while small white on the forechest and toes is allowed. [6]

[Paraphrased derived summary — non-Open-Access source.] Dogs need regular vet checkups, grooming and a safe home to stay healthy. [5]

Breeding & Spay/Neuter

Neutering / spaying, reproduction and preventing unwanted litters.

Dog — spay/neuter (recommended unless bred; timing & cancer/marking prevention)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Every dog should be spayed or neutered unless used for breeding. [4]

Bitches are best spayed around 6 months, before the first heat. [4]

This lowers risk of mammary and uterine cancer. [4]

Males are typically neutered at 5–10 months. [4]

Neutering also reduces urine marking and some behavior issues. [4]

Large breeds need at least two small meals daily to lower bloat risk. [4]

For most breeds, ribs and spine should be felt but not seen. [4]

Brachycephalic breeds (e.g., French Bulldogs, Pugs) tire on long exercise but still benefit from short walks. [4]

High-energy breeds (e.g., Irish Setters, Dalmatians) need more activity than calm ones (e.g., Newfoundlands, Basset Hounds). [4]

Most dogs mature at 9–12 months; large and giant breeds may need nearly 2 years. [4]

Switch from puppy to adult food when grown, per breed guidance. [4]

The surgery that stops breeding is called spaying (females) or neutering (males). [4]

Regulations & Legality

Legality crosswalk lines for this species, where available. Jurisdiction-specific pet law is frequently a gap — see the roadmap.

Beijing — banned dog breeds in key management areas (北京市农业局公告 京农畜字〔2003〕47号)

根据《北京市养犬管理规定》，北京市农业局制定了北京市养犬重点管理区准养犬类标准，特此公告。 [26]

重点管理区内原则上应饲养成年体高35厘米以下(含35厘米)的小型玩赏犬。如：巴哥、北京犬、博美、查理士王小猎犬、蝴蝶犬、吉娃娃、马尔吉斯、迷你杜宾、西施、约克夏、迷你贵宾犬等犬种。 [26]

重点管理区应禁止饲养烈性犬及成年体高超过35厘米的犬种。如：獒犬、德国杜宾犬、圣伯纳犬、大丹犬、大白熊犬、波恩山犬、罗威纳犬、威玛猎犬、雪达犬、阿富汗猎犬、猎狐犬、寻血猎犬、爱尔兰狼犬、沙克犬、灵缇、苏俄牧羊犬、巴仙吉犬、澳洲牧羊犬、比利时牧羊犬、法兰德斯牧羊犬、长须牧羊犬、苏格兰牧羊犬、德国牧羊犬、古典英国牧羊犬、英国斗牛犬、松狮犬、斑点犬、荷兰毛狮犬、秋田犬、纽芬兰犬、雪橇犬、贝林登梗、伯德梗、牛头梗、凯利兰梗等犬种。 [26]

用于导盲和生活扶助的工作犬，不受35厘米体高的限制。 [26]

California — 'potentially dangerous dog' definition (Food & Ag Code § 31602)

"31602." [27]

"“Potentially dangerous dog” means any of the following:" [27]

"Any dog which, when unprovoked, on two separate occasions within the prior 36-month period, engages in any behavior that requires a defensive action by any person to prevent bodily injury when the person and the dog are off the property of the owner or keeper of the dog." [27]

"Any dog which, when unprovoked, bites a person causing a less severe injury than as defined in Section 31604." [27]

California — 'vicious dog' definition (Food & Ag Code § 31603)

"31603." [8]

"“Vicious dog” means either of the following:" [8]

"Any dog previously determined to be and currently listed as a potentially dangerous dog that, after its owner or keeper has been notified of this determination, continues the behavior described in Section 31602 or is maintained in violation of Section 31641, 31642, or 31643." [8]

California — findings on potentially dangerous & vicious dogs (Food & Ag Code § 31601)

"31601." [28]

"CHAPTER 9. Potentially Dangerous and Vicious Dogs [31601 - 31683]" [28]

"The Legislature finds and declares all of the following:" [28]

"Potentially dangerous and vicious dogs have become a serious and widespread threat to the safety and welfare of citizens of this state." [28]

"The necessity for the regulation and control of vicious and potentially dangerous dogs is a statewide problem, requiring statewide regulation, and existing laws are inadequate to deal with the threat to public health and safety posed by vicious and potentially dangerous dogs." [28]

California — rabies vaccination compulsory for dogs in rabies areas (Health & Safety Code § 121690)

"CHAPTER 1. Rabies Control [121575 - 121710]" [17]

"In rabies areas, all of the following shall apply:" [17]

"Every owner of a dog, after the dog attains the age of four months, shall no less than once every two years secure a license for the dog" [17]

"A dog that is exempt from the provisions of this section shall not have contact with a dog or cat that is not currently vaccinated against rabies." [17]

Canada — CFIA cat and dog import rules (age tiers, rabies certification, no post-import quarantine)

Domestic cats less than three (3) months of age are not subject to any restrictions for importation. [29]

Domestic cats three (3) months of age or over may be imported if the animal is accompanied at the time of importation by a veterinarian's certificate, in English or French, that clearly identifies the animal and indicates that: [29]

Pet dogs imported from any country are not subject to post-import quarantine in Canada. [29]

A dog that is less than three months of age at the time of import does not require rabies vaccination or certification that the dog is being imported from a country designated as free from rabies under section 7 of the Regulations (Rabies-free country). [29]

Dogs eight months of age or older from a country designated as free from rabies under section 7 of the Regulations (Rabies-free country) may enter Canada if: [29]

Dogs eight months of age or older from a country that is not designated as free from rabies under section 7 of the Regulations (Rabies-free country) may enter Canada if: [29]

Pet dogs less than eight months of age that are accompanied by the owner may enter Canada from: [29]

An assistance dog that is imported as a guide, hearing, or other service dog is not subject to any restrictions for import where the person importing the assistance dog is the user of the dog and accompanies the dog to Canada. [29]

China — 南京市养犬管理条例 (Nanjing Dog-Management Regulation, 2007): registration, banned large/strong breeds, carcass cremation

中文原文：南京市养犬管理条例 [30]

中文原文：第九条 重点管理区养犬实行登记制度．犬只未经登记的，任何单位和个人不得饲养。 [30]

中文原文：第二十四条 重点管理区养犬还应当遵守下列规定： （一）个人养犬每户限养一只，不得饲养烈性犬、大型犬。 [30]

中文原文：第十条 重点管理区内个人申请养犬应当具备下列条件： [30]

中文原文：不得在重点管理区掩埋和随意丢弃犬尸，应当对犬尸进行火化。 [30]

中文原文：重点管理区内单位申请养犬应当具备下列条件： [30]

China — 杭州限制养犬规定 (Hangzhou restricted-dog rules): 重点限养区 禁止饲养烈性犬/大型犬

中文原文：杭州市限制养犬规定 杭州市第十届人大常委会公告第40号 [31]

中文原文：第八条 重点限养区内禁止饲养烈性犬、大型犬，禁止从事犬类的养殖、销售活动。 [31]

中文原文：重点安全保卫单位或科研单位因护卫、科研需要确需养犬的，须凭该单位上级主管部门的证明材料，经所在地公安派出所审核同意后，报犬类主管部门批准。 [31]

中文原文：有本市常住或暂住户口、独户居室并具有民事行为能力的公民，在重点限养区内需要饲养小型观赏犬的 [31]

中文原文：在一般限养区内需要养犬的，须凭居（村）委会证明材料，并经所在地街道办事处（乡镇政府）审核同意后，报犬类主管部门批准。 [31]

China — 武汉养犬管理条例 (Wuhan dog-keeping rules 2025): 全市禁养烈性犬/大型犬 + 重点区每户一只

中文原文：第六条 本市禁止饲养、出售烈性犬和大型犬，导盲犬、助残犬除外。 禁止饲养、出售的烈性犬、大型犬的具体名录，由市公安机关会同市农业农村主管部门确定，报经市人民政府批准后向社会公布。 [32]

中文原文：第七条 重点管理区内个人养犬每户限养一只。所养犬只繁殖幼犬的，养犬人应当自犬只出生之日起六十日内，将超出限养数量的犬只自行妥善处理或者送交犬只收容、留检场所。 [32]

中文原文：从境外进口的犬只，在办理养犬登记时，应当提供海关出具的入境货物检验检疫证明。 [32]

中文原文：第十三条 农业农村主管部门负责监督管理犬只免疫、检疫和病死犬只无害化处理、动物诊疗机构等工作。 [32]

中文原文：鼓励养犬人对饲养的犬只实施绝育。 [32]

China — 苏州市养犬管理条例 (Suzhou Dog-Management Regulation): registration, one-dog limit, banned breed list by public notice

中文原文：苏州市养犬管理条例 [33]

中文原文：第十一条 本市实行养犬登记制度。养犬人应当在犬只免疫后依照本条例规定，向公安机关申请养犬登记，取得养犬登记证。未经登记，任何单位和个人不得饲养犬龄超过四个月的犬只。 [33]

中文原文：重点管理区域内个人饲养犬只的，每户限养一条。 [33]

中文原文：大型犬只的标准和烈性犬只的品种目录，由市公安机关会同市畜牧兽医部门、相关行业协会，根据国家有关规定和实际需要确定、调整，并向社会公布。 [33]

中文原文：第二十一条 禁止携带犬只进入饭店、园林、封闭式公园、健身步道、机关、学校、幼儿园、青少年活动中心、妇女儿童活动中心、工人文化宫、养老院、医院、图书馆、展览馆、博物馆、美术馆、影剧院、体育场馆 [33]

中文原文：第十四条 个人申请养犬登记应当符合下列条件： [33]

China — 重庆禁养烈性犬/攻击性犬目录 (Chongqing banned dog breeds, 2023): 32-breed list + 大型犬标准

中文原文：重庆市第五届人民代表大会常务委员会第三十八次会议审议通过了《重庆市养犬管理条例》（〔五届〕第207号），于2023年6月1日施行。 [34]

中文原文：第十二条规定“重点管理区、一般管理区按照各自禁养犬只种类目录规定，不得饲养相应的烈性犬、攻击性犬。饲养大型犬应当符合相关规定。禁养的烈性犬、攻击性犬种类目录和大型犬的标准由市农业农村部门会同市公安机关确定，并向社会公布”。 [34]

中文原文：重庆市禁养烈性犬、攻击性犬种类目录和大型犬标准（试行） [34]

中文原文：1.藏獒；2.纽波利顿（别名：意大利獒犬，拿破仑犬）；3.巴西菲勒（别名：巴西獒犬）；4.波尔多（别名：法国獒犬）；5.杜高（别名：阿根廷獒犬） [34]

中文原文：饲养大型犬应当符合相关规定。 [34]

Delaware — rabies vaccination required for dogs, cats, and ferrets (3 Del. C. § 8204)

CHAPTER 82. Rabies Control in Animal and Human Populations [35]

Subchapter I. Rabies Control in Animal and Human Populations [35]

§ 8204. Rabies vaccination required for dogs, cats, and ferrets; antirabies clinics. [35]

(a) Vaccination of dogs. — (1) Any person owning a dog 6 months of age or older in this State shall have that dog vaccinated against rabies by a licensed veterinarian, or by a licensed veterinary technician working under the indirect supervision of a licensed veterinarian if the dog is in a shelter and is owned by the shelter; [35]

exemption from vaccination against rabies may be permitted if a licensed veterinarian has examined the animal and based on the veterinarian’s professional judgment, has certified in writing that at the time, vaccination would endanger the animal’s health because of its infirmity, disability, illness, or other medical considerations [35]

EU Travellers' Points of Entry for pet dogs, cats & ferrets from non-EU countries (designated entry locations)

Dogs, cats and ferrets moved for non-commercial purposes into an EU country from a non-EU country or territory other than Andorra, Switzerland, Faroe Islands, Gibraltar, Greenland, Iceland, Liechtenstein, Monaco, Norway, San Marino, and Vatican City State, must enter through the following travellers' points of entry designated by each EU country, where they are subjected to documentary and identity checks by the competent authorities [36]

Other countries with special agreements Switzerland (CH) Norway (NO) United Kingdom (Northern Ireland) [36]

EU entry requirements for pet dogs, cats & ferrets from a non-EU country (microchip, rabies, antibody titration, tapeworm, AHC)

The pet animal (dog, cat or ferret) must be identified by the implantation of a microchip [19]

The pet animal (dog, cat or ferret) must be vaccinated against rabies by an official or an authorised veterinarian [19]

The test must measure a level of neutralising antibody to rabies virus in serum equal to or greater than 0,5 IU/ml. [19]

Pet dogs (not pet cats or pet ferrets) must be treated against the parasite Echinococcus multilocularis prior to entering: any EU country listed in Annex XIX [19]

Be administered by a veterinarian within a period of not more than 120 hours and not less than 24 hours before the time of scheduled entry. [19]

The maximum number of pet animals (dogs, cats or ferrets) which may be moved for non-commercial purposes is 5 in a single vehicle [19]

valid for 10 days from the date of issue by the official veterinarian until the date of the documentary and identity checks at the travellers' points of entry designated by each EU country. [19]

EU legal framework for movement of dogs, cats and ferrets (Animal Health Law, non-commercial pet movement, commercial, entry into EU)

The EU has established uniform animal health rules for the movement of dogs, cats, and ferrets. [37]

the EU has put in place rules targeting the control of certain animal diseases such as rabies and echinococcosis (infestation by Echinococcus multilocularis, a species of tapeworm affecting wild and domestic canidae). [37]

These rules are laid down in Regulation (EU) 2016/429 on transmissible animal diseases (‘Animal Health Law’) and its delegated and implementing acts. [37]

When dogs, cats, and ferrets travel with their owners (non-commercial movements, which do not aim at sale or transfer of ownership of the animals) the applicable rules are laid down in Commission Delegated Regulation (EU) 2026/131 on animal health requirements for non-commercial movement of pet animals. [37]

The rules concerning commercial movements of dogs, cats, and ferrets within the EU are set out in Commission Delegated Regulation (EU) 2020/688, as amended, on animal health requirements for movements within the EU of terrestrial animals and hatching eggs. [37]

Specific animal health requirements for entry into the EU of dogs, cats, and ferrets are laid down in Delegated Regulation (EU) 2020/692, as amended, on entry and movement of animal consignments, germinal products and animal products. [37]

EU non-commercial pet travel within the EU (dog/cat/ferret between member states) — microchip, rabies, tapeworm, max 5 animals

The pet animal "must travel with its owner and under its owner's direct responsibility." [20]

"The maximum number of pet animals (dogs, cats or ferrets) which may be moved for non-commercial purposes is 5 in a single vehicle." [20]

Identification: "must be identified by the implantation of a microchip" (technical specs in Article 70a of Commission Delegated Regulation (EU) 2019/2035, as amended). [20]

EU young pet animals (dogs/cats/ferrets) rabies vaccination exemptions — Article 9 of Reg (EU) 2026/131, member-state table

EU countries have discretion to determine whether they allow the introduction onto their territory of "young dogs, cats and ferrets" [20]

"young dogs, cats and ferrets", i.e. dogs, cats and ferrets which are: less than 12 weeks old and have not received an anti-rabies vaccination, or between 12 and 16 weeks old and have received an anti-rabies vaccination but are not yet fully protected (i.e. do not met the validity requirements for the anti-rabies vaccination). [20]

Young dogs, cats and ferrets may be moved: Within the EU for non-commercial purposes in accordance with Article 9 of Delegated Regulation (EU) 2026/131 [20]

Young dogs, cats and ferrets cannot be moved into the EU from a non-EU country or territory for whatever purposes. [20]

Florida — rabies vaccination compulsory for dogs, cats, and ferrets (Statute § 828.30)

828.30 Rabies vaccination of dogs, cats, and ferrets.— [21]

(c) The owner of every dog, cat, and ferret shall have the animal revaccinated 12 months after the initial vaccination. [21]

(2) A dog, cat, or ferret is exempt from vaccination against rabies if a licensed veterinarian has examined the animal and has certified in writing that at the time vaccination would endanger the animal’s health because of its age, infirmity, disability, illness, or other medical considerations. [21]

Great Britain pet entry requirements for dogs & cats (microchip, rabies 21-day wait, tapeworm window, AHC, quarantine)

They must be microchipped before they get their rabies vaccination. [22]

Your dog must be treated no less than 24 hours before (and no more than 5 days before) you arrive in Great Britain. [22]

Depending on the country you're travelling from, you might also need to get a blood test. [22]

Your pet may be put into quarantine for up to 4 months if you do not follow these rules - or refused entry if you travelled by sea. [22]

You cannot bring a banned breed of dog into Great Britain unless it already has a valid Certificate of Exemption. [22]

Great Britain pet import rules for dogs, cats and ferrets (microchip, rabies vaccination, tapeworm, travel document, quarantine)

These rules apply if you’re bringing pet dogs, cats or ferrets into Great Britain (England, Wales and Scotland). [22]

Microchip your pet. They must be microchipped before they get their rabies vaccination. [22]

Vaccinate your pet against rabies. How long you must wait before travelling to Great Britain depends on the type of rabies vaccine used. This will be at least 21 full days after the first vaccination (or the last of the first course of vaccinations). [22]

Get a pet travel document from your vet. [22]

If you have a dog, you may need a vet to give them tapeworm treatment. Your dog must be treated no less than 24 hours before (and no more than 5 days before) you arrive in Great Britain. [22]

Guangzhou — dangerous dog breeds banned in strict-management areas (穗公规字〔2020〕1号)

广州市一般管理区实行圈养和严格管理区禁止饲养、销售、繁殖的危险犬是指包括格斗犬只等攻击性强的烈性犬只、有烈性犬血统的混种犬只，以及体型特别巨大的大型犬只。 [38]

Japan Rabies Prevention Act (Law No. 247 of 1950) Arts. 4-5 — dog registration within 30 days; annual rabies vaccination mandatory (狂犬病予防法)

日文原文：第二条 この法律は、次に掲げる動物の狂犬病に限りこれを適用する。 ただし、第二号に掲げる動物の狂犬病については、この法律の規定中第七条から第九条まで、第十一条、第十二条及び第十四条の規定並びにこれらの規定に係る第四章及び第五章の規定に限りこれを適用する。 一 犬 二 猫その他の動物（牛、馬、めん羊、山羊、豚、鶏及びあひる（次項において「牛等」という。）を除く。）であつて、狂犬病を人に感染させるおそれが高いものとして政令で定めるもの [39]

日文原文：第四条 犬の所有者は、犬を取得した日（生後九十日以内の犬を取得した場合にあつては、生後九十日を経過した日）から三十日以内に、厚生労働省令の定めるところにより、その犬の所在地を管轄する市町村長（特別区にあつては、区長。以下同じ。）に犬の登録を申請しなければならない。 [39]

日文原文：第五条 犬の所有者（所有者以外の者が管理する場合には、その者。以下同じ。）は、その犬について、厚生労働省令の定めるところにより、狂犬病の予防注射を毎年一回受けさせなければならない。 [39]

日文原文：２ 市町村長は、政令の定めるところにより、前項の予防注射を受けた犬の所有者に注射済票を交付しなければならない。 [39]

Japan — MAFF Animal Quarantine Service dog/cat import rules (microchip, dual rabies vaccine, antibody titer, 180-day wait, 40-day notice)

To import dogs and cats from non-designated regions, they must meet import requirements such as microchip implanting, rabies vaccination at least twice, rabies antibody test, and 180-day waiting. [40]

Dogs and cats must be identified by a microchip before the first rabies vaccination. [40]

Dogs and cats must be vaccinated against rabies twice or more after the microchip implanting. [40]

Rabies antibody test must be performed at one of the designated laboratories. [40]

Antibody titer against rabies must be equal to or greater than 0.5 IU/ml. [40]

The test result is valid for 2 years from the date of blood sampling. [40]

Dogs and cats are required to arrive in Japan after 180 days have passed from the date of blood sampling for the rabies antibody test. [40]

Applicants must notify Animal Quarantine Service at the expected port of entry not less than 40 days before arrival in Japan. [40]

Dogs can enter Japan only through the designated airports and seaports. [40]

Before leaving the exporting country (within 10 days before boarding), dogs and cats must undergo a clinical inspection by a veterinarian. [40]

Applicants must obtain certificates issued by the government agency (corresponding to Animal Quarantine service in Japan) of the exporting country. [40]

Dogs and cats must be inspected by Animal Quarantine Service upon arrival in Japan. [40]

In case that the dog or cat doesn’t meet import requirements, it will be subject detention quarantine for up to 180 days or will be returned. [40]

New South Wales — restricted dog breeds (Companion Animals Act 1998)

American pit bull terrier, pit bull terrier, Japanese tosa, dogo Argentino or fila Brasileiro, Perro de Presa Canario or Presa Canario [41]

New York — rabies vaccination compulsory for all dogs, cats and ferrets (Public Health Law § 2141)

"Public Health (PBH) CHAPTER 45, ARTICLE 21, TITLE 4" [42]

"Every dog, cat and domesticated ferret shall be actively immunized against rabies in accordance with regulations promulgated by the commissioner." [42]

"Every dog, cat and domesticated ferret shall have all initial vaccinations administered no later than four months after birth." [42]

"Every dog, cat and domesticated ferret shall have a second vaccination within one year of the first." [42]

"Subdivision one of this section shall not apply to any feral animal or any dog, cat or domesticated ferret:" [42]

"The owning of a dog, cat or domesticated ferret by any person in violation of subdivision one of this section shall constitute a violation, and shall be subject to a fine not to exceed two hundred dollars for each offense." [42]

Northern Ireland — Dangerous Dogs Act 1991 banned dog types

"pit bull terrier" and "Japanese tosa" — named directly in DDA 1991 s.1(1)(a)–(b). [43]

"Dogo Argentino" and "Fila Braziliero" — designated by SI 1991/1743 reg. 2 (statute spells "Fila Braziliero"). [43]

"XL Bully" — designated by the devolved 2024 Order (SR 2024/133 (Northern Ireland)). [43]

"Article 25A of The Dogs (Northern Ireland) Order 1983" — Section 1(1)(c) provides the mechanism for further types to be designated by Order. [43]

"in operation at 5.7.2024" — The 2024 Order is in operation at 5.7.2024 (Commencement Information I1, art. 1). [43]

Queensland — prohibited dogs (Animal Management (Cats and Dogs) Act 2008 s.103A)

A prohibited dog is a dog of a breed prohibited from importation into Australia under the Customs Act 1901 (Cwlth). [44]

Scotland — Dangerous Dogs Act 1991 banned dog types

"XL Bully" — designated by the devolved 2024 Order (SSI 2024/31 (Scotland)). [45]

"section 1 of the Dangerous Dogs Act 1991" — Section 1(1)(c) provides the mechanism for further types to be designated by Order. [45]

Shanghai — banned fierce-dog directory (上海市养犬管理条例 第十二条 / Article 12)

《上海市养犬管理条例》第十二条：禁止个人饲养烈性犬只。 [46]

本市禁止个人饲养烈性犬只目录：藏獒、獒犬、罗威那犬、意大利扭玻利顿、法国波尔多獒犬、斗牛獒犬、西班牙獒犬、高加索犬、比利牛斯獒犬、巴西菲勒、阿根廷杜高獒犬、丹麦布罗荷马獒等獒犬以及具有獒犬血统的杂交犬只。法国狼犬、昆明狼犬、德国牧羊犬等狼犬以及具有狼犬血统的杂交犬只。英国斗牛犬、英国老式斗牛犬、美国斗牛犬、土佐犬、牛头梗、德国杜宾犬等烈性犬以及具有上述犬种血统的杂交犬只。 [46]

Shenzhen — fierce-dog breeds banned (深市监规〔2024〕6号)

禁止在居民住宅区、商业区、工业区以及市主管部门划定的其他禁止饲养烈性犬的区域内饲养烈性犬。烈性犬的具体品种，由市场监管部门确定，并向社会公布 [47]

Singapore — Specified (controlled) dog breeds (AVS)

Part 1 1. Pit Bull, which includes the American Pit Bull Terrier (which is also known as the American Pit Bull and Pit Bull Terrier), American Staffordshire Terrier, Staffordshire Bull Terrier, American Bulldog, and crosses between them and other breeds 2. Akita 3. Neapolitan Mastiff 4. Tosa 5. Dogo Argentino 6. Fila Brasileiro 7. Boerboel 8. Perro De Presa Canario 9. Crosses of 1 to 8. [48]

Part 2 1. Bull Terrier 2. Doberman Pinscher 3. Rottweiler 4. German Shepherd Dog and its related breeds such as the Belgian Shepherd Dog and the East European Shepherd Dog 5. Mastiffs, including the Bull Mastiff, Cane Corso and Dogue De Bordeaux 6. Crosses of 1 to 5. [48]

South Australia — prescribed (restricted) dog breeds (Dog and Cat Management Act 1995)

prescribed breed means any of the following breeds: (a) American Pit Bull Terrier; (b) Fila Braziliero; (c) Japanese Tosa; (d) Dogo Argentina; (e) Presa Canario. [49]

Texas — dangerous-dog law (Health & Safety Code Chapter 822); no breed-specific local bans

"CHAPTER 822. REGULATION OF ANIMALS" [50]

"means a dog that: (A) makes an unprovoked attack on a person that causes bodily injury" [50]

"A person commits an offense if the person is the owner of a dog and the person:" [50]

"This subchapter does not prohibit a municipality or county from adopting leash or registration requirements applicable to dogs." [50]

"A county or municipality may place additional requirements or restrictions on dangerous dogs if the requirements or restrictions: (1) are not specific to one breed or several breeds of dogs; and (2) are more stringent than restrictions provided by this subchapter." [50]

Texas — rabies vaccination compulsory for dogs and cats (Health & Safety Code Chapter 826)

"CHAPTER 826. RABIES" [23]

"TITLE 10. HEALTH AND SAFETY OF ANIMALS" [23]

"This chapter may be cited as the Rabies Control Act of 1981." [23]

"Except as otherwise provided by department rule, the owner of a dog or cat shall have the animal vaccinated against rabies by the time the animal is four months of age and at regular intervals thereafter as prescribed by department rule." [23]

"A person commits an offense if the person fails or refuses to have each dog or cat owned by the person vaccinated against rabies" [23]

UK Dangerous Dogs Act 1991 — banned dog types (England & Wales)

"pit bull terrier" and "Japanese tosa" — are named directly in DDA 1991 s.1(1)(a)–(b). [51]

"Dogo Argentino" and "Fila Braziliero" — are designated by The Dangerous Dogs (Designated Types) Order 1991 (SI 1991/1743), reg. 2 — note the statute spells it "Fila Braziliero". [51]

"XL Bully" — is designated by The Dangerous Dogs (Designated Types) (England and Wales) Order 2023 (SI 2023/1164), art. 2, in force at 31.12.2023. [51]

"any type designated for the purposes of this section by an order of the Secretary of State" — Section 1(1)(c) provides the mechanism: further types may be designated by Order. [51]

United States — CDC 2024 dog import rules (effective Aug 1, 2024): CDC Dog Import Form, high-risk tracks, rabies documentation

CDC strives to protect America’s families, communities, and pets by preventing the reintroduction of dog rabies into the United States. [24]

Your dog will NOT be allowed to enter the U.S. if it is not vaccinated against rabies and has been in a high-risk country for dog rabies in the past 6 months. [24]

United States — traveling with a pet: USDA APHIS overview (qualifying species, CDC dog-import authority, accredited vet)

"Travel With a Pet" [9]

"The U.S. Centers for Disease Control and Prevention (CDC) is the primary authority for dog imports. This includes dogs entering or returning to the United States." [9]

"CDC requires all U.S.-vaccinated dogs that have traveled to a high-risk country for rabies within the past 6 months to have a "Certification of U.S.-Issued Rabies Vaccination" form." [9]

"If you are planning to take your pet from the United States to another country, contact a USDA-accredited veterinarian as soon as you decide to travel." [9]

Virginia — local authority to prohibit attack-dog training (Va. Code § 3.2-6541)

"§ 3.2-6541. Authority to prohibit training of attack dogs." [10]

"Fairfax County may enact an ordinance that prohibits persons from training dogs on residential property to attack." [10]

Virginia — rabies control; local ordinances may require rabies vaccination of dogs and cats (Code § 3.2-6522)

"§ 3.2-6522. Rabid animals." [52]

"The governing body of any locality shall also have the power and authority to pass ordinances restricting the running at large in their respective jurisdiction of dogs and cats that have not been inoculated or vaccinated against rabies and to provide penalties for the violation thereof." [52]

"Any dog or cat for which no proof of current rabies vaccination is available and that may have been exposed to rabies through a bite, or through saliva or central nervous system tissue, in a fresh open wound or mucous membrane, by an animal suspected to be rabid shall be isolated in a public animal shelter, kennel, or enclosure approved by the local health department for a period not to exceed six months at the expense of the owner or custodian in a manner and by a date certain as determined by the local health director." [52]

"A rabies vaccination shall be administered by a licensed veterinarian prior to release." [52]

"When determining whether a dog that has bitten a person shall be so confined, the health director shall weigh any proof that the dog has current certificates for both (i) rabies vaccination and (ii) special training for police work, military work, or work as a first responder." [52]

Washington — dangerous dog definitions (RCW 16.08.070)

"RCW 16.08.070" [11]

"Dangerous dogs and related definitions." [11]

Potentially dangerous dog" means any dog that when unprovoked: (a) Inflicts bites on a human or a domestic animal either on public or private property, or (b) chases or approaches a person upon the streets, sidewalks, or any public grounds in a menacing fashion or apparent attitude of attack, or any dog with a known propensity, tendency, or disposition to attack unprovoked, to cause injury, or to cause injury or otherwise to threaten the safety of humans or domestic animals." [11]

Severe injury" means any physical injury that results in broken bones or disfiguring lacerations requiring multiple sutures or cosmetic surgery." [11]

Western Australia — restricted breed dogs (Dog (Restricted Breeds) Regulations 2002)

“restricted breed dog” means a dog of any of the following breeds — (a) dogo Argentino; (b) fila Brasileiro; (c) Japanese tosa; (d) American pit bull terrier; (e) pit bull terrier; or (f) any other breed of dog the importation of which is prohibited absolutely by the Customs (Prohibited Imports) Regulations.

Costs & Responsibility

Dog — cost & responsibility awareness (housing/food/vet/emergency/dental; social & health benefits)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Budget for housing, quality food, and veterinary care. [3]

Pet ownership builds a strong bond with social and health benefits. [3]

Pets teach children responsibility and care for others. [3]

Many adult dogs find crates reassuring as personal space. [3]

Good nutrition is vital to dog health. [3]

Overfeeding drives obesity and related illness. [3]

Puppies need proper nutrition. [3]

Choose puppy foods with the AAFCO adequacy statement. [3]

Japan-Specific

Japan Animal Welfare Act (動物愛護管理法) — Dog/Cat Take-in (犬及び猫の引取り等)

都道府県、政令指定都市又は中核市は、犬及び猫の引取りを行うとともに、道路、公園、広場、その他の公共の場所において発見された負傷動物等の収容を行います。 [53]

Japan Animal Welfare Act — Dog/Cat Take-back by Prefectures (第三十五条)

都道府県等（都道府県及び指定都市、地方自治法第二百五十二条の二十二第一項の中核市（以下「中核市」という。）その他政令で定める市（特別区を含む。以下同じ。）をいう。以下同じ。）は、犬又は猫の引取りをその所有者から求められたときは、これを引き取らなければならない。 [53]

China-Specific

Beijing — Dog Management Regulation (养犬管理规定): mandatory registration+annual check, free rabies vaccination, one-dog/ household limit in key zones (2003)

中文原文：第九条 本市实行养犬登记、年检制度。未经登记和年检，任何单位、个人不得养犬。

中文原文：携犬到畜牧兽医行政部门批准的动物诊疗机构对犬进行健康检查，免费注射预防狂犬病疫苗，领取动物防疫监督机构出具的动物健康免疫证。

中文原文：重点管理区内，每户只准养一只犬，不得养烈性犬、大型犬。

中文原文：公安机关是养犬管理工作的主管机关，全面负责养犬管理工作，并具体负责养犬登记和年检，查处无证养犬、违法携犬外出等行为。

中文原文：未经登记、年检养犬的，由公安机关没收其犬，或者对单位处5000元罚款，对个人处2000元罚款。

Changsha — Dog Management Regulation (长沙市养犬管理条例): zoned system, licence & rabies vaccine, one-dog limit, smart tag when out

中文原文：第十二条 本市养犬按照禁止养犬区、严格管理区和一般管理区实行分区域管理制度。 [54]

中文原文：严格管理区内实行养犬许可制度和犬只狂犬病强制免疫制度。 [54]

中文原文：第十四条 严格管理区内饲养普通犬只的，每户限养一只。 [54]

中文原文：第二十三条 在严格管理区内携犬出户时应当遵守下列规定： （一）在犬只颈部佩戴公安机关发放的智能犬牌； [54]

Chongqing — Dog Management Regulation (重庆市养犬管理条例): registration, one-dog limit, dangerous-dog control, over-limit penalty

中文原文：第六条 公安机关主管本行政区域内养犬管理工作，依法开展养犬登记管理，捕灭狂犬、处理涉犬治安纠纷等工作。 [55]

中文原文：第十一条 重点管理区内个人养犬的，每户可以饲养一只； [55]

中文原文：（七）饲养烈性犬、攻击性犬、大型犬，未进行栓养、圈养，或者未在显著位置张贴警示标牌； [55]

中文原文：第三十八条 违反本条例规定，重点管理区内个人饲养犬只超过限养数量的，由公安机关责令限期改正； [55]

Guangzhou — Dog Management Regulation (养犬管理条例, 2015 amendment): strict/ordinary zones, compulsory rabies vaccination, dangerous-dog ban (2008/2015)

中文原文：（一）畜牧兽医行政管理部门负责组织犬只的狂犬病等重大疫病的免疫工作；

中文原文：严格管理区，实行犬只强制免疫和养犬登记制度；镇辖区为养犬一般管理区，实行犬只强制免疫制度。

中文原文：严格管理区内个人养犬的，每户限养一只。

中文原文：严格管理区内禁止饲养、销售、繁殖危险犬。

中文原文：狂犬病等疫病的免疫，取得犬只免疫证明。

Hangzhou — Dog Control Provisions (杭州市限制养犬规定): strict-control principle, leashing, unregistered-dog penalty

中文原文：第三条 本市对养犬实行严格控制、严格管理、禁限结合的原则。 [31]

中文原文：（三）小型观赏犬在允许出户时间内，必须束犬链，并由成年人牵领。 [31]

中文原文：申请人购犬后，应携犬到农业部门接受验审、进行免疫接种，并领取《犬类免疫证》。 [31]

中文原文：第十七条 未经批准擅自养犬的，由犬类主管部门没收或者捕杀犬只，对单位养犬的，处以5000元以上10000元以下的罚款，对个人养犬的，处以3000元以上5000元以下的罚款。 [31]

Qingdao — Dog Management Regulation (青岛市养犬管理条例): registration & tag, outing leashing, unregistered/leash penalty

中文原文：第七条 养犬人取得犬只后，应当持居民身份证明与住所证明或者单位营业执照，携犬只到公安机关设立的养犬登记服务场所办理信息登记，领取犬牌。 [56]

中文原文：第九条 携犬出户的，应当遵守下列规定： （一）为犬只佩带犬牌； [56]

中文原文：（二）为犬只束牵引带，并主动避让老年人、残疾人、孕妇和儿童； [56]

中文原文：拒不改正的，可以扣押犬只，处二百元以上一千元以下罚款： （一）携犬出户未佩带犬牌、未为犬只束牵引带或者未即时清除犬粪的； [56]

Shanghai — Dog Management Regulation (养犬管理条例): mandatory rabies vaccination+microchip, registration+annual check, one-dog limit, leash ≤2m (2011)

中文原文：第十条本市依法对饲养的犬只实施狂犬病强制免疫。犬只出生满三个月的，养犬人应当按照本条例规定，将饲养的犬只送至兽医主管部门指定地点接受狂犬病免疫接种，植入电子标识。

中文原文：第十一条本市实行养犬登记制度和年检制度。

中文原文：每户限养一条。

中文原文：（二）为犬只束牵引带，牵引带长度不得超过两米，在拥挤场合自觉收紧牵引带

中文原文：对犬龄满三个月的犬只未进行狂犬病免疫接种的，由动物卫生监督机构责令改正，给予警告；拒不改正的，由动物卫生监督机构代作处理，所需处理费用由违法行为人承担，可以处一千元以下罚款。

Shenyang — Dog Management Regulation (沈阳市养犬管理条例): registration & annual check, one-dog limit, leashing, unlicensed penalty

中文原文：公安机关是养犬管理工作的主管机关，负责养犬登记和养犬许可证年检，查处无证养犬、违法携犬外出行为，以及收留流浪犬等管理工作。 [57]

中文原文：重点管理区内的住户每户准养一只犬，不得饲养烈性犬、大型犬。 [57]

中文原文：（四）携犬出户应当束犬链、挂犬牌，由具有完全行为能力的人牵领，并主动避让他人。 [57]

中文原文：第二十条 违反本条例第十一条规定，养犬人未办理养犬许可证的，由公安机关责令限期补办，逾期仍未办理的，处五百元罚款； [57]

Suzhou — Dog Management Regulation (苏州市养犬管理条例): registration system, one-dog limit, leashing, large/aggressive-breed ban

中文原文：第十一条 本市实行养犬登记制度。 [33]

中文原文：第十二条 养犬重点管理区域内个人饲养犬只的，每户限养一条。 [33]

中文原文：第十三条 个人不得饲养大型犬只、烈性犬只。 [33]

中文原文：（二）由完全民事行为能力人束一点五米以内的牵引带牵领，或者怀抱、装入犬袋犬笼； [33]

Wuhan — Dog Management Regulation (武汉市养犬管理条例, 2025 revision): registration, one-dog limit, banned breeds, leashing

中文原文：第十二条 公安机关是养犬管理工作的主管部门，履行下列职责： （一）办理养犬登记； [32]

中文原文：第七条 重点管理区内个人养犬每户限养一只。 [32]

中文原文：第六条 本市禁止饲养、出售烈性犬和大型犬，导盲犬、助残犬除外。 [32]

中文原文：第二十五条 在重点管理区内携犬出户时，应当遵守下列规定： （一）由完全民事行为能力人牵引或者陪伴牵引； [32]

Breed Standards

Affenpinscher — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Build is square; AKC preferred height is 9½–11½ inches, and FCI gives 25–30 cm with a weight near 4–6 kg. [6]

The coat is dense, rough and harsh, about an inch long on the body with a longer, softer ruff, mane and beard that frame the face; the head shows bushy brows and a beard. [6]

The AKC standard allows black, grey, silver, red and black-and-tan, plus belge (a small chest spot is allowed but large white patches are unwanted); FCI describes the colour as pure black with a black undercoat. [6]

The head is round and domed with a black nose and a monkey-like expression; the bite is slightly undershot (a level bite is allowed), an overshot bite is severely penalized, and a wry mouth is a serious fault. [6]

Temperament is game, alert and inquisitive, loyal and affectionate to family, yet fearless toward any threat; an unsound gait is heavily penalized. [6]

Afghan Hound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Afghan Hound originated in Afghanistan and is classified by the FCI in Group 10 (Sighthounds). [6]

The AKC height is 27 inches for dogs and 25 inches for bitches, each plus or minus one inch (AKC). [6]

The AKC weight is about 60 pounds for dogs and about 50 pounds for bitches (AKC). [6]

The FCI ideal height at the withers is 68 to 74 cm for males (FCI). [6]

The coat is long and silky with a distinctive topknot of long silky hair on the head (AKC). [6]

All colors are permissible, with white markings tolerated (AKC). [6]

The temperament is aloof and dignified yet gay; the eyes are almond-shaped and dark (AKC). [6]

Airedale Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Airedale Terrier originated in Great Britain and is the largest of the Terriers, known as the 'King of Terriers' (FCI Group 3). [6]

The AKC size is approximately 23 inches in height at the shoulder for dogs, with bitches slightly less (AKC). [6]

The coat is hard, dense, and wiry, lying straight and close and covering the dog well, with a softer undercoat beneath (AKC). [6]

The head and ears are tan, the ears being a darker shade than the rest of the body (AKC). [6]

The eyes are dark, small, and full of terrier expression, keenness, and intelligence (AKC). [6]

The temperament is outgoing and confident, friendly, courageous, and full of character (FCI). [6]

The tail is set well up on the back and carried gaily but not curled over (AKC). [6]

Akita — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Akita originated in Japan and is classified by the FCI in Group 5 (Spitz and primitive type). [6]

The AKC height is 26 to 28 inches at the withers for males and 24 to 26 inches for bitches (AKC). [6]

AKC disqualifications include dogs under 25 inches and bitches under 23 inches (AKC). [6]

The coat is double, with a thick soft dense undercoat shorter than the straight harsh outer coat (AKC). [6]

Any coloring is permitted including white, brindle, or pinto; merle marking pattern and liver color are disqualifications (AKC). [6]

Further disqualifications are a partial or total lack of nose pigmentation (except on white Akitas), drop or broken ears, a sickle or uncurled tail, and a noticeably undershot or overshot bite (AKC). [6]

The eyes are dark brown, small, deep-set, and triangular, with black tight eye rims (AKC). [6]

The temperament is alert, responsive, dignified, and courageous (AKC). [6]

Alaskan Malamute — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Alaskan Malamute ranks among the most ancient Arctic sled dogs, built powerfully and substantially with a deep chest and a strongly muscled frame (AKC). [6]

For freighting work the preferred measurements are 25 inches tall and 85 pounds in males, and 23 inches with 75 pounds in females (AKC). [6]

The eyes are brown, almond-shaped and of medium size, with darker eyes preferred; blue irises are a disqualifying fault (AKC). [6]

Its coat is thick, with a coarse outer guard layer and a dense, oily, woolly undercoat that runs one to two inches deep (AKC). [6]

Coat colours normally run from light grey through intermediate tones to black, sable and shades of red; all-white is the single solid colour permitted (AKC). [6]

In temperament it is affectionate and friendly rather than devoted to just one person (AKC). [6]

The tail is heavily furred and carried over the back, giving the look of a waving plume (AKC). [6]

FCI records the breed as standard N° 243, originating in the U.S.A., within the fifth group (the Spitz and primitive types group), Section 1 (the Nordic Sledge Dogs section), without a working trial. [6]

American English Coonhound — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The American English Coonhound stands 24 to 26 inches at the withers for males and 23 to 25 inches for females (AKC). [6]

The coat is hard and protective with medium length (AKC). [6]

The permitted colours are red ticked on white, blue ticked on white, tricolour with ticking, red with white, and black with white (AKC). [6]

Disqualifications are an undershot or overshot bite, a tri-colored dog with no ticking, a solid color with less than 10 percent ticking, and any brindle color (AKC). [6]

The temperament is pleasant, alert, confident, and sociable with humans and dogs, and the breed is an avid hunter (AKC). [6]

American Eskimo Dog — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The American Eskimo Dog has three size divisions by height at the withers: Toy 9 to 12 inches, Miniature over 12 to 15 inches, and Standard over 15 to 19 inches (AKC). [6]

A height under 9 inches or over 19 inches is a disqualification (AKC). [6]

The coat is a stand-off white double coat with a dense undercoat and longer straight guard hair, thicker and longer around the neck (AKC). [6]

Pure white is the preferred color, with white and biscuit cream permissible; any other color is a disqualification, as are blue eyes (AKC). [6]

The temperament is intelligent, alert, and friendly but slightly conservative (AKC). [6]

The eyes are slightly oval, dark to medium brown preferred, with black to dark brown eye rims (AKC). [6]

American Foxhound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The American Foxhound originated in the U.S.A. and is classified by the FCI in Group 6 (Scenthounds and related breeds). [6]

The AKC height is 23 to 28 inches for dogs and 21 to 26 inches for bitches (AKC). [6]

The FCI height is 22 to 25 inches (56 to 63,5 cm) for males and 21 to 24 inches (53 to 61 cm) for females (FCI). [6]

The coat is a close, hard hound coat of medium length (AKC; FCI). [6]

Any color is permitted (AKC). [6]

The eyes are large, set well apart, soft and houndlike in expression, of brown or hazel color (AKC). [6]

American Hairless Terrier — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A small-to-medium, smoothly muscled terrier with an ideal height of 12–16 inches. [6]

The breed is hairless but also has a coated form with a short, smooth, dense, sheened coat. [6]

Any colour or combination is allowed except albino or merle; merle and albinism disqualify. [6]

Disqualifying faults are hanging ears, a bobtail or docked tail on the hairless variety, and a wire, broken or long coat on the coated variety. [6]

The temperament is energetic, alert, curious and intelligent. [6]

American Staffordshire Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The American Staffordshire Terrier originated in the U.S.A. and is classified by the FCI in Group 3 (Terriers). [6]

A height of about 18 to 19 inches at the shoulder for males and 17 to 18 inches for females is preferable (AKC). [6]

The FCI height is 46 to 48 cm for males and 43 to 46 cm for females (FCI). [6]

The coat is short, close, stiff to the touch, and glossy (AKC). [6]

Any color is permissible, solid, parti, or patched; an all-white dog of more than 80 percent white is penalized (AKC). [6]

The eyes are dark and round, set low and far apart, with no pink eyelids (AKC). [6]

American Water Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The American Water Spaniel originated in the U.S.A. and is classified by the FCI in Group 8 (Retrievers, Flushing Dogs). [6]

The size is 15 to 18 inches for either sex, with males weighing 30 to 45 pounds and females 25 to 40 pounds (AKC). [6]

The coat ranges from marcel (uniform waves) to closely curled, with an undercoat for protection (AKC). [6]

The color is solid liver, brown, or dark chocolate, with a little white on the toes and chest allowed (AKC). [6]

Yellow eyes are a disqualification (AKC). [6]

The temperament shows intelligence, eagerness to please, and friendliness, with great energy (AKC). [6]

Anatolian Shepherd Dog — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Anatolian Shepherd Dog is large, rugged, powerful, and impressive, possessing great endurance and a calm but bold general impression (AKC). [6]

Dogs should be from 29 inches and weigh 110 to 150 pounds, and bitches from 27 inches and 80 to 120 pounds, with measurements applying at age 2 or older (AKC). [6]

The coat ranges from short (a 1 inch minimum, not tight) to rough (approximately 4 inches), with a thick undercoat and longer neck hair (AKC). [6]

All color patterns and markings are equally acceptable (AKC). [6]

The eyes are medium, almond-shaped, dark brown to light amber; blue eyes or eyes of two different colors are a disqualification (AKC). [6]

Disqualifications are blue eyes or odd-colored eyes, erect ears, and an overshot, undershot, or wry bite (AKC). [6]

The temperament is alert, intelligent, calm, and observant, and instinctively protective (AKC). [6]

Appenzeller Sennenhund — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Appenzeller Sennenhund originated in Switzerland and is classified by the FCI in Group 2 (Pinscher and Schnauzer). [7]

It is a tricolour, medium-sized dog of almost square build and even Spitz type (FCI). [7]

The desired height at the withers is 52 to 56 cm for dogs and 50 to 54 cm for bitches, with a tolerance of plus or minus 2 cm (FCI). [7]

The coat is a double Stockhaar with a thick shiny topcoat and a thick undercoat that may be black, brown, or grey (FCI). [7]

The temperament is lively, high-spirited, and self-. (FCI describes it as lively and self-assured). [7]

The sole disqualifying fault listed is a wall eye (FCI). [7]

Australian Cattle Dog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Australian Cattle Dog originated in Australia and is classified by the FCI in Group 1 (Sheepdogs and Cattle Dogs). [6]

The height is 46 to 51 cm (about 18 to 20 inches) at the withers for dogs and 43 to 48 cm (about 17 to 19 inches) for bitches (AKC; FCI). [6]

The body length to height at the withers ratio is 10 to 9 (AKC; FCI). [6]

The coat is a smooth double coat; the body hair averages 2½ to 4 centimeters (about 1 to 1½ inches) in length (AKC). [6]

Accepted colors are blue (blue, blue-mottled, or blue speckled) and red speckle (AKC). [6]

The eyes are dark brown and the temperament is loyal and protective with strong guarding instincts (AKC). [6]

Australian Kelpie — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Australian Kelpie originated in Australia and is classified by the FCI in Group 1 (Sheepdogs and Cattle Dogs). [7]

The height at the withers is 46 to 51 cm for males and 43 to 48 cm for females (FCI). [7]

The coat is a double coat with a short dense undercoat and a close, straight, hard outer coat; body hair averages 2 to 3 cm (FCI). [7]

The eyes are almond-shaped and medium-sized, brown to harmonize with the coat, with a lighter eye permissible in blue dogs (FCI). [7]

The ears are pricked, running to a fine point, of moderate size (FCI). [7]

The temperament is extremely alert and the breed is built for almost limitless stamina (FCI). [7]

Australian Shepherd — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Australian Shepherd originated in the U.S.A. and is classified by the FCI in Group 1 (Sheepdogs and Cattle Dogs). [6]

The preferred height is 20 to 23 inches for males and 18 to 21 inches for females (AKC). [6]

The coat is of moderate length and coarseness, straight to wavy, and weather resistant (AKC). [6]

Accepted colors are blue merle, black, red merle, and red, all with or without white markings and/or tan (copper) (AKC). [6]

The eyes may be brown, amber, blue, or marbled (AKC). [6]

Disqualifications are an undershot bite, an overshot bite greater than ⅛ inch, and white body splashes between the withers and tail (AKC). [6]

The temperament is intelligent, active, and even in disposition (AKC). [6]

Australian Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Australian Terrier originated in Australia and is classified by the FCI in Group 3 (Terriers), Section 2 (Small-sized Terriers). [6]

The height is 10 to 11 inches at the withers (AKC). [6]

The outer coat is harsh and straight, about 2½ inches all over the body; the undercoat is short and soft (AKC). [6]

Accepted colors are blue and tan, solid sandy, and solid red (AKC). [6]

The eyes are small and dark brown to black, keen in expression (AKC). [6]

The temperament is spirited, alert, courageous, and self-confident (AKC). [6]

Azawakh — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The FCI registers the Azawakh under standard N° 307 and places it in Group 10 (Sighthounds), Section 3 (Short-haired Sighthounds). [6]

The breed originates along the northern borders of Mali and Niger, with France named as the patron country (FCI). [6]

The AKC gives height at the withers as 25 to 29 inches for males and 23 to 27 inches for females, with weights of 44 to 55 pounds (males) and 33 to 44 pounds (females). [6]

The FCI standard gives height at the withers as 64–74 cm for males and 60–70 cm for females, and weight as 20–25 kg (males) and 15–20 kg (females). [6]

The coat is short and fine, thinning to almost none on the belly, over skin that is thin and tight-fitting. [6]

Accepted coat colours are fawn (clear sand through dark mahogany) with or without black brindling, and white markings confined to the extremities. [6]

The stated temperament is quick, attentive and distant, reserved with strangers but gentle and affectionate toward those it accepts. [6]

Barbet — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Barbet, also called the French Water Dog, traces its origin to France. [7]

Under the FCI it is recorded as standard N° 105; it sits in the eighth group, which gathers Retrievers, Flushing Dogs and Water Dogs, and within that in Section 3, the Water Dogs, and is subject to a working trial. [7]

Height at the withers runs 58–65 cm for dogs and 53–61 cm for bitches, allowed to vary by ±1 cm. [7]

The coat is long, of woolly texture and curly, and can fall into strands; it covers the entire body in its natural state. [7]

Permitted colours are solid black, grey, brown, fawn, pale fawn, white, or a coat that is more or less pied. [7]

The disposition is described as even, deeply attached to its owner, sociable, and enthusiastic about water even when it is very cold. [7]

Basenji — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Basenji comes from Central Africa, with Great Britain listed as the patron country (FCI). [6]

The FCI places it in Group 5 (Spitz and primitive types) under standard N° 43. [6]

The AKC gives ideal height as 17 inches for dogs and 16 inches for bitches, with weights of 24 pounds and 22 pounds respectively. [6]

The FCI lists height at 43 cm (17 ins) for dogs and 40 cm (16 ins) for bitches, and weight at 11 kg (24 lbs) for dogs and 9½ kg (21 lbs) for bitches. [6]

The coat is short and fine, and the breed is described as barkless but not mute. [6]

Accepted colours are pure black and white, red and white, black and tan, and tricolor (black, tan and white). [6]

The stated temperament is intelligent and independent yet affectionate and alert. [6]

Basset Fauve De Bretagne — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Basset Fauve de Bretagne originates in France (FCI). [7]

The FCI registers it as standard N° 36 in Group 6 (Scent hounds and related breeds). [7]

Height ranges from a 32 cm minimum to a 38 cm maximum (about 12.6 to 15.5 in), with a 2 cm tolerance allowed for exceptional specimens. [7]

The coat is very rough, harsh and rather short, never woolly or curly. [7]

Accepted colour is fawn, spanning golden wheaten to red brick in hue. [7]

Disqualifying faults include a long woolly coat or any coat colour outside the defined range. [7]

Basset Hound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Basset Hound originates in Great Britain. [6]

The FCI registers it as standard N° 163 in Group 6 (Scent hounds and related breeds). [6]

The AKC states the height should not exceed 14 inches, and a height over 15 inches is a disqualification. [6]

The FCI gives height at the withers as 33–38 cm. [6]

The coat is hard, smooth and short, with enough density to be useful in all weather. [6]

Any recognized hound colour is acceptable, and the distribution of colour and markings is of no importance. [6]

The temperament is that of a tenacious, pack-oriented hound with a deep melodious voice; mild, never sharp or timid. [6]

Bavarian Mountain Scent Hound — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bavarian Mountain Scent Hound originates in Germany (FCI). [7]

The FCI registers it as standard N° 217 in Group 6 (Scenthounds and related breeds). [7]

Height at the withers is 47–52 cm for males and 44–48 cm for females. [7]

Weight ideally runs 20–30 kg for males and 17–25 kg for females. [7]

The coat is dense, close-fitting, moderately harsh and with little gloss. [7]

Colours include deep red, deer red, reddish brown, tan, clear fawn to biscuit, reddish grey, or brindled/black-interspersed. [7]

The temperament is calm and balanced, devoted to its owner and reserved with strangers. [7]

Beagle — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Beagle originates in France. [6]

The FCI registers the breed under standard N° 290. [6]

Height at the withers is 45–50 cm. [6]

The coat is a close, hard hound coat of medium length. [6]

Tri-colour (fawn with a black blanket and white) is accepted; merle and brindle patterns are not permitted. [6]

The eyes are dark and of a frank, lively, intelligent expression, and the tail is set moderately high and carried gaily with a slight curve. [6]

Bearded Collie — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bearded Collie originates in Great Britain. [6]

The FCI registers it as standard N° 271 in Group 1 (Sheepdogs and Cattle Dogs, except Swiss Cattle Dogs). [6]

The AKC gives ideal height at the withers as 21 to 22 inches for dogs and 20 to 21 inches for bitches. [6]

The FCI gives height at the withers as 53–56 cm for males and 51–53 cm for females. [6]

The coat is double: a soft, furry, close undercoat and a flat, harsh, strong, shaggy outercoat free of wooliness and curl (a slight wave is allowed). [6]

All Bearded Collies are born black, blue, brown or fawn (with or without white markings), and the coat may lighten with maturity. [6]

The temperament is alert, lively, self-confident and active. [6]

Beauceron — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The AKC gives size at the withers as 25½ to 27½ inches for males and 24 to 26½ inches for bitches; height outside these limits is a disqualification. [6]

The outer coat is 1¼ to 1½ inches, coarse, dense and close-lying, with a short, fine, dense, downy mouse-gray undercoat. [6]

Accepted colours are Black and Tan and Havana Brown (base colour with tan markings); any other colour is a disqualification. [6]

The temperament is frank and self-assured, never mean, timid or worried. [6]

Disqualifications include a split nose, a nose colour other than black, and an overshot or undershot bite with loss of contact. [6]

Absence of three or more teeth is a disqualification. [6]

Fewer than double dewclaws on each rear leg, or a shaggy coat, are disqualifications. [6]

Bedlington Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bedlington Terrier originates in Great Britain. [6]

The FCI places the breed in Group 3 (Terriers). [6]

The AKC gives height as 16½ inches for dogs and 15½ inches for bitches, with weight proportionate to height at 17 to 23 pounds. [6]

The FCI gives height at the withers as about 41 cm, with weight between 8 and 10 kg. [6]

The coat is a distinctive mixture of hard and soft hair that stands well out from the skin and feels crisp. [6]

Accepted colours are blue, sandy, liver, and the bi-colours blue and tan, sandy and tan, and liver and tan. [6]

The temperament is spirited and game, full of confidence. [6]

Belgian Laekenois — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The AKC gives size at the withers as 24 to 26 inches for males and 22 to 24 inches for females; dogs under 23 or over 27 inches and bitches under 20½ or over 25 inches are disqualified. [6]

The coat is rough and coarse, giving a disorderly, tousled look, about 2½ inches over the body and with a beard on the muzzle. [6]

Accepted colours are all shades of red or fawn to grayish, with traces of black mainly on the muzzle and tail. [6]

The temperament should reflect intelligence, courage, alertness and devotion to the master. [6]

The ears are triangular, stiff and erect; dropped or hanging ears are a disqualification. [6]

A cropped or stump tail is a disqualification. [6]

A silky or soft coat lacking a double coat is severely penalized. [6]

Belgian Malinois — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The coat is comparatively short, straight, hard and weather-resistant, with a dense undercoat; it is very short on the head, ears and lower legs. [6]

The ideal colour is a rich fawn to mahogany with black-tipped hairs giving an overlay, and a dark mask and ears. [6]

Correct temperament is treated as essential to the working character of the breed. [6]

Hound or semi-prick ears are a disqualification (erect ears are required). [6]

The skull and muzzle are roughly equal in length. [6]

Belgian Sheepdog — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The coat guard hairs are long, well-fitting, straight and abundant, of medium harshness and not silky or wiry, with a dense undercoat. [6]

The colour is black, possibly with limited white on the chest, toes, chin and muzzle. [6]

The temperament reflects intelligence, courage, alertness and devotion to the master. [6]

Hanging (hound-like) ears are a disqualification. [6]

Any colour other than black (outside the allowed white markings) is a disqualification. [6]

Belgian Tervuren — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The AKC gives ideal size at the withers as 24 to 26 inches for males and 22 to 24 inches for females; dogs under 23 or over 26½ inches and bitches under 21 or over 24½ inches are disqualified. [6]

The coat guard hairs are long, close-fitting, straight and abundant, of medium harshness, with a very dense undercoat. [6]

The body colour is a rich fawn to russet mahogany with a black overlay; a pale, washed-out cream or gray is a fault. [6]

The temperament is observant and vigilant with strangers, but not apprehensive. [6]

White on the chest/sternum beyond 3 inches, or on the chin or muzzle, is a disqualification. [6]

An undershot bite is a disqualification. [6]

Berger Picard — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The AKC gives size at the withers as 23½ to 25½ inches for males and 21½ to 23½ inches for females; dogs under 22½ or over 26½ inches and bitches under 20½ or over 24½ inches are disqualified. [6]

The coat feels harsh and crisp, neither flat nor curly though often lightly waved, lying over a soft, short, dense undercoat. [6]

A coat length over 4 inches in any location is penalized, with longer coats penalized more severely. [6]

Accepted colours are fawn or brindle. [6]

The temperament is lively, alert, observant and confident, even-tempered, though may be aloof with strangers. [6]

Yellow eyes are a disqualification. [6]

An undershot or overshot bite with loss of contact is a disqualification. [6]

Bernese Mountain Dog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A Swiss farm dog (FCI standard 45) in Group 2, covering Pinscher and Schnauzer type, Molossoid breeds and Swiss Mountain and Cattle Dogs, in Section 3 (Swiss Cattle Dogs), with no working trial; once a guard, draught and cattle dog, now also a family dog. [6]

Size: AKC height 25–27½ in dogs, 23–26 in bitches; FCI 64–70 cm dogs (ideal 66–68) and 58–66 cm bitches (ideal 60–63). The body is slightly longer than tall. [6]

The coat is thick and moderately long, straight or a little wavy, with a bright natural sheen; it is shown untrimmed, and a very curly or dull coat is unwanted. [6]

Colour is tricolour: a jet-black base with rich tan marks on the cheeks, above the eyes, the legs and chest, plus white on the blaze, muzzle band, chest (often an inverted cross), feet and tail tip; white legs or a white collar are faults. [6]

Temperament is self-assured, alert and good-natured, never sharp or shy; the FCI adds that it is vigilant, fearless, devoted to its family and placid with strangers. [6]

Disqualifications include a blue eye, a split nose, overshot/undershot/wry mouth, entropion/ectropion, a kinky or ring tail, a short or double coat, any coat other than tricolour, and any base colour other than black. [6]

Bichon Frise — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bichon Frise has Franco-Belgian origins, with patronage given to France and Belgium. [6]

The FCI registers the breed under standard N° 215. [6]

Height at the withers is 25 to 29 cm, with weight approximately 5 kg in proportion to size. [6]

The coat is profuse: the outer coat forms loose spiral curls over a soft, dense undercoat, and is neither flat, corded nor woolly. [6]

The colour is pure white; dogs under 12 months may show shadings of buff, cream or apricot around the ears or body. [6]

The temperament is gentle, sensitive, playful and affectionate, with a characteristically cheerful attitude. [6]

Disqualifications include any colour other than white in dogs over 12 months, light or wall eyes, and size outside the tolerated measurements. [6]

Black And Tan Coonhound — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Black and Tan Coonhound originates in the USA. [7]

The FCI registers it as standard N° 300 in Group 6 (Scent hounds and related breeds). [7]

Height at the shoulder is 63,5 to 68,5 cm (25 to 27 ins) for males and 58 to 63,5 cm (23 to 25 ins) for females. [7]

The coat is short but dense enough to withstand rough going. [7]

The colour is coal black with rich tan markings above the eyes, on the muzzle, chest, legs and breeching, with black pencil markings on the toes. [7]

The temperament is even, outgoing and friendly. [7]

Disqualifying faults include undersize and a lack of rich tan markings or excessive tan areas. [7]

Black Russian Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed originated and is patrolled in Russia, registered as FCI standard N° 327, Group 2. [6]

The AKC height is 27–30 inches for males (desired 27–29) and 26–29 for females (desired 26–28); the FCI gives 72–76 cm for males and weights of 50–60 kg (males) and 45–50 kg (females). [6]

The coat is a rough, thick double coat: a coarse, slightly waved outer layer over a soft, short, dense undercoat, naturally 1½ to 6 inches long. [6]

Only solid black, or black with scattered gray hairs, is allowed. [6]

The temperament is stable, reliable, self-confident and dignified. [6]

Disqualifying faults are a nose colour other than black, two or more missing teeth, any bite but scissors, and any coat colour besides black or black-with-gray. [6]

Bloodhound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bloodhound (Chien de Saint-Hubert) originates in Belgium. [6]

The FCI registers it as standard N° 84 in Group 6 (Scent hound and related breeds). [6]

The AKC gives mean height as 26 inches for dogs (ranging 25–27) and 24 inches for bitches (23–25), with mean weight 90 pounds for dogs and 80 pounds for bitches (reaching 110 and 100 pounds). [6]

The FCI gives height at the withers as 68 cm for males and 62 cm for females (tolerance 4 cm), with weight 46–54 kg for males and 40–48 kg for females. [6]

The coat on the body is short, dense, quite harsh and weatherproof. [6]

Accepted colours are black and tan, liver and tan, and red. [6]

Disqualifying faults include light yellow (hawk) eyes, washed-out colours, and size outside the tolerated limits. [6]

Blue Picardy Spaniel — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Blue Picardy Spaniel originates in France. [7]

The FCI registers it as standard N° 106 in Group 7 (Pointing Dogs). [7]

Height at the withers is 57 to 62 cm for males and 55 to 60 cm for females, with a tolerance of ±2 cm (considered undesirable). [7]

The coat is flat or slightly wavy. [7]

The colour is silver grey to grey-black speckled, forming a bluish shade, with or without black patches. [7]

An atypical coat (white or brown patches) is a disqualifying fault. [7]

Bluetick Coonhound — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The AKC gives height at the withers as 22 to 27 inches for males and 21 to 25 inches for females; dogs under 22 or over 27 inches and bitches under 21 or over 25 inches are disqualified. [6]

The coat is medium coarse, lying close to the body, appearing smooth and glossy, not rough. [6]

The preferred colour is a dark blue, thickly mottled body spotted with various shaped black markings; there should be more blue ticking than white, and no other colours are allowed. [6]

Any colour other than described, and albinism, are disqualifications. [6]

Undershot or overshot bite are disqualifying faults. [6]

In motion the dog carries head and tail well up, with clear, keen eyes. [6]

Boerboel — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A large South African mastiff developed from farm dogs of the seventeenth-century settlers; protective, calm, stable and confident, it is strong and muscular with powerful free-flowing movement. [6]

Preferred height is 24–27 inches for dogs and 22–25 inches for bitches; the body is slightly longer than tall in roughly a 10-to-9 ratio, and balance matters more than absolute size. [6]

The short dense coat is shiny and smooth; colours include red, brown, reddish brown, fawn and cream, plus brindle (in any accepted colour) and Irish marking, with a black mask preferred and only limited clear white on the legs and forechest. [6]

The head is blocky, broad, deep and square, with fully black nostrils; the eyes are medium and preferably dark brown. [6]

Temperament is dominant and clever, with a strong guarding instinct and an eagerness to please; calm and confident, sometimes aloof, yet affectionate with family. [6]

Faults include being severely out of proportion, reversal of sex characteristics, and yellow (bird-of-prey) eyes. [6]

Disqualifications: blue eye(s), entropion or ectropion, undershot beyond ¼ inch or overshot bite, wry mouth, prick ears, a blue (powder) coat, a base colour not listed, a long coat, a nose leather not black, and white exceeding 33 percent of the dog (or ticking within the white). [6]

Bolognese — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bolognese originates in Italy. [7]

Height at the withers is 27–30 cm for males and 25–28 cm for females, with weight 2.5–4 kg. [7]

The coat is long all over the body, from head to tail and from the top line to the feet. [7]

The colour is pure white; very slight shades of ivory are not disqualifying. [7]

The temperament is very serene and generally not very active. [7]

Disqualifying sizes are males under 25 cm or over 33 cm and females under 22 cm or over 32 cm. [7]

Border Collie — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Border Collies originated in the Border country between Scotland and England (Great Britain). [6]

Under FCI classification the breed is placed in Group 1 (Sheepdogs and Cattle Dogs, except Swiss Cattle Dogs). [6]

The FCI standard gives the ideal height at the withers as 53 cm (21 in) for males, with females slightly less; the AKC standard gives 19–22 in for males and 18–21 in for females. [6]

The body is slightly longer than its height at the withers. [6]

Two coat varieties are permitted — rough (moderately long) and smooth — both close-fitting, dense, weather-resistant double coats with a straight or slightly wavy topcoat. [6]

All colours and combinations are acceptable and judged equally; white is permissible but should not predominate. [6]

The breed is described as energetic, intelligent, keen, alert and responsive. [6]

Border Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Border Terrier originated in Great Britain. [6]

The FCI standard is numbered N° 10. [6]

It is classified in FCI Group 3 (Terriers). [6]

Males weigh 5,9-7,1 kg (13-15 ½ lbs) and bitches 5,1-6,4 kg (11 ½-14 lbs). [6]

The coat has a short dense undercoat beneath a very wiry, somewhat broken topcoat that lies close. [6]

Accepted colours are red, grizzle and tan, blue and tan, or wheaten. [6]

The temperament exemplifies that of a terrier: good-tempered, affectionate and easily trained. [6]

Borzoi — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Borzoi originated in Russia. [6]

The FCI standard is numbered N° 193. [6]

It is placed in FCI Group 10 (Sighthounds). [6]

The breed is used as a hunting sighthound, racing and coursing hound. [6]

The coat is long and silky (not woolly), either flat, wavy or rather curly. [6]

Any colour or combination of colours is acceptable. [6]

In males the height at the withers equals or exceeds the height at the sacrum by 1-2 cm; in females the two heights are equal. [6]

The temperament is calm. [6]

Boston Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The FCI standard is numbered N° 140. [6]

Weight is divided into classes, including Under 15 pounds and 15 pounds and over. [6]

The coat is short, smooth, bright and fine in texture. [6]

Accepted colours are brindle, seal, or black with white markings. [6]

Disqualifications include blue eyes, a Dudley nose, a docked tail, and solid black, brindle or seal coats lacking required white markings. [6]

The temperament is friendly and lively. [6]

Bouvier De Ardennes — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bouvier des Ardennes originated in Belgium. [7]

The FCI standard is numbered N° 171. [7]

It is classified in FCI Group 1 (Sheep and cattle dogs). [7]

The topcoat is dry, coarse and tousled, about 6 cm long over the body. [7]

All colours are acceptable except white. [7]

Males stand 56-62 cm at the withers and weigh 28-35 kg. [7]

Bouvier Des Flandres — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bouvier des Flandres originated in Belgium-France. [7]

The FCI standard is numbered N° 191. [7]

It is classified in FCI Group 1 (Sheepdogs and Cattle Dogs). [7]

The coat is very abundant, with an outercoat forming a protective layer over a dense undercoat. [7]

The coat is usually grey or brindle. [7]

Males stand 62-68 cm at the withers, with an ideal size around 65 cm. [7]

Males weigh approximately 35-40 kg. [7]

Boxer — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Boxer originated in Germany. [6]

The FCI standard is numbered N° 144. [6]

It is classified in FCI Group 2 (Pinscher and Schnauzer, Molossoid breeds). [6]

Adult males measure 23-25 inches and females 21½-23½ inches at the withers. [6]

The coat is short, shiny, lying smooth and tight to the body. [6]

Accepted colours are fawn and brindle. [6]

Disqualifications include any colour other than fawn or brindle, and white markings exceeding one-third of the entire coat. [6]

The temperament is fearless, self-confident, calm and equable. [6]

Bracco Italiano — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bracco Italiano originated in Italy. [7]

The FCI standard is numbered N° 202. [7]

It is classified in FCI Group 7 (Pointing Dogs). [7]

It is used as a pointing dog. [7]

The coat colour is white with patches of orange or amber-brown. [7]

The temperament is tough and adapted to all types of terrain. [7]

Braque Du Bourbonnais — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Braque du Bourbonnais originated in France (the Province of Bourbonnais). [7]

The FCI standard is numbered N° 179. [7]

The white coat carries fine brown ticking, with an overall roan colour also accepted. [7]

Dogs stand 51-57 cm at the withers. [7]

Disqualifications include a coat that is entirely white and a height at the withers outside the standard by ±3 cm. [7]

Braque Saint Germain — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Braque Saint Germain originated in France. [7]

The FCI standard is numbered N° 115. [7]

The coat is fawn and white, without any black. [7]

The colour is dull white with orange (fawn) markings and some mottling. [7]

The temperament is that of a hunter above all, very attached to its owner. [7]

Brazilian Terrier — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Brazilian Terrier originated in Brazil. [7]

The FCI standard is numbered N° 341. [7]

The ground colour is predominantly white with black, blue, brown or tan markings. [7]

Males stand 35-40 cm at the withers. [7]

Weight is approximately 10 kg. [7]

The temperament is restless, alert, active and keen. [7]

Briard — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Briard originated in France. [6]

The FCI standard is numbered N° 113. [6]

Males measure 23-27 inches and bitches 22-25½ inches at the withers. [6]

The outer coat is coarse, hard and dry; the undercoat is fine and tight. [6]

All uniform colours are permitted except white (including black, grey, tawny, and combinations). [6]

Disqualifications include being under the minimum size, yellow or spotted eyes, any nose colour other than black, and a white or spotted coat. [6]

The temperament is that of a dog of heart: wise and fearless with no trace of mean spirit. [6]

Brittany — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Brittany is a compact, closely knit dog of medium size. [6]

Height is 17½-20½ inches measured from the ground to the withers. [6]

Weight should be between 30 and 40 pounds. [6]

The coat is dense, flat or wavy, never curly. [6]

Accepted colours are orange and white or liver and white in clear or roan patterns. [6]

The temperament is happy and alert, neither mean nor shy. [6]

Broholmer — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Broholmer originated in Denmark. [7]

The FCI standard is numbered N° 315. [7]

The coat is short and close lying with an undercoat. [7]

The colour is yellow with or without a black mask, or red with or without a mask. [7]

Males stand about 75 cm and weigh 50-70 kg; bitches about 70 cm and 40-60 kg. [7]

Disqualifying faults include eyes of different colour and a long-haired coat. [7]

Brussels Griffon — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Brussels Griffon is a small dog, usually weighing 8-10 pounds and not exceeding 12 pounds. [6]

There are two coat types: a rough wiry dense coat and a smooth straight short tight glossy coat. [6]

Accepted colours include reddish brown and black with tan markings. [6]

A white spot or blaze anywhere on the coat is a disqualification. [6]

The temperament is intelligent, alert and sensitive, full of self-importance. [6]

Its smooth variety lies straight, short, tight and glossy, showing no wiry hair at all. [6]

Bull Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bull Terrier originated in Great Britain. [6]

The FCI standard is numbered N° 11. [6]

The coat is short, flat, harsh to the touch and with a fine gloss. [6]

The White variety is pure white; the Coloured variety may be any colour other than white, or any colour with white markings (brindle preferred). [6]

There are neither weight nor height limits, but the dog should give the impression of maximum substance for its size. [6]

The temperament is courageous, full of spirit, with a fun-loving attitude and even temperament. [6]

Bulldog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bulldog originated in Great Britain. [6]

The FCI standard is numbered N° 149. [6]

The size for mature dogs is about 50 pounds. [6]

The coat is straight, short, flat, close and of fine texture, smooth to the touch. [6]

The colour of coat should be uniform, pure of its kind and brilliant. [6]

Disqualifications include blue or green eyes, a brown or liver-coloured nose, and colours outside the accepted range. [6]

The disposition is equable and kind, resolute and courageous, pacific and dignified. [6]

Bullmastiff — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Bullmastiff originated in Great Britain. [6]

The FCI standard is numbered N° 157. [6]

Dogs measure 25-27 inches at the withers and weigh 110-130 pounds; bitches 24-26 inches and 100-120 pounds. [6]

The coat is short and dense, giving good weather protection. [6]

Accepted colours are red, fawn, or brindle. [6]

The temperament is fearless and confident yet docile. [6]

Cairn Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Cairn Terrier originated in Great Britain. [6]

The FCI standard is numbered N° 4. [6]

The coat is hard and weather-resistant, double-coated with a profuse harsh outer coat and a short soft undercoat. [6]

Any colour is permitted except white. [6]

The height at the withers is about 28-31 cm (11-12 ins); dogs weigh about 14 pounds and bitches about 13 pounds. [6]

Canaan Dog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Canaan Dog originated in Israel (the Land of Canaan). [6]

The FCI standard is numbered N° 273. [6]

It is classified in FCI Group 5 (Spitz and primitive types). [6]

Height at the withers is 20-24 inches for dogs and 19 inches and up for bitches. [6]

The coat is a double coat with a straight, harsh, flat-lying outer coat. [6]

Two colour patterns are recognised: predominantly white with a mask, or solid coloured with or without white trim. [6]

Disqualifications include grey and/or brindle colouring and an all-white coat. [6]

The temperament is alert, vigilant, devoted and docile with family. [6]

Canadian Eskimo Dog — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Canadian Eskimo Dog originated in Canada. [7]

The FCI standard is numbered N° 211. [7]

The outer coat is thick and dense, with guard hairs that are hard and stiff, varying from 3-6 inches (7-15 cm) in length. [7]

No one colour or colour pattern should dominate the breed. [7]

The temperament reflects a primitive dog originally domesticated by the Inuit for specific tasks. [7]

Cane Corso — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

An Italian Molossian (FCI standard 343) in Group 2, covering Pinscher and Schnauzer, Molossoid and Swiss Mountain and Cattledogs, in Section 2.1 (the Molossian, Mastiff type), with a working trial; a versatile utility dog and guardian of property, family and livestock. [6]

Size: AKC height 25–27½ in for dogs, 23½–26 in for bitches; FCI gives 64–68 cm (dogs) and 60–64 cm (bitches), weighing 45–50 kg and 40–45 kg. The build is rectangular, slightly longer than tall. [6]

The coat is short, stiff and glossy, lying close and dense, with a light undercoat that thickens in cold weather. [6]

Colour: black, grey (light to dark), fawn (light to dark) and red, all with brindling allowed; solid fawn and red carry a black or grey mask that stays within the eyes. Small white marks on the chest, toes or nose bridge are allowed. [6]

Disqualifications include any coat with black-and-tan style tan markings, yellow bird-of-prey or blue eyes, more than two missing teeth, a wry or overshot mouth, undershot beyond ¼ inch, and a twisted or atrophied natural tail. [6]

Temperament: an unequalled guardian of home and family, intelligent and easily trained, noble and powerful yet docile and affectionate with its owners and children. [6]

Cardigan Welsh Corgi — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Cardigan Welsh Corgi originated in Great Britain. [6]

The FCI standard is numbered N° 38. [6]

The coat is of medium length but dense, being a double coat with a soft thick undercoat. [6]

Colours accepted: red, sable and brindle in every shade, black (with or without tan or brindle points), and blue merle. [6]

Disqualifications include blue eyes (except in blue merle), drop ears, and a body colour predominantly white. [6]

The temperament is even-tempered, loyal, affectionate and adaptable, never shy or vicious. [6]

Caucasian Shepherd Dog — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Caucasian Shepherd Dog originated in the USSR. [7]

The FCI standard is numbered N° 328. [7]

The coat is straight, coarse and stand-off, with a well-developed undercoat; guard and undercoat should be at least 5 cm long. [7]

Any solid, piebald or spotted colour is permitted except solid liver brown. [7]

Desirable height is 72-75 cm for males and 67-70 cm for females; males have a minimum weight of 50 kg. [7]

Cavalier King Charles Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Cavalier King Charles Spaniel originated in Great Britain. [6]

The FCI standard is numbered N° 136. [6]

Height is 12-13 inches at the withers; weight is 5,4-8 kg (12-18 lbs). [6]

The coat is of moderate length, silky and free from curl. [6]

Four colours are recognised: Blenheim, Tricolour, Ruby, and Black and Tan. [6]

Cesky Terrier — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Cesky Terrier is a small terrier with a soft, long, silky coat. [6]

Ideal height at the withers is 10-13 inches. [6]

Ideal weight is between 16 and 22 pounds, bitches slightly less. [6]

Mature dogs are any shade of gray from charcoal to platinum; puppies are born black or black and tan. [6]

The correct coat is clipped to emphasize a slim impression. [6]

Chesapeake Bay Retriever — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

An American retriever developed along the Chesapeake Bay for waterfowl work; FCI standard 263 places it in Group 8 (Retrievers, with Flushing Dogs–Water Dogs), Section 1 Retrievers, with a working trial. [6]

Height at the withers: males 23–26 inches (58–66 cm), females 21–24 inches (53–61 cm). Weight: males 65–80 lb (29.5–36.5 kg), females 55–70 lb (25–32 kg). [6]

The double coat is short and dense, never longer than about 1½ inches (4 cm), lying over a fine, woolly, oily undercoat; the harsh outer coat may wave only on the shoulders, neck, back and loins. [6]

Allowed colours are brown, sedge or deadgrass, with one even colour preferred; a small white mark on the chest, belly, toes or rear of the feet is permitted. [6]

Faults (weighed by how far they depart from the standard and harm health or work) include weak breed type, an overshot or undershot bite, and hind-leg dewclaws. [6]

Disqualifications: a coat that is curly or tends to curl over the whole body; feathering on the tail or legs beyond 1¾ inches (4.5 cm); a black coat; or white anywhere on the body except the chest, belly, toes or back of the feet. [6]

Chihuahua — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Chihuahua originated in Mexico. [6]

The FCI standard is numbered N° 218. [6]

Weight should not exceed 6 pounds; a dog over 6 pounds is disqualified. [6]

Two coat varieties exist: a smooth coat (soft, close and glossy) and a long coat (soft, flat or slightly wavy). [6]

Any colour is permitted, solid, marked or splashed. [6]

The temperament is alert, projecting terrier-like self-importance and confidence. [6]

Chinese Crested — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Chinese Crested originated in China. [6]

The FCI standard is numbered N° 288. [6]

Ideal height at the withers is 28-33 cm for males and 23-30 cm for females. [6]

Two varieties exist: the Hairless (hair on head, feet and tail) and the Powderpuff (completely covered with a double soft silky coat). [6]

Any colour or combination of colours is permitted. [6]

The temperament is gay and alert. [6]

Chinese Shar Pei — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Chinese Shar-Pei is an alert, compact dog of medium size, square in profile. [6]

The height is 18-20 inches at the withers. [6]

The standard states the weight begins at 45 pounds. [6]

The extremely harsh coat ranges from a very short horse coat up to a brush coat not exceeding 1 inch in length at the withers. [6]

Only solid colours and sable are acceptable. [6]

Disqualifying colours include albino, brindle, parti-coloured and spotted patterns. [6]

The tongue is solid bluish-black, preferred in all colours except dilute, which have lavender pigmentation. [6]

Chinook — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

An American sled dog bred for both drafting and racing, joining the power of freighting breeds with the speed of lighter racing dogs; it is slow to mature, often not adult until 4–5 years. [6]

Size: ideal height at the withers is 24–27 in for males and 22–25 in for females; the body is slightly longer than tall. [6]

The coat is a thick double layer lying close to the body: a straight, strong, coarse outer hair (longer over the ruff, shoulders, breeches and tail underside) above a short dense downy undercoat; the dog is shown untrimmed. [6]

Colour is tawny, from honey to deep reddish-gold, with darker ears and muzzle preferred and limited white or cream marks on the cheeks, throat, chest, breeches and underside allowed; any colour outside tawny is a disqualification. [6]

Eyes may be any brown shade (dark preferred); an eye colour other than brown is a disqualification. Ears are medium, V-shaped and a little rounded at the tip. [6]

Chow Chow — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Chow Chow is an ancient breed of northern Chinese origin, squarely built and of Arctic type. [6]

The average height of adult specimens is 17-20 inches at the withers. [6]

Two coat types exist: a rough coat (abundant, dense, straight, offstanding, with a wooly undercoat) and a smooth coat (hard, dense, smooth, with a definite undercoat). [6]

Five colours are recognised: red, black, blue, cinnamon and cream. [6]

The temperament shows keen intelligence, an independent spirit and innate dignity. [6]

The tongue is a solid blue-black, the darker the better. [6]

Clumber Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Clumber Spaniel originated in Great Britain. [6]

The FCI standard is numbered N° 109. [6]

It is classified in FCI Group 8 (Retrievers, Flushing dogs). [6]

Ideal height is 18-20 inches for dogs and 17-19 inches for bitches. [6]

The body coat is dense, straight and flat, of good weather-resistant texture. [6]

The Clumber is primarily white with lemon or orange markings. [6]

Ideal weight for males is 29,5-34 kg. [6]

The temperament is gentle, loyal and affectionate. [6]

Cocker Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Cocker Spaniel is a moderately coated sporting dog. [6]

The ideal height at the withers is 15 inches for dogs and 14 inches for bitches; a dog over 15½ inches or a bitch over 14½ inches is disqualified. [6]

The coat is silky, flat or slightly wavy, with enough undercoating. [6]

Colour varieties are Black, Any Solid Color Other than Black (ASCOB), and Parti-Color. [6]

Disqualifications include excessive height, blue or marbled eyes, and colours outside the accepted range. [6]

The temperament is equable, with no suggestion of timidity. [6]

Collie — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Collie originated in Great Britain. [6]

The FCI standard is numbered N° 271. [6]

Dogs stand 22-24 inches at the shoulder and weigh 50-65 pounds. [6]

The Rough variety has an abundant, straight, harsh outer coat with a soft undercoat; the Smooth variety has a short, hard, dense, flat coat. [6]

Four recognised colours are Sable and White, Tri-color, Blue Merle, and White. [6]

The Rough Collie's abundant, properly textured coat is the crowning glory of the breed. [6]

Coton De Tulear — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Coton de Tulear originated in Madagascar. [7]

The FCI standard is numbered N° 283. [7]

The coat is cotton-textured, dense and profuse, never hard or rough. [7]

The ground colour is white, with a few slight shadings of light grey or red-roan. [7]

The temperament is happy and adaptable to all ways of life. [7]

Disqualifying faults include size and weight outside the requirements and heavily marked coats or definite black markings. [7]

Curly Coated Retriever — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

One of the oldest retrieving breeds, developed in Great Britain as a versatile hunting retriever; FCI places it in Group 8 (Retrievers), Section 1, with working trial (standard N° 110). [6]

Ideal height at the withers is 25–27 inches for dogs and 23–25 inches for bitches (FCI: 69 cm dogs, 64 cm bitches); a clearly superior dog just outside this range should not be faulted for size. [6]

The coat is the breed's hallmark: a dense mass of small, tight, crisp curls lying close to the skin, water-resistant, extending up the neck and down the legs and tail; elsewhere the coat is short, smooth and straight. [6]

Allowed colours are black or liver; a few white hairs are acceptable but a prominent white patch is undesirable. [6]

The head is a longer-than-wide wedge with almond eyes (black or brown in black dogs, brown or amber in liver dogs) and a scissors bite. [6]

Faults: a patch of uncurled hair behind the withers or any bald patch is severely penalized; sparse, silky, fuzzy or brittle hair is a fault; shyness is a fault and shying from show-ring examination should be penalized. [6]

Czechoslovakian Vlciak — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Czechoslovakian Vlciak originated in the former Czechoslovakian Republic. [7]

The FCI standard is numbered N° 332. [7]

The coat is straight and close; in winter an immense undercoat predominates, forming a thick coat all over the body. [7]

The colour is yellowish-gray to silver-gray with a characteristic light mask. [7]

Dogs are at least 65 cm at the withers and at least 26 kg in weight. [7]

The temperament is lively, very active and capable of endurance. [7]

Dachshund — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Dachshund is bred in two sizes, standard and miniature (11 pounds and under at 12 months of age and older). [6]

The standard size usually weighs between 16 and 32 pounds. [6]

Three coat varieties exist: Smooth, Wirehaired, and Longhaired. [6]

Colour patterns include one-coloured (for example red), two-coloured, dapple (merle), brindle, and piebald. [6]

The temperament is clever, lively and courageous to the point of rashness. [6]

The eyes are medium sized, almond-shaped and dark-rimmed, with an energetic pleasant expression. [6]

Dalmatian — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed originated in Croatia and is FCI standard N° 153, Group 6 (scenthounds and related breeds). [6]

The desirable height at the withers is 19–23 inches; any dog over 24 inches is disqualified. [6]

The coat is short, dense, fine and close-fitting, neither woolly nor silky. [6]

The ground colour is pure white, with dense black spots (black-spotted) or liver-brown spots (liver-spotted). [6]

The character is steady and friendly, yet carries dignity; a shy disposition is treated as a serious fault. [6]

Disqualifying faults include being over 24 inches, an overshot or undershot bite, any spot colour other than black or liver, tricolour, and patches. [6]

Dandie Dinmont Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Dandie Dinmont Terrier originated in Great Britain. [6]

The FCI standard is numbered N° 168. [6]

Height is 8-11 inches at the top of the shoulder; the preferred weight is 18-24 pounds. [6]

The body coat is about two inches long, termed pily or pencilled, with a soft undercoat. [6]

The colour is pepper (dark bluish black to silvery) or mustard (reddish brown to pale fawn). [6]

The temperament is independent, determined, reserved and intelligent. [6]

Danish Swedish Farmdog — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Danish Swedish Farmdog originated in Denmark and Sweden. [7]

The FCI standard is numbered N° 356. [7]

It is classified in FCI Group 2 (Pinscher and Schnauzer types). [7]

White dominates the coat, with patches of different colours, sizes and shapes. [7]

Males stand 34-37 cm at the withers. [7]

The temperament is alert, attentive and lively. [7]

Deutscher Wachtelhund — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Deutscher Wachtelhund originated in Germany. [7]

The FCI standard is numbered N° 104. [7]

The coat is long or smooth long, with a thick undercoat. [7]

The breed is bred in two colour varieties: brown roan (or more seldom red roan) and pied patterns with a white base and large brown or red patches. [7]

Dogs stand 48-54 cm at the withers; weight varies between 18 and 25 kg according to size. [7]

The temperament is lively and passionate for hunting. [7]

Doberman Pinscher — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Dobermann originated in Germany and is recognised under FCI Standard N° 143. [6]

FCI classifies the breed in Group 2 (Pinscher and Schnauzer, Molossian type). [6]

AKC height at the withers is 26 to 28 inches for dogs (ideal about 27½ inches) and 24 to 26 inches for bitches (ideal about 25½ inches). [6]

FCI height at the withers is 68 to 72 cm for males and 63 to 68 cm for females. [6]

FCI weight is about 40 to 45 kg for males and 32 to 35 kg for females. [6]

A full dentition of 42 correctly placed teeth is required; distemper teeth are not penalised. [6]

The coat is smooth-haired, short, hard, thick and close lying. [6]

Accepted colours are black, red, blue and fawn (Isabella), all with rust-red markings. [6]

Temperament is described as energetic, watchful, determined, alert, fearless, loyal and obedient. [6]

Disqualifying faults include an overshot bite exceeding 3/16 of an inch, an undershot bite exceeding 1/8 of an inch, four or more missing teeth, and any dog not of an allowed colour. [6]

Dogo Argentino — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Dogo Argentino originated in Argentina and is covered by FCI Standard N° 292. [7]

FCI places the breed in Group 2 (Schnauzer and Pinscher, Molossian and Swiss Mountain Dogs). [7]

The coat is uniform, short and smooth, with an average hair length of 1.5 to 2 cm. [7]

The only accepted colour is entirely white, allowing just one black or dark patch on the head proportional to its size. [7]

FCI height at the withers is 60 to 68 cm for dogs and 60 to 65 cm for bitches, with ideal heights of 64 to 65 cm (dogs) and 62 to 64 cm (bitches). [7]

Weight is approximately 40 to 45 kg for males and 40 to 43 kg for bitches. [7]

The breed was recognised as a distinct breed by the FCA (Federación Cinológica Argentina) in 1964. [7]

Temperament is described as silent on the trail, with a keen nose, agility, robustness and bravery. [7]

Dogue De Bordeaux — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed comes from France and is FCI standard N° 116, Group 2. [7]

Height at the withers is 60–68 cm for males and 58–66 cm for females (tolerating 1 cm under and 2 cm over); the chest girth exceeds the height by 25–35 cm, with minimum weights of 50 kg (dogs) and 45 kg (bitches). [7]

The coat is fine, short and soft to the touch. [7]

Eye colour runs from hazel to dark brown in black-masked dogs, with lighter shades allowed in brown-masked or unmasked animals. [7]

Drentsche Patrijshond — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Drentsche Patrijshond was developed in The Netherlands and is covered by FCI Standard N° 224. [6]

FCI places the breed in Group 7 (Pointing Dogs). [6]

FCI height at the withers is 58 to 63 cm for males and 55 to 60 cm for females; AKC heights are 23 to 25 inches (males) and 21.5 to 23.5 inches (females). [6]

FCI weight is 30 to 35 kg for males and 25 to 31 kg for females. [6]

The coat is dense, well covering and non-curling, giving the impression of a longer-haired dog through feathering. [6]

Coat colour ranges from rich dark mahogany brown through milk-chocolate to lighter browns, often with white (schimmel) markings. [6]

Ideally white should make up more than fifty percent of the coat. [6]

The desired eye colour is amber, neither dark nor the light colour of a bird of prey. [6]

Drever — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was developed in Sweden and is FCI standard N° 130 (published 27.07.2021), Group 6, small-sized hounds section 1.3. [7]

The ideal height is 35 cm for males (allowed 32–38) and 33 cm for females (allowed 30–36). [7]

The coat is harsh, straight and close-lying. [7]

Any colour with white markings is permitted. [7]

The temperament is a keen, even-tempered hound. [7]

Dutch Shepherd — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Dutch Shepherd was developed in The Netherlands and is covered by FCI Standard N° 223. [6]

FCI classifies it in Group 1 (Sheepdogs and Cattle Dogs). [6]

FCI height at the withers is 57 to 62 cm for males and 55 to 60 cm for females. [6]

AKC height is 22½ to 24½ inches for males and 21½ to 23½ inches for females, with males under 21 or over 26 inches and females under 20 or over 25 inches disqualified. [6]

The only accepted colour is brindle. [6]

The breed is expected to show loyalty, reliability, alertness and watchfulness. [6]

English Cocker Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The English Cocker Spaniel originated in Great Britain and is covered by FCI Standard N° 5. [6]

FCI places it in Group 8 (Retrievers, Flushing Dogs, Water Dogs). [6]

AKC height at the withers is 16 to 17 inches for males and 15 to 16 inches for females. [6]

AKC desirable weights are 28 to 34 pounds for males and 26 to 32 pounds for females. [6]

FCI height is approximately 39 to 41 cm for males and 38 to 39 cm for females, with weight about 13 to 14,5 kg. [6]

The coat is short and fine on the head and of medium length on the body, flat or slightly wavy and silky in texture. [6]

English Foxhound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The English Foxhound originated in Great Britain and is covered by FCI Standard N° 159. [6]

FCI classifies it in Group 6 (Scenthounds and related breeds). [6]

Height at the withers is approximately 58 to 64 cm. [6]

The coat is short, dense, hard and glossy. [6]

Any recognised hound colour and markings are acceptable. [6]

The breed is noted for stamina, endurance and a natural ability to hunt. [6]

English Setter — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The English Setter originated in Great Britain and is covered by FCI Standard N° 2. [6]

FCI places it in Group 7 (Pointing Dogs). [6]

FCI height at the withers is 65 to 68 cm for dogs (25,5 to 27 inches) and 61 to 65 cm for bitches (24 to 25,5 inches). [6]

The coat is flat, without curl or wooliness. [6]

The base colour is white with intermingling darker hairs producing belton markings ranging from clear flecking to roan shading. [6]

The breed is gentle, affectionate and friendly, without shyness, fear or viciousness. [6]

English Springer Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A British flushing and retrieving spaniel (FCI standard 125) placed in FCI Group 8, which covers Retrievers, Flushing Dogs and Water Dogs, in Section 2 (the Flushing Dogs), with a working trial. [6]

Size: AKC ideal height 20 in for dogs and 19 in for bitches, with anything more than an inch off faulted; a 20-in dog weighs about 50 lb and a 19-in bitch about 40 lb. FCI gives roughly 51 cm (20 in). [6]

The coat has a medium-length flat or wavy outer layer over a short soft dense undercoat, with moderate feathering on ears, chest, legs and belly; it is close and weather-resisting. [6]

Colour: black or liver on white, or mostly white with black or liver, plus blue or liver roan and tricolour (white with tan); the FCI lists liver-and-white, black-and-white, or either with tan. Lemon, red and orange are not preferred. [6]

Faults include a clamped or terrier-carried tail, undershot/overshot/wry jaws, and over-trimming that destroys the natural outline. [6]

English Toy Spaniel — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed is a compact, cobby and essentially square toy dog with a short-nosed domed head, a merry affectionate nature and a silky flowing coat; its rounded head, lustrous dark eye and well-cushioned face mark it as a dog of distinction, and the head is the breed's most important trait. [6]

The most desirable adult weight is eight to fourteen pounds; general symmetry and sturdy substance matter more than actual weight, and all else equal the smaller dog is preferred. The build is compact and square on cobby lines. [6]

The head is large for the body with a plush chubby look yet refined; the expression is soft and appealing. Eyes are large, very dark brown or black, set squarely level with the nose, showing little or no white, with black rims. [6]

Ears are very long, set low and close, fringed with heavy feathering; the skull is high and well domed, curving well out over the eyes. The muzzle is very short with the nose laid well back; the jaw is square, broad and deep, the bite slightly undershot with teeth not showing. A wry mouth is penalized and a hanging tongue is highly objectionable. [6]

The neck is moderate and nicely arched; the topline is level. The body is short and compact, square in outline and deep, set on cobby lines, carrying a broad back and a deep brisket. The tail is docked to two to four inches and carried at or just above the back, with a silky three-to four-inch square "flag" of feather; a number are born with a short or screw tail, and that is permitted. [6]

The coat is profuse, with heavy fringing on the ears, body and chest and flowing feathering on the legs and feet; it is straight or slightly wavy and silken. Over-trimming the fringes is penalized. The four colour varieties are Blenheim, Prince Charles, King Charles and Ruby. [6]

Blenheim shows a pearly white ground with deep red or chestnut patches and often a "Blenheim Spot" thumb mark on the skull; Prince Charles is tricolor with black patches and tan markings; King Charles is black and tan with mahogany tan points; Ruby is self-coloured rich mahogany red. Small white chest patches are allowed in King Charles and Ruby, but other white markings are a very serious fault. [6]

Gait is elegant with good front reach and a sound driving rear, free and lively. Temperament is that of a bright, interested little dog, affectionate and willing to please. The AKC standard was approved June 13, 1989. [6]

Entlebucher Mountain Dog — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Entlebucher Mountain Dog is a confident cattle dog, neither shy nor vicious, though it may be reserved with strangers. [6]

The coat is a double coat. [6]

The accepted colour is tricolor. [6]

AKC height is 17.5 to 20.5 inches for dogs and 16.5 to 19.5 inches for bitches. [6]

Dogs over 20.5 inches or under 17.5 inches, and bitches over 19.5 inches or under 16.5 inches, are disqualified. [6]

The shoulder blade forms an angle of 110 to 120 degrees. [6]

Estrela Mountain Dog — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed comes from Portugal and is FCI standard N° 173, Group 2. [7]

Height at the withers is 65–73 cm for males and 62–69 cm for females (a +2 cm tolerance); weights are 45–60 kg and 35–45 kg. [7]

Two coat types exist, long and short. [7]

Accepted colours are solid yellow, fawn and grey, plus wolf-grey (fawn, yellow and grey tones) and brindle on a fawn/yellow/grey base with blackish striping; a dark mask is typical and white markings are limited to the feet and lower neck/chest. [7]

Disqualifying heights are under 65 cm or over 75 cm for males and under 62 cm or over 71 cm for females. [7]

Eurasier — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Eurasier was developed in Germany and is covered by FCI Standard N° 291. [7]

FCI classifies it in Group 5 (Spitz and primitive types). [7]

FCI height at the withers is 52 to 60 cm for males and 48 to 56 cm for females. [7]

Weight is 22 to 30 kg for males and 18 to 26 kg for females. [7]

The coat has a thick undercoat with medium-long, straight, loosely lying guard hair, shorter on the muzzle, face, ears and front of the limbs. [7]

All colours and colour combinations are permitted except pure white and piebald. [7]

The breed is self-assured, calm and even-tempered, with high resistance to provocation. [7]

A full dentition of 42 teeth is specified. [7]

Field Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Field Spaniel originated in Great Britain and is covered by FCI Standard N° 123. [6]

FCI height at the withers is approximately 46 cm for both males and females. [6]

AKC height is 18 inches for dogs and 17 inches for bitches, with a one-inch tolerance. [6]

Weight is between 18 and 25 kg. [6]

The coat is single, moderately long, flat or slightly wavy, silky, glossy, dense and water-repellent. [6]

The breed is described as unusually docile, sensitive, fun-loving, independent and intelligent, with a strong affinity for human company. [6]

Finnish Lapphund — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A medium Nordic herding dog that blends a northern-type look with a herding temperament; it was bred to work reindeer, which are not as wary of dogs and wolves as other livestock, so the breed both controls and dodges them and has a strong startle reflex. [6]

With people it is calm, friendly and very submissive, at times a little aloof; that reserve is not shyness. It is intelligent, alert and eager to learn. [6]

Size: ideal height 19½ in for males and 17½ in for females; acceptable range 18–21 in males, 16–19 in females. The body is slightly longer than tall, about 11:10. [6]

The coat is dense and plentiful, though shorter on the head and down the front of the legs; the long harsh outer hair is water-repellent and lies over a soft, very dense undercoat, with males carrying a full mane. A slight wave is allowed. [6]

Every colour is allowed provided one main colour covers most of the body; sable, wolfsable and domino count as single colours, while secondary shades may appear on the head, neck, chest, underside, legs and tail. [6]

Faults include drop ears, yellow or blue eyes, an overshot or undershot bite, and a kinked tail. [6]

Finnish Spitz — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Finnish Spitz originated in Finland and is covered by FCI Standard N° 49. [6]

FCI classifies it in Group 5 (Spitz and primitive types), Section 2 Nordic hunting dogs. [6]

FCI height at the withers is 44 to 50 cm for males and 39 to 45 cm for females, with ideal heights of 47 cm and 42 cm. [6]

The double coat has a short, soft, dense undercoat and long, harsh, straight guard hairs of about one to two inches on the body. [6]

Accepted colours are varying shades of golden-red from pale honey to deep auburn. [6]

The breed is active, friendly, lively and eager, faithful, brave but cautious. [6]

The dentition comprises 42 symmetrical teeth. [6]

Flat Coated Retriever — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was developed in Great Britain and is FCI standard N° 121, Group 8 (retrievers, flushing dogs and water dogs). [6]

The FCI preferred height is 59–61.5 cm for dogs and 56.5–59 cm for bitches, weighing 27–36 kg and 25–32 kg. [6]

The coat is of moderate length and density, full and highly lustrous. [6]

Only solid black or solid liver is accepted. [6]

Disqualifying colours are yellow, cream or anything other than solid black or liver. [6]

French Bulldog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The French Bulldog originated in France and is covered by FCI Standard N° 101. [6]

FCI height at the withers is 27 to 35 cm for males and 24 to 32 cm for females, with a 1 cm tolerance. [6]

FCI weight is 9 to 14 kg for males and 8 to 13 kg for females; AKC disqualifies weights over 28 pounds. [6]

The coat is brilliant, short and smooth. [6]

Accepted colours include white, cream and fawn (from light to red fawn), and combinations thereof. [6]

The breed is described as well behaved, adaptable and comfortable, with an affectionate, even disposition. [6]

French Spaniel — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The French Spaniel originated in France and is covered by FCI Standard N° 175. [7]

Height at the withers is 56 to 61 cm for males and 55 to 59 cm for females, with a tolerance of +2 cm or -1 cm. [7]

The coat is long and wavy on the ears, the back of the legs and the tail. [7]

Colour is white and brown with medium spotting, sometimes predominant, with irregular patches, slightly or moderately flecked and roan. [7]

Any missing teeth are faulted except the first premolar (PM1). [7]

German Pinscher — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was developed in Germany and is FCI standard N° 184, Group 2. [6]

Height at the withers is 45–50 cm and weight 14–20 kg for both sexes. [6]

The coat is short, dense, smooth and close-lying. [6]

Accepted colours are Isabella (fawn), red in various shades, stag red (red with scattered black hairs), and black or blue with red or tan markings. [6]

The temperament shows keen senses, intelligence, trainability, fearlessness and endurance; the dog is alert, watchful and deliberate. [6]

The dentition has 42 white teeth; a colour outside the permitted set is disqualifying. [6]

German Shepherd Dog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was developed in Germany and is FCI standard N° 166, Group 1 (sheepdogs and cattle dogs, excluding Swiss types). [6]

The FCI gives 60–65 cm for males and 55–60 cm for females, weighing 30–40 kg and 22–32 kg; the AKC asks 24–26 inches for dogs and 22–24 for bitches. [6]

The body is longer than tall, in a ratio near 10 to 8.5. [6]

The ideal coat is a medium-length double coat. [6]

The dentition has 42 teeth (20 upper, 22 lower); an overshot bite of 2 mm or more is disqualifying. [6]

Further disqualifying faults include cropped or hanging ears, a nose not predominantly black, an undershot jaw, a docked tail and a white coat. [6]

German Shorthaired Pointer — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The coat is short and thick, tough to the touch, a little longer beneath the tail and on the haunches. [6]

Allowed colours are solid liver, or liver with white (ticked, patched or roaned), and likewise solid black or black with white. [6]

The temperament is friendly, intelligent and eager to please. [6]

Height at the withers is 23–25 inches for dogs and 21–23 for bitches; weight is 55–70 pounds and 45–60 pounds respectively. [6]

Eyes are almond-shaped and medium, ideally dark brown; ears are broad, set fairly high and lie flat to the head. [6]

Disqualifying faults include china or wall eyes, a flesh-coloured nose, a severely overshot or undershot bite, and any colour outside the liver/black family (including red, orange, lemon, tan or all-white). [6]

German Spitz — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The German Spitz originated in Germany and is covered by FCI Standard N° 97. [7]

The Wolfsspitz/Keeshond stands 49 plus or minus 6 cm; the Giant Spitz 45 plus or minus 5 cm; the Medium Spitz 35 plus or minus 5 cm; the Miniature Spitz 27 plus or minus 3 cm; and the Toy Spitz/Pomeranian 21 plus or minus 3 cm. [7]

The coat is a double coat: a long, straight, firm top coat standing off the body over a short, thick, cotton-wool-like undercoat. [7]

The Wolfsspitz/Keeshond is grey-shaded in colour. [7]

The breed has a scissor bite with 42 teeth. [7]

German Wirehaired Pointer — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A medium-sized, well-muscled gundog of the Pointer family, developed in Germany for all-round field work; intelligent, energetic and determined. [6]

Males stand 24–26 inches at the withers; bitches are somewhat smaller, yet never below 22 inches, and any dog outside the height limits is severely penalized. [6]

The frame is a little longer than it is tall, in roughly a ten-to-nine proportion, with a short, straight and strong back. [6]

The signature coat is harsh, wiry and weather resistant (somewhat water-repellent); the flat-lying outer coat is 1–2 inches long over a dense winter undercoat. [6]

Accepted colours are liver and white, seen as liver-and-white spotting, liver roan, ticked or roaned spotting, or solid liver; the head and ears are liver, sometimes with a white blaze. [6]

The eyes are brown, the nose dark brown, and the bite is a true scissors; the ears are rounded and hang close to the head. [6]

The tail is set high and docked to about two-fifths of its natural length. [6]

Penalties: a spotted or flesh-coloured nose, any black in the coat, a short smooth or soft woolly or overly long coat, and excessive artificial grooming are all severely penalized. [6]

The AKC standard lists no formal disqualifications; deviations from the ideal are penalized in proportion to their severity. [6]

Giant Schnauzer — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Height at the withers is 60–70 cm and weight 35–47 kg for both sexes. [6]

The coat is hard, wiry and very dense, with a soft undercoat beneath a harsh outer layer. [6]

Only solid black or pepper-and-salt are accepted. [6]

The temperament is good-natured and even, with unshakeable loyalty to its owner. [6]

The dentition has 42 teeth; disqualifying faults are an overshot or undershot bite and any marking outside the specified colours. [6]

Glen Of Imaal Terrier — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Glen of Imaal Terrier originated in Ireland and is covered by FCI Standard N° 302. [7]

FCI classifies it in Group 3 (Terriers). [7]

Height at the withers for dogs is a maximum of 14 inches (35,5 cm). [7]

Weight for dogs is 35 lb (16 kg). [7]

The coat is of medium length and harsh texture, with a soft undercoat. [7]

The accepted colour is blue brindle, but not toning to black. [7]

Golden Retriever — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Golden Retriever originated in Great Britain and is covered by FCI Standard N° 111. [6]

FCI height at the withers is 56 to 61 cm for dogs (22 to 24 inches) and 51 to 56 cm for bitches (20 to 22 inches). [6]

AKC weight is 65 to 75 pounds for dogs and 55 to 65 pounds for bitches. [6]

The coat is dense and water-repellent with a good undercoat. [6]

Accepted colours are rich, lustrous golden of various shades. [6]

The breed is friendly, reliable and trustworthy. [6]

Gordon Setter — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Gordon Setter originated in Great Britain and is covered by FCI Standard N° 6. [6]

FCI height at the withers is 66 cm for males (26 inches) and 62 cm for females (24½ inches). [6]

FCI weight is 29.5 kg for males (65 lb) and 25.5 kg for females (56 lb). [6]

AKC height is 24 to 27 inches for males and 23 to 26 inches for females, with weights of 55 to 80 lb (males) and 45 to 70 lb (females). [6]

The coat is soft and shining, straight or slightly waved, with long hair on ears, underbody, chest and legs. [6]

The colour is deep, shining coal black with chestnut-red markings. [6]

Grand Basset Griffon Vendeen — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Grand Basset Griffon Vendeen originated in France and is covered by FCI Standard N° 33. [7]

Height at the withers is 40 to 44 cm for males and 39 to 43 cm for females, with a tolerance of 1 cm more or less. [7]

The coat is hard, not too long and flat, never silky or woolly. [7]

The colour is black with white spotting (white and black). [7]

The breed is a fast, well-voiced, passionate hunter that is courageous and loves bramble and scrub. [7]

Great Dane — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was created in Germany and is FCI standard N° 235, Group 2. [6]

The FCI asks for at least 80 cm in males (not above 90) and 72 cm in females (not above 84); the AKC wants males no less than 30 inches (preferably 32+) and females no less than 28 (preferably 30+). [6]

The coat is short, thick and clean, with a smooth glossy look. [6]

The base colour is yellow-gold, always brindled with black cross stripes. [6]

The dentition has 42 teeth; disqualifying faults include being under minimum height, a split nose, a docked tail, the merlequin pattern, and any colour outside the seven recognised ones. [6]

Great Pyrenees — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Great Pyrenees has a weather-resistant double coat: a long, flat, thick, coarse outer coat over a dense, fine, woolly undercoat. [6]

The coat is white, sometimes marked with grey, badger, reddish-brown or tan of various shades. [6]

At the withers AKC height runs 27–32 inches for dogs and 25–29 for bitches. [6]

A dog of 27 inches weighs roughly 100 lb, and a 25-inch bitch about 85 lb. [6]

Character and temperament are rated of the utmost importance in the breed. [6]

The eyes are medium sized, almond shaped, set slightly obliquely, rich dark brown, with close-fitting black rims. [6]

The muzzle is approximately equal in length to the back skull. [6]

Greater Swiss Mountain Dog — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The topcoat is dense and about 1¼ to 2 inches long, always with an undercoat beneath. [6]

The base coat colour is black, set off by rich rust and white markings. [6]

The breed is a striking, tri-coloured, large and powerful dog of sturdy, heavy bone, described as bold, faithful and a willing worker. [6]

Height is 25½–28½ inches for dogs and 23½–27 for bitches, with body length to height near a 10-to-9 ratio. [6]

Eyes are almond-shaped and brown (dark preferred); a blue eye disqualifies. [6]

Disqualifying colours are anything other than the black/rust/white tri-colour (including blue-charcoal or red-and-white versions) and a blue eye. [6]

Greyhound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Greyhound originated in Great Britain and is covered by FCI Standard N° 158. [6]

FCI classifies it in Group 10 (Sighthounds). [6]

FCI ideal height is 71 to 76 cm for males and 68 to 71 cm for females. [6]

Weight is 65 to 70 pounds for dogs and 60 to 65 pounds for bitches. [6]

The coat is short, smooth and firm in texture. [6]

Coat colour is considered immaterial. [6]

The breed is noted for remarkable stamina and endurance. [6]

Harrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Harrier is listed with origin France and is covered by FCI Standard N° 290. [6]

FCI height at the withers is 45 to 50 cm. [6]

AKC height is 19 to 21 inches for dogs and bitches. [6]

Any colour is acceptable and not regarded as very important. [6]

As a working pack breed the Harrier is outgoing and friendly and must work in close contact with other hounds. [6]

Havanese — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed began in Cuba and is FCI standard N° 250, Group 9. [6]

The FCI height is 23–27 cm (tolerance 21–29 cm); the AKC ideal is 9 to 10½ inches, with 8½ to 11½ acceptable and anything outside that disqualifying. [6]

The coat is silky and light in texture in both the outer and under layers. [6]

All colours and marking patterns are allowed and of equal merit. [6]

The temperament is friendly, playful, alert, intelligent and sweet, not quarrelsome. [6]

Disqualifying faults include height under 8½ or over 11½ inches, missing pigment on the eye rims, nose or lips, any eye-rim/nose/lip pigment other than black or brown, a coarse wiry coat, and a short smooth coat. [6]

Hokkaido — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Hokkaido originated in Japan and is covered by FCI Standard N° 261. [7]

FCI classifies it in Group 5 (Spitz and primitive type). [7]

FCI height at the withers is 48,5 to 51,5 cm for males and 45,5 to 48,5 cm for females. [7]

The outer coat is harsh and straight, with a soft, dense undercoat. [7]

Accepted colours include sesame (a mixture of black, red and white hairs), brindle, red, black, black and tan, and white. [7]

The breed is described as a dog of noteworthy endurance, showing dignity and a naive feeling. [7]

Hovawart — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was developed in Germany and is FCI standard N° 190, Group 2. [7]

Height at the withers is 63–70 cm for males and 58–65 cm for females; dogs above 73 cm or bitches above 68 cm are disqualified. [7]

The coat is long, thick and only slightly wavy, lying flat with minimal undercoat. [7]

Three colour forms exist: black-and-tan, solid black and blond. [7]

The bite is a strong scissor with 42 teeth, and the body length to height ratio is about 100:110 to 100:115. [7]

Ibizan Hound — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

An ancient sighthound placed in the AKC Hound Group, developed on Spain's Balearic Islands and worked chiefly for rabbit hunting; lithe, deerlike and moderate in build, with large erect ears and light pigmentation. [6]

Two coat varieties occur, both kept natural and never trimmed: a short coat and a wire-haired coat up to about three inches long, the latter sometimes carrying a heavy moustache. [6]

Permitted colours are white or red, spanning pale yellowish-red (called "lion") through deep red, in any pattern or solid; no colour is preferred over another. [6]

Dogs measure 23½–27½ inches at the withers and bitches 22½–26 inches; typical weight is roughly 50 lb for dogs and 45 lb for bitches; the frame is slightly longer than tall with clean, flat muscling. [6]

The eyes are small and set obliquely, in shades from clear amber to caramel; the nose is a rosy flesh tone, never black or liver, and should harmonise with the coat. [6]

Fault: ears that show no ability to stand erect are a serious fault. [6]

Disqualifications: any colour other than white or red; and any nose pigment not as specified (it should be solid or butterfly, matching the coat). [6]

Icelandic Sheepdog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Icelandic Sheepdog originated in Iceland and is covered by FCI Standard N° 289. [6]

FCI ideal height at the withers is 46 cm for males and 42 cm for females. [6]

AKC ideal height is 18 inches for dogs and 16½ inches for bitches. [6]

The coat is a double coat, thick and extremely weather resistant. [6]

Allowed colours are fawn and/or red in various shades, chocolate brown, shaded grey and black. [6]

The breed is a hardy, agile herding dog that uses its bark to drive sheep and other livestock. [6]

Irish Red And White Setter — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed comes from Ireland and carries FCI standard N° 330. [7]

The FCI assigns it to Group 7 (pointing dogs), Section 2 for British and Irish pointers and setters. [7]

Preferred height at the withers is 62–66 cm for dogs and 57–61 cm for bitches. [7]

The coat carries long, fine, silky feathering on the rear of the legs, the ear flaps and the flanks. [7]

The ground is white with solid red patches (clear islands of red), and flecking (not roaning) is allowed on the face, feet and lower legs. [7]

The nature is aristocratic, keen and intelligent. [7]

Irish Setter — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Irish Setter originated in Ireland and is covered by FCI Standard N° 120. [6]

FCI height at the withers is 58 to 67 cm for males (23 to 26.5 inches) and 55 to 62 cm for females (21.5 to 24.5 inches). [6]

AKC considers about 27 inches and 70 pounds ideal for the dog, and 25 inches and 60 pounds for the bitch. [6]

The coat is short and fine on the head and forelegs. [6]

The colour is mahogany or rich chestnut red, with no black. [6]

The breed has a rollicking personality. [6]

Irish Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was created in Ireland and is listed by the FCI as terrier standard N° 139, Group 3. [6]

Show condition weight is about 27 pounds for dogs and 25 for bitches, at roughly 18 inches tall; the FCI height is approximately 45.5 cm. [6]

The coat is dense and wiry in texture, of good quality, lying fairly close to the body. [6]

Only whole colours are accepted: bright red, golden red, red wheaten or wheaten (a small white chest patch is allowed). [6]

Irish Water Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

An Irish water dog (FCI standard 124) in FCI Group 8, which covers Retrievers, Flushing Dogs and Water Dogs, placed in Section 3 (the Water Dogs) with a working trial; used as a wildfowling retriever. [6]

Size: AKC height 22–24 in dogs, 21–23 in bitches; weight 55–68 lb dogs, 45–58 lb bitches. FCI height 53–59 cm dogs, 51–56 cm bitches. [6]

The coat is a dense mass of tight, crisp ringlets with a natural oiliness and no woolliness; the face is smooth, the skull carries a topknot of long loose curls, and the tail is the smooth "rat tail" (curled only at the root). [6]

Colour is a very rich puce liver (the AKC describes liver to dark liver with a purplish cast); white is undesirable, and white on the chest is a fault. [6]

Faults include white on chest or feet, a pale coat, a light eye, a woolly coat, feathering on the front of the hocks, stern or face, missing foreleg feather, and splay feet. [6]

Irish Wolfhound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Irish Wolfhound originated in Ireland and is covered by FCI Standard N° 160. [6]

FCI classifies it in Group 10 (Sighthounds), Section 2 Rough-haired Sighthounds. [6]

FCI desired minimum height is 79 cm for males and 71 cm for females. [6]

FCI minimum expected weight is 54,5 kg for a 79 cm male and 40,5 kg for a 71 cm female; the average male stands about 86 cm. [6]

AKC describes ideal size and weight as 32 inches and 120 pounds for dogs, and 30 inches and 105 pounds for bitches. [6]

The coat is rough and hard on the body, legs and head, with especially wiry hair over the eyes and beard. [6]

The breed is a gentle, kind, loyal hound with a friendly nature. [6]

Italian Greyhound — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The ideal height at the withers is 13 to 15 inches. [6]

The head is long and narrow, tapering to the nose with a slight stop and a relatively long skull. [6]

Eyes are dark, bright and intelligent, of medium size; very pale eyes are faulty, and ears carried erect or in button form are heavily penalised. [6]

The body is moderate in length and short-coupled, rising at the withers with a topline that arches and falls away at the croup. [6]

The skin is fine and supple; the hair is short, soft and glossy like satin. [6]

Any colour or marking is allowed except brindle patterning or the tan markings typical of black-and-tan dogs, both of which disqualify. [6]

The tail is slim, tapering and gently curved, reaching about the hock; a ring tail is a serious fault. [6]

Jagdterrier — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The German Hunting Terrier (Deutscher Jagdterrier), FCI standard N° 103, is a German breed placed in Group 3 (Terriers), Section 1 (large and medium terriers), with a working trial. [7]

A versatile hunting dog used especially for work below ground and as a flushing dog; in build it is a smallish, compact, well-proportioned animal, generally black and tan. [7]

Height at the withers is 33–40 cm for both dogs and bitches; weight should match the dog's build, neither too light nor too heavy. [7]

The coat is plain and dense, either hard rough hair or coarse smooth hair. [7]

Colour is black, dark-brown or greyish-black with sharply defined yellow-red markings on the eyebrows, muzzle, chest, legs and tail base; a light or dark mask is allowed and small white marks on chest and toes are tolerated. [7]

Faults cover many structural points (e.g. narrow skull or muzzle, weak or irregular bite, light or protruding eyes, soft or roached back, steep angulation, stilted gait, splayed feet, tail-set faults, and short or woolly coat). [7]

Japanese Chin — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

AKC ideal height is 8 to 11 inches at the top of the withers; FCI gives males approximately 25 cm at the withers (females a little smaller). [6]

The coat is profuse, straight, single-layered and silky with a springy feel; the FCI notes long silky hair over the whole body except the face, with heavy feathering on ears, neck, thighs and tail. [6]

AKC permits three colour combinations: a white coat with black, a white coat with red, or white with black plus tan points. The FCI simply describes white carrying black or red markings. [6]

AKC disqualifies any colour outside the listed combinations. [6]

FCI faults include shyness, a non-black nose in white dogs with black markings, an overshot mouth, an all-white coat lacking markings, and a single facial marking. [6]

Per FCI history, the breed's ancestors were given as a gift by Korean rulers (Silla Dynasty, 377–935) to the Japanese court in 732. [6]

Japanese Spitz — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Size: dogs stand 30–38 cm at the withers (bitches a little smaller), with a body-to-height ratio of about 11:10. [7]

The coat is pure white and plentiful: a straight, stand-off outer layer over a short soft dense undercoat, short on the face, ears, front legs and below the hocks but long and abundant elsewhere, with a frill from neck to shoulder and a heavily feathered tail. [7]

The head shows a pointed muzzle, small triangular prick ears set high and facing forward, and a tail carried curled over the back. [7]

Temperament is intelligent, cheerful and alert, and the breed must not be noisy; movement is quick and active. [7]

Faults include an overshot or undershot mouth, a strongly curled tail, shyness and noisiness. [7]

Japanese Terrier — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Japanese Terrier originates in Japan and is classified by the FCI as a Toy Dog in Group 3 (Terriers), Section 2 (Small sized Terriers). [7]

Height at the withers for both males and females is approximately 30 to 33 cm. [7]

The coat is short (about 2 mm in length) and glossy. [7]

Accepted colours are tricolour (black, tan and white head) and white with black markings. [7]

The described temperament is swift, lively and alert. [7]

The ears are set high, moderately small, thin and V-shaped, dropping forward; the tail is traditionally docked in the country of origin. [7]

Karelian Bear Dog — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Karelian Bear Dog originates in Finland and is a hunting spitz used mainly for elk and bear. [7]

The FCI places it in Group 5 (Spitz and primitive types), Section 2 (Nordic hunting dogs). [7]

Height at the withers is 54 to 60 cm for males and 49 to 55 cm for females, with ideal heights of 57 cm (males) and 52 cm (females). [7]

Ideal weight is 25 to 28 kg for males and 17 to 20 kg for females. [7]

The coat is dense; the colour is black, which may be dull or show nuances of brown, with typical white markings. [7]

The described temperament is that of an eager, very independent hunter. [7]

Keeshond — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Keeshond is a natural, handsome, well-balanced spitz-type dog. [6]

The AKC standard sets height at the withers at 18 inches for males and 17 inches for bitches, with a 1-inch variance either way acceptable. [6]

The coat is abundant, long, straight and harsh, standing well out from a dense undercoat. [6]

The adult coat colour is a mixture of gray with a light-plumed tail and a dark tail tip. [6]

The eyes are dark brown, medium-sized, almond-shaped and obliquely set. [6]

Kerry Blue Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Kerry Blue Terrier originates in Ireland and is classified by the FCI in Group 3 (Terriers), Section 1 (Large and medium sized Terriers). [6]

Height at the withers is 18 to 19½ inches (45,5 to 49,5 cm) for dogs and 17½ to 19 inches (44,5 to 48 cm) for bitches. [6]

The most desirable weight for a fully developed dog is 33 to 40 pounds (15 to 18 kg). [6]

The correct mature coat is soft, dense and wavy, in any shade of blue-gray or gray-blue; black is permitted only up to 18 months of age. [6]

A black dog 18 months of age or older is disqualified. [6]

The AKC disqualifies dogs over 20 inches or under 17½ inches, and bitches over 19½ inches or under 17 inches. [6]

The FCI describes the temperament as terrier character throughout. [6]

Komondor — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Hungary. [6]

Under FCI it is in Group 1 — sheepdogs and cattle dogs other than the Swiss breeds — with Section 1 covering sheepdogs and no working trial; its use is as a herding dog (and under the AKC as a flock guardian). [6]

Height is 27½ inches and up for dogs and 25½ inches and up for bitches under AKC (FCI minimum 70 cm and 65 cm); weight runs about 100 lb and up for dogs, 80 lb and up for bitches (FCI 50–60 kg and 40–50 kg). [6]

The coat is a dense, protective coat that forms natural cords, white to ivory in colour; the puppy coat is soft and tends to cord, while the mature coat has a woolly undercoat trapped by a coarser outer coat. [6]

Temperament is that of a flock guardian: reserved with strangers yet demonstrative and selflessly devoted to family and charges, vigilant, courageous and faithful; FCI notes imperturbable courage and a suspicious nature. [6]

Kuvasz — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Kuvasz originates in Hungary and is classified by the FCI in Group 1 (Sheepdogs and Cattle Dogs), Section 1 (Sheepdogs). [6]

The AKC height at the withers is 28 to 30 inches for dogs and 26 to 28 inches for bitches; the FCI gives 71 to 76 cm (dogs) and 66 to 70 cm (bitches). [6]

The AKC weight is about 100 to 115 pounds for dogs and 70 to 90 pounds for bitches; the FCI gives 48 to 62 kg (dogs) and 37 to 50 kg (bitches). [6]

The coat is a double coat of medium-coarse texture, ranging from wavy to straight, in white (ivory permitted). [6]

The described temperament is spirited, intelligent, courageous and curious. [6]

The AKC disqualifies dogs under 26 inches and bitches under 24 inches; the FCI disqualifies an incisor overshoot of more than 2 mm. [6]

Labrador Retriever — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Labrador Retriever originates in Great Britain and is classified by the FCI in Group 8 (Retrievers, Flushing dogs), Section 1 (Retrievers). [6]

The AKC height at the withers is 22½ to 24½ inches for dogs and 21½ to 23½ inches for bitches; the FCI ideal height is 56 to 57 cm (males) and 54 to 56 cm (females). [6]

The AKC weight is 65 to 80 pounds for dogs and 55 to 70 pounds for bitches. [6]

The coat is short, straight and very dense, with a distinctive weather-resistant texture. [6]

Accepted colours are black, yellow and chocolate (liver); yellow ranges from fox-red to light cream. [6]

The described temperament is good-tempered, very agile and devoted. [6]

The AKC disqualifies any deviation from the prescribed height and a thoroughly pink or unpigmented nose. [6]

Lagotto Romagnolo — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Lagotto Romagnolo originates in Italy and is classified by the FCI in Group 8 (Retrievers – Flushing Dogs – Water Dogs), Section 3 (Water Dogs), used as a truffle dog. [6]

The AKC height at the withers is 16½ to 19½ inches for dogs and 15½ to 18½ inches for bitches; the FCI gives 43 to 48 cm (males, ideal 46 cm) and 41 to 46 cm (females, ideal 43 cm). [6]

The AKC weight is 28 to 35 pounds for males and 24 to 31 pounds for females; the FCI gives 13 to 16 kg (males) and 11 to 14 kg (females). [6]

The coat is woolly, curly or wavy, dense and water-resistant. [6]

Accepted colours include off-white solid, white with brown or orange patches, brown roan and orange; a black or gray coat is a disqualification. [6]

The skull makes up about 56 percent of the head length and the muzzle about 44 percent. [6]

Lakeland Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Lakeland Terrier originates in Great Britain and is classified by the FCI in Group 3 (Terriers), Section 1 (Large and medium sized Terriers). [6]

The FCI height at the shoulder must not exceed 37 cm; the AKC ideal height for a mature dog is 14½ inches. [6]

The FCI weight is 17 lbs (7,7 kg) for dogs and 15 lbs (6,8 kg) for bitches. [6]

The coat is a double coat with a hard, wiry outer layer and a close undercoat. [6]

Accepted colours include black and tan, blue and tan, red, wheaten, red grizzle and liver. [6]

The described temperament is bold, gay and friendly, with a confident, cocky attitude. [6]

The AKC disqualifies overshot or undershot teeth. [6]

Lancashire Heeler — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Lancashire Heeler is a small, powerful, sturdily built, alert and energetic working dog. [6]

The AKC ideal height at the shoulder is 12 inches for dogs and 10 inches for bitches. [6]

The coat is a weather-resistant, short, thick, hard, flat topcoat over a fine undercoat. [6]

Accepted colours are black and tan or liver and tan, with rich tan spots. [6]

The described temperament is courageous, happy and affectionate toward the owner. [6]

The gait is described as smart and brisk, with natural, free movement. [6]

Lapponian Herder — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Lapponian Herder originates in Finland and is used as a reindeer herding dog. [7]

The FCI classifies it in Group 5 (Spitz and primitive types), Section 3 (Nordic Watchdogs and herding spitzes). [7]

The ideal height at the withers is 51 cm for males and 46 cm for females, with a tolerance of +/-3 cm. [7]

The coat colour is black in different shades, sometimes greyish or dark brown, with lighter markings. [7]

The described temperament is docile, calm and friendly. [7]

The tail is of medium length, set low and covered with profuse hair; it hangs in repose and is carried in line with the topline or slightly curved in movement, never raised above the back. [7]

Large Munsterlander — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Large Munsterlander originates in Germany and is a versatile pointing dog. [7]

The FCI classifies it in Group 7 (Pointing Dogs), Section 1.2 (Continental Pointing Dogs). [7]

Average height at the withers is 60 to 65 cm for males and 58 to 63 cm for females, with 2 cm over the specified size tolerated. [7]

The approximate weight is 30 kg. [7]

The coat is long and wavy with feathering; the colour is white with black patches (and ticking). [7]

The standard stresses that the most important qualities are a willing, trainable temperament suited to hunting. [7]

Leonberger — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Leonberger originates in Germany and is classified by the FCI in Group 2 (Pinscher and Schnauzer), Section 2.2 (Molossoid breeds). [6]

The FCI height at the withers is 72 to 80 cm for dogs (recommended average 76 cm) and 65 to 75 cm for bitches (recommended average 70 cm); the AKC gives 28 to 31½ inches (dogs) and 25½ to 29½ inches (bitches). [6]

The coat is a medium to long, water-resistant double coat. [6]

Accepted colours are lion-yellow, golden to red, red-brown and sand (cream/pale yellow). [6]

Disqualifications include a complete lack of mask, more than one missing tooth other than M3, any coat colour other than those listed, and white chest hair exceeding 5 inches in width. [6]

The breed is described as a gentle, even-tempered family dog. [6]

Lhasa Apso — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The AKC gives an ideal size of 10 to 11 inches at the shoulder. [6]

The FCI ideal height at the withers is 25 cm for males, with females slightly smaller. [6]

The coat is a heavy double coat, straight, hard and dense, of good length. [6]

All colours are equally acceptable, including golden, sandy, honey, dark grizzle, slate, smoke, parti-colour, black, white and brownish. [6]

The described temperament is alert, gay and assertive. [6]

Maltese — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The AKC asks for under 7 pounds, favouring 4 to 6; the FCI gives 21–25 cm for males and 20–23 cm for females, weighing 3–4 kg. [6]

The coat is a single layer (no undercoat) that hangs long, flat and silky almost to the floor. [6]

The accepted ground colour is pure white; a faint tan or lemon cast on the ears is tolerated but not sought. [6]

The temperament is lively, affectionate, calm and trusting. [6]

Mastiff — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Mastiff originates in Great Britain and is classified by the FCI in Group 2 (Pinscher and Schnauzer), Section 2.1 (Molossoid breeds, Mastiff type). [6]

The AKC minimum height at the shoulder is 30 inches for dogs and 27½ inches for bitches. [6]

The FCI height at the withers is 64 to 69 cm for males and 61 to 66 cm for females; weight is 50 to 59 kg (males) and 41 to 50 kg (females). [6]

The coat is straight, coarse and of moderately short length, with a dense undercoat. [6]

Accepted colours are any shade of brindle, fawn or red. [6]

The described temperament combines grandeur and good nature, courage and docility. [6]

Miniature American Shepherd — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Miniature American Shepherd is a small herding dog that originated in the United States. [6]

The AKC height is 14 to 18 inches for dogs and 13 to 17 inches for bitches. [6]

The coat is of medium texture, straight to wavy, with a moderate undercoat. [6]

Accepted colours are black, blue merle, red (liver) and red merle. [6]

The described temperament is intelligent and primarily that of a working dog. [6]

Disqualifications include height under 14 or over 18 inches (dogs) and under 13 or over 17 inches (bitches), and undershot or overshot bite. [6]

Miniature Bull Terrier — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A compact, well-balanced terrier of square outline, built strongly and symmetrically. [6]

Height runs from 10 to 14 inches measured at the withers. [6]

The hair is short, flat and straight, feeling harsh with a slight sheen. [6]

Whites should be wholly white; coloured dogs may show brindle, black brindle, black-and-tan, red or fawn, with or without white or smut markings. [6]

The disposition is spirited and brave yet steady and biddable. [6]

Blue eyes, and any coat colour outside the permitted set, are disqualifying faults. [6]

Miniature Pinscher — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Miniature Pinscher originates in Germany and is classified by the FCI in Group 2 (Pinscher and Schnauzer), Section 1 (Pinscher and Schnauzer). [6]

The AKC height is 10 to 12½ inches, with 11 to 11½ inches desired; the FCI height at the withers is 25 to 30 cm for both dogs and bitches. [6]

The FCI weight is 4 to 6 kg. [6]

The coat is smooth, hard, short, straight and lustrous, closely adhering to the body. [6]

Accepted colours are solid clear red, stag red (red with intermingling black hairs), and black with sharply defined rust-red markings. [6]

The described temperament is fearless, animated, self-possessed and spirited. [6]

The AKC disqualifies height under 10 inches or over 12½ inches, and any colour not listed. [6]

Miniature Schnauzer — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Miniature Schnauzer originates in Germany and is classified by the FCI in Group 2 (Pinscher and Schnauzer), Section 1. [6]

The AKC height is 12 to 14 inches; the FCI height at the withers is 30 to 35 cm for both dogs and bitches. [6]

The FCI weight is approximately 4 to 8 kg. [6]

Accepted colours are salt and pepper, black and silver, and solid black. [6]

The described temperament is alert, spirited and obedient. [6]

Disqualifications include dogs or bitches under 12 or over 14 inches, and colours other than those allowed (with limited white on the chest of black dogs). [6]

Mudi — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Mudi originates in Hungary and is classified by the FCI in Group 1 (Sheepdogs and Cattle Dogs), Section 1 (Sheepdogs). [6]

The AKC height is 15½ to 19 inches for dogs and 14½ to 18 inches for bitches; the FCI gives 41 to 47 cm (males, ideal 43 to 45 cm) and 38 to 44 cm (females, ideal 40 to 42 cm). [6]

The coat on the body is very wavy to slightly curly, dense and about 1 to 3 inches (3 to 7 cm) long; the face and front of legs are short and straight. [6]

No coat colour is preferred over another; minimal white markings are tolerated. [6]

The ears are high-set prick ears of reverse V-shape, about 10 to 15% longer than their width at the base. [6]

The described temperament is alert, energetic, intelligent and enthusiastic. [6]

The AKC disqualifies dogs under 15½ or over 19 inches and bitches under 14½ or over 18 inches. [6]

Neapolitan Mastiff — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Neapolitan Mastiff is an ancient breed rediscovered in Italy in the 1940s. [6]

The AKC height is 26 to 31 inches for dogs and 24 to 29 inches for bitches; average mature weight is 150 pounds (dogs) and 110 pounds (bitches). [6]

The body length is 10 to 15 percent greater than the height. [6]

The coat is short, dense and of uniform length, not longer than 1 inch. [6]

Accepted solid colours are gray (blue), black, mahogany and tawny, in lighter and darker shades. [6]

The described temperament is steady and loyal to the owner. [6]

Disqualifications include absence of wrinkles and folds, absence of dewlap, and a lack of tail or a tail shorter than one third the length from point of hip to hock. [6]

Nederlandse Kooikerhondje — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The FCI classifies it in Group 8 (Retrievers – Flushing Dogs), Section 2 (Flushing Dogs). [6]

The ideal height at the withers is 40 cm for males and 38 cm for females, with a tolerance of 2 cm over or 3 cm under. [6]

The coat shows distinct patches of clear orange-red on pure white; a blaze runs down the head. [6]

In action the well-feathered tail is carried gaily, waving roughly level with the back. [6]

Newfoundland — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Newfoundland originates in Canada and is classified by the FCI in Group 2 (Pinscher and Schnauzer), Section 2.2 (Molossoid breeds). [6]

The AKC average height is 28 inches for dogs and 26 inches for bitches; the FCI gives 71 cm (males) and 66 cm (females). [6]

The AKC weight is 130 to 150 pounds for dogs and 100 to 120 pounds for bitches; the FCI gives about 68 kg (males) and 54 kg (females). [6]

The coat is a flat, water-resistant double coat. [6]

Accepted colours are black, white and black, and brown. [6]

The hallmark temperament is sweetness of disposition. [6]

The AKC disqualifies any colours or combinations not specifically described. [6]

Norfolk Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Great Britain. [6]

FCI places it in Group 3 (Terriers), Section 2 for small-sized terriers, without working trial; its use is as a terrier. [6]

Height at the withers is 9–10 inches under AKC (FCI ideal 25 cm); weight is about 11–12 lb, built with good substance and bone for a dog of its size. [6]

The coat is hard, wiry and straight, about 1½–2 inches long and lying close, with a definite undercoat and a longer mane and ruff on the neck and shoulders. [6]

Accepted colours are all shades of red, wheaten, black-and-tan or grizzle, with dark points allowed; white marks are not desired. [6]

Norrbottenspets — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Norrbottenspets originates in Sweden and is classified by the FCI in Group 5 (Spitz and primitive types), Section 2 (Nordic hunting dogs). [6]

The AKC desired height is 17 to 18½ inches for males and 15½ to 17½ inches for females; the FCI ideal height is 45 cm (males) and 42 cm (females), with a tolerance of +/-2 cm. [6]

The coat is a double coat: a hard, short, straight topcoat over a soft, dense undercoat. [6]

The base colour is pure white, overlaid with a coloured mask and markings. [6]

The described temperament is calm, keen and attentive, with a kind disposition. [6]

A stumpy or docked tail is a disqualification. [6]

Norwegian Buhund — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Norwegian Buhund originates in Norway and is classified by the FCI in Group 5 (Spitz and primitive types), Section 3 (Nordic Watchdogs). [6]

The AKC height is 17 to 18½ inches for dogs and 16 to 17½ inches for bitches; the FCI gives 43 to 47 cm (males) and 41 to 45 cm (females). [6]

The AKC weight is 31 to 40 pounds for dogs and 26 to 35 pounds for bitches; the FCI gives 14 to 18 kg (males) and 12 to 16 kg (females). [6]

The coat is a thick, hard outer coat over a soft, dense undercoat. [6]

Accepted colours are wheaten (pale cream to bright orange) and black. [6]

The described temperament is self-confident, alert, lively and very affectionate. [6]

Norwegian Elkhound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Norwegian Elkhound originates in Norway and is classified by the FCI in Group 5 (Spitz and primitive types), Section 2 (Nordic Hunting Dogs). [6]

The AKC height is 20½ inches for dogs and 19½ inches for bitches; the FCI ideal height is 52 cm (males) and 49 cm (females). [6]

The AKC weight is about 55 pounds for dogs and 48 pounds for bitches. [6]

The coat is thick, hard and weather-resistant, with a soft, dense undercoat. [6]

The colour is gray (medium shade preferred), made up of black-tipped hairs; a harness marking is about a 5 cm broad stripe along the back. [6]

The described temperament is bold and energetic. [6]

The FCI disqualifies a height at the withers under 3 cm or over 4 cm from the ideal. [6]

Norwegian Lundehund — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Norwegian Lundehound originates in Norway and is classified by the FCI in Group 5 (Spitz and primitive types), Section 2 (Nordic Hunting Dogs). [6]

The AKC desired height is 13 to 15 inches for males and 12 to 14 inches for females; the FCI gives 35 to 38 cm (males) and 32 to 35 cm (females). [6]

The FCI weight is about 7 kg for males and 6 kg for females. [6]

The coat is a double coat with a harsh outer layer and a dense, soft undercoat. [6]

The colour is always combined with white: from red to fawn, with black hair tips, or white with red markings. [6]

The described temperament is alert, very energetic, loyal and protective. [6]

Norwich Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Norwich Terrier originates in Great Britain and is classified by the FCI in Group 3 (Terriers), Section 2 (Small-sized Terriers). [6]

The AKC height must not exceed 10 inches; the FCI ideal height at the withers is 25 cm. [6]

The AKC weight is about 12 pounds. [6]

The coat is hard, wiry and straight, with a definite undercoat and a mane on the neck and shoulders. [6]

Accepted colours are all shades of red, wheaten, black and tan, or grizzle. [6]

The described temperament is gay, fearless, loyal and affectionate. [6]

Nova Scotia Duck Tolling Retriever — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Nova Scotia Duck Tolling Retriever originates in Canada and is classified by the FCI in Group 8 (Retrievers – Flushing Dogs), Section 1 (Retrievers). [6]

The AKC height is 18 to 21 inches for males (ideal 19) and 17 to 20 inches for bitches (ideal 18); the FCI gives 48 to 51 cm (males) and 45 to 48 cm (females), with a 2,5 cm tolerance. [6]

The AKC weight is 45 to 51 pounds (20 to 23 kg) for males and 37 to 43 pounds (17 to 20 kg) for bitches. [6]

The coat is a water-repellent double coat of medium length. [6]

Accepted colours are any shade of red, from golden red to dark coppery red. [6]

Disqualifications include a butterfly nose and an overshot bite of more than 1/8 inch (3 mm). [6]

The described temperament is highly intelligent, alert and outgoing. [6]

Old English Sheepdog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A British herding breed (FCI Group 1, Sheepdogs and Cattle Dogs, Section 1 Sheepdogs, no working trial); also known as the Bob-Tail. [6]

AKC minimum height is 22 inches (55.8 cm) for dogs and 21 inches (53.3 cm) for bitches, with no upper limit. [6]

FCI minimum height at the withers is 61 cm for males and 56 cm for females. [6]

Build is square, compact, thick-set and muscular; type, character and balance matter more than sheer size. [6]

The coat is very full but not overdone, of a hard, shaggy texture that is free of curl; an underlying waterproof pile is present. [6]

Coat colour may be any grey, grizzle, blue or blue-merle shade, with or without white markings; brown or fawn tones are unwanted. [6]

Otterhound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

This hound was developed in Great Britain and is placed by the FCI among scenthounds, specifically its large-sized hound section (Group 6, Section 1.1). [6]

Mature dogs stand about 27 inches at the withers and weigh roughly 115 pounds, while bitches measure near 24 inches and 80 pounds; the FCI figures are approximately 69 cm for males and 61 cm for females. [6]

The double coat is coarse and broken in texture, with a dense water-resistant outer layer 2 to 4 inches (4 to 8 cm) long over a woolly undercoat. [6]

Every coat colour and combination is permitted, and no shade is preferred over another. [6]

The breed's nature is described as friendly, outgoing and even in temper. [6]

Coat faults include a soft or woolly outer coat (regarded seriously) and a missing undercoat; an outer coat well beyond six inches becomes heavy when wet and is faulted, and shaping the coat by stripping or scissoring is penalised. [6]

Papillon — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Papillon is a small, fine-boned, elegant toy dog. [6]

The AKC height at the withers is 8 to 11 inches; dogs over 12 inches are disqualified. [6]

The coat is abundant, long, fine, silky and straight, with a resilient quality. [6]

The colour is always parti-colour or white with patches of any colour(s). [6]

Disqualifications include height over 12 inches and an all-white dog or a dog with no white. [6]

Parson Russell Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Parson Russell Terrier originates in Great Britain and is classified by the FCI in Group 3 (Terriers), Section 1 (Large and medium sized Terriers). [6]

The AKC ideal height is 14 inches for a mature dog and 13 inches for bitches; the FCI ideal height is 36 cm (males) and 33 cm (females). [6]

The AKC weight is typically 13 to 17 pounds. [6]

The coat is a double coat, either smooth or broken, with good sheen. [6]

The colour is white or predominantly white with tan, lemon or black markings. [6]

The described temperament is bold, friendly, athletic and clever. [6]

Disqualifications include height under 12 inches or over 15 inches, prick ears, a liver nose, and overshot or undershot bite. [6]

Pekingese — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Pekingese originated in China. [6]

The FCI standard number for the breed is 207. [6]

According to the standard, the ideal weight is no more than 5 kg for males and 5.4 females. [6]

Temperament: A blend of regal dignified air, intelligence and self-assurance make for a good-tempered, strong-minded and fond pet to those who have earned its respect. [6]

One disqualification is: Weight over 14 pounds. [6]

Any animal showing clear physical or behavioural abnormalities is disqualified. [6]

Pembroke Welsh Corgi — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

FCI places it in Group 1 (Sheepdogs and Cattle Dogs, except Swiss), Section 2 Cattledogs (except Swiss), with no working trial; its standard is number 39. [6]

Its stated use is as a sheepdog. [6]

Height at the withers is about 25 to 30 cm (AKC 10 to 12 inches); weight runs up to about 30 lb for dogs and 28 lb for bitches (FCI 10 to 12 kg and 9 to 11 kg). [6]

The coat is of medium length, with a short, thick, weather-resistant undercoat beneath a coarser, longer outer coat; it lies flat and is preferably straight, though slight waviness is allowed. [6]

Self colours of red, sable, fawn and black-and-tan are accepted, with or without white markings on the legs, chest, neck, muzzle, underparts and a narrow head blaze. [6]

Peruvian Inca Orchid — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed is a Peruvian sighthound, elegant and slim, built for speed and strength; the hairless variety has no body hair while a coated minority also exists, and incomplete dentition is normal in hairless dogs. [6]

The body ratio of height to length is about 1:1, with females slightly longer than males. [6]

Three sizes are recognised: small 9¾–15¾ in (25–40 cm), medium 15¾–19¾ in (40–50 cm) and large 19¾–25¾ in (50–65 cm); weights run 8½–17½ lb (4–8 kg), 17½–26½ lb (8–12 kg) and 26½–55 lb (12–25 kg). [6]

The hairless type shows bare skin instead of coat, with a little hair on the head and vestiges on the lower tail and feet; shaving is forbidden. The coated type has short to medium hair with feathering on neck, ears and body. [6]

Skin colour in the hairless variety may be any shade, uniform or with unpigmented patches; the coated variety accepts all colours. [6]

Temperament is noble and affectionate with the family yet lively, alert and wary, making a good guard with strangers. [6]

Petit Basset Griffon Vendeen — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Under FCI classification the breed is placed in Group 6 Scenthounds and related breeds. [7]

The FCI standard number for the breed is 67. [7]

The breed's declared utilization is Devil in the country, angel in the house, that’s our. [7]

Accepted coat colours: Black with white spotting (white and black). [7]

Temperament: gentle but strong-willed and keen. [7]

Pharaoh Hound — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Malta, with patronage held by Great Britain. [6]

FCI assigns it to Group 5 (Spitz and primitive types), Section 6 for the primitive type, without working trial; its role is an alert keen hunter that works by scent and sight. [6]

Height is 23–25 inches for dogs and 21–24 inches for bitches (FCI ideal about 56 cm and 53 cm). [6]

The coat is short and glossy, from fine and close to slightly harsh, with no feathering. [6]

Colour is tan or rich chestnut with white markings: a white tail tip is strongly desired, white on the chest (called the Star), white on the toes, and a slim white blaze on the face are allowed, while other white is unwanted. [6]

Temperament is intelligent, friendly, affectionate and playful, alert and active, very fast and keen to hunt by both sight and scent. [6]

Disqualification: any solid white spot on the back of the neck, the shoulder, or any part of the back or the sides of the dog. [6]

Pointer — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and group: a British gun dog (English Pointer); AKC Sporting group; under FCI rules it sits in Group 7, the pointing dogs, and within Section 2.1 for British and Irish pointers and setters, with a working trial. [6]

Size: AKC dogs 25 to 28 in / 55 to 75 lb, bitches 23 to 26 in / 44 to 65 lb; FCI height at withers dogs 63 to 69 cm, bitches 61 to 66 cm. [6]

Coat and colour: short, dense, smooth coat with a sheen; AKC colours are liver, lemon, black and orange, either with white or solid; FCI adds lemon/white, orange/white, liver/white, black/white plus self colours and tricolours. The nose is black or brown in dark colours, lighter in pale shades. [6]

Build: compact, powerful and graceful with a noble head carried proudly, pronounced stop, deep chest reaching the elbow, strong slightly arched loin, and a tail thicker at the root tapering to a fine point, not beyond the hock, carried near the back line without curl. [6]

Faults and penalties: a tail longer than the hock or docked is penalised; a hackney gait is faulted; a cat-foot is a fault; FCI treats any departure from the standard as a fault graded by its severity. [6]

Polish Lowland Sheepdog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and group: a Polish herding breed; AKC Herding group, and under FCI it is in Group 1, the sheepdogs and cattle dogs, within Section 1 for sheepdogs and shown without a working trial. [6]

Size: AKC dogs 18 to 20 in and bitches 17 to 19 in at the withers; FCI males 45 to 50 cm and females 42 to 47 cm. The height-to-length ratio is 9 to 10, giving a rectangular, off-square outline. [6]

Coat and colour: a dense double coat of long, shaggy, thick hair with a crisp water-resistant outer layer and a soft dense undercoat, the long hanging hair covering the eyes; a slight wave is allowed but curly, short, silky or fly-away coats and missing undercoat are faults. The dog must be shown natural and unkempt, and scissoring is penalized so severely as to eliminate it. All colours are acceptable, most often white with black, gray or sandy patches, gray with white, or chocolate. [6]

Build and head: a medium, compact, strong and muscular dog with a flat topline, deep chest to the elbow, and a short or docked tail; the medium head carries heart-shaped drop ears and oval brown eyes, with blue or yellow (bird-of-prey) eyes a disqualification. [6]

Temperament: stable and self-confident, lively but self-controlled, clever and perceptive with an excellent memory and the ability to work independently; loyal yet aloof and suspicious of strangers, and needing a dominant owner. Nervous, cowardly or extremely vicious behaviour is faulted. [6]

Pomeranian — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Germany; the Pomeranian is the Toy Spitz variety of the German Spitz. [6]

FCI places it in Group 5 (Spitz and primitive types), Section 4 European Spitz, with no working trial; its FCI standard is number 97. [6]

AKC weight is 3 to 7 pounds, ideally 4 to 6 for show; FCI gives the Toy Spitz height as 21 cm plus or minus 3 cm, with weight matched to size. [6]

The coat is a double one, with a long, straight, firm topcoat standing off the body over a short, dense, cotton-wool undercoat; it forms a neck ruff and a bushy tail carried over the back, and must not be wavy, curly or shaggy. [6]

Every colour, pattern and variation is accepted and judged equally; FCI lists white, black, brown, orange, grey-shaded and other colours for the Toy Spitz. [6]

Pont Audemer Spaniel — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Pont Audemer Spaniel originated in France. [7]

Under FCI classification the breed is placed in Group 7 Pointing Dogs. [7]

The FCI standard number for the breed is 114. [7]

The breed's declared utilization is Pointing dog. [7]

Accepted coat colours: Brown, preferably brown and grey mottled, with dead leaf glints. [7]

Standard field 'SIZE': 52 - 58 cm. [7]

Poodle — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Poodle originated in France. [6]

The FCI standard number for the breed is 172. [6]

The coat is (a) Quality - (1) Curly: of naturally harsh texture, dense throughout. [6]

Accepted coat colours: The coat is an even and solid color at the skin. [6]

Temperament: the Poodle carries itself proudly and is very active and clever, with a distinctive dignified air all its own. A shy or sharp disposition is a major fault, as is any clear departure from the standard's described traits. [6]

One disqualification is: Size: a dog outside the stated height limits is disqualified. [6]

Porcelaine — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Porcelaine originated in France. [7]

The FCI standard number for the breed is 30. [7]

The breed's declared utilization is Scenthound. [7]

Accepted coat colours: Very white, with roundish orange spots, never extended to a mantle. [7]

Standard field 'COAT Hair': Smooth, thin, close lying and shining; without bare patches. [7]

Portuguese Podengo — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Size: AKC recognises Grande (22 to 28 in, 44 to 66 lb) and Medio (16 to 22 in, 35 to 44 lb), almost square in proportion and about 10 percent longer than tall; FCI also has a Small size (20 to 30 cm, 4 to 6 kg), with Medium 40 to 54 cm (16 to 20 kg) and Large 55 to 70 cm (20 to 30 kg). [6]

Build and head: a lean, well-muscled, sound dog with a four-sided pyramid-shaped head, prick ears, and a sickle tail; the body is slightly longer than the height at the withers with a medium-width chest reaching the elbow and a slight tuck-up. [6]

Coat: two textures — a short, very dense smooth coat with undercoat, and a rough, harsh wire coat without undercoat that forms a distinct beard; shown natural, with only the face and feet permitted to be trimmed. A silky or soft coat is a fault. [6]

Colour: yellow-and-white or fawn-and-white in any shade, or mainly white with patches of yellow or fawn; black or brown with white patches is accepted but not preferred. Brindle and solid white are faults. [6]

Temperament: intelligent, independent, affectionate and alert, though often wary with strangers, which is not penalized. [6]

Portuguese Sheepdog — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Portugal. [7]

Its FCI standard is number 93, in Group 1 (Sheepdogs and Cattle Dogs, except Swiss), Section 1 Sheepdogs, with no working trial. [7]

Its use is as a sheepdog for herding and guarding livestock. [7]

Height at the withers is 45 to 55 cm for males and 42 to 52 cm for females, with a weight of 17 to 27 kg for both sexes. [7]

The coat is long, straight or slightly wavy, with a slightly harsh goat-like feel and no undercoat; it forms a beard, moustache and brows, and is very long over the head, body and limbs including between the toes. [7]

Colours are yellow, brown, grey, fawn or wolf-grey in light, medium or dark shades, with black, usually carrying tan markings of varying prominence; pied patterns are not allowed except for a very small white chest spot. [7]

Portuguese Water Dog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Its FCI standard is number 37; under FCI it is in Group 8, the retriever and water-dog group, Section 3 Water Dogs, with no working trial. [6]

AKC height is 20 to 23 inches for males (ideal 22) and 17 to 21 inches for bitches (ideal 19); FCI gives 50 to 57 cm for males (ideal 54) and 43 to 52 cm for females (ideal 46), with weight 42 to 60 lb (19 to 25 kg) and 35 to 50 lb (16 to 22 kg) respectively. [6]

The coat is profuse and firmly rooted, of strong healthy hair with no undercoat, covering the body evenly except for thinner hair under the forelimb and in the groin; it comes as either tight cylindrical curls or gentle waves, and is shown in a lion or retriever clip. [6]

Accepted colours are black, white and various browns, plus black or brown combined with white; FCI also permits solid white provided the nose, eyelids and mouth stay pigmented and limits white markings to certain areas. [6]

The temperament is spirited, strong-willed, brave and very tireless, with exceptional intelligence and a loyal, obedient nature toward its owner and handlers; FCI adds that it is a willing, sober, penetrating swimmer and diver. [6]

Presa Canario — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed comes from Spain (the Canary Islands) and is a molossoid dog of medium size with a rectilinear profile and black mask. [7]

FCI assigns it to Group 2 (Pinscher and Schnauzer, Molossoid and Swiss Mountain/Cattle Dogs), Section 2.1 for the Molossoid Mastiff type, without working trial; its use is a guard dog protecting cattle. [7]

Height at the withers is 61–66 cm for males and 57–62 cm for females; weight is 45–57 kg in males and 40–50 kg in females. [7]

The coat is short, coarse and flat with no undercoat (which may appear on the neck and behind the thighs). [7]

Colours run through all shades of brindle and fawn up to sand, plus black; white markings on the chest, neck, throat and feet are allowed but kept to a minimum, and the mask is always black. [7]

Temperament is severe and attentive, balanced and very self-confident, with a low deep bark; it guards and herds cattle, is obedient and devoted with the family yet suspicious of strangers, and carries a confident, noble, somewhat distant air. [7]

Faults include a pincer bite, excess wrinkles and a claw (minor); severe faults cover anything harming expression or type such as a greyhound-like build, wrong head proportions, a square profile, a triangular head, a thin or curled tail, saddle or roach back, light eyes, excessive undershot mouth, insufficient mask, butterfly nose, and missing teeth other than P1. [7]

Pudelpointer — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A German pointing dog (FCI standard 216) in Group 7 (Pointing Dogs), Section 1.1 (Continental Pointing Dogs), with a working trial; it was created from Poodle and Pointer bloodlines. [7]

Bred as a versatile working gundog with every aptitude, able to work in fields, woods and water. [7]

Size at the withers: dogs 60–68 cm, bitches 55–63 cm. [7]

The coat lies close and flat, is a hard and rough medium-length outer layer over a dense undercoat; the top coat reaches 4–6 cm at the withers, with a beard and a wood-shaving-like forelock. [7]

Colour is whole-coloured only: brown, dead-leaf, or black; small white markings are allowed. [7]

Faults include a sway or roach back, elbows turning in or out, barrel legs, cow hocks, a stiff or mincing gait, and a coat that is too long or thin or lacks undercoat. [7]

Pug — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Weight: AKC finds 14–18 lb desirable; FCI gives an ideal of 6.3–8.1 kg and warns that bulk must not become obesity. [6]

The coat is short, fine and smooth with a soft sheen; it is neither coarse nor woolly. [6]

Colour: AKC allows only fawn or black; FCI also accepts silver and apricot, all with clear contrast against a black mask and a black dorsal trace, the mask, ears, cheek moles, forehead thumb-mark/diamond and trace being as black as possible. [6]

Temperament is even-tempered and cheerful, full of charm and dignity, intelligent, playful and happily outgoing; the AKC stresses a stable, loving nature. [6]

AKC disqualifies any colour outside fawn or black. [6]

Puli — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Puli comes from Hungary. [6]

Its FCI standard is number 55, listed under Group 1 (sheepdog and cattle-dog breeds), Section 1 Sheepdogs, with no working trial. [6]

The breed's working role is herding. [6]

AKC ideal height is 17 inches for males and 16 inches for bitches, with an inch either way tolerated; FCI gives 39 to 45 cm for males (ideal 41 to 43) and 36 to 42 cm for females (ideal 38 to 40), with weight 13 to 15 kg and 10 to 13 kg respectively. [6]

The coat is dense and weatherproof, abundant over the whole body; the outer hair is wavy or curly but never silky, the undercoat is soft and woolly, and the coat naturally develops into cords. [6]

Permitted colours are solid rusty black, black, any shade of grey, and white; AKC allows a chest spot up to 2 inches, while FCI permits a white forechest patch under 3 cm and white between the toes, and also lists fawn with a black mask and pearl white. [6]

The temperament is affectionate, intelligent and devoted to the home, sensibly suspicious and so a good watchdog; extreme timidity or shyness is a serious fault. [6]

Pumi — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed comes from Hungary, developed from the Puli with terrier-type dogs; it is a medium-sized herding dog. [6]

FCI places it in Group 1 (Sheepdogs and Cattle Dogs), Section 1 (Sheepdogs), without working trial; its use is herding (standard no. 56). [6]

Height at the withers is 41–47 cm for dogs and 38–44 cm for bitches (AKC 16–18½ in dogs, 15–17½ in bitches); weight is 10–15 kg for dogs and 8–13 kg for bitches (AKC 27–29 lb dogs, 22–24 lb bitches). [6]

The coat is wavy and curly, forming corkscrews or curls and never smooth or corded, made of harsh guard hair over a soft undercoat and standing 1½–3 inches off the body. [6]

Accepted colours are black, white, and shades of grey, plus fawn from pale cream to red; a small white chest mark and white toe tips are allowed, but a multicolour pattern or patches are barred. [6]

Temperament is lively, alert, intelligent, bold and eager for work, yet reserved with strangers; FCI also calls the dog restless, very bold and rather noisy. [6]

Any departure from the standard is a fault, with extra weight given to features that separate the Pumi from the Puli (head, ears, tail, coat). [6]

Pyrenean Shepherd — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and type: a French herding dog from the Pyrenees, small, sinewy, lean and lively, built as a horizontal rectangle with a triangular head and windswept face; two varieties occur in the same litters — Smooth-Faced and Rough-Faced (the latter with demi-long or long hair). [6]

Size: Rough-Faced males 15.5 to 18.5 in, females 15 to 18 in; Smooth-Faced males 15.5 to 21 in, females 15.5 to 20.5 in at the withers. Weight is kept minimal — just enough flesh to cover the bones so the ribs can be felt. [6]

Coat: the Rough-Faced dog carries long or demi-long hair of harsh texture (between goat hair and sheep wool) with minimal undercoat, the longer muzzle and cheek hair swept back for a windblown look; the Smooth-Faced dog has short fine muzzle hair and a fine soft body coat reaching at most 3 in on the ruff and culottes and 2 in along the back. [6]

Colour: shades of fawn from tan to copper, with or without black hairs mixed in; grey from charcoal through silver to pearl; merles of various tones; brindle; black; and black with white markings not above 30 percent of the body. A little white on chest, head and feet is acceptable. [6]

Temperament: a versatile, driven herder with a very strong instinct, affectionate and enthusiastic with its own family but distrustful of strangers and eager to be involved in all activity. [6]

Faults: too much white, or white patches that are too large; black with tan points; an excessively long coat or heavy furnishings; too much hair on the head veiling the eyes; loss of more than one incisor or two premolars. [6]

Disqualifications: a dog below the minimum height, or above the maximum by more than half an inch, for its variety and sex; missing pigment on the eye rims; blue eyes in any coat other than merle; a nose that is not black; an overshot or undershot bite; and a white coat covering 50 percent or more of the body. [6]

Rafeiro Do Alentejo — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

FCI places it in Group 2 (Pinscher and Schnauzer, Molossoid and Swiss mountain/cattle breeds), Section 2.2 Molossoid / Mountain type, with no working trial; its standard is number 96. [7]

Its stated use is as a guard dog for property and livestock. [7]

Height at the withers runs 66 to 74 cm for males and 64 to 70 cm for females, with weight 45 to 60 kg and 35 to 50 kg respectively. [7]

The coat is short or medium in length (medium preferred), thick, straight and dense, spread evenly down to between the toes. [7]

Colours are black, grey of the wolf type, fawn or yellow, either brindled or not, and always marked with white, or white with patches of these shades. [7]

Rat Terrier — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Size: two divisions — Miniature at least 10 in but not over 13 in, and Standard over 13 in up to and including 18 in. Any dog six months or older under 10 in or over 18 in is disqualified; short legs are a serious fault. [6]

Coat and colour: a short, close-lying, smooth and shiny coat, with only a slight ruff or wave along the back allowed but undesirable. Any pied pattern is acceptable — large patches of one or more colours with white; allowed colours (with or without tan points) include black, chocolate, red, apricot, blue, fawn, tan, lemon and white, with white preferred at 10 to 90 percent of the body. [6]

Disqualifications: a dog over six months under 10 in or over 18 in; any blue in the eyes; cropped ears; a genetically hairless (coatless) dog; any kink, curl or coat type other than described; a solid colour without white, a bi-colour without white, or white measuring less than one inch at its widest; and brindle or merle patterns. [6]

Redbone Coonhound — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Redbone is an American coonhound, sure-footed and swift, well balanced with a flashy red coat and a keen cold nose; it is powerfully built and a confident, talented hunter. [6]

Height is 22–27 inches for males and 21–26 inches for females, mid-range preferred; the dog stands slightly taller at the shoulder than at the hip. [6]

The coat is short, smooth and coarse enough to give protection. [6]

Solid red is preferred; a dark muzzle and a small amount of white on the brisket and feet are allowed, but white beyond the toes, white stockings or a brisket patch larger than a hand are faults. [6]

Faults cover many points: yellow or drooping eyes, stiff or dome-shaped skull, dished muzzle, a nose not black, overshot or undershot bite, neck out of proportion, hips above the withers, roach or sway back, curled tail, crooked forelegs, flat or open feet, and cowhocks. [6]

The AKC standard lists no disqualifying conditions for the breed. [6]

Rhodesian Ridgeback — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and group: a hound from southern Africa, also called the Lion Dog; AKC Hound group, and under FCI it is a Group 6 breed — the scenthounds and related breeds — and sits in Section 3 among related breeds, exhibited without a working trial. [6]

Size: AKC dogs 25 to 27 in and bitches 24 to 26 in, with desirable weights of 85 lb (dogs) and 70 lb (bitches); FCI males 63 to 69 cm and females 61 to 66 cm, weighing about 36.5 kg and 32 kg. The dog is slightly longer than tall and well balanced. [6]

Coat and colour: a short, dense, sleek and glossy coat that is never woolly or silky; colour ranges from light wheaten to red wheaten, with a little white on the chest and toes allowed but excessive white undesirable. [6]

The ridge: the breed's hallmark is a strip of hair growing backward along the back, clearly defined, tapering and symmetrical, running from just behind the shoulders to between the hips and containing two identical opposite crowns (whorls) whose lower edge reaches no more than a third of the ridge; ridgelessness is a disqualification, and one or more than two crowns is a serious fault. [6]

Build and head: a strong, muscular, athletic hound with a fair-length flat broad skull, round bright eyes, medium ears tapering to a rounded point, a long deep powerful muzzle, and a black or brown (liver) nose matched to eye colour. [6]

Romanian Carpathian Shepherd — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Romanian Carpathian Shepherd originated in Romania. [7]

Under FCI classification the breed is placed in Group 1 Sheepdog and Cattle Dogs (except Swiss Cattle Dogs). [7]

The FCI standard number for the breed is 350. [7]

The breed's declared utilization is Sheepdog used by Romanian shepherds in the. [7]

According to the standard, Height at the withers: Males: Ideally 65 – 73 cm (+- 2 cm). [7]

Accepted coat colours: various shades of brown. [7]

Romanian Mioritic Shepherd Dog — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

This large Romanian livestock guardian descends from a natural Carpathian Mountain breed chosen for working ability; the Romanian Kennel Club first drafted its standard in 1981. [7]

FCI files it under Group 1 (Sheepdogs and Cattle Dogs, excluding Swiss Cattle Dogs), Section 1 Sheepdogs, standard number 349, with no working trial. [7]

Temperament is calm and steady; it is brave against large wild predators such as bear, wolf and lynx, and suspicious of unfamiliar people. [7]

Height at the withers: males at least 70 cm (ideal 75 cm); females at least 65 cm (ideal 70 cm). Weight is in keeping with the frame. [7]

The coat is long and plentiful, harsh and straight, minimum 10 cm. Accepted colours: piebald (white base with distinct black or grey patches); solid white; solid grey. Ear tips are dark-pigmented. [7]

Faults: overweight or weak build; tail curled or carried in a ring; loss of teeth other than PM1 and M3; elbows turning in or out; a heavy gait. [7]

Severe faults: weak sexual dimorphism; untypical look; round protruding eyes; wall eye; erect ears; coat under 8 cm; curly or wrong-textured coat; sagging, arched or dipping topline; spreading feet; over-open hind angulation; cow hocks; brindle markings; undersized height. [7]

Rottweiler — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and group: a German breed; AKC Working group, and under FCI it is placed in Group 2, covering the Pinscher and Schnauzer types together with the Molossian and Swiss mountain and cattle dogs, and within Section 2.1 (Molossian, Mastiff type) shown with a working trial. [6]

Size: AKC dogs 24 to 27 in and bitches 22 to 25 in; FCI males 61 to 68 cm and bitches 56 to 63 cm, with weights about 50 kg for males and 42 kg for bitches. The body is slightly longer than tall (roughly 9 to 10). [6]

Build and colour: a medium-large, robust and powerful dog of compact, substantial build, always black with clearly defined rust to mahogany markings (undercoat gray, tan or black); the markings should not pass about ten percent of the body. [6]

Coat: a straight, coarse, dense, medium-length top coat lying flat, with an undercoat on neck and thighs that must not show through; shown natural with no trimming, and a long coat is a disqualification. [6]

Temperament: calm, confident and courageous with a self-assured aloofness; FCI adds good-natured, placid, devoted, obedient and eager to work, alert yet even-tempered, and an aloof or reserved dog should not be penalized. [6]

Faults: lacking proportion, being under- or oversized, reversal of sex characteristics, yellow or mismatched eyes, poor ear carriage, level bite, missing teeth, wavy or open coat, and off-standard markings are faults or serious faults. [6]

Russell Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was developed in Great Britain as a small, active, predominantly white working terrier built to go to ground. [6]

Under FCI it is placed in Group 3 (Terriers); the FCI standard reproduced in the source is number 339 (there titled Parson Russell Terrier), with utilization given as a working terrier able to go to ground, shown with an optional working trial. [6]

The coat may be smooth, broken or rough, all weatherproof with a harsh outer layer over an undercoat; no coat type is preferred. [6]

Colour is predominantly white with black and/or tan markings, and the dog must stay at least 51 percent white; tan ranges from lemon to mahogany. [6]

The standard describes the temperament as alert, lively, active and keen, a spirited and game hunter that is playful, curious, loyal and affectionate; sparring is not acceptable. [6]

Height is set at 10 to 12 inches; a dog under 10 or over 12 inches is disqualified. [6]

Disqualifying faults also include a nose of any colour but black, prick or semi-prick ears, blue eyes, and an overshot, undershot or wry mouth. [6]

Further disqualifications are a coat with less than 51 percent white, brindle colouring, or any colour outside those listed, as well as any dog showing clear physical or behavioural abnormality. [6]

Russian Toy — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed comes from Russia. [6]

Height at the withers is 8–11 inches under AKC (FCI 22–27 cm, preferred 25 cm); AKC weight is up to 6½ lb (FCI up to 3 kg, preferred 2.3 kg). [6]

Two coat types exist: a smooth coat that is short, close-lying and shiny with no undercoat, and a long coat of 1–3 inch straight or slightly wavy hair with fringes on the ears, limbs and tail. [6]

Accepted colours include black-and-tan, chocolate-and-tan, blue-and-tan, red (in several shades), red sable and red brown; FCI also lists lilac-and-tan, fawn and cream. [6]

Saarloos Wolfhond — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is The Netherlands. [7]

Its FCI standard is number 311, listed in Group 1 (Sheepdogs and Cattle dogs, except Swiss), Section 1 Sheepdogs, with no working trial. [7]

Height at the withers is 65 to 75 cm for males and 60 to 70 cm for females, with slight upward deviation allowed. [7]

The coat changes with the season: in winter a thick underlayer with guard hairs forms a heavy coat and neck ruff, while in summer the guard hairs dominate; hair must cover the belly, inner thighs and scrotum. [7]

Acceptable colours span from light to dark, with black-tipped game colour (wolf-grey, boar or hare tone) and brown-tipped game colour; typical pale wolf markings from cream to white appear on the underside, inner legs, breeches and under the tail, with a dark outer-limb shading and an expressive mask. [7]

The temperament is lively and energetic with a proud, independent streak and a will of its own; it is devoted and dependable with its owner but reserved and wolf-like with strangers, tending to avoid the unfamiliar. [7]

Saint Bernard — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A powerful, proportionately tall and muscular dog with a strong head and an intelligent expression; it comes in shorthaired and longhaired varieties that are alike except for the coat. [6]

Height at the shoulder is at least 27½ inches for dogs and 25½ inches for bitches. [6]

The shorthaired coat is very dense, smooth-lying and tough without feeling rough; the longhaired coat is of medium length, plain to slightly wavy, never rolled, curly or shaggy, with a bushy tail. [6]

Colour is white with red or red with white in its shades, with brindle patches and white markings; required white markings are the chest, feet, tail tip, noseband, collar or nape spot, and the dog is never of one colour or without white, while dark head/ear shadings are favoured. [6]

Faults include a swayback or over-long back, too-bent hocks, straight hindquarters, hair growing up between the toes, out-at-elbow, cowhocks and weak pasterns; the AKC standard gives no disqualifying conditions. [6]

Saluki — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's origin is the Middle East. [6]

Under FCI it belongs to Group 10 (Sighthounds), Section 1, the long-coated or fringed sighthound section, with no working trial. [6]

Its FCI standard number is 269, and its declared use is as a hunting and coursing hound. [6]

Height at the withers averages 58 to 71 cm (23 to 28 inches), with bitches proportionally smaller; AKC gives dogs 23 to 28 inches and bitches considerably smaller. [6]

The coat is smooth with a silky feel; there is light feathering on the legs and at the back of the thighs, and sometimes a little woolly feather on the thigh and shoulder, while the smooth variety carries no feathering. [6]

Any colour or mixture of colours is allowed; FCI notes brindles are undesirable, while AKC offers sample colours including white, cream, fawn, golden, red, grizzle with tan, and black with tan (the last also as tricolor with white). [6]

Samoyed — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Samoyed comes from Northern Russia and Siberia, its name taken from the Samoyed tribes of that region (FCI). [6]

Under the FCI system the breed sits in the fifth group, the Spitz and primitive types group, and within that in Section 1, the Nordic sledge dogs section, with no working trial (FCI). [6]

The AKC describes a working dog of beauty, alertness and strength with agility, dignity and grace, carrying a heavy, weather-resistant coat suited to cold climates (AKC). [6]

AKC height is 21 to 23½ inches for males and 19 to 21 inches for females at the withers (AKC). [6]

The coat is double: a soft, short, thick, close under-layer of wool with longer, harsh, straight outer hair that is free of curl, forming a ruff around neck and shoulders that is fuller on males and showing a silvery sheen (AKC/FCI). [6]

Accepted colours are pure white, white with biscuit, cream, or all biscuit; the FCI adds that the base should be white with a few biscuit markings and never look pale brown (AKC/FCI). [6]

Disqualifying colours under both clubs are any coat colour apart from pure white, cream, biscuit, or the white-and-biscuit mix; blue eyes are also a disqualification (AKC/FCI). [6]

The head is a powerful wedge with a broad skull and a strong, deep muzzle about as long as the skull, tapering to a straight bridge; the lips are black and curve up at the corners to form the characteristic Samoyed Smile (FCI/AKC). [6]

Eyes are dark (brown per FCI, dark preferred per AKC) and almond shaped, while the ears are erect, thick and triangular with slightly rounded tips, set high and well apart (FCI/AKC). [6]

The tail is moderately long, reaching about the hock when lowered, and is carried curled forward over the back or side when the dog is alert, dropping at rest (AKC/FCI). [6]

FCI ideal height is 57 cm for males and 53 cm for females, each with a tolerance of ±3 cm; the body runs about 5% longer than its height at the withers (FCI). [6]

Schapendoes — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Schapendoes originated in Netherlands. [7]

The FCI standard number for the breed is 313. [7]

The breed's declared utilization is The Nederlandse Schapendoes is a herding dog. [7]

Accepted coat colours: All colours are permitted. [7]

Size (FCI standard n° 313/14): dogs stand 43–50 cm at the withers. [7]

Schipperke — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Size: AKC height 11 to 13 in for males and 10 to 12 in for bitches; FCI weight 3 to 9 kg, with an average of 4 to 7 kg sought. [6]

Build: a small, thickset, cobby, tailless dog of square profile with a fox-like face; the distinctive stand-out ruff, cape and culottes make it look higher at the shoulder than the rump. [6]

Coat and colour: a highly characteristic coat of several natural lengths — short on face, ears, forelegs and hocks, medium on the body, longer in the ruff, cape, jabot and culottes — straight and slightly harsh, with a dense soft undercoat. The outer coat must be black (the undercoat may be slightly lighter); any natural black is required, and lack of coat-length differentiation is heavily penalized. [6]

Head and temperament: small triangular erect ears (a drop ear is a disqualification), small oval dark eyes and a black nose give a questioning, mischievous, alert expression; the dog is curious, faithful, reserved with strangers and confident, reflecting its vermin-hunter and watchdog past. [6]

Faults (FCI): cloddy or rectangular build, foxy head, narrow or flat chest, faulty angulation, poor movement, and a coat that is too short, too long, soft, silky or lacking ruff/mane/frill/culotte; timid or apathetic temperament; loss of specified teeth is a severe fault. [6]

Scottish Deerhound — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed is a rough-coated sighthound that should resemble a Greyhound of larger size and bone, with easy, active and true movement. [6]

Height is 30–32 inches for dogs (sometimes more if still balanced) and 28 inches upward for bitches; weight is 85–110 lb in dogs and 75–95 lb in bitches. [6]

The coat is harsh and wiry, about 3–4 inches long on the body, neck and quarters, softer on the head, breast and belly, with a slight fringe on the legs; a woolly coat is faulty. [6]

Colour is a matter of preference: dark blue-grey is most liked, then other greys and brindles, and yellow, sandy red or red fawn (especially with black ears and muzzle) are equally valued; white is disliked, though a white chest and toes are tolerated. [6]

Disqualification: a white blaze on the head, or a white collar. [6]

Scottish Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and group: a British terrier; AKC Terrier group, FCI Group 3 (Terriers), Section 2 Small-sized Terriers, without working trial. [6]

Size: AKC height at the withers about 10 inches, back length about 11 inches, dogs 19 to 22 lb and bitches 18 to 21 lb; FCI height 25 to 28 cm, weight 8.5 to 10.5 kg. [6]

Build: a small, sturdy, compact, short-legged dog of good bone and substance with a cobby body, a long head in proportion to size, a keen "varminty" expression, prick ears and an erect tail. [6]

Coat and colour: a broken coat of hard, wiry outer hair over a soft dense undercoat that resists weather; colours are black, wheaten or brindle in any shade, with white allowed solely on the chest and chin and only to a slight degree. [6]

Penalised faults (AKC): a soft or curly coat; round, protruding or light eyes; overshot or undershot jaws; obvious over- or under-size; shyness or timidity; upright shoulders; weak front reach or rear drive; stiff or too-wide / too-close movement; a narrow front or rear; being out at the elbow; lacking bone and substance; a low-set tail; poor nose pigment; a coarse head; or failing to show head and tail up. [6]

Sealyham Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A British terrier (FCI standard 74) in Group 3 (Terriers), Section 2 (Small sized Terriers), with no working trial. [6]

Size: AKC gives about 10½ inches at the withers and 23–24 lb for dogs (bitches a little less); FCI caps height at 31 cm (12 in) and cites ideal weights of about 9 kg (20 lb) dogs, 8.2 kg (18 lb) bitches. [6]

The coat resists weather, made of a soft dense underlayer beneath a hard, wiry outer coat; a silky or curly coat is a fault. [6]

Colour is white, possibly with lemon, tan, badger (and per FCI also brown or blue) pied markings on the head and ears; heavy body markings and much ticking are unwanted. [6]

In temperament it is sturdy and game, a workmanlike dog that is alert and fearless yet friendly; the AKC describes it as powerful, determined and keen, with great substance but no clumsiness. [6]

AKC faults include a white, cherry or butterfly nose, light or protruding eyes, prick/tulip/rose/hound ears, overshot or undershot bite, and cowhocks. [6]

Segugio Italiano — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and use: an Italian scenthound (rough-haired "pelo forte" variety) used for hunting hare and wild boar; under FCI it sits in Group 6, the scenthounds and related breeds, placed in Section 1.2 among the medium-sized hounds and shown with a working trial. [7]

Size: height at withers 52 to 60 cm for males, 50 to 58 cm for females, with a +2 cm tolerance for excellent dogs; weight 20 to 28 kg (males) and 18 to 26 kg (females). [7]

Build: a medium dog of square outline, lean and well muscled without fat, capable of working from dawn to dusk; the tail is set high and carried sabre-fashion. [7]

Coat: rough hair not exceeding 5 cm on the body, less harsh on the head, ears, legs, tail and muzzle, with a beard formed under the lips; the hair above the eyes is kept short so it does not hide the eyes. [7]

Colour: the whole range of solid fawn, from dark red fawn with a black overlay to light fawn, and black-and-tan. Fawn dogs may show white on the muzzle and skull (a mask), a white star on the chest, and white on the neck, pasterns, hocks, feet and tail tip, though white is undesirable; black-and-tan with only the chest star is called tricolour. [7]

Temperament: very resistant and fast, working with ardour alone or in a pack; compared with the smooth variety it is more reserved, calm, wise and poised, with a friendly, soft and proud expression touched by a melancholic look and a resonant, harmonious voice. [7]

Shetland Sheepdog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed was developed in Great Britain, descending from the Border Collie of Scotland miniaturised on the Shetland Islands and later crossed with Collies. [6]

The AKC sets height at the shoulder between 13 and 16 inches; dogs below or above that range are disqualified from the ring. [6]

The coat is a double one: a long, straight, harsh outer layer over a short, furry, very dense undercoat that gives the whole coat a standoff quality, with an abundant mane and frill. [6]

Recognised colours are black, blue merle and sable (running from golden to mahogany), all marked with varying amounts of white and/or tan. [6]

The standard calls the temperament intensely loyal, affectionate and responsive to its owner, while reserved but not fearful toward strangers; shyness, timidity, nervousness, stubbornness, snappiness or ill temper are faults. [6]

Disqualifying faults are a height outside the 13 to 16 inch range and a brindle coat; any dog showing clear physical or behavioural abnormality is also disqualified. [6]

Shiba Inu — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Size: males 14.5 to 16.5 in at the withers, females 13.5 to 15.5 in; average weight at the preferred middle of the range is about 23 lb for males and 17 lb for females. Disqualification: males over 16.5 or under 14.5 in, females over 15.5 or under 13.5 in. [6]

Build and head: a compact, well-muscled frame; triangular dark eyes set deep and slanting, small triangular prick ears, a black nose, and a scissors bite. The thick powerful tail is carried over the back in a sickle or curl. [6]

Coat and colour: a double coat of stiff straight guard hairs over a soft dense undercoat, with guard hairs about 1.5 to 2 in long at the withers and a slightly longer brush on the tail; the dog should be shown natural, and trimming is severely penalized, as is a long or woolly coat. Accepted colours are red, black-and-tan and sesame, all with urajiro (cream to white underside); cream, white, pinto or any other colour is a serious fault. [6]

Faults and disqualifications: loss of five or more teeth is a serious fault; an overshot or undershot bite is a disqualification. [6]

Shih Tzu — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The ideal height at the withers is 9 to 10½ inches (not under 8 nor over 11), and mature weight is 9 to 16 pounds. [6]

The coat is luxurious, double, dense, long and flowing, with only a slight wave permitted. [6]

All coat colours are permissible and are judged equally. [6]

Siberian Husky — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Its stated use is as a sledge dog. [6]

Height at the withers is 21 to 23½ inches for dogs and 20 to 22 inches for bitches (FCI 53.5 to 60 cm and 50.5 to 56 cm); weight runs 45 to 60 lb and 35 to 50 lb (20.5 to 28 kg and 15.5 to 23 kg). [6]

The coat is a medium-length double coat that looks well furred but never so long that it hides the dog's clean outline; the undercoat is soft and dense, and the guard hairs lie straight and smooth, never harsh. [6]

Allowed colours cover all ranges of black, grey, red, sable, agouti and white, in solid form or with multiple shades and white markings, including piebald; merle and brindle patterns are not allowed and are disqualified. [6]

Silky Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Australia (FCI names it the Australian Silky Terrier). [6]

Height is 9–10 inches under AKC (FCI 23–26 cm); the body length runs roughly a fifth beyond the height measured at the withers. [6]

Its fur lies flat and is of one layer, fine and shiny to the touch; a centre part runs from the skull along the spine, the head carries a fall of hair, and the coat stops well short of the ground. FCI wants clear space seen beneath the body. [6]

Colour is blue and tan (silver, pigeon or slate blue with deep rich tan); the blue runs from the skull to the tail tip and down the forelegs, while tan marks the muzzle, cheeks, ears, legs, feet and vent, and the topknot is silver or fawn. [6]

Temperament shows the keen, alert air of a terrier; the dog is quick, friendly and responsive, and shyness or excess nervousness is faulted. [6]

Skye Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and group: a Scottish terrier from Great Britain; AKC Terrier group, and FCI places it in Group 3, the terriers, and within Section 2 among the small-sized terriers, exhibited without a working trial. [6]

Size and shape: a long, low dog twice as long as it is high, with a level topline, deep chest of oval ribs and a long well-feathered tail. AKC ideal height is 10 in for dogs and 9.5 in for bitches (length to height 2 to 1); FCI ideal height at the withers is 25 to 26 cm, with length from nose to tail about 105 cm. [6]

Coat: a double coat with a short, close, soft woolly undercoat and a hard, straight, flat outer coat about 5.5 in long; it parts from head to tail and hangs straight down each side, while the head hair veils the forehead and eyes and forms a beard and apron, and the ears carry long straight feathering. [6]

Colour: one overall colour at the skin — black, blue, dark or light grey, silver platinum, fawn or cream — with the desirable black points on ears, muzzle and tail tip; there must be no pattern or clear-cut colour variation, except a permissible white spot on the chest not over 2 in across. [6]

Head and temperament: a long powerful head with close-set brown (preferably dark) eyes, prick or drop ears, and a black nose; the typical working-terrier character is fearless, good-tempered, loyal and canny, friendly with those it knows but reserved and cautious with strangers (FCI adds elegant, dignified, a one-man dog, distrustful of strangers yet never vicious). [6]

Sloughi — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's documented homeland is Morocco; the AKC notes development across North Africa (Morocco, Algeria, Tunisia, Libya) as an ancient sighthound used to hunt hare, fox, jackal, gazelle and wild pig. [6]

Under FCI rules the Sloughi sits in Group 10 (sighthounds) and, within that, Section 3 for the short-haired sighthounds; it is shown without a working trial but with a racing licence. [6]

The FCI standard gives the breed's utilization as Sighthound. [6]

Height at the withers is 26 to 29 inches for males (66 to 74 cm) and 24 to 27 inches for females (61 to 68 cm). [6]

The coat is always smooth, being short, tight and fine over the whole body, shown in natural condition. [6]

Acceptable coat colour runs from light sand (cream) through mahogany red fawn, with or without brindling and with or without black markings such as a mask, black ears, a dark overlay or a black mantle; a small white chest or toe mark is a fault, larger white markings or solid white elsewhere disqualify. [6]

The standard describes the temperament as noble and somewhat aloof, a classy and graceful dog, while the FCI text adds that it is haughty yet deeply attached to its owner and a keen hunter. [6]

Disqualifying faults include ears that are erect, or raised with drooping tips, or rose-type ears unable to lie close to the head; a nose of any colour but black; an overshot or undershot jaw; feathering on ears, tail or legs; and a coat not short, tight and smooth. [6]

Slovakian Wirehaired Pointer — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Slovakia. [7]

FCI places it in Group 7 (Pointing dogs), Section 1.1 Continental Pointing Dogs of the "Braque" type, with a working trial. [7]

Its stated utilization is as a pointer. [7]

Height at the withers runs 62 to 68 cm for males and 57 to 64 cm for females. [7]

The coat has a short, fine underlayer that is normally shed in summer and a topcoat about 4 cm long that is harsh, straight and flat; longer soft hair forms a moustache on the muzzle, the brows are pronounced, and the tail is heavily furnished. [7]

The accepted base colour is a brown-shaded sable known as "grey", in lighter or darker shades and either without white or with white on the legs and chest; "grey" with larger markings or speckling is also seen. [7]

The dog is obedient and easy to train, built to work on open ground, in woodland and in water, including searching for and retrieving wounded game after a shot. [7]

Severe faults include size well outside the standard, a coat colour fading almost to white, a heavy rather than noble build, an over-strong head, an arched back, over-long or thick ears, and coat that is too long, silky, or too short to show a moustache. [7]

Smooth Fox Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A British terrier (FCI standard 12) placed in Group 3 (Terriers), Section 1 (Large and medium sized Terriers), with an optional working trial. [6]

Size: AKC dogs should not top 15½ inches at the withers (bitches lower) and weigh about 18 lb; FCI limits height to 39 cm for dogs (bitches slightly less) and weight 7–8 kg for dogs, 7–7.5 kg for bitches. [6]

The dog should look gay, lively and active, showing bone and strength in a small frame; the FCI adds that it is alert, keen, friendly and fearless. [6]

The coat lies flat and smooth, hard and dense yet plentiful, and the belly and underside of the thighs are not bare. [6]

Colour: white must be the dominant tone; FCI accepts all-white plus white with tan, black-and-tan or black markings, while brindle, red or liver markings are unwanted. [6]

AKC disqualifies prick, tulip or rose ears; a white, cherry or heavily spotted nose; and a badly undershot or overshot mouth. [6]

Soft Coated Wheaten Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Ireland. [6]

FCI assigns it to Group 3 (Terriers), Section 1 covering large and medium-sized terriers, without working trial; it was long used by small farmers to kill vermin and help on the farm. [6]

Height is 18–19 inches for dogs (ideal 18½) and 17–18 inches for bitches (ideal 17½) under AKC; weight is 35–40 lb dogs and 30–35 lb bitches (FCI about 40–45 lb). [6]

The coat is an abundant single coat, soft and silky with a gentle wave, covering the whole body, legs and head and falling forward to shade the eyes; woolly, harsh, frizzy, kinky or stand-away texture is faulted. [6]

Any shade of wheaten is accepted, with occasional red, white or black guard hairs, but the overall impression must be clearly wheaten; blue-grey shading on ears and muzzle is allowed. [6]

Spanish Water Dog — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Spain. [6]

FCI assigns the dog to Group 8, which covers retrievers, flushing dogs and water dogs, and specifically to Section 3 (Water Dogs), where a working trial is optional. [6]

AKC height at the withers is 17½ to 19¾ inches for dogs and 15¾ to 18 inches for bitches; FCI gives 44 to 50 cm for males and 40 to 46 cm for females. [6]

Bodyweight per FCI is 18 to 22 kg for males and 14 to 18 kg for females, kept in proportion to height. [6]

The coat is a single layer, continuously curly, with a woolly feel, and the dog must be shown in its natural state with no aesthetic clipping; left long it forms thin cords. [6]

Accepted coat colours are solid black, brown, beige or white, plus Irish-marked or parti-colour patterns that include white; FCI additionally lists bicolour white-and-black or white-and-brown. [6]

The temperament is loyal, obedient, lively, hard-working and watchful, with strong intelligence and trainability, a protective nature, and natural caution around strangers while affectionate at home. [6]

Spinone Italiano — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Italy. [6]

FCI places it in Group 7 (Pointing Dogs), Section 1.3 Continental Pointing Dogs of the Griffon type, with a working trial; its FCI standard is number 165. [6]

Its stated use is as a pointing dog. [6]

Males stand 23½ to 27½ inches and bitches 22½ to 25½ inches at the withers (FCI 60 to 70 cm and 58 to 65 cm), with weight about 32 to 37 kg for males and 28 to 30 kg for females. [6]

The coat must be a correct harsh single layer with no undercoat; ideal body length is 1½ to 2½ inches (FCI 4 to 6 cm), shorter on the head, ears and legs, forming a rough brush behind the legs and stiff brows, moustache and beard, but never fringes. [6]

Accepted colours are solid white, white with orange, orange roan, white with brown markings and brown roan, with chestnut ("monk's habit") the preferred brown; tricolour, tan points and any black are forbidden. [6]

The temperament is sociable, docile, affectionate and patient, a willing hunter that is tireless and a natural retriever. [6]

St Bernard — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Switzerland. [7]

FCI places it in Group 2 — the Pinscher, Schnauzer, Molossian and Swiss mountain-dog group — Section 2.2 Molossian / Mountain type, with no working trial. [7]

Height at the withers has a minimum of 70 cm for males and 65 cm for females and a maximum of 90 cm and 80 cm respectively; dogs over the maximum are not penalised if balanced and sound. [7]

Two coat types exist: a shorthaired double coat with a dense, smooth, coarse topcoat lying close to the body and abundant undercoat, and a longhaired variety with straight medium-length hair and plenty of undercoat. [7]

The base colour is white carrying smaller or larger clear-red patches (splash-coated) or an unbroken red mantle over back and flanks (mantle dogs); a broken reddish-brown mantle, brindle reddish-brown, and brownish-yellow are also accepted, and certain white markings (chest, feet, tail tip, muzzle band, blaze, neck patch) are required. [7]

The temperament is friendly by nature, ranging from calm to lively, and watchful. [7]

Staffordshire Bull Terrier — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Staffordshire Bull Terrier has a height of 14 to 16 inches per the official standard. [6]

Adult Staffordshire Bull Terrier weigh 28 to 38 [6]

The coat is described as smooth, short and close-lying, and should not be clipped or have whiskers removed. [6]

Permitted coat colours are described as: Allowed colours are red, fawn, white, black or blue, with or without white markings. [6]

The standard characterises the temperament as Its background gives the modern dog notable courage, high intelligence and tenacity. [6]

Disqualifying faults listed in the standard include: Black-and-tan or liver color and merle pattern. [6]

Standard Schnauzer — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and group: a German breed; AKC Working group, and FCI places it in Group 2 and Section 1, the Pinscher and Schnauzer types, with the standard shown with a working trial. [6]

Size and build: a robust, heavy-set, square-built dog (height at the withers equals length from breastbone to rump). AKC ideal height is 18.5 to 19.5 in for males and 17.5 to 18.5 in for females, with more than half an inch over or under these limits a disqualification. [6]

Coat and colour: a tight, hard, wiry coat as thick as possible, made of a soft close undercoat and a harsh outer coat that stands off the back; the hallmark is the arched eyebrows and bristly mustache and whiskers. Accepted colours are pepper-and-salt (black and white hairs mixed, from dark iron grey to silver grey, with a darker facial mask) and pure black with a black undercoat; a small white chest smudge is not a fault. [6]

Head: a strong, rectangular, elongated head narrowing from ears to eyes to nose, with medium dark-brown oval eyes, a large black nose, and a muzzle equal and parallel to the topskull ending in a blunt wedge accentuated by wiry whiskers; a full scissors bite is expected. [6]

Temperament: highly developed senses, intelligence, aptitude for training, fearlessness, endurance and resistance to weather and illness, combining a high-spirited nature with extreme reliability. [6]

Sussex Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

FCI places it in Group 8 (Retrievers, Flushing dogs and Water dogs), Section 2 for flushing dogs, with working trial; its use is as a flushing dog. [6]

Height is 13–15 inches (FCI ideal 38–41 cm) and weight 35–45 lb (FCI about 23 kg); the body is long and low, rectangular and massive. [6]

The coat is abundant, flat or slightly waved with no curl, plus a weather-resistant undercoat; legs, ears and tail are feathered and the neck has a marked frill. [6]

The only accepted colour is rich golden liver; a coat that is too dark or puce counts as a major fault, white on the chest is only a minor fault, and white anywhere else is a major fault. [6]

Despite a somber, serious expression the temperament is friendly, cheerful and tractable; FCI notes a kindly nature and a tendency to give tongue when working. [6]

Faults are graded: major faults are wrong shade of liver, white off the chest or a curled coat; serious faults are a narrow head, weak muzzle, a topknot or a sour, crouching look; minor faults include light eyes, white on the chest, height deviation, light bone, a short or flatsided body, and a non-scissor bite. [6]

Swedish Lapphund — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A typical Spitz of slightly under medium size with a proud head carriage and a rectangular, slightly long body. [7]

Ideal height at the withers is 48 cm for males and 43 cm for females, with an allowance of ±3 cm. [7]

The coat is a profuse double coat that stands straight out from the body, with a dense finely frizzy undercoat and a neck ruff; it is weather resistant. [7]

Colour is usually solid black with typical bear-brown bronzing; white on the chest, feet and tail tip is allowed. [7]

Temperament is lively, alert, kind and affectionate; the dog is receptive, attentive and willing to work, and is versatile enough for obedience, agility, herding and tracking. [7]

Swedish Vallhund — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Swedish Vallhund's country of origin is recorded as Sweden. [6]

The FCI standard lists the Swedish Vallhund's utilization as Herding Heeler. [6]

The Swedish Vallhund has a height of 12½ to 13½ [6]

The coat is described as Medium length hair, harsh; topcoat close and tight. [6]

Permitted coat colours are described as: Coat colour is a sable pattern running from grey through red, with those colours mixed in various shades. [6]

Taiwan Dog — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Under FCI the dog belongs to Group 5 (the Spitz and primitive types) and to Section 7, Primitive Type – Hunting Dogs; it is used for hunting, watching and company, without a working trial. [7]

A medium-sized, dry and sinewy dog with a triangular head, almond eyes, thin prick ears and a sickle tail; the build is nearly square. [7]

Height at the withers is 48–53 cm (males) and 43–48 cm (females), weighing 14–18 kg and 12–16 kg respectively. [7]

The coat is short and hard, lying tight to the body, with a length of about 1.5–3 cm. [7]

Accepted colours are black, brindle, fawn, white, and the combinations white-and-black, white-and-fawn and white-and-brindle. [7]

Temperament is extremely faithful to its owner, keen-sensed, alert, bold and fearless. [7]

Faults include shyness, a level bite, protruding or yellow eyes, too-straight angulation, a curled tail carried over the back, and incorrect size. [7]

Thai Bangkaew — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A square, well-proportioned dog, never short-legged, with a fairly wide deep chest and a double coat forming a neck-and-shoulder ruff and a plumed tail, the ruff more pronounced in males. [7]

Ideal height at the withers is 46–55 cm for males and 41–50 cm for females. [7]

The double coat has a straight coarse guard layer over a soft dense undercoat; the body coat is moderately long, shorter on the head and front of the legs, with feathering on the limbs. [7]

Colour is white with clearly defined patches in lemon, red, fawn, tan or grey, sometimes with blackened tips giving a tri-coloured look, or white with solid black patches; symmetrical head markings and a dark mask are preferred. [7]

Temperament is alert, intelligent, loyal, watchful and obedient, easy to train, and may be a little aloof with strangers. [7]

Faults include a too-broad muzzle, light or large round eyes, large ears, roach or sway back, tail carried close to or to the side of the back, missing ruff or leg feathering, paddling movement, and incorrect size. [7]

Thai Ridgeback — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Thai Ridgeback's country of origin is recorded as Thailand. [7]

The Thai Ridgeback has a height of 22-24 inches per the official standard. [7]

The coat is described as Short and smooth. [7]

Permitted coat colours are described as: Solid colour: red, black, blue and very light fawn (isabella). [7]

Tibetan Mastiff — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The AKC gives the preferred height as 26 to 29 inches at the withers for dogs and 24 to 27 inches for bitches; a dog under 25 inches or a bitch under 23 inches at 18 months or older is disqualified. [6]

The coat is double, with fairly long, thick, coarse guard hair over a heavy soft undercoat that is dense in cold weather and thins in warmer months; it is hard and straight, never silky, curly or wavy. [6]

Accepted colours are black, brown and blue/grey, each with or without tan markings from light silver to rich mahogany, plus gold ranging from pure golden to rich red gold; white on chest and feet is allowed. [6]

The standard describes the temperament as highly intelligent, independent, strong-willed and rather reserved; aloof with strangers and protective of family and property, with shyness unacceptable. [6]

Disqualifying faults cover any coat colour or marking outside those listed (such as white, cream, wolf sable, brindle or particolors), an undershot or overshot bite, and a dog or bitch beneath the minimum height. [6]

Tibetan Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Tibet (China); patronage is held by Great Britain. [6]

Height is about 10 inches (roughly 25.4 cm); weight runs 9–15 lb, with an FCI ideal of 4.1–6.8 kg. [6]

The coat is a silky double coat that lies fairly flat and is moderate in length on the body, smooth on the face and front of the legs, with a neck mane plus feathering on the ears, tail and buttocks; the undercoat is fine and dense. [6]

Every colour and colour mixture is allowed. [6]

Temperament is gay and assertive, highly intelligent and aloof with strangers; FCI adds alert, loyal yet independent. [6]

Any deviation from the standard is treated as a fault, weighted by how serious it is. [6]

Tibetan Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Size: AKC average height 15–16 inches for dogs (bitches a little smaller), weight about 20–24 lb (range 18–30 lb); FCI gives males 36–41 cm at the withers (females slightly smaller). [6]

Build is medium, square and sturdy, with a profuse long coat forming a fall over the eyes and a feathered tail curling forward over the back; the flat, round feet act like snowshoes. [6]

The coat is a double one: a soft woolly undercoat beneath a plentiful fine topcoat that is neither silky nor woolly and may be straight or wavy but not curled; it should not reach the ground. Scissoring or shaving the coat is a serious fault. [6]

Colour: every colour and any mix is permitted, including white; FCI adds that chocolate, liver and merle are the only excluded tones. [6]

Temperament is lively, good-natured and loyal; the dog is clever, alert and game, devoted and affectionate with its family but often reserved toward strangers. [6]

Faults include a weak pointed muzzle, a nose that is not black, overshot or very undershot/wry bite, a long narrow head, loss of the facial fall, a missing adult undercoat, extreme shyness, and height above 17 in or below 14 in. [6]

Tornjak — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Bosnia and Herzegovina and Croatia. [7]

Its FCI use is herding and guarding livestock and acting as a farmyard watch dog. [7]

FCI places it in Group 2 (Pinschers and Schnauzers, Molossoid and Swiss Mountain/Cattle Dogs), Section 2.2 (Mountain type), without working trial. [7]

Height at the withers is 65–70 cm for males and 60–65 cm for females, with a tolerance of ±2 cm; the body is almost square. [7]

The coat is long and thick, with short hair on the face and legs, a coarse straight topcoat, a neck mane, breeches and feathering, plus a dense woolly winter undercoat. [7]

Colour is parti-coloured with clear markings; the dominant ground is usually white, often with a black mantle and white markings, though nearly white dogs with small markings also occur. [7]

Temperament is steady, friendly, courageous, obedient, intelligent, dignified and self-confident; the dog guards fiercely, is wary of strangers yet devoted and calm at home, and is easy to train. [7]

Any departure from the standard is a fault, graded by severity; listed faults include too fine or heavy bone, faulty ears, a pincer bite, missing teeth, a long or roached back, faulty angulation and weak feet. [7]

Tosa — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Tosa is recognised under FCI Standard N° 260, originating in Japan and published 09.12.1997; it was formerly a fighting dog and is now kept as a watchdog. [7]

Under FCI the breed falls in Group 2 (Pinscher/Schnauzer and Molossoid breeds together with Swiss Mountain and Cattle Dogs); its precise placing is Section 2.1 for Mastiff-type Molossoids, and no working trial is required. [7]

The breed is a large, stately dog of robust build with hanging ears, short hair, a square muzzle and a thick-rooted hanging tail that reaches the hocks. Its history traces to 14th-century Japanese dog fighting, a mix of the Shikoku-ken with Western breeds (Bulldog 1872, Mastiff 1874, German Pointer 1876, Great Dane 1924); St. Bernards and Bull Terriers may also have contributed. [7]

The head has a broad skull and rather abrupt stop; the nose is large and black, the muzzle moderately long with a straight bridge, the jaws strong with a scissor bite. Eyes are rather small, dark brown and dignified; ears relatively small, thin and set high, hanging close to the cheeks. The neck is muscular with a dewlap. [7]

The body shows high withers, a level straight back, broad muscular loins and a slightly arched croup; the chest is broad and deep with moderately sprung ribs and a tucked-up belly. The gait is robust and powerful. [7]

The coat is short, hard and dense. Acceptable colours are red, fawn, apricot, black and brindle, with slight white on chest and feet allowed. Minimum height at the withers is 60 cm for dogs and 55 cm for bitches. [7]

Toy Fox Terrier — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A true toy dog that keeps a terrier's keen intelligence, courage and animation, yet is diminutive and devoted; AKC places it in the Toy Group and it shows athletic grace with strength and stamina. [6]

Height is 8½–11½ inches (9–11 preferred); the build is square, with height about equal to length, though bitches may be slightly longer. [6]

The coat is shiny, satiny and fine, smooth to the touch and a little longer around the neck ruff, covering the body evenly. [6]

Four colour patterns are recognised, all with a body more than half white: tri-colour (black head with tan marks), white/chocolate/tan, white/tan, and white/black; the nose is black except self-coloured in chocolate dogs. [6]

The head is elegant, the eyes dark and round, and the ears erect, pointed and inverted-V, set high and close. [6]

Temperament is intelligent, alert, friendly and loyal; like other terriers it is self-possessed, spirited and determined, and stays playful for life. [6]

Faults include an apple head, colour running below the elbow or hock (aside from ticking), and a hackney gait. [6]

Disqualifications: any dog under 8½ or over 11½ inches; ears not erect past six months; a Dudley (unpigmented) nose; undershot, wry, or overshot bite beyond ⅛ inch; a blaze reaching the eyes or ears; any colour combination not listed; a head more than half white; a body not more than half white; or mismatched head and body spot colours. [6]

Transylvanian Hound — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

FCI places it in Group 6 (Scent Hounds and Related Breeds), Section 1.2 for medium-sized hounds, with working trial; it is an independent hunting hound that gives tongue on a scent. [7]

Ideal height at the withers is 55–65 cm, with a minimum weight of about 25 kg; overall balance matters more than the exact measure. [7]

The coat is short, straight, dense and flat, covering even the underside of the belly, longer on the neck, withers, thighs and tail underside, coarse and shiny with an undercoat. [7]

The main colour is black with clearly marked tan points on the eyebrows, muzzle and legs; white marks on the nose, blaze, collar, chest, legs, feet and tail tip are allowed, but white over one-fifth of the body is unwanted. [7]

Temperament is good-natured, courageous and enduring, quiet yet determined and lively, and able to stand extreme weather. [7]

Treeing Walker Coonhound — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Treeing Walker is an American coonhound bred to track and tree raccoons and to excel in coonhound field events; it is alert, intelligent, active, courteous and courageous with great endurance. [6]

Height is 22–27 inches for males and 20–25 inches for females; the dog stands a little taller at the shoulder than at the hip, and weight should match height. [6]

The coat is smooth, glossy and short yet dense enough to protect, a close hard hound coat. [6]

Tri-colour (white, black and tan) is preferred; white may dominate with black markings and tan trim, or black may dominate with white and tan, while white with tan or black spots is also accepted. [6]

Penalties cover many points: a flat or narrow skull with too much bone, high-set short ears, yellow or light eyes, a nose not black, a short thick neck or throatiness, a topline higher at the rear or roached, an over-curved or rat tail, crooked forelegs or weak pasterns, flat splayed feet, and a coat that is too short, thin or soft; other colour combinations are penalised. [6]

The standard lists no disqualifying conditions for the breed. [6]

Vizsla — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A medium-sized, short-coated Hungarian pointing dog; AKC places it in the Sporting Group, while under FCI it sits in Group 7 — the Continental Pointing Dogs of Section 1 — and is judged with a working trial. [6]

Ideal height is 22–24 inches for males and 21–23 inches for females (FCI: 58–64 cm dogs, 54–60 cm bitches); any dog more than 1½ inches outside these limits is disqualified. [6]

The coat is short, smooth, dense and close-lying, with no woolly undercoat, in shaded golden rust; lighter saddle-like shading over the neck and shoulders is common. [6]

The nose is self-coloured; a partially or completely black nose is a disqualification. [6]

Temperament is that of a natural hunter with a good nose and strong trainability: lively, gentle, demonstrably affectionate and sensitive, yet fearless with a protective instinct; shyness or nervousness is penalized. [6]

Disqualifications: a partially or fully black nose; a distinctly long coat; solid white above the toes or anywhere except the forechest; white on the shoulders or neck; and any male over 25½ in or under 20½ in, or female over 24½ in or under 19½ in. [6]

Volpino Italiano — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A small, compact and harmonious Spitz with a long stand-off coat; the body is square, with length matching the withers height. [7]

The coat is dense, very long, straight and harsh, standing off the body and forming a collar around the neck rather than a mane. [7]

Colour is self white, red or black; other shades are accepted. White should be clear like milk, red an intense deer-red, and solid red or black may show a little white on the feet, while red may carry a mask or sable overlay. [7]

Temperament is very attached to home and family, with an exuberant, lively, happy and playful nature. [7]

Weimaraner — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The breed's country of origin is Germany. [6]

Its working role is that of a versatile hunting dog able to work before and after the shot in field, wood and water. [6]

Height at the withers is 25 to 27 inches for dogs and 23 to 25 inches for bitches (FCI 59 to 70 cm and 57 to 65 cm); FCI weight is about 30 to 40 kg for males and 25 to 35 kg for females. [6]

The coat is short, smooth and sleek, of a solid colour in shades from mouse-grey to silver-grey that usually lightens on the head and ears; a small white chest mark is allowed. [6]

Accepted colours are silver, roe or mouse grey, plus shades of those tones, with the head and ears typically paler; only small white marks on the chest and toes are permitted. [6]

Welsh Springer Spaniel — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The Welsh Springer Spaniel's country of origin is recorded as Great Britain. [6]

FCI files it under Group 8 (retrievers, flushing dogs and water dogs); its section is 2 for flushing dogs and a working trial applies. [6]

The FCI standard lists the Welsh Springer Spaniel's utilization as Flushing dog. [6]

The Welsh Springer Spaniel has a height of 18 to 19 inches per the official standard. [6]

The coat is described as lies naturally straight and flat, soft to handle, and is never wiry or wavy. [6]

Permitted coat colours are described as: The color is rich red and white only. [6]

The standard characterises the temperament as The standard describes a dog that is active, loyal and affectionate in disposition. [6]

Welsh Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

AKC gives height at the withers as about 15 inches, accepted from 15 to 15½; FCI caps height at 39 cm. [6]

Typical weight is around 20 lb under AKC and 9–9.5 kg under FCI. [6]

The coat is wiry, hard and dense, with a short soft underlayer; muzzle, legs and quarters carry thick wiry furnishings. [6]

Accepted colours are a black jacket with tan on the legs, head and quarters (a deep reddish tan, slightly lighter shades allowed), plus a grizzle jacket. [6]

Any departure from the standard counts as a fault, graded by how far it goes. [6]

West Highland White Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

FCI assigns it to Group 3 (Terriers), Section 2 for small-sized terriers, and it is shown without working trial; its stated use is as a terrier. [6]

Ideal height is 11 inches for dogs and 10 inches for bitches under AKC (FCI about 28 cm), with a little leeway allowed. [6]

The coat is a white, hard, weather-resistant double coat of straight hard hair over a short soft undercoat, with the jacket about 1½–2 inches long and a wheaten tip preferred over a soft white coat. [6]

The only accepted colour is white. [6]

Temperament is alert, confident, courageous, self-reliant and friendly, with a noticeable sense of self-worth; FCI adds small, active, game and gay. [6]

Faults include barrel ribs, ribs above the elbows or no body overhang, out-at-elbow or light bone, weak or cow hocks, poor reach or drive, stiff movement, and either excess timidity or pugnacity. [6]

Wetterhoun — breed standard (FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Ideal height is 59 cm for males and 55 cm for females, with weight about 34 kg and 28 kg respectively. [7]

The coat is made of dense, solid curls that feel coarse and rather greasy, while the head and legs carry short hair. [7]

Colours are solid black with white chest and/or toe markings, or solid brown with the same white markings; black or brown patches, ticking and roan are also allowed. [7]

Temperament is self-willed by nature; as a family pet it is affectionate and watchful, keen on vermin, and initially reserved with strangers but not fearful. [7]

Faults include a too narrow skull, sagging feet, loose heavy lips, bulging or deep-set eyes, prey-like yellow eyes, a muzzle not straight, ears not lying close, and a thick ear auricle; severe faults are missing sexual dimorphism, several missing teeth, or a wrong colour. [7]

Whippet — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

FCI assigns it to Group 10 (Sighthounds), Section 3 for short-haired sighthounds, without working trial; its early use was hunting by scent or by sight. [6]

Height is 19–22 inches for dogs and 18–21 inches for bitches under AKC (FCI about 47–51 cm and 44–47 cm). [6]

The coat is short, close, smooth and firm in texture; AKC treats colour as immaterial while FCI allows any colour or mixture except merle. [6]

Wire Fox Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Origin and group: a British terrier; AKC Terrier group, and FCI places it in Group 3, the terriers, and within Section 1 covering the large and medium terriers, with the working trial optional. [6]

Size: AKC dogs should not exceed 15.5 in at the withers (bitches proportionately lower), with back length not over 12 in, head 7 to 7.25 in, and a show weight about 18 lb (a bitch some 2 lb less); FCI height at the withers not above 39 cm with an ideal weight near 8.25 kg. [6]

Build: alert, quick and keen, with bone and strength packed into a small compass; it must stand like a short-backed hunter covering plenty of ground, never leggy and never too short on leg, and the back should be short, level and strong. [6]

Coat and colour: a broken, dense, wiry coat of coconut-matting texture with a softer undercoat beneath, averaging 0.75 to 1 in on neck and shoulders and lengthening to 1.5 in on the back and quarters (a curly coat is objectionable); white should predominate, while brindle, red, liver or slaty blue are objectionable, though black, black-and-tan or tan markings are allowed. [6]

Head: dark, fiery, moderately small eyes; small V-shaped ears that fold forward (prick, tulip or rose ears are disqualifications); and a black nose (a white, cherry or heavily spotted nose is a disqualification). [6]

Wirehaired Pointing Griffon — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

A medium-sized, noble-headed, strong-limbed versatile hunting dog bred to work all terrain on foot; it points in the field and retrieves from water and is nicknamed the "supreme gundog". [6]

Height is 22–24 inches for males and 20–22 inches for females; the build is slightly longer than tall (about 10:9) and oversize is severely penalised. [6]

The coat is a double coat with a hard, wiry, never curly or woolly outer layer and a thick fine undercoat, giving an unkempt look; the head carries a marked moustache and eyebrows. [6]

Preferred colour is steel grey with brown markings, also chestnut, roan, white-and-brown or white-and-orange; an all-brown, all-white or white-and-orange coat is less wanted. [6]

Temperament is quick, intelligent and easily trained, outgoing, eager to please and trustworthy, making both a fine family dog and a careful hunting partner. [6]

Disqualifications: a nose of any colour other than brown, and a black coat. [6]

Xoloitzcuintli — breed standard (AKC: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

Two varieties and three sizes: hairless and coated forms are identical except for coat and dentition. Height classes are Toy (at least 10 up to 14 in), Miniature (over 14 up to 18 in) and Standard (over 18 up to 23 in); a dog under 10 in or over 24 in is disqualified. [6]

Build: a lean, sturdy, well-muscled dog of rectangular outline with a spacious ribcage and moderate bone; the distance from elbow to ground equals or slightly exceeds the distance from withers to elbow, and the body is slightly longer than tall in a 9 to 10 ratio. [6]

Coat and colour: the hairless variety's main trait is the total or near-total lack of hair, with only a little short coarse hair allowed on the crown of the head, the feet, and the final third of the tail; the coated variety wears a short flat coat. Skin is tough, smooth and close-fitting. A dark uniform colour is preferred — black, gray-black, slate, red, liver or bronze — though white spots and markings are permitted; in either variety a long, soft or wavy coat is a serious fault. [6]

Head and dentition: a wedge-shaped skull tapering to a longer-than-skull muzzle, almond eyes ranging yellow to black, and large erect ears; a scissors bite is expected, but in the hairless variety missing premolars or incisors are acceptable, while the coated variety requires full dentition. [6]

Temperament and disqualifications: typical Xolo temperament is calm, tranquil, aloof and attentive. Disqualifications are a height under 10 or over 24 in, and cropped ears. [6]

Yorkshire Terrier — breed standard (AKC & FCI: size, coat, temperament, type)

All lines in this block are paraphrased derived summaries — non-Open-Access source.

The coat is glossy, fine and silky, parted on the face and from the skull to the tail tip, hanging straight and evenly down each side; the body coat is moderately long and straight, never wavy. [6]

Colour is dark steel-blue (not silver) with rich golden tan; the blue runs from the back of the neck to the tail root, and the tan on head and legs is darker at the roots, with no sooty or black hair mixed in. [6]

Weight must not exceed 7 pounds (AKC); the FCI limit is up to 3.2 kg. [6]

The head is small and rather flat, with a black nose, dark sparkling eyes and small V-shaped ears carried erect; the bite may be scissors or level. [6]

Temperament is that of an alert, intelligent toy terrier, spirited yet even in disposition. [6]

Disqualifications (AKC): a coat that is a single solid colour, or any mixture of colours other than blue and tan; also any white marking apart from a forechest spot no longer than 1 inch at its longest. [6]

Breed-Specific Health

Affenpinscher — The disease is also called Arnold Chiari malformation; caudal occipital malformation syndrome; occipital hypoplasia; hindbrain herniation; Chiari-like malformation (hereditary; OMIA-verified breed predisposition)

Breed: Affenpinscher (Dog) [58]

Disorder: The disease is also called Arnold Chiari malformation; caudal occipital malformation syndrome; occipital hypoplasia; hindbrain herniation; Chiari-like malformation [58]

Mode of inheritance: Multifactorial [58]

Clin feat: Neurological exams may reveal neuropathic pain, weakness and proprioceptive deficits. Reported signs of neuropathic pain include vocalisation, reduced activity, touch aversion and sleep disturbance (Rusbridge, 2020). This is often seen in dogs with more extreme brachycephaly. Common syringomyelia-specific signs include “phantom scratching, scoliosis and sensory and motor signs” (Rusbridge, 2020). Localisation of the neurological signs are consistent with the syrinx location. However, these are only observed in dogs with large syrinxes ≥ 4mm in transverse width. The signs can be intermittent and are often exacerbated during periods of excitement, stress or tactile stimulus like contact by a neck collar (Hechler and Moore, 2018). [58]

Pathology: Development of fluid-filled cavitations of the spinal cord (syrinxes) is characteristic (Rusbridge, 2020). Fluid signal-void signs may also be detected by MRI within the syrinx cavity. This is indicative of an active and filling syrinx with turbulent flow. However, not all syrinxes are clinically significant. A quiescent syrinx is symmetrical with little change to the outline of the spinal cord, while a pathological syrinx generally has an asymmetrical appearance. Other features associated with the disease detected by MRI include conformational changes such as “increased cranial height, rostral displacement of atlas and dens, overcrowding of craniocervical junction and obstruction of CSF flow through the foramen magnum” (Rusbridge, 2020). [58]

Control: Knowler et al (2016) investigated the feasibility of crossbreeding a brachycephalic CM affected GB [Griffon Bruxellois] with a mesaticephalic normal Australian terrier and then backcrossing to produce individuals free of the malformation and regain GB breed characteristics and concluded that by outcrossing breed types and with careful selection of appropriate conformation characteristics in the first generation, it is possible to regain the GB breed standard and reduce the degree of CM. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: CM (no structured Phene_Gene link) Evidence (references) - 2000. Chiari 1/syringomyelia complex in a King Charles Spaniel. Aust Vet J — PubMed:PMID10736666 | DOI:10.1111/j.1751-0813.2000.tb10530.x — OMIA Phene_Article / Article - 2008. Chiari-like malformation and syringomyelia in normal cavalier King Charles spaniels: a multiple diagnostic imaging approach. J Small Anim Pract — PubMed:PMID18631225 | DOI:10.1111/j.1748-5827.2008.00578.x — OMIA Phene_Article / Article - 2007. Report from the Chiari-Like Malformation and Syringomyelia Working Group round table. Vet Surg — PubMed:PMID17614933 | DOI:10.1111/j.1532-950X.2007.00298.x — OMIA Phene_Article / Article - 2007. Chiari-like malformation with syringomyelia in the Cavalier King Charles spaniel: long-term outcome after surgical management. Vet Surg — PubMed:PMID17614920 | DOI:10.1111/j.1532-950X.2007.00285.x — OMIA Phene_Article / Article - 2006. Application of ventriculoperitoneal shunt as a treatment for hydrocephalus in a dog with syringomyelia and Chiari I malformation. J Vet Sci — PubMed:PMID16645349 | DOI:10.4142/jvs.2006.7.2.203 — OMIA Phene_Article / Article - 2009. Syringomyelia in three small breed dogs secondary to Chiari-like malformation: clinical and diagnostic findings. J Vet Sci — PubMed:PMID19934606 | DOI:10.4142/jvs.2009.10.4.365 — OMIA Phene_Article / Article - 2009. [Chiari-like malformation--syringomyelia in the Cavalier King Charles Spaniel]. Tijdschr Diergeneeskd — PubMed:PMID19911737 — OMIA Phene_Article / Article - 2009. Does size matter? The continuing riddle of Chiari and syringomyelia. J Small Anim Pract — PubMed:PMID19689664 | DOI:10.1111/j.1748-5827.2009.00804.x — OMIA Phene_Article / Article - 2012. Questionnaire-based behaviour analysis of Cavalier King Charles spaniels with neuropathic pain due to Chiari-like malformation and syringomyelia. Vet J — PubMed:PMID22738740 | DOI:10.1016/j.tvjl.2012.05.018 — OMIA Phene_Article / Article - 2013. Assessment of cerebellar pulsation in dogs with and without Chiari-like malformation and syringomyelia using cardiac-gated cine magnetic resonance imaging. Vet J — PubMed:PMID23770398 | DOI:10.1016/j.tvjl.2013.05.017 — OMIA Phene_Article / Article - 2012. Changes over time in craniocerebral morphology and syringomyelia in cavalier King Charles spaniels with Chiari-like malformation. BMC Vet Res — PubMed:PMID23136935 | DOI:10.1186/1746-6148-8-215 — OMIA Phene_Article / Article - 2012. Long-term outcome of Cavalier King Charles spaniel dogs with clinical signs associated with Chiari-like malformation and syringomyelia. Vet Rec — PubMed:PMID23100307 | DOI:10.1136/vr.100449 — OMIA Phene_Article / Article - (46 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:118420 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [58]

Afghan Hound — Narcolepsy (hereditary; OMIA-verified breed predisposition)

Breed: Afghan Hound (Dog) [59]

Mode of inheritance: Autosomal recessive [59]

Summary: Narcolepsy is a sleep disorder characterized by shortened sleep latency and cataplexy. Genetic tests are available to detect the causative mutations in HCRTR2. [59]

Clin feat: Dogs with familial narcolepsy may show signs between 4 weeks to 6 months of age. Affected dogss are sleepy, and cannot maintain long stretches of wakefulness. Affected dogs fall asleep faster than normal dogs. Narcolepsy is neither progressive nor life-threatening (Tonokura et al., 2007). In response a positive emotional stimulus (such as food or play) affected animals experience cataplexy, which is a sudden loss of muscle tone without loss of consciousness (Tonokura et al., 2007). During an attack of cataplexy, common first signs are buckling of both hindlimbs and drooping of the neck. The dog then collapses and is still for a period of seconds to minutes. The muscles are always flaccid during attacks. Dogs usually remain conscious and open-eyed during attacks, and are capable of following objects with their eyes. If an attack lasts for longer than a couple of minutes, the dog may fall asleep. Cataplexy can often be treated with tricyclic antidepressants such as imipramine or clomipramine (Tonokura et al., 2007). Prazosin and physostigmine increase cataplexy in narcoleptic dogs and lower hypocretin levels in normal dogs. Methamphetamine, labetalol, and phenylephrine decrease cataplexy in narcoleptic dogs and raise hypocretin levels in normal dogs (Wu et al., 2011). [59]

Pathology: In normal dogs, hypocretin activity is reinforced by a positive feedback mechanism mediated by hypocretin-2 receptors, which is crucial to normal regulation of sleep and wakefulness (Wu et al., 2011). While affected dogs lack functional HCRTR2, they have normal hypocretin-1 receptors, normal CSF hypocretin levels, and normal numbers of hypocretin neurons (Wu et al., 2011). [59]

Control: Relatives of affected dogs should be tested. Breeding of affected dogs or carriers is not recommended. [59]

Gen test: There are tests available to detect the causative mutations in the dachshunds, Labrador retriever, and Doberman pinscher. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 399545 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Armed with the mapping knowledge summarised in the Genetic mapping section above, Lin et al. (1999) performed a Herculean series of linkage and comparative physical mapping studies within a 1.8Mb region of chromosome CFA12, finally narrowed the chase down to one comparative positional candidate gene, namely HCRTR2, which "encodes a G protein–coupled receptor with high affinity for the hypocretin n… Evidence (references) - 1989. Narcolepsy in a Long-Haired Dachshund. Journal of the South African Veterinary Association-Tydskrif Van Die Suid-Afrikaanse Veterinere Vereniging — OMIA Phene_Article / Article - 1989. Canine Narcolepsy Is Associated with an Elevated Number of Alpha-2-Receptors in the Locus Coeruleus. Brain Research — PubMed:PMID2557958 — OMIA Phene_Article / Article - 1990. CNS Monoamines and Their Metabolites in Canine Narcolepsy - A Replication Study. Brain Research — PubMed:PMID1689603 — OMIA Phene_Article / Article - 1989. Restriction Fragment Length Polymorphism in Canine Narcolepsy. Immunogenetics — PubMed:PMID2563354 — OMIA Phene_Article / Article - 1989. Immunogenetics of Narcolepsy. Sleep 88 — OMIA Phene_Article / Article - 1990. Effects of Central Alpha-2 Adrenergic Compounds on Canine Narcolepsy, a Disorder of Rapid Eye Movement Sleep. Journal of Pharmacology and Experimental Therapeutics — PubMed:PMID1972749 — OMIA Phene_Article / Article - 1991. Platelet alpha2 Adrenoceptors in Human and Canine Narcolepsy. Biological Psychiatry — PubMed:PMID1645207 — OMIA Phene_Article / Article - 1991. Genetic Linkage of Autosomal Recessive Canine Narcolepsy with a mu-Immunoglobulin Heavy-Chain Switch-Like Segment. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID1673032 — OMIA Phene_Article / Article - 1991. Dopamine-D2 Mechanisms in Canine Narcolepsy. Journal of Neuroscience — PubMed:PMID1831837 — OMIA Phene_Article / Article - 1991. A Case of Narcolepsy in a Giant-Schnauzer. Kleintierpraxis — OMIA Phene_Article / Article - 1991. Effects of SDZ NVI-085, a Putative Subtype-Selective alpha1- Agonist, on Canine Cataplexy, a Disorder of Rapid Eye Movement Sleep. European Journal of Pharmacology — PubMed:PMID1687464 — OMIA Phene_Article / Article - 1992. Serum Prolactin Response to a D2 Antagonist in Narcoleptic and Control Canines. Sleep — PubMed:PMID1455131 — OMIA Phene_Article / Article - (63 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:161400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602393 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [59]

Afghan Hound — XX sex reversal, XX DSD testicular/ovotesticular (hereditary; OMIA-verified breed predisposition)

Disorder: XX sex reversal, XX DSD testicular/ovotesticular [60]

Summary: Canine XX sex reversal is a type of XX disorder of sexual development (XX DSD, Pasterski et al 2010) characterized by presence of testicular tissue in the gonads and varying degrees of phenotypic masculinization in dogs that have a female karyotype (78, XX). As both Sry and the Y chromosome are absent in affected dogs, it is called Sry-negative XX sex reversal. Diagnosis is dependent upon karyotype (78,XX), PCR assay confirming that Sry is absent, and histology confirming the presence of testicular tissue in the gonads. This XX DSD has been identified in at least 28 pure bred dogs. It has been most extensively studied in the American cocker spaniel (ACS), in which the mode of inheritance is sex-limited autosomal recessive. Studies in the ACS indicate that approximately 10% of affected dogs develop bilateral testes (XX male, testicular XX DSD) and 90% develop ovotestes ( XX true hermaphrodite, ovotesticular XX DSD). Affected dogs with bilateral testes are sterile, as are most with ovotestes. However, affected dogs in the latter category have rarely reproduced as females. Carrier dogs are fertile. To prevent production of affected dogs, breeding of affected or known carrier dogs should be avoided. SRY-negative XX sex reversal has now been reported in at least 28 breeds and mixed breeds, although not all were tested for SRY, as the PCR assay for canine SRY was not available prior to 1995 ([Meyers-Wallen et al., 1995a). While this disorder may be genetically heterogeneous in the dog population in general, the mutation is likely to be identical by descent in closely related breeds, such as English and American cocker spaniels. Normal mammalian prenatal sexual development depends upon the serial completion of three steps. The first is normal segregation of the sex chromosomes into the gametes, so that at fertilization, the zygote contains two sex chromosomes, either XX or XY. The second step is to translate chromosomal sex into gonadal sex, with XX individuals developing an ovary and XY individuals developing a testis. In mammals, gonadal sex is determined by genes on the autosomes and sex chromosomes. The third step is differentiation of the internal and external genitalia, which depends upon testicular hormones and their receptors and signaling pathways in target organs. Masculinization of the genitalia occurs in response to testis hormones, whereas female genitalia develop in their absence. Gonadal development begins with the emergence of the bipotential gonad. Shortly thereafter in XY embryos, a gene on the Y chromosome, SRY (sex determining region Y), dramatically upregulates an autosomal gene, SOX9 (SRY related HMG-box protein 9) during the critical period for Sertoli cell differentiation, which initiates testis development. Several other genes play a role in upregulating and maintaining SOX9 expression in the testis. In the ovarian pathway, R-spondin1 (RSPO1), a gene in the wingless-related protein family (WNT) signaling pathway, has a role in suppressing SOX9-mediated testis pathways in the developing ovary (reviewed in Jakob and Lovell-Badge, 2011). Both WNT4 and RSPO1 signaling lead to an increase in stabilized beta catenin. Recent evidence indicates that SOX9 and beta catenin act antagonistically (reviewed in Jakob and Lovell-Badge, 2011). Changes in gene expression in either the testis or ovarian pathway can disrupt gonadal development, leading to development of testes or ovotestes in XX individuals. Molecular mechanisms reported for development of testes or ovotestes in XX individuals of other species include: 1) SOX9 upregulation during gonadal development induces testis development, either by duplication of SOX9 in XX humans (Huang et al 1999, Cox et al 2011, Vetro et al 2011) or by transgenic manipulation in XX mice (Bishop et al. 2000). 2) Mutations that eliminate or reduce RSPO1 expression. A null RSPO1 mutation induced testis development in related XX individuals (Parma et al. 2006), while a different RSPO1 mutation induced ovotestis development in another family (Tomaselli et al. 2008). Transgenic RSPO1 null mice develop ovotestes, not testes (Chassot et al. 2008). 3) SOX3 upregulation during gonadal development induces testis development, either by genomic rearrangement of its regulatory regions in XX humans, or transgenically in XX mice (Sutton et al. 2011). 4) Mutations that eliminate FOXL2 or PISRT1 expression induce testis development in XX polled goats (Pailhoux et al. 2001, Pannetier et al. 2005). This mechanism has not been identified as a cause of XX sex reversal in other species, and human FOXL2 mutations are associated with premature ovarian failure (De Baere et al. 2003). The ACS model is strikingly similar to the subcategory of human XX DSD in which testes or ovotestes develop in 46,XX siblings, or within the same family, and the genetic defect is unknown [Skordis et al., 1987; Ostrer et al., 1989; Palmer et al., 1989; Kuhnle et al., 1993; Ramos et al., 1996; Slaney et al., 1998]. No candidate genes have yet been linked to the affected phenotype in dogs from the ACS research model (Kothapalli et al., 2003; Kothapalli et al., 2004; Kothapalli et al., 2005; Kothapalli et al., 2006; Pujar et al., 2005). ]. Exon scanning ruled out mutations in the coding region of canine RSPO1 in affected dogs of most breeds in which XX DSD has been reported [DeLorenzi et al., 2008]. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT in 2001; updated by FN in 2015. [60]

Clin feat: Affected dogs (XX male, testicular XX DSD) are most appear as bilaterally cryptorchid male dogs, but have a caudally displaced and pendulous prepuce and hypoplastic penis. Mild hypospadias may also be present. These dogs are sterile (Meyers-Wallen et al., 1988). Variable degrees of masculinization are found in affected dogs with ovotestes (XX true hermaphrodite, ovotesticular DSD). Those most masculinized have an enlarged clitoris containing a bone and/or a misshapen vulva that resembles a prepuce. Clitoral enlargement may be noted within a few months of age or at puberty. Many XX true hermaphrodites in the ACS studies had an apparently normal female external phenotype (Meyers-Wallen and Patterson 1988). Affected dogs with ovotestes may exhibit estrous cycles and rarely, produce offspring. Both XX males and XX true hermaphrodites can occur within the same litter or in the same pedigree. [60]

Pathology: A spectrum of phenotypic variation correlated to the amount of testicular tissue present in the individual was identified in studies of affected ACS dogs (Meyers-Wallen et al., 1988), as follows: 1) XX males with bilateral testes had bilateral epididymides, a prostate, Wolffian duct derivatives, and a complete uterus. The external genitalia included a caudally displaced and pendulous prepuce, hypoplastic penis and usually bilateral cryptorchidism. 2) True hermaphrodites with unilateral or bilateral ovotestes had oviducts and/or epididymides, and a complete uterus. Externally, an enlarged clitoris with a bone and/or misshapen vulva resembling a prepuce, was present in some. In others, the external genitalia had a female phenotype 3) True hermaphrodites with one ovotestis had bilateral oviducts, a complete uterus, and normal female external genitalia. Although biologically active Müllerian inhibiting substance (MIS) is present in neonatal testes and ovotestes from affected dogs, the timing of MIS secretion is delayed. This could explain why the cranial Müllerian ducts regress but the uterus remains (Meyers-Wallen, 2011). [60]

Prevalence: SRY-negative XX sex reversal has been identified in at least 28 dog breeds and a mixed breed dog. [60]

Control: While XX males are sterile, some XX true hermaphrodites have exhibited estrous cycles and reproduced as females. Breeding of true hermaphrodites or parents of affected dogs should be discouraged. [60]

Gen test: Diagnosis is dependent upon karyotype (78,XX), PCR assay confirming that SRY is absent in genomic DNA, and histology confirming the presence of testicular tissue in one or both gonads (ovotestes or testes). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: XXSR (no structured Phene_Gene link) - OMIA molecular-genetics note: Rossi et al. (2014) reported a duplication of a 577kb region on chromosome CFA9 (from 11,016,965 to 11,593,933; CanFam2 genome assembly) containing SOX9, a gene with a central involvement in sex determination, in 2 of 7 cases of this disorder. From a larger study involving 16 affected and 30 control dogs, Marcinkowska-Swojak et al. (2015) concluded that "Our extensive studies have excluded duplica… Evidence (references) - 1988. XX sex reversal in the American cocker spaniel dog: phenotypic expression and inheritance. Human Genetics — PubMed:PMID3417302 — OMIA Phene_Article / Article - 1986. [A rare case of true lateral hermaphroditism in a 78,XX bitch]. Recueil de Medecine Veterinaire — OMIA Phene_Article / Article - 1987. Mullerian inhibiting substance in sex-reversed dogs. Biology of Reproduction — PubMed:PMID3689844 — OMIA Phene_Article / Article - 1990. Male pseudohermaphroditism - A case of a 78,XX intersex. Recueil de Medecine Veterinaire — OMIA Phene_Article / Article - 1986. [Canine male pseudohermaphroditism with female chromosomal pattern]. Journal of the Japan Veterinary Medical Association — OMIA Phene_Article / Article - 1991. XX true hermaphroditism in a Dog. J Am Vet Med Assoc — PubMed:PMID2010338 — OMIA Phene_Article / Article - 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article - 1994. Mullerian-inhibiting substance secretion is delayed in XX sex- reversed dog embryos. Molecular Reproduction and Development — PubMed:PMID7999353 | DOI:10.1002/mrd.1080390102 — OMIA Phene_Article / Article - 1995. SRY-negative XX sex reversal in the American Cocker Spaniel dog. Molecular Reproduction and Development — PubMed:PMID8588928 | DOI:10.1002/mrd.1080410304 — OMIA Phene_Article / Article - 1995. SRY-negative XX sex reversal in the German Shorthaired Pointer dog. Journal of Heredity — PubMed:PMID7560873 — OMIA Phene_Article / Article - 1997. Pyovagina and stump pyometra in a neutered XX sex-reversed Beagle - a case report. Journal of the American Animal Hospital Association — PubMed:PMID8974032 — OMIA Phene_Article / Article - 1999. Inherited disorders in sexual development. Journal of Heredity — PubMed:PMID9987911 — OMIA Phene_Article / Article - (39 additional references in OMIA) [60]

Airedale Terrier — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Airedale Terrier (Dog) [61]

Clin feat: Ramirez et al. (2019) report that the disease results in mild to moderate bleeding propensity, but in most cases it is identified by chance when regular coagulation screenings result in extended prothrombin times (PT). Kaae et al. (2008) report that clinical presentation includes subcutaneous hematoma formation, blood loss anemia, and a history of abnormal bleeding. [61]

Prevalence: Clark et al. (2022) genotyped 67 anticoagulant-negative autopsy cases with unexplained etiology for gross lesions of hemorrhage for the c.407G>A variant (OMIA variant id 40), and reported that All 67 cases tested homozygous for the wild-type allele, indicating that the common FVIID variant was not responsible for the observed unexplained bleeding. [61]

Gen test: Ramirez et al. (2019) identified 2 polymorphisms near the disease-causing F7 gene mutation, one of which interfered with testing in several Beagles by causing allele dropout of the normal, wild-type allele. In the absence of an external proficiency program among veterinary genetic testing laboratories, implementation of an internal proficiency program, which requires 2 independent methods for genotyping dogs at any given locus, was further enhanced by ensuring minimally non-overlapping primer pairs between the 2 assays. After redesign of our clinical tests, all dogs were re-examined, and the correct genotypes were identified. These changes ensure higher accuracy in future testing of the F7 mutation. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3539631 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Callan et al. (2005, 2006) were the first to report a molecular basis for this disorder in dogs, as follows: "a G to A missense mutation in exon 5 in the affected Beagles, resulting in substitution of glycine 96 (GGA) to glutamic acid (GAA) in the second epidermal growth factor-like domain.… Evidence (references) - 1972. Hereditary factor VII deficiency in the Beagle. British Journal of Haematology — PubMed:PMID5045961 — OMIA Phene_Article / Article - 1991. Phospholipase-C-sensitive factor-VII complexes in dog plasma. Thromb Res — PubMed:PMID1788825 | DOI:10.1016/0049-3848(91)90339-x — OMIA Phene_Article / Article - 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost — PubMed:PMID8128434 — OMIA Phene_Article / Article - 1997. Factor VII deficiency in an Alaskan Malamute. Australian Veterinary Journal — PubMed:PMID9196814 — OMIA Phene_Article / Article - 1999. Factor VII deficiency in a mixed breed dog. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1988. Hereditary blood coagulation factor-VII deficiency: a comparison of the defect in Beagles from several sources. Comparative Biochemistry and Physiology. A. Comparative Physiology — PubMed:PMID2896576 — OMIA Phene_Article / Article - 1986. Hereditary blood coagulation factor-VII deficiency in the Beagle: immunological characterisation of the defect. Comparative Biochemistry and Physiology. A. Comparative Physiology — PubMed:PMID2870866 — OMIA Phene_Article / Article - 1984. Persistent uterine and vaginal hemorrhage in a Beagle with factor-VII deficiency. Journal of the American Veterinary Medical Association — PubMed:PMID6469849 — OMIA Phene_Article / Article - 1987. [Congenital deficiency of factor VII in a canine family] [Japanese]. Experimental Animals — PubMed:PMID3436375 — OMIA Phene_Article / Article - 1970. The assay of human factor VII by means of modified factor VII deficient dog plasma. British Journal of Maematology — PubMed:PMID5416591 — OMIA Phene_Article / Article - 1967. Factor VII deficiency in Beagle dog plasma and its use in the assay of human factor VII. Nature — PubMed:PMID6075264 — OMIA Phene_Article / Article - 2003. Sensitivity of different prothrombin time assays to factor VII deficiency in canine plasma. Veterinary Journal — OMIA Phene_Article / Article - (28 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:227500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613878 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [61]

Airedale Terrier — Fatal neonatal interstitial lung disease (hereditary; OMIA-verified breed predisposition)

Disorder: Fatal neonatal interstitial lung disease [62]

Mode of inheritance: Autosomal recessive lethal [62]

Clin feat: Dillard et al. (2020): All 25 affected puppies were born at term with normal delivery. One was stillborn. Six (24%) were lethargic at birth, refused to suckle and developed dyspnea or tachypnea and died or were humanely euthanized at 4–18 hours later. The rest of the puppies (72%) were initially normal until the difficulties in breathing started. Most of these puppies died during one to four days (64%), except one puppy that survived for 7 days and one up to 4 weeks. Full necropsy was performed for the 25 puppies and the main lesion was in the lungs. The lungs of all the puppies, except the 4-week-old, were edematous, congested and appeared poorly aerated.... At four weeks the lungs had a rubbery texture and marked emphysema.... No significant macroscopic changes were detected in other organs. [62]

Prevalence: Dillard et al. (2020) genotyped the LAMP3 likely causal variant in 371 affected and control AT dogs and found that... [the variant] fully segregated with the disease under recessive model (25/371 homozygous mutant, 77/371 heterozygous carrier, 269/371 homozygous wild type).... In this cohort, the carrier frequency was 20.6%.... Finally, to investigate the breed specificity of the LAMP3 variant, we screened additional 6940 dogs from 297 breeds, including eight Airedale Terriers.... Only one heterozygous dog, an Airedale Terrier, was identified, which indicates that the LAMP3 variant is specific to the breed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388302982 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Dillard et al. (2020): "A combined approach of genome-wide association study and whole exome sequencing identified a recessive variant, c.1159G>A, p.(E387K), in LAMP3, a limiting membrane protein of the cytoplasmic surfactant organelles in AECII [alveolar epithelial type II] cells". Evidence (references) - 2020. Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet — PubMed:PMID32150563 | DOI:10.1371/journal.pgen.1008651 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:605883 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [62]

Airedale Terrier — Haemophilia B (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: X-linked recessive [63]

Clin feat: Haemophilia B is characterised by frequent and spontaneous bleeding into joints, muscles, and body cavities, such as the chest and abdomen, due to a deficiency in factor IX (FIX, F9) (Nichols et al., 2020). This can eventually lead to arthropathy associated with progressive cartilage damage, chronic pain, lameness, and eventually joint destruction (Nichols et al., 2020). Prolonged bleeding from minor wounds and haemorrhagic complications post-surgery may also be observed (Nichols et al., 2010). Disease can be classified into mild, moderate, or severe based on plasma FIX levels with 60-70% of patients having a moderate or severe form (Nichols et al., 2020). Animals with the severe form (<1% coagulation activity) can have bleeding episodes that are life threatening. Most carriers have a reduced FIX activity of 40-60% but do not exhibit spontaneous bleeding (Nakata et al., 2006). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 404015 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The causative mutation for this disorder was discovered via the candidate gene approach, by Evans et al. (1989), who reported that the mutant allele in the Chapel Hill Cairn Terrier colony is c.1477G>A, resulting in the substitution of glutamic acid for glycine at codon 379 in the factor-IX peptide. This particular site has been highly conserved throughout evolution: there is a glycine at this … Causal variant(s) - Variant: chromosome A3; nt change XM_006929856.5:c.1000G>A; protein XP_006929918.1:p.(A334T); dbSNP rs5334475117; pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1960. Canine hemophilia B (Christmas disease). Br J Haematol — PubMed:PMID13727144 | DOI:10.1111/j.1365-2141.1960.tb06241.x — OMIA Phene_Article / Article - 1975. Hemophilia A and hemophilia B in a family of French bulldogs. Tijdschr Diergeneeskd — PubMed:PMID1209580 — OMIA Phene_Article / Article - 1962. A comparison of the effect of serum and plasma transfusions on the clotting defect in canine haemophilia B. British Journal of Haematology — PubMed:PMID14477606 — OMIA Phene_Article / Article - 1990. Phenotypic correction of factor IX deficiency in skin fibroblasts of hemophilic dogs. Proc Natl Acad Sci U S A — PubMed:PMID2367529 | DOI:10.1073/pnas.87.13.5173 — OMIA Phene_Article / Article - 1989. Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci U S A — PubMed:PMID2481310 | DOI:10.1073/pnas.86.24.10095 — OMIA Phene_Article / Article - 1991. A Young Male Mongrel with Haemophilia-B (Christmas Disease). Tijdschrift Voor Diergeneeskunde — PubMed:PMID2028457 — OMIA Phene_Article / Article - 1993. In Vivo Gene Therapy of Hemophilia-B - Sustained Partial Correction in Factor-IX-Deficient Dogs. Science — PubMed:PMID8211118 | DOI:10.1126/science.8211118 — OMIA Phene_Article / Article - 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost — PubMed:PMID8128434 — OMIA Phene_Article / Article - 1994. In Vivo Hepatic Gene Therapy - Complete Albeit Transient Correction of Factor IX Deficiency in Hemophilia B Dogs. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID8134398 — OMIA Phene_Article / Article - 1994. Efficient Transfection of Primary Cells in a Canine Hemophilia-B Model Using Adenovirus Polylysine DNA Complexes. Human Gene Therapy — PubMed:PMID8018746 | DOI:10.1089/hum.1994.5.3-313 — OMIA Phene_Article / Article - 1995. Hemophilia B (factor IX deficiency) in a family of German Shepherd Dogs. Journal of the American Veterinary Medical Association — PubMed:PMID7790304 — OMIA Phene_Article / Article - 1996. Haemophilia B in a male mongrel dog - therapy of a haemorrhagic crisis with fresh frozen plasma [German]. Deutsche Tierarztliche Wochenschrift — PubMed:PMID8647012 — OMIA Phene_Article / Article - (74 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:306900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300746 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [63]

Akita — Amelogenesis imperfecta, ACP4-related (hereditary; OMIA-verified breed predisposition)

Breed: Akita (Dog) [64]

Prevalence: Hytönen et al. (2019): To evaluate the segregation pattern, we genotyped the variant by Sanger sequencing in a cohort of 159 Akitas including 6 affected dogs and 153 control samples from our biobank. All affected dogs were homozygous for the variant. Among the control population, we found two dogs, littermates, that were homozygous for the variant and the rest were either heterozygous (n = 36) or homozygous (n = 115) for the wild-type allele (Fig. 4). We also screened the variant in a cohort containing samples from 78 dogs from three-related breeds, including American Akitas (n = 197), Alaskan Malamutes (n = 36), Kai (n = 9) and Hokkaido (n = 3). The screening revealed one homozygote and 44 heterozygotes in American Akitas and no variants in other breeds. The two Akitas and one American Akita that were homozygous for the variant were confirmed to be affected by AI. The carrier frequency was calculated to be 22% in both Akitas and American Akitas. In summary, the ACP4 variant fully segregated with AI in the studied breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388250633 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Hytönen et al. (2019) reported a likely causal variant of this disorder in Akita and American Akita: "A 1-bp insertion in ACP4 [=ACPT] (c.1189dupG) is predicted to lead to a frameshift, p.(Ala397Glyfs), resulting in an abnormal C-terminal part of the protein, and hypoplastic AI [amelogenesis imperfecta]". Evidence (references) - 2019. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet — PubMed:PMID30877375 | DOI:10.1007/s00439-019-01997-8 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:617297 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606362 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [64]

Akita — Macrothrombocytopenia (hereditary; OMIA-verified breed predisposition)

Summary: Hayakawa et al. (2018) provided the first report of this disorder in dogs, in 3 unrelated Akitas. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2016. A novel form of macrothrombocytopenia in Akita dogs.. Vet Clin Pathol — PubMed:PMID26927710 | DOI:10.1111/vcp.12331 — OMIA Phene_Article / Article - 2023. Clinical assessment of primary hemostasis: A review.. Top Companion Anim Med — PubMed:PMID37673175 | DOI:10.1016/j.tcam.2023.100818 — OMIA Phene_Article / Article - 2016. A novel form of macrothrombocytopenia in Akita dogs. Vet Clin Pathol — PubMed:PMID26927710 | DOI:10.1111/vcp.12331 — OMIA Phene_Article / Article - 2023. Clinical assessment of primary hemostasis: A review. Top Companion Anim Med — PubMed:PMID37673175 | DOI:10.1016/j.tcam.2023.100818 — OMIA Phene_Article / Article - 2016. A novel form of macrothrombocytopenia in Akita dogs. Vet Clin Pathol — PubMed:PMID26927710 | DOI:10.1111/vcp.12331 — OMIA Phene_Article / Article - 2023. Clinical assessment of primary hemostasis: A review. Top Companion Anim Med — PubMed:PMID37673175 | DOI:10.1016/j.tcam.2023.100818 — OMIA Phene_Article / Article - 2016. A novel form of macrothrombocytopenia in Akita dogs. Vet Clin Pathol — PubMed:PMID26927710 | DOI:10.1111/vcp.12331 — OMIA Phene_Article / Article - 2023. Clinical assessment of primary hemostasis: A review. Top Companion Anim Med — PubMed:PMID37673175 | DOI:10.1016/j.tcam.2023.100818 — OMIA Phene_Article / Article - 2016. A novel form of macrothrombocytopenia in Akita dogs. Vet Clin Pathol — PubMed:PMID26927710 | DOI:10.1111/vcp.12331 — OMIA Phene_Article / Article - 2023. Clinical assessment of primary hemostasis: A review. Top Companion Anim Med — PubMed:PMID37673175 | DOI:10.1016/j.tcam.2023.100818 — OMIA Phene_Article / Article [65]

Alapaha Blue Blood Bulldog — Dermatosparaxis Ehlers Danlos syndrome (dEDS), ADAMTS2-related; Ehlers-Danlos syndrome, type VII (Dermatosparaxis) (hereditary; OMIA-verified breed predisposition)

Breed: Alapaha Blue Blood Bulldog (Dog) [66]

Disorder: Dermatosparaxis Ehlers Danlos syndrome (dEDS), ADAMTS2-related; Ehlers-Danlos syndrome, type VII (Dermatosparaxis) [66]

Summary: This phene has been renamed from Ehlers-Danlos syndrome, type VII (Dermatosparaxis) to Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022]. [66]

Clin feat: Jaffy et al. (2019): an 8‐week‐old male Doberman Pinscher... was presented to South Willamette Veterinary Clinic for evaluation of cutaneous wounds. The physical examination identified pain, hyper‐mobility and moderate effusion in the carpal, tarsal and stifle joints. In addition, bilateral ocular chemosis and elevation of the nictitating membranes were noted. The skin had several wounds in various stages of healing, and several small, atrophic scars from previous wounds that had healed by secondary intention were apparent. The ventral abdomen had a fresh linear 6‐cm‐long wound. The skin was noticeably loose and hyper‐elastic. Jaffey et al. (2022): The clinical features of these [Pit Bull Terrier and an Alapaha Blue Blood Bulldog] dogs [with the 11:2280117delC, CanFam3.1 deletion] and 4 others with the same homozygous deletion included multifocal wounds, atrophic scars, joint hypermobility, narrowed palpebral fissures, skin hyperextensibility, and joint-associated swellings. Due to severe skin fragility, the owners of all 6 dogs elected euthanasia before the dogs reached 13 weeks of age. Cross sections of collagen fibrils in post-mortem dermal tissues from 2 of these dogs showed hieroglyphic-like figures similar to those from cases of severe dermatosparaxis in other species.. [The Catahoula Leopard Dog with the 11:2491238G>A; p.(Arg966His) variant] exhibited multifocal wounds, atrophic scars, and joint hypermobility, but has survived for at least 9 years. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248681 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Whole-genome sequencing of the single affected dog, followed by sequence analysis of 19 comparative functional candidate genes enabled Jaffy et al. (2019) to identify the likely causal variant as a "C-to-T transition at position 2408978 on chromosome 11. This transition is predicted to alter the ADAMTS2 transcript (ADAMTS2:c.769C>T) and encode a nonsense mutation (p.Arg257Ter)." Jaffey et al. (… Evidence (references) - 2019. A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Anim Genet — PubMed:PMID31294848 | DOI:10.1111/age.12825 — OMIA Phene_Article / Article - 2021. Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet — PubMed:PMID34712265 | DOI:10.3389/fgene.2021.726474 — OMIA Phene_Article / Article - 2021. Connective tissue disorders in domestic animals. Adv Exp Med Biol — PubMed:PMID34807427 | DOI:10.1007/978-3-030-80614-9_15 — OMIA Phene_Article / Article - 2022. Factors associated with canine skin extensibility in toy poodles. J Vet Med Sci — PubMed:PMID35046238 | DOI:10.1292/jvms.21-0266 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2020. The Ehlers-Danlos syndromes. Nat Rev Dis Primers — PubMed:PMID32732924 | DOI:10.1038/s41572-020-0194-9 — OMIA Phene_Article / Article - 2022. Novel homozygous ADAMTS2 variants and associated disease phenotypes in dogs with dermatosparactic Ehlers-Danlos syndrome. Genes (Basel) — PubMed:PMID36421833 | DOI:10.3390/genes13112158 — OMIA Phene_Article / Article - 2025. Dermal pathology in a Catahoula Leopard dog with dermasparaxis Ehlers Danlos syndrome caused by a homozygous ADAMTS2 missense variant. Top Companion Anim Med — PubMed:PMID40086505 | DOI:10.1016/j.tcam.2025.100976 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:225410 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604539 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [66]

Alaskan Husky — Alaskan Husky Encephalopathy (AHE) (hereditary; OMIA-verified breed predisposition)

Breed: Alaskan Husky (Dog) [67]

Disorder: Alaskan Husky Encephalopathy (AHE) [67]

Clin feat: As summarised by Vernau et al. (2013), Dogs with AHE may have acute onset of clinical signs, or chronic progressive waxing and waning clinical history. Typically, they have multifocal central nervous system deficits including seizures, altered mentation, dysphagia, absent menace response, central blindness, hypermetria, proprioceptive positioning deficits, facial hypoalgesia, ataxia and tetraparesis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388251937 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The most likely positional candidate gene in the CFA region (see Mapping section) was SLC19A3, which "controls the uptake of thiamine in the CNS via expression of the thiamine transporter protein THTR2" (Vernau et al., 2013). Having determined that this gene is duplicated in that region of the dog genome, Vernau et al. (2013) showed that the first of these, SLC19A3.1, has a higher sequence similar… Evidence (references) - 1996. Clinical and pathological findings of a Yorkshire terrier affected with necrotizing encephalitis. Journal of Veterinary Medical Science — PubMed:PMID8844603 — OMIA Phene_Article / Article - 1999. Subacute necrotising encephalopathy in an Alaskan husky. Journal of Small Animal Practice — PubMed:PMID10664957 — OMIA Phene_Article / Article - 2000. Alaskan Husky encephalopathy - a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome). Acta Neuropathologica — PubMed:PMID10912920 — OMIA Phene_Article / Article - 2009. Leigh-like subacute necrotising encephalopathy in Yorkshire Terriers: neuropathological characterisation, respiratory chain activities and mitochondrial DNA. Acta Neuropathol — PubMed:PMID19466433 | DOI:10.1007/s00401-009-0548-6 — OMIA Phene_Article / Article - 2013. Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. PLoS One — PubMed:PMID23469184 | DOI:10.1371/journal.pone.0057195 — OMIA Phene_Article / Article - 2015. Thiamine deficiency-mediated brain mitochondrial pathology in Alaskan Huskies with mutation in SLC19A3.1. Brain Pathol — PubMed:PMID25117056 | DOI:10.1111/bpa.12188 — OMIA Phene_Article / Article - 2020. SLC19A3 loss-of-function variant in Yorkshire terriers with Leigh-like subacute necrotizing encephalopathy. Genes (Basel) — PubMed:PMID33081289 | DOI:10.3390/genes11101215 — OMIA Phene_Article / Article - 2021. Description of breed ancestry and genetic health traits in arctic sled dog breeds. Canine Med Genet — PubMed:PMID34544496 | DOI:10.1186/s40575-021-00108-z — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606152 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607483 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [67]

Alaskan Husky — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Disorder: Canine degenerative myelopathy, hereditary canine spinal muscular atrophy [68]

Summary: This is an adult onset degeneration of the spinal cord that progresses to paraplegia and tetraparesis. There is no successful treatment. A genetic test is available. A different mutation in the SOD1 gene causes an early onset disease: [OMIA:002322-9615]: Dyskinesia, paroxysmal, SOD1-related in Canis lupus familiaris. [68]

Clin feat: Most dogs are at least 8 years of age at the onset of clinical signs, which include hyporeflexia, upper motor neuron proprioceptive spasticity and ataxia in the pelvic limbs. Widespread limb muscle atrophy can be observed and the disease progresses to paraplegia and eventually flaccid tetraparesis (Awano et al., 2009). Hyperesthesia, cranial nerve signs (e.g. difficulty in swallowing and barking), urinary and fecal incontinence (Coates et al., 2010) can be observed and in final stages of the disease respiratory muscles fail (Nardone et al., 2016). There is no effective treatment. [68]

Pathology: Histopathologic examination of the spinal cord is necessary for definitive diagnosis. Noninflammatory axonal and myelin degeneration is present at all levels of the spinal cord, being most severe in the dorsal lateral funiculus within the middle to caudal thoracic region. Segmental axonal and myelin degeneration, endoneurial fibrosis, hypomyelinated fibers and secondary demyelination are present in peripheral nerves. Axon cylinder vacuolization is characteristic (Coates et al., 2010). [68]

Prevalence: In an extensive project, Zeng et al. (2014) genotyped 33,747 dogs representing 222 breeds for both known mutant alleles, namely c.52T and c.118A. They concluded that the SOD1:c.118A allele is widespread and common among privately owned dogs whereas the SOD1:c.52T allele is rare and appears to be limited to Bernese Mountain Dogs. Full details are available in the paper. Mizukami et al. (2016) reported the frequency of the c.118A allele as 0.008 in 500 Border collies in Japan. Regarding the insertion reported by Turba et al. (2107), these authors reported that The allele containing the insertion was highly prevalent in Hovawart dogs, accounting for the 26.6% of allele frequency. The insertion was also found in other unrelated breeds such as Rough Collies and Standard Poodles. Santos et al. (2020) genotyped 97 German Shepherd dogs for the SOD1:c.118G>A mutation using a PCR/RFLP test. The dogs were located in Brazil and had no clinical signs of degenerative myelopathy at the time of sampling. They “observed genotype frequencies (with 95% confidence interval) of: 0.758 (0.672-0.844), 0.242 (0.156-0.328) and 0.000 (0.000-0.000) for GG, AG and AA genotypes, respectively.” Maki et al. (2022) genotyped 541 German Shepherd Dogs (GSD) registered with the Japanese GSD Registration Society from 2000 to 2019, for the SOD1:c.118G>A likely causal variant (omia.variant:36). They reported 330 G/G dogs (61%), 184 G/A dogs (34%), and 27 A/A dogs (5%), indicating a frequency of the mutant allele of 0.220. For each of the seven A/A dogs over 10 years old (this being an adult-onset disease), the owners reported DM-related clinical signs, indicating a clinical progression rate of 100%. [68]

Control: Due to the high frequency of the causative mutation in Boxers and Pembroke Welsh Corgis, in these breeds it is not practical to exclude carriers from breeding, so it is recommended that carriers be bred to noncarriers. Breeding of affected dogs of any breed should be avoided. [68]

Gen test: Investigating the many discordant findings between the parental and the offspring genotypes found by different laboratories in testing for the c.118G>A variant, Turba et al. (2017) discovered An insertion of 54 nucleotides [in the SOD1 gene] composed of a poly-T stretch and 15 nucleotides containing the duplication of the exon 2-intron 2 junction was... responsible for the partial mismatch of the reverse primer used for a direct sequencing assay. The mismatch hampered the amplification of the corresponding allele and caused an evident drop-out effect. The insertion is in complete linkage disequilibrium with the c.118G allele. Santos et al. (2020) identified “a deletion of one “T” in the position 26540247 described as ENSCAFG00000008859:g.26540247del … located in the intron 1 of the SOD1 gene. … Although the role of the ENSCAFG00000008859:g.26540247del on structure and expression of SOD1 (and consequently its relationship with CDM) was not investigated in this study, its location does not suggest that it can influence the expression of the studied disease.” However, this variant prevented in a small number of dogs adequate genotyping of the SOD1:c.118G>A in the PCR-RFLP test used in this study. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403559 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 389416327 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The first likely causative variant described is a G to A transition (c.118G>A; p.E40K) in exon 2 of SOD1. All affected dogs tested were homozygous mutant. However, some homozygous mutant dogs had no signs of degenerative myelopathy, which suggests incomplete penetrance or other causative loci (Awano et al., 2009). The mutation is hypothesized to lead to SOD1 aggregation, as cytoplasmic inclusio… Evidence (references) - 1994. Immunohistochemical evidence for immunoglobulin and complement deposition in spinal cord lesions in degenerative myelopathy in German Shepherd dogs. Can J Vet Res — PubMed:PMID8143248 — OMIA Phene_Article / Article - 2002. Degenerative myelopathy in German shepherd dogs. Veterinary Record — OMIA Phene_Article / Article - 2003. Molecular genetic and expression analysis of alpha-tocopherol transfer protein mRNA in German shepherd dogs with degenerative myelopathy. Berl Munch Tierarztl Wochenschr — PubMed:PMID12592926 — OMIA Phene_Article / Article - 2008. Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. J Vet Intern Med — PubMed:PMID18196743 — OMIA Phene_Article / Article - 2009. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A — PubMed:PMID19188595 | DOI:10.1073/pnas.0812297106 — OMIA Phene_Article / Article - 2010. Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract — PubMed:PMID20732599 | DOI:10.1016/j.cvsm.2010.05.001 — OMIA Phene_Article / Article - 2009. Degenerative myelopathy in two Boxer dogs. Vet Pathol — PubMed:PMID19276068 | DOI:10.1354/vp.08-VP-0270-M-BC — OMIA Phene_Article / Article - 2012. Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome — PubMed:PMID22105877 | DOI:10.1007/s00335-011-9376-9 — OMIA Phene_Article / Article - 2013. Genotyping assays for the canine degenerative myelopathy-associated c.118G>A (p.E40K) mutation of the SOD1 gene using conventional and real-time PCR methods: a high prevalence in the Pembroke Welsh Corgi breed in Japan. J Vet Med Sci — PubMed:PMID23328634 | DOI:10.1292/jvms.12-0451 — OMIA Phene_Article / Article - 2011. Immunohistochemical observation of canine degenerative myelopathy in two Pembroke Welsh Corgi dogs. J Vet Med Sci — PubMed:PMID21628865 | DOI:10.1292/jvms.11-0097 — OMIA Phene_Article / Article - 2012. Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh corgis and boxers. J Neurol Sci — PubMed:PMID22542607 | DOI:10.1016/j.jns.2012.04.003 — OMIA Phene_Article / Article - 2013. Neuronal loss and decreased GLT-1 expression observed in the spinal cord of Pembroke Welsh Corgi dogs with canine degenerative myelopathy. Vet Pathol — PubMed:PMID23839236 | DOI:10.1177/0300985813495899 — OMIA Phene_Article / Article - (59 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:105400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:147450 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618598 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [68]

Alaskan Husky — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome [69]

Summary: Collie eye anomaly (CEA) is a complex developmental defect of the posterior segment of the eye characterized by choroid hypoplasia. Malformations are present at birth and may include inadequate development of the choroid (choroidal hypoplasia), defects of the choroid, sclera, and/or optic nerve (coloboma/staphyloma), and complete retinal detachment (with or without hemorrhage). Mildly affected animals will have no detectable vision deficit. (Genetics Committee of the American College of Veterinary Opthalmologists, 2021). [69]

Clin feat: CEA presents as varying levels of visual impairment, from no visual impairment to complete blindness. As summarised by Fredholm et al. (2016), Collie eye anomaly (CEA) is a congenital, inherited ocular disorder which is widespread in herding breeds. Clinically, the two major lesions associated with CEA are choroidal hypoplasia (CH) and coloboma, and both lesions are diagnosed based on ophthalmological examination. Choroidal hypoplasia is noted as a defect in the ocular fundus temporal to the optic nerve, which can be detected during ophthalmoscopic exam. Some affected dogs have tortuous retinal vessels and multiple retinal folds. More severely affected dogs can develop retinal detachments leading to blindness. These dogs can also develop subretinal and preretinal neovascularization and intraocular hemorrhage (Lowe et al., 2003). [69]

Pathology: The choroid is the vascular supply to the retina. The primary defect in this disorder is choroidal hypoplasia. Secondary lesions include colobomas around and in the optic nerve head or the adjacent fundus. Retinal detachment is also a secondary lesion. [69]

Prevalence: Prevalence is estimated to be 70-97% in rough and smooth collies in the USA and Great Britain, and 68% in rough collies in Sweden. In Border collies, prevalence is estimated at 2-3% in the USA and Great Britain (Lowe et al., 2003). Mizukami et al. (2016) reported the frequency of the NHEJ1 deletion allele as 0.143 in 500 Border collies in Japan. Grosås et al. (2018) reported the frequency of the deletion variant as 6.3% in Norwegian Border Collies. In a sample of 465 Italian dogs from five breeds, Marelli et al. (2022) reported that the frequency of carriers (healthy heterozygotes) for the deletion variant (OMIA variant 632) was 50% in Shetland Sheepdog, 45% in Nova Scotia Duck Tolling Retriever, 30% in Border Collie, 17% in Australian Shepherd, and 13% in Rough Collies. Donner et al. (2018) reported that the variant (OMIA variant 632) was identified in additional breeds and reported carrier frequencies: Australian Kelpie: 7.5% (6/80), Chinook: 0.7% (1/151), Jack Russell Terrier: 3.8% (4/105), Parson Russell Terrier: 1.2% (3/243), Koolie: 41% (16/39), Lapponian Herder: 5% (1/20), Tamaskan Dog: 3.5% (3/86) Clark et al. (2023) utilized a large set of genotypes from dogs tested for the progressive rod-cone degeneration–progressive retinal atrophy (prcd-PRA) G>A missense PRCD variant (n = 86,667) and the collie eye anomaly (CEA)-associated NHEJ1 deletion (n = 33,834)... the NHEJ1 deletion may actually be linked to the true causal mutation, as the deletion does not segregate with coloboma or CH in some cases.. Regression modeling showed time progression to significantly affect the odds of a dog being homozygous or heterozygous for either [variant], as do variables including breed and breed popularity. This study shows that genetic testing informed breeding decisions to produce fewer affected dogs. However, the presence of dogs homozygous for the disease variant, especially for prcd-PRA, was still observed fourteen years after test availability, potentially due to crosses of unknown carriers. [69]

Gen test: For limitations on the utility of testing for the published likely causal variant, see the results of Fredholm et al. (2016) and Brown et al. (2018). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3542381 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By a neat bit of detective work that makes use of between-breed variation in linkage disequilibrium in tracking down mutations that are common to several breeds, Parker et al. (2007) discovered that a likely causal variant for Collie Eye Anomaly in four breeds (Collie, Border Collie, Australian Shepherd, and Shetland Sheepdog) is a deletion of 7.8kb in the NHEJ1 gene: 37:g.28,697,542–28,705,340del… Evidence (references) - 1965. Congenital ectasia of the sclera in Collie dogs. I. Clinical features. American Journal of Ophthalmology — PubMed:PMID14268789 — OMIA Phene_Article / Article - 1960. Congenital posterior ectasia of the sclera in Collie dogs. Am J Ophthalmol — PubMed:PMID14437837 | DOI:10.1016/0002-9394(60)90684-x — OMIA Phene_Article / Article - 1970. Breeding of Collies with Collie eye anomaly. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1961. Congenital posterior ectasia of the sclera in Collies. Veterinary Excerpts — DOI:10.1016/0002-9394(60)90684-x — OMIA Phene_Article / Article - 1980. Incidence of colie eye anomaly (Correspondence). Veterinary Record — PubMed:PMID6777963 — OMIA Phene_Article / Article - 1972. Collie eye anomaly: decreased prevalence through selective breeding. Journal of the American Veterinary Medical Association — PubMed:PMID4631461 — OMIA Phene_Article / Article - 1969. Collie eye anomaly: comments. Journal of the American Veterinary Medical Association — PubMed:PMID4980212 — OMIA Phene_Article / Article - 1966. The Collie ectasia syndrome: pathology of the eyes of young and adult dogs. American Journal of Ophthalmology — PubMed:PMID4959239 — OMIA Phene_Article / Article - 1969. Eye anomaly of the Collie. Journal of the American Veterinary Medical Association — PubMed:PMID4980211 — OMIA Phene_Article / Article - 1974. The Collie eye anomaly. Auburn Veterinarian — OMIA Phene_Article / Article - 1980. Visual defects in dogs as the result of breed specific fundus diseases (progressive retinal atrophy and collie eye anomaly). Wiener Tierarztliche Monatsschrift — OMIA Phene_Article / Article - 1986. [Collie eye anomaly. An account of ophthalmoscopic evaluations of Collies in central Sweden in 1974-84]. Svensk Veterinartidning — OMIA Phene_Article / Article - (46 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:611290 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [69]

Alaskan Husky — Gangliosidosis, GM1 (hereditary; OMIA-verified breed predisposition)

Summary: GM1 gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by mutations in GLB1, although the mutations differ by breed. There is a genetic test available. [70]

Clin feat: Affected dogs generally have proportional dwarfism, which is easily observed in the Alaskan husky, and all develop progressive cerebellar dysfunction and limb weakness. Signs include weight loss, ataxia, wide-based gait, decreased proprioception, intention tremor of the head, ataxia, hypermetria, dysmetria, internal strabismus, and positional nystagmus. Signs begin around 6 to 8 weeks of age, and are clearly noticeable by 7 months of age. Abnormal endochondral ossification of vertebral epiphyses was visible in radiographs of 5.5 month old affected Alaskan huskies. Affected dogs occasionally have an increase in serum ALP. Coarse facial features are seen in affected English springer spaniels (Müller et al., 2001, Alroy et al., 1992). Bone marrow transplantation therapy was attempted but ineffective in affected Portugese water dogs (O’Brien et al., 1990). [70]

Pathology: Affected dogs are deficient in acid beta-galactosidase and are unable to completely degrade complex oligosaccharides. The result is lysosomal accumulation of GM1 gangliosides and other galactose-containing glycoconjugates with a nonreduced terminal beta-galactosidic linkage (Müller et al., 2001). On histologic examination, most neurons in the central nervous system contain densely packed, PAS positive cytoplasmic inclusions, giving the appearance of foamy or granular cytoplasm. Other changes include mild demyelination, axonal degeneration, significant astrogliosis, and significant loss of oligodendrocytes (Müller et al., 2001). Vacuoles are also found in hepatocytes and renal tubular epithelial cells (Shell et al 1989). [70]

Prevalence: The frequency of heterozygotes in normal (unaffected) Shiba Inu dogs in Japan has been reported by Yamato et al. (2008) as 2/68 (2.94%) and by Uddin et al. (2013) as 6/590 (1.02%). In unaffected miniature Shibu Inu (called Mame Shiba), Pervin et al. (2022) reported a heterozygote frequency of 9/1832 (= 0.49%). [70]

Control: Relatives of affected dogs should be tested and breeding of affected or carrier dogs should be avoided. [70]

Gen test: There are tests available to detect the known causative mutations. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403873 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Wang et al. (2000) showed that the causative mutation in Portuguese water dogs is a G to A transition in exon 2 of the GLB1 gene, that causes an amino acid change from arginine to histidine in the resultant peptide. The causative mutation in Shiba dogs is a deletion of a cytosine in exon 15… Causal variant(s) - Variant: chromosome C1; pathogenicity class 1; gene T1R2 — OMIA Variant / Variant_Phene Evidence (references) - 1990. Bone Marrow Transplantation in Canine GM1 Gangliosidosis. Clinical Genetics — PubMed:PMID2125250 — OMIA Phene_Article / Article - 1992. Canine GM1-Gangliosidosis - A Clinical, Morphologic, Histochemical, and Biochemical Comparison of Two Different Models. American Journal of Pathology — PubMed:PMID1546746 — OMIA Phene_Article / Article - 1992. Reduced Levels of Neuronal-Specific Microtubule-Associated Protein (MAP2) in Canine G(M1)-Gangliosidosis. Neuroscience Research Communications — OMIA Phene_Article / Article - 1992. Dysmyelinogenesis in Animal Model of GM1 Gangliosidosis. Pediatric Neurology — PubMed:PMID1388413 — OMIA Phene_Article / Article - 1995. Retarded bone formation in G(M1)-gangliosidosis: A study of the infantile form and comparison with two canine models. Virchows Archiv - an International Journal of Pathology — PubMed:PMID7757284 — OMIA Phene_Article / Article - 1998. Biochemical findings in a breeding colony of Alaskan huskies suffering from GM(1)-gangliosidosis. Journal of Inherited Metabolic Disease — PubMed:PMID9700604 — OMIA Phene_Article / Article - 2000. GM1 gangliosidosis in shiba dogs. Veterinary Record — PubMed:PMID10887996 — OMIA Phene_Article / Article - 2000. G(M1)-gangliosidosis in a cross-bred dog confirmed by detection of G(M1)-ganglioside using electrospray ionisation-tandem mass spectrometry. Acta Neuropathologica — PubMed:PMID10985700 — OMIA Phene_Article / Article - 2000. Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis — PubMed:PMID11032334 | DOI:10.1023/a:1005630013448 — OMIA Phene_Article / Article - 2002. A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs. Journal of Inherited Metabolic Disease — PubMed:PMID12555949 — OMIA Phene_Article / Article - 2003. Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis. Journal of Veterinary Medical Science — PubMed:PMID12655116 — OMIA Phene_Article / Article - 2004. Rapid and simple mutation screening of G(M1) gangliosidosis in Shiba dogs by direct amplification of deoxyribonucleic acid from various forms of canine whole-blood specimens. J Vet Diagn Invest — PubMed:PMID15460336 — OMIA Phene_Article / Article - (32 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:230500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:230650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:230600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:253010 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611458 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [70]

Alaskan Husky — Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation; (hereditary; OMIA-verified breed predisposition)

Disorder: Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation; [71]

Clin feat: In Alaskan Huskies neurological signs start at 4 to 5 months of age with visual problems. Slightly later affected dogs display an altered voice due to laryngeal paralysis, regurgitation, and gait abnormalities progressing to a severe ataxia. Dogs are typically euthanized between 8 and 16 months of age. Affected dogs have bilateral microphthalmia, small pupils, and lenses with cataract. Some affected dogs additionally exhibit strabismus and/or persistent pupillary membranes (Wiedmer et al. 2015). The Black Russian Terriers presented slightly earlier than the Alaskan Huskies at 3 months of age with laryngeal paralysis and respiratory distress. They were all euthanized by 6 months of age for severe dyspnea (Mhlanga-Mutangadura et al. 2016 (Neurobiol. Dis.) and Dennis O'Brien, personal communication). [71]

Pathology: Neuropathological examinations in affected Alaskan Huskies showed bilaterally symmetrical chronic Wallerian-type axonal degeneration in the spinal cord, which was characterized by dilated myelin sheaths containing either axonal spheroids and fragments or myelinophages. Lesions were most prominent in the superficial dorsolateral white matter tracts of the cervical and thoracic segments, where they consisted of areas of axonal and myelin loss replaced by gliotic tissue. Additionally, widely spread, bilateral-symmetrical, subtle to severe neuronal vacuolation was present in the spinal cord grey matter, facial nucleus, gracile and cuneate nuclei, vestibular nuclei, cerebellar nuclei, oculomotor nuclei, substantia nigra, thalamic nuclei, hypothalamus, hippocampus and cortex. The vacuolation was characterized by the presence of one to multiple clearly defined vacuoles of varying size in the neuronal somata and was prominent in the cerebellar nuclei. Vacuoles were also observed in the surrounding neuropil, which contained scattered axonal spheroids and was gliotic. In the cerebellar cortex, mild to severe Purkinje cell degeneration and loss were observed, associated with cerebellar atrophy in one case. Scattered axonal spheroids were present in the granule cell layer. Mild vacuolation and scattered fragmented axons were observed in the white matter of the cerebellum and brainstem. Pathological prion protein deposition was absent. In muscle and peripheral nerve biopsies from affected Alaskan Huskies, a mild variability in myofiber size with scattered atrophic fibers having an angular to anguloid shape and of both fiber types was observed. Multifocal areas of type 1 fiber grouping were observed in one of three investigated dogs. Intramuscular nerve branches were mildly to moderately depleted of myelinated fibers. Large fiber loss was evident in the peroneal and vagus nerves resulting from axonal degeneration in two of three investigated dogs. Regenerative changes were not obvious, and the vagosympathetic nerve did not reveal any specific abnormalities (Wiedmer et al. 2015). The pathological alterations in POANV affected Black Russian Terriers were similar to those seen in Alaskan Huskies. Mhlanga-Mutangadura et al. (2016; Neurobiol. Dis.) additionally found vacuoles within axons in the peripheral nerves. In electron microscopy, Mhlanga-Mutangadura et al. (2016; Neurobiol. Dis.) showed that the vacuoles were membrane bound and contained scant fibrillary debris and occasional an electron dense core of material. They did not stain with oil red O which ruled out lipid droplets. In the Purkinje cells, there were numerous small vacuoles. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244679 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Wiedmer et al. (2015) performed whole genome sequencing of a POANV affected Alaskan Husky. An initial automated small-scale variant analysis of the sequence data did not reveal a plausible candidate variant. Wiedmer et al. then visually inspected the short read alignments of the affected Alaskan Husky in the critical interval on chromosome 19 and identified a 218 bp SINE insertion into exon 7 of t… Evidence (references) - 1997. Neuronal vacuolation and spinocerebellar degeneration in young rottweiler dogs. Veterinary Pathology — PubMed:PMID9240838 — OMIA Phene_Article / Article - 1998. A neuronal vacuolar disorder in young rottweiler dogs. Veterinary Record — PubMed:PMID9549867 — OMIA Phene_Article / Article - 1998. Neuronal vacuolation in young Rottweilers. Veterinary Record — OMIA Phene_Article / Article - 2011. Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J — PubMed:PMID20638305 | DOI:10.1016/j.tvjl.2010.06.003 — OMIA Phene_Article / Article - 1998. The laryngeal lesion in young dogs with neuronal vacuolation and spinocerebellar degeneration. Vet Pathol — PubMed:PMID9684979 | DOI:10.1177/030098589803500414 — OMIA Phene_Article / Article - 1998. Progressive tetraparesis and laryngeal paralysis in a young rottweiler with neuronal vacuolation and axonal degeneration: an Australian case. Aust Vet J — PubMed:PMID9862062 | DOI:10.1111/j.1751-0813.1998.tb12301.x — OMIA Phene_Article / Article - 1999. Neuronal vacuolation in young Rottweiler dogs. Acta Neuropathol — PubMed:PMID9928831 | DOI:10.1007/s004010050973 — OMIA Phene_Article / Article - 2015. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). G3 (Bethesda) — PubMed:PMID26596647 | DOI:10.1534/g3.115.022707 — OMIA Phene_Article / Article - 2016. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis — PubMed:PMID26607784 | DOI:10.1016/j.nbd.2015.11.016 — OMIA Phene_Article / Article - 2016. A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration. J Vet Intern Med — PubMed:PMID26968732 | DOI:10.1111/jvim.13921 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article - (1 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:600118 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602536 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [71]

Alaskan Klee Kai — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Alaskan Klee Kai (Dog) [61]

Alaskan Malamute — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Alaskan Malamute (Dog) [68]

Alaskan Malamute — Ciliary dyskinesia, primary, NME5-related (hereditary; OMIA-verified breed predisposition)

Summary: Several types of primary ciliary dyskinesia exist. See also 'OMIA001540-9615: Ciliary dyskinesia, primary, CCDC39-related in Canis lupus familiaris' and 'OMIA000573-9615: Ciliary dyskinesia, primary, generic in Canis lupus familiaris'. [72]

Clin feat: Anderegg et al. (2019): severe bronchial lung pattern and bronchiectasis on thoracic radiographs in both dogs... Direct rhinoscopy and bronchoscopy revealed hyperemic mucosa, medium to large amount of mucopurulent secretions along the upper and lower airway tracts and moderate to severe turbinate lysis in the nasal cavity in both dogs... Bronchoalveolar lavage fluid was compatible with chronic active purulent bronchopneumonia. [72]

Pathology: Electron microscopy of cilia from nasal epithelium revelaed alterations at the inner and outer dynein arms of motile cilia. Inner dynein arms were shortened or absent in 95% - 100% of the investigated cilia, outer dynein arms were shortend or absent in 60% - 80% of cilia. In normal cilia, there is a 9 + 2 arrangement of microtubules with two single microtubules in the center and nine pairs of peripheral microtubules. In an affected dog, extra peripheral microtubule singlets appeared occasionally (Anderegg et al. 2019). [72]

Prevalence: Anderegg et al. (2019): The mutant allele was not present in more than 1000 control dogs from different breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388305257 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Anderegg et al. (2019): "Whole genome sequencing of one [Alaskan Malamute] case and comparison to 601 control genomes identified a disease associated frameshift variant, c.43delA, in the NME5 gene encoding a sparsely characterized protein associated with ciliary function. . . . The genotypes at NME5:c.43delA showed the expected co-segregation with the phenotype in the Alaskan Malamute family. An… Evidence (references) - 2019. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet — PubMed:PMID31479451 | DOI:10.1371/journal.pgen.1008378 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:603575 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [72]

Alaskan Malamute — Polyneuropathy, NDRG1-related (hereditary; OMIA-verified breed predisposition)

Summary: The polyneuropathy of juvenile Greyhounds shows clinical similarities to the genetically heterogeneous Charcot-Marie-Tooth disease in humans. [73]

Clin feat: In Greyhounds, this polyneuropathy becomes evident in juvenile dogs between the ages of three and nine months (Drögemüller et al., 2010). Early clinical features include exercise intolerance (e.g. shaking and collapse after exercise), abnormal gait (e.g. bunny hopping and high stepping), while ataxia, dysphonia and severe muscle atrophy were associated with later clinical features (Drögemüller et al., 2010). Neurological examination may reveal progressive lower motor neuron signs, including progressive ataxia and tetraparesis, delayed proprioceptive paw positioning, distal limb muscle atrophy, hyporeflexia, and inspiratory stridor (high pitched noise during inspiration) (Drögemüller et al., 2010). [73]

Pathology: In Greyhounds, a mild to marked decrease in the density of myelinated nerve fibres can be observed. A proportion of the remaining nerve fibres may show a “marked to severe loss of circularity due to para- and internodal crenation” and “outfolded myelin loops at paranodes” (Drögemüller et al., 2010). In approximately 10% of the large, myelinated fibres a mild to marked hyperplasia of axon-Schwann cell network can be seen (Drögemüller et al., 2010). Signs of chronic denervation may be present, including neurogenic atrophy present within some skeletal muscles, de-myelination of fibres within intramuscular nerve branches, as well as perimysial lipid accumulation (Drögemüller et al., 2010). A study of affected Alaskan Malamutes found that these dogs demonstrated more than a 70% reduction in expression of the NDRG1 protein. This suggests that affected animals produce insufficient NDRG1 protein levels for the maintenance of the myelin of Schwann cells, thus resulting in this progressive degenerative polyneuropathy (Skedsmo et al., 2021). [73]

Prevalence: By genotyping archived samples, Jäderlund et al. (2017) showed that historical and recent phenotypic polyneuropathy cases were carrying the same NDRG1-mutation [c.293GT; p.Gly98Val]. The pedigree analysis showed that all affected Alaskan malamute cases with polyneuropathy could be traced back to one common ancestor of North American origin. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26587068 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1997. Idiopathic polyneuropathy in Alaskan Malamutes. J Vet Intern Med — PubMed:PMID9298480 | DOI:10.1111/j.1939-1676.1997.tb00098.x — OMIA Phene_Article / Article - 2010. A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy. PLoS One — PubMed:PMID20582309 | DOI:10.1371/journal.pone.0011258 — OMIA Phene_Article / Article - 2009. Hereditary encephalomyelopathy and polyneuropathy in an Alaskan husky. J Small Anim Pract — PubMed:PMID19954445 | DOI:10.1111/j.1748-5827.2009.00857.x — OMIA Phene_Article / Article - 2012. Hereditary polyneuropathy in the Alaskan Malamute. Tierarztl Prax Ausg K Kleintiere Heimtiere — PubMed:PMID22331326 — OMIA Phene_Article / Article - 2013. A Gly98Val mutation in the N-Myc Downstream Regulated Gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy. PLoS One — PubMed:PMID23393557 | DOI:10.1371/journal.pone.0054547 — OMIA Phene_Article / Article - 2017. Re-emergence of hereditary polyneuropathy in Scandinavian Alaskan malamute dogs-old enemy or new entity? A case series. Acta Vet Scand — PubMed:PMID28464941 | DOI:10.1186/s13028-017-0295-y — OMIA Phene_Article / Article - 2021. Impaired NDRG1 functions in Schwann cells cause demyelinating neuropathy in a dog model of Charcot-Marie-Tooth type 4D. Neuromuscul Disord — PubMed:PMID33334662 | DOI:10.1016/j.nmd.2020.11.010 — OMIA Phene_Article / Article - 2022. Tongue atrophy as a neurological finding in hereditary polyneuropathy in Alaskan malamutes. J Vet Intern Med — PubMed:PMID35019187 | DOI:10.1111/jvim.16351 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601455 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605262 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [73]

Alpine Dachsbracke — Ataxia, spinocerebellar, SCN8A-related (hereditary; OMIA-verified breed predisposition)

Breed: Alpine Dachsbracke (Dog) [74]

Clin feat: Letko et al. (2019): Clinical signs of cerebellar dysfunction in the four puppies (one male, three females) were observed immediately when their normal littermates started to move in a coordinated fashion, so after approximately three weeks of age. The affected dogs exhibited ataxia, tremors, loss of balance, falling and other movement problems.... Furthermore, the dog breeder reported that the vision of the affected dogs might be impaired. The severity of the clinical signs resulted in euthanasia of all cases by the age of 10–12 weeks. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388245796 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: letko et al. (2019): "Private whole-genome sequence variants of one ataxia case against 600 unrelated controls revealed one protein-changing variant within the critical interval in the SCN8A gene (c.4898G>T; p.Gly1633Val). Perfect segregation with the phenotype was confirmed by genotyping >200 Alpine Dachsbracke dogs. SCN8A encodes a voltage-gated sodium channel and the missense variant was predic… Evidence (references) - 2019. A missense variant in SCN8A in Alpine Dachsbracke dogs affected by spinocerebellar ataxia. Genes (Basel) — PubMed:PMID31083464 | DOI:10.3390/genes10050362 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:614306 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614558 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617080 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618364 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600702 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [74]

Alpine Dachsbracke — Neuronal ceroid lipofuscinosis, 8 (hereditary; OMIA-verified breed predisposition)

Clin feat: Koppang (1992) and Guo et al. (2014) describe the disease in English Setter and Australian Shepherd dogs: From birth to 12-14 months of age, the dog presents as healthy. At 14-18 months, visual impairment and behavioural changes indicative of neurological degeneration, such as decreased responsiveness to voice commands and compulsive circling, develop. These symptoms worsen, leading to blindness, ataxia and eventual loss of motor function in the limbs. Seizures develop at 17-24 months, becoming more frequent and severe until death or euthanasia of the animal which usually occurs before the age of 27 months. [75]

Pathology: Koppang (1992) and Guo et al. (2014) describe the disease in English Setter and Australian Shepherd dogs: Gross pathology as well as MRI examination of the brain identifies diffuse brain atrophy and ventriculomegaly, which progresses alongside clinical signs. Histopathology identifies the accumulation of autofluorescent lysosomal storage material in neural tissue, which is pathognomonic for NCL. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 488558 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: In one of the early uses of the initial canine genome assembly, Katz et al. (2005) conducted megablast searches of the canine genome with all eight then-known human genes for ceroid lipofuscinosos. One of these (CLN8) was shown to be located on CFA37, near to the mapped location of this disorder (see Mapping section above). Sequencing of the canine CLN8 gene in affected English Setters revealed th… Evidence (references) - 1975. Electroretinograms in English Setters with neuronal ceroid lipofuscinosis. Investigative Ophthalmology and Visual Science — OMIA Phene_Article / Article - 1990. Battens disease - Failure of allogeneic bone marrow transplantation to arrest disease progression in a canine model. Clin Genet — PubMed:PMID2350897 | DOI:10.1111/j.1399-0004.1990.tb04188.x — OMIA Phene_Article / Article - 1992. English Setter model and juvenile ceroid-lipofuscinosis in man. American Journal of Medical Genetics — PubMed:PMID1609842 | DOI:10.1002/ajmg.1320420434 — OMIA Phene_Article / Article - 1992. Retina in various animal models of neuronal ceroid-lipofuscinosis. Am J Med Genet — PubMed:PMID1609843 | DOI:10.1002/ajmg.1320420435 — OMIA Phene_Article / Article - 1994. Lysine methylation of mitochondrial ATP synthase subunit-c stored in tissues of dogs with hereditary ceroid lipofuscinosis. J Biol Chem — PubMed:PMID8144584 — OMIA Phene_Article / Article - 1994. Growth factor-induced neurite growth in primary neuronal cultures of dogs with neuronal ceroid lipofuscinosis. Int J Dev Neurosci — PubMed:PMID7942092 | DOI:10.1016/0736-5748(94)90040-x — OMIA Phene_Article / Article - 1995. Canine hereditary ceroid-lipofuscinosis: Evidence for a defect in the carnitine biosynthetic pathway. American Journal of Medical Genetics — PubMed:PMID7668343 | DOI:10.1002/ajmg.1320570231 — OMIA Phene_Article / Article - 1995. Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis. American Journal of Medical Genetics — PubMed:PMID7668347 | DOI:10.1002/ajmg.1320570235 — OMIA Phene_Article / Article - 1995. Early detection of canine ceroid-lipofuscinosis (CCL): An ultrastructural study. American Journal of Medical Genetics — PubMed:PMID7668340 | DOI:10.1002/ajmg.1320570228 — OMIA Phene_Article / Article - 1998. Coding sequence and exon/intron organization of the canine CLN3 (Batten-disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English Setter dogs. Journal of Neuroscience Research — PubMed:PMID9590435 — OMIA Phene_Article / Article - 1998. Altered mitochondrial function in canine ceroid-lipofuscinosis. Neurochemical Research — PubMed:PMID9690741 — OMIA Phene_Article / Article - 1998. Genetic markers linked to neuronal ceroid lipofuscinosis in English Setter dogs. Animal Genetics — PubMed:PMID9800325 — OMIA Phene_Article / Article - (26 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:600143 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607837 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [75]

American Akita — Amelogenesis imperfecta, ACP4-related (hereditary; OMIA-verified breed predisposition)

Breed: American Akita (Dog) [64]

American Bulldog — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)

Breed: American Bulldog (Dog) [76]

Disorder: Canine multifocal retinopathy [76]

Summary: Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The detection of three different mutations in the one gene (BEST1) has led to the naming of three different forms of the disorder (cmr1 [OMIA:001444-9615], cmr2 [OMIA:001553-9615], cmr3 [OMIA:001554-9615]), all of which are very similar clinically. The form of cmr detailed in this entry (cmr1) occurs in several breeds (listed below). [76]

Clin feat: Signs of cmr1 develop around 13 weeks of age, and include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina. They progress as the animal ages to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998). [76]

Pathology: In retinal histology there are multiple areas of retinal pigment epithelial vacuolation, hypertrophy, apparent separation from Bruch’s membrane, and multiple serous retinal detachments (Grahn et al., 1998). [76]

American Bulldog — Myotonia (hereditary; OMIA-verified breed predisposition)

Summary: Myotonia is a chloride channel disorder characterized by delayed skeletal muscle relaxation after contraction. Predominant signs include a stiff gait and skeletal muscle hypertrophy. Genetic tests are available for the miniature schnauzer and Australian cattle dog. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [77]

Clin feat: Signs in miniature schnauzers include a stiff gait most pronounced at the onset of movement and during rapid changes in posture (turning quickly, falling), which may diminish with exercise. Other signs include severe skeletal muscle hypertrophy, difficulty rising, increased respiratory sounds, difficulty swallowing, and ptyalism beginning around 2 to 3 months of age. Associated superior prognathism may be a closely segregating trait (Gracis et al., 2000). Signs in the Australian cattle dog are similar, including skeletal muscle hypertrophy and generalized stiffness (Finnigan et al., 2007). Two French bulldogs reported by Shelton et al. (2024) presented with muscle hypertrophy, swallowing disorders, and gait abnormalities. [77]

Pathology: In affected dogs, skeletal muscle voltage-dependent chloride channels are unable to fully open at voltages near the resting membrane potential. There is a resultant delay in skeletal muscle relaxation after termination of the action potential, as depolarization is maintained longer than normal. Spontaneous triggering of action potentials independent of neuromuscular signaling induces frequent contraction and muscle hypertrophy (Rhodes et al., 1999). [77]

Prevalence: Of 372 Miniature schnauzers tested from the US, Canada, Europe and Australia, 78.5% were normal, 20.4% were carriers, and 1.1% were affected. All affected dogs initially identified had a common ancestor (Bhalerao et al., 2002). [77]

Control: Siblings of affected dogs and relatives of their parents should be tested. Breeding of affected dogs or carriers is discouraged. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403723 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in himans, goats and mice), Rhodes et al. (1999) identified a causative variant [omia.variant:62]in the miniature schnauzer as a C to T substitution that changes the amino acid from threonine to methionine [p.T268M] in the CLCN1 gene, which encodes the skeletal muscle voltage-dependent chl… Evidence (references) - 1981. Hereditary myotonia in the Chow Chow. Journal of Small Animal Practice — PubMed:PMID7289589 | DOI:DOI: 10.1111/j.1748-5827.1981.tb00629.x — OMIA Phene_Article / Article - 1974. Three cases of myotonia in a family of Chows. Tijdschrift voor Diergeneeskunde — PubMed:PMID4536400 — OMIA Phene_Article / Article - 1995. Myotonia in a cocker spaniel. Journal of the American Animal Hospital Association — PubMed:PMID8581546 — OMIA Phene_Article / Article - 1998. Possible adult onset myotonic dystrophy in a boxer. Journal of Veterinary Internal Medicine — PubMed:PMID9560770 — OMIA Phene_Article / Article - 1998. Myotonia associated with hyperadrenocorticism in two dogs. Australian Veterinary Journal — PubMed:PMID9862060 — OMIA Phene_Article / Article - 1999. A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog. FEBS Lett — PubMed:PMID10452529 | DOI:10.1016/s0014-5793(99)00926-6 — OMIA Phene_Article / Article - 1999. Congenital myotonic myopathy in the miniature schnauzer: An autosomal recessive trait. J Hered — PubMed:PMID10544501 | DOI:10.1093/jhered/90.5.578 — OMIA Phene_Article / Article - 2002. Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor. American Journal of Veterinary Research — PubMed:PMID12371774 — OMIA Phene_Article / Article - 2003. Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor (vol 63, pg 1443, 2002). American Journal of Veterinary Research — OMIA Phene_Article / Article - 2007. A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog. J Vet Intern Med — PubMed:PMID17552451 — OMIA Phene_Article / Article - 2009. Myotonia congenita in a Jack Russell terrier. J S Afr Vet Assoc — PubMed:PMID19831273 — OMIA Phene_Article / Article - 2000. Dental and craniofacial findings in eight miniature schnauzer dogs affected by myotonia congenita: preliminary results. J Vet Dent — PubMed:PMID11968937 — OMIA Phene_Article / Article - (18 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:160800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:255700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:118425 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [77]

American Bulldog — Nemaline myopathy, NEB-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Evans et al. (2016): Affected dogs could independently ambulate, had generalized atrophy, and the myopathy was relatively non-progressive (Supplemental video). Atrophy of the cervical and dorsal thoracic limb muscles was noted with bilateral hypertrophy of the triceps muscles. Serum creatine kinase (CK) activities were mildly elevated. Electromyography (EMG) revealed spontaneous electrical activity, consisting mainly of fibrillation potentials, within the proximal appendicular muscles of the thoracic limbs and the cervical paraspinal musculature. Motor nerve conduction velocity (MNCV) testing showed a mild decrease in the latency of the tibial and ulnar nerves. Respiratory difficulties were not present. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244698 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Evans et al. (2016) reported a likely causal variant, namely "a nonsense mutation in NEB (g.52734272 C>A, S8042X) . . . The pathogenic variant was absent from 120 dogs of 24 other breeds and 100 unrelated ABDs, suggesting that it occurred recently and may be private to the family". Evidence (references) - 2016. Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. Mamm Genome — PubMed:PMID27215641 | DOI:10.1007/s00335-016-9644-9 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:256030 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:161650 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [78]

American Bulldog — Neuronal ceroid lipofuscinosis, 10 (hereditary; OMIA-verified breed predisposition)

Summary: The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. Onset is usually before 2 years of age, with death by 7 years of age. Unlike other forms of NCL, dogs with NCL10 do not show signs of cerebral dysfunction or blindness. A genetic test is available. [79]

Clin feat: Onset of signs is usually before 2 years of age and includes hypermetria, dysmetria, paraparesis, ataxia, and progressive psychomotor degeneration. Signs progress slowly, with death by 7 years of age (Awano et al., 2006).Unlike many other NCLs, American bulldogs with NCL10 do not show signs of cerebral dysfunction or blindness (Evans et al, 2005). [79]

Pathology: Cytoplasmic autofluorescent storage material is present in neurons of the cerebrum, cerebellum, and retina. The most concentrated areas of neuronal cytoplasmic inclusion material is in the gracilic, medial, and lateral cuneate nuclei. Axonal spheroids indicative of neuroaxonal dystrophy are present in the thalamus, caudal medulla, and spinal cord grey matter. Muscle and nerve biopsies have changes consistent with mild denervation (Evans et al., 2005). In the retina, inclusions appear in photoreceptor cells, mostly in cones, in the outer limiting membrane next to the outermost layer of photoreceptor nuclei (Awano et al., 2006). [79]

Prevalence: Allelic frequency was 28% in the American bulldog population studied to identify the causative mutation (Awano et al., 2006). [79]

Control: Relatives of affected dogs should be tested. Avoid breeding affected or carrier dogs. [79]

Gen test: A genetic test is available. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 483662 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2005. A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med — PubMed:PMID15715047 — OMIA Phene_Article / Article - 2006. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab — PubMed:PMID16386934 | DOI:10.1016/j.ymgme.2005.11.005 — OMIA Phene_Article / Article - 2005. The canine CTSD gene as a candidate for late-onset neuronal ceroid lipofuscinosis. Anim Genet — PubMed:PMID16293139 | DOI:10.1111/j.1365-2052.2005.01375.x — OMIA Phene_Article / Article - 2013. Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta — PubMed:PMID23338040 | DOI:10.1016/j.bbadis.2013.01.009 — OMIA Phene_Article / Article - 2017. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis — PubMed:PMID28860089 | DOI:10.1016/j.nbd.2017.08.017 — OMIA Phene_Article / Article - 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article - 2021. International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med — PubMed:PMID33769611 | DOI:10.1111/jvim.16108 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610127 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:116840 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [79]

American Bulldog — Robinow-like syndrome; curly tail (hereditary; OMIA-verified breed predisposition)

Disorder: Robinow-like syndrome; curly tail [80]

Clin feat: Mansour et al. (2018): One group of three breeds (Bulldog, French Bulldog and Boston Terrier) is characterized by a wide head, short muzzle, widely spaced eyes, small size and abnormalities of the vertebral bones of the back and tail. These breeds are referred to as the screw tail breeds since the characteristic that is unique and easy to see in these breeds is their shortened and kinked tails. Niskanen et al. (2021): The DVL2 variant segregates in a recessive manner with caudal vertebral malformations and has incomplete and variable penetrance for thoracic vertebral malformations (Mansour et al. 2018).. With CT examinations in American Staffordshire Terriers, we confirmed that the DVL2 allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects. [80]

Prevalence: Mansour et al. (2018): This DVL2 variant was fixed in Bulldogs and French Bulldogs and had a high allele frequency (0.94) in Boston Terriers. These same authors also reported that To confirm the association of the DVL2c.2044delC mutation with the screw tail phenotype, 667 dogs, from 49 breeds, were genotyped for the DVL2 mutation.... 177 dogs were from the screw tail breeds including 33 Bulldogs, 79 French Bulldogs and 65 Boston Terriers. All were homozygous for the mutant allele except 6 of the Boston Terriers (4 heterozygous, 2 wildtype). In addition, we identified dogs from several other breeds, including Pit bulls, Staffordshire Bull Terrier, Shih Tzu and mixed breeds, that are heterozygous or homozygous for the DLV2 mutation. The Pug breed has sometimes been classified with the screw tail breeds due to its curled tail; however, the tail is full length and does not have caudal vertebral malformations.... 29 Pugs tested were wild-type for the DVL2 mutation. Likewise, the Pug dogs do not share the high MAF with the screw tail breeds around the DVL2 mutation.... Three hundred and eighty five dogs from 43 other breeds were also tested and were all wild-type. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388254162 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Mansour et al. (2018) " identified a frameshift mutation in the WNT pathway gene DISHEVELLED 2 (DVL2) ... as the most strongly associated [with screw tail] variant in the canine genome ... . DVL2 cDNA was sequenced from the skeletal muscle of a dog with a normal tail and a screw tail Bulldog ... to confirm the presence of the mutation in the mRNA in the Bulldog sample (DVL2c.2044delC). ... This de… Evidence (references) - 2008. Single-nucleotide-polymorphism-based association mapping of dog stereotypes. Genetics — PubMed:PMID18505865 | DOI:10.1534/genetics.108.087866 — OMIA Phene_Article / Article - 2012. Variation of BMP3 contributes to dog breed skull diversity. PLoS Genet — PubMed:PMID22876193 | DOI:10.1371/journal.pgen.1002849 — OMIA Phene_Article / Article - 2011. Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet — PubMed:PMID22022279 | DOI:10.1371/journal.pgen.1002316 — OMIA Phene_Article / Article - 2018. Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. PLoS Genet — PubMed:PMID30521570 | DOI:10.1371/journal.pgen.1007850 — OMIA Phene_Article / Article - 2014. A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds. Vet Radiol Ultrasound — PubMed:PMID24833506 | DOI:10.1111/vru.12172 — OMIA Phene_Article / Article - 2014. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation. PLoS One — PubMed:PMID25198374 | DOI:10.1371/journal.pone.0106957 — OMIA Phene_Article / Article - 2021. Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Hum Genet — PubMed:PMID33599851 | DOI:10.1007/s00439-021-02261-8 — OMIA Phene_Article / Article - 2019. Congenital malformations of the lumbosacral vertebral column are common in neurologically normal French Bulldogs, English Bulldogs, and Pugs, with breed-specific differences. Vet Radiol Ultrasound — PubMed:PMID31050057 | DOI:10.1111/vru.12753 — OMIA Phene_Article / Article - 2024. The most common congenital malformations in dogs: Literature review and practical guide. Res Vet Sci — PubMed:PMID38492280 | DOI:10.1016/j.rvsc.2024.105230 — OMIA Phene_Article / Article - 2024. Prevalence, clinical presentation, and etiology of myelopathies in 224 juvenile dogs. J Vet Intern Med — PubMed:PMID38483074 | DOI:10.1111/jvim.17045 — OMIA Phene_Article / Article - 2018. Surgical management of screw-tail in dogs. Companion Animal — DOI:10.12968/coan.2018.23.5.287 — OMIA Phene_Article / Article - 2021. Thoracic vertebral canal stenosis associated with vertebral arch anomalies in small brachycephalic screw-tail dog breeds. Vet Comp Orthop Traumatol — PubMed:PMID33285597 | DOI:10.1055/s-0040-1721375 — OMIA Phene_Article / Article - (3 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:602151 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [80]

American Bulldog — autosomal recessive congenital ichthyosis (hereditary; OMIA-verified breed predisposition)

Disorder: autosomal recessive congenital ichthyosis [81]

Clin feat: The gross phenotype was manifest as a disheveled pelage shortly after birth, generalized scaling, and adherent brown scale with erythema of the abdominal skin (Mauldin et al. 2015). [81]

Pathology: Affected dogs exhibited diffuse laminated to compact orthokeratotic hyperkeratosis with hypergranulosis and mild acanthosis. The epidermis had a prominent granular layer, and multifocal granular layer keratinocytes displayed a perinuclear clear space. Malassezia could be found within the corneal layer in at least one sample in approximately 60% of cases. The yeast were typically present without an inflammatory response. Ultrastructurally, the epidermis showed discontinuous lipid bilayers, unprocessed lipid within corneocytes, and abnormal lamellar bodies (Mauldin et al. 2015). [81]

Prevalence: As reported by Casal et al. (2017), Obligate carriers were confirmed to be heterozygous for this variant, and 150 clinically non-affected dogs of other breeds were homozygous for the wild-type gene. Among 800 American bulldogs tested, 34% of clinically healthy dogs were discovered to be heterozygous for the defective allele. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253928 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2013. Canine ichthyosis and related disorders of cornification. Vet Clin North Am Small Anim Pract — PubMed:PMID23182326 | DOI:10.1016/j.cvsm.2012.09.005 — OMIA Phene_Article / Article - 2015. Autosomal recessive congenital ichthyosis in American bulldogs is associated with NIPAL4 (ICHTHYIN) deficiency. Vet Pathol — PubMed:PMID25322746 | DOI:10.1177/0300985814551425 — OMIA Phene_Article / Article - 2017. A defect in NIPAL4 is associated with autosomal recessive congenital ichthyosis in American bulldogs. PLoS One — PubMed:PMID28122049 | DOI:10.1371/journal.pone.0170708 — OMIA Phene_Article / Article - 2019. NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. Vet Med Sci — PubMed:PMID30741495 | DOI:10.1002/vms3.149 — OMIA Phene_Article / Article - 2021. Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol — PubMed:PMID34796560 | DOI:10.1111/vde.13033 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:612281 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609383 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [81]

American Bully — autosomal recessive congenital ichthyosis (hereditary; OMIA-verified breed predisposition)

Breed: American Bully (Dog) [81]

American Cocker Spaniel — Glaucoma, primary closed-angle (hereditary; OMIA-verified breed predisposition)

Breed: American Cocker Spaniel (Dog) [82]

Summary: This disorder in Dandie Dinmont Terriers was first described by Ahonen et al. (2013). Several studies investigated the condition in Basset Hounds (Ahram et al.,2014, 2015; Oliver et al., 2019). Park et al. (2022) reported that the American Cocker Spaniel (ACS) is among the most common breeds observed with PACG [primary angle closure glaucoma] development in dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244698 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Ahram et al. (2015) reported a potentially pathogenic missense mutation in the nebulin gene (NEB) (g.5588214 A->G in exon 48; p.2051 Lys->Arg), which is located in their candidate region of CFA19q, as being strongly (but not completely) associated with the disorder in Basset Hounds. Evidence (references) - 2013. Genome-wide association study identifies a novel canine glaucoma locus. PLoS One — PubMed:PMID23951034 | DOI:10.1371/journal.pone.0070903 — OMIA Phene_Article / Article - 2015. Progression of pectinate ligament dysplasia over time in two populations of Flat-Coated Retrievers. Vet Ophthalmol — PubMed:PMID24025050 | DOI:10.1111/vop.12098 — OMIA Phene_Article / Article - 2015. Variants in nebulin (NEB) are linked to the development of familial primary angle closure glaucoma in Basset Hounds. PLoS One — PubMed:PMID25938837 | DOI:10.1371/journal.pone.0126660 — OMIA Phene_Article / Article - 2014. Identification of genetic loci associated with primary angle-closure glaucoma in the basset hound. Mol Vis — PubMed:PMID24791135 — OMIA Phene_Article / Article - 2015. Genetics of canine primary glaucomas. Vet Clin North Am Small Anim Pract — PubMed:PMID26277300 | DOI:10.1016/j.cvsm.2015.06.003 — OMIA Phene_Article / Article - 2015. Definition, classification, and pathophysiology of canine glaucoma. Vet Clin North Am Small Anim Pract — PubMed:PMID26456751 | DOI:10.1016/j.cvsm.2015.06.002 — OMIA Phene_Article / Article - 2017. Genetic and biochemical biomarkers in canine glaucoma. Vet Pathol — PubMed:PMID27681326 | DOI:10.1177/0300985816666611 — OMIA Phene_Article / Article - 2019. Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies. Mol Vis — PubMed:PMID30820145 — OMIA Phene_Article / Article - 2021. Proteomic analysis of aqueous humor in canine primary angle-closure glaucoma in American Cocker Spaniel dogs. Vet Ophthalmol — PubMed:PMID34558166 | DOI:10.1111/vop.12937 — OMIA Phene_Article / Article - 2021. Evaluation of matrix metalloproteinases and tissue inhibitors of metalloproteinases in aqueous humor of dogs with versus without naturally occurring primary angle-closure glaucoma. Am J Vet Res — PubMed:PMID34936570 | DOI:10.2460/ajvr.21.04.0062 — OMIA Phene_Article / Article - 2022. Ocular morphologic traits in the American Cocker Spaniel may confer primary angle closure glaucoma susceptibility. Sci Rep — PubMed:PMID36348026 | DOI:10.1038/s41598-022-23238-1 — OMIA Phene_Article / Article - 2015. Ocular Disorders Presumed to be Inherited in Purebred Dogs (“The Blue Book”), 8th edition — OMIA Phene_Article / Article - (4 additional references in OMIA) [82]

American Cocker Spaniel — Glaucoma, primary open angle (hereditary; OMIA-verified breed predisposition)

Summary: see also entries in OMIA relating to forms of this disease for which causal variants have been identified: e.g., OMIA:001870-9615: Glaucoma, primary open angle, ADAMTS10-related in Canis lupus familiaris; OMIA:001976-9615: Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2013. Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk.. PLoS One — PubMed:PMID24040232 | DOI:10.1371/journal.pone.0074372 — OMIA Phene_Article / Article - 2017. Genetic and biochemical biomarkers in canine glaucoma.. Vet Pathol — PubMed:PMID27681326 | DOI:10.1177/0300985816666611 — OMIA Phene_Article / Article - 2019. Primary angle-closure glaucoma with goniodysgenesis in a Beagle dog.. BMC Vet Res — PubMed:PMID30832652 | DOI:10.1186/s12917-019-1812-1 — OMIA Phene_Article / Article - 2022. A genome-wide association study to investigate genetic loci associated with primary glaucoma in American Cocker Spaniels.. Am J Vet Res — PubMed:PMID36170212 | DOI:10.2460/ajvr.22.07.0106 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2013. Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. PLoS One — PubMed:PMID24040232 | DOI:10.1371/journal.pone.0074372 — OMIA Phene_Article / Article - 2017. Genetic and biochemical biomarkers in canine glaucoma. Vet Pathol — PubMed:PMID27681326 | DOI:10.1177/0300985816666611 — OMIA Phene_Article / Article - 2019. Primary angle-closure glaucoma with goniodysgenesis in a Beagle dog. BMC Vet Res — PubMed:PMID30832652 | DOI:10.1186/s12917-019-1812-1 — OMIA Phene_Article / Article - 2022. A genome-wide association study to investigate genetic loci associated with primary glaucoma in American Cocker Spaniels. Am J Vet Res — PubMed:PMID36170212 | DOI:10.2460/ajvr.22.07.0106 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2013. Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. PLoS One — PubMed:PMID24040232 | DOI:10.1371/journal.pone.0074372 — OMIA Phene_Article / Article - 2017. Genetic and biochemical biomarkers in canine glaucoma. Vet Pathol — PubMed:PMID27681326 | DOI:10.1177/0300985816666611 — OMIA Phene_Article / Article - 2019. Primary angle-closure glaucoma with goniodysgenesis in a Beagle dog. BMC Vet Res — PubMed:PMID30832652 | DOI:10.1186/s12917-019-1812-1 — OMIA Phene_Article / Article - 2022. A genome-wide association study to investigate genetic loci associated with primary glaucoma in American Cocker Spaniels. Am J Vet Res — PubMed:PMID36170212 | DOI:10.2460/ajvr.22.07.0106 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2013. Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. PLoS One — PubMed:PMID24040232 | DOI:10.1371/journal.pone.0074372 — OMIA Phene_Article / Article - 2017. Genetic and biochemical biomarkers in canine glaucoma. Vet Pathol — PubMed:PMID27681326 | DOI:10.1177/0300985816666611 — OMIA Phene_Article / Article - 2019. Primary angle-closure glaucoma with goniodysgenesis in a Beagle dog. BMC Vet Res — PubMed:PMID30832652 | DOI:10.1186/s12917-019-1812-1 — OMIA Phene_Article / Article - 2022. A genome-wide association study to investigate genetic loci associated with primary glaucoma in American Cocker Spaniels. Am J Vet Res — PubMed:PMID36170212 | DOI:10.2460/ajvr.22.07.0106 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2013. Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. PLoS One — PubMed:PMID24040232 | DOI:10.1371/journal.pone.0074372 — OMIA Phene_Article / Article - 2017. Genetic and biochemical biomarkers in canine glaucoma. Vet Pathol — PubMed:PMID27681326 | DOI:10.1177/0300985816666611 — OMIA Phene_Article / Article - 2019. Primary angle-closure glaucoma with goniodysgenesis in a Beagle dog. BMC Vet Res — PubMed:PMID30832652 | DOI:10.1186/s12917-019-1812-1 — OMIA Phene_Article / Article - 2022. A genome-wide association study to investigate genetic loci associated with primary glaucoma in American Cocker Spaniels. Am J Vet Res — PubMed:PMID36170212 | DOI:10.2460/ajvr.22.07.0106 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article [83]

American Cocker Spaniel — Glycogen storage disease VII (hereditary; OMIA-verified breed predisposition)

Summary: Phosphofructokinase (PFK) deficiency is an inherited enzyme deficiency causing hemolytic crises and exertional myopathy. Genetic tests are available to detect causative mutations, which have beend identical in the English springer spaniel, American cocker spaniel, Whippet and Wachtelhund. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT and updated by IT [April 2022] [84]

Clin feat: Presenting signs include muscle cramps, exercise intolerance, and a mild increase in creatine kinase. Affected dogs can also present in hemolytic crisis with hemoglobinuria and bilirubinuria after excessive excitement, exercise, or hyperthermia. During a crisis, the dog can develop severe anemia, icterus, fever, lethargy, and anorexia. This anemia is regenerative, usually resolving within several days. Affected animals have a normal life span, usually maintaining a normal PCV but persistent bilirubinuria and reticulocytosis. Variable muscle wasting, hepatosplenomegaly, and increased total body iron stores have also been reported (Gerber et al., 2009). [84]

Pathology: PFK, a cytosolic enzyme in the anaerobic pathway, is composed of three subunits: muscle (M-PFK), liver (L-PFK), and platelet (P-PFK) types. These subunits are present in different proportions in different tissues. Affected dogs lack PFK in skeletal muscle, and have only 20% of normal PFK activity in erythrocytes, which is from L-PFK and P-PFK expression (Gerber et al., 2009). Their PFK-deficient erythrocytes have hemoglobin with high oxygen affinity that helps to compensate for transient but severe anemic episodes (Skibild et al., 2001). Hemolytic crises in affected dogs are precipitated by hyperventilation, hyperthermia, and associated alkalemia, which induce intravascular hemolysis (Skibild et al., 2001). [84]

Prevalence: Canine PFK deficiency has been reported in the USA, the UK, and Europe. Of 600 English Springer Spaniels screened in the USA, 14% were carriers and 6% were affected (Skibild, 2001). [84]

Control: Dogs of breeds or families in which the disease has been reported should be tested prior to pursuing athletic work such as field trials. [84]

Gen test: There is a PCR-based test available to detect the mutation in the English springer spaniel, American cocker spaniel and Whippet. A second mutation has been identified in Wachtelhund breed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: ATP-PFK (Entrez Gene ID 403849) — OMIA Phene_Gene / GeneSynonym Causal variant(s) - Variant: allele D; chromosome 8; pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1990. Polysaccharide Storage Myopathy in Canine Phosphofructokinase Deficiency (Type-VII Glycogen Storage Disease). Veterinary Pathology — PubMed:PMID2137952 — OMIA Phene_Article / Article - 1987. Hemolysis caused by phosphofructokinase deficiency in English Springer Spaniels: seven cases. Journal of the American Veterinary Medical Association — PubMed:PMID2958437 — OMIA Phene_Article / Article - 1987. Nonspherocytic haemolytic anaemia due to phosphofructokinase deficiency in an English Springer Spaniel. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1992. Developmental Changes of 6-Phosphofructo-1-Kinase Subunit Levels in Erythrocytes from Normal Dogs and Dogs Affected by Glycogen Storage Disease Type-VII. Comparative Biochemistry and Physiology B - Comparative Biochemistry — OMIA Phene_Article / Article - 1991. Presence of a Truncated M-Type Subunit and Altered Kinetic Properties of 6-Phosphofructo-1-Kinase Isozymes in the Brain of a Dog Affected by Glycogen Storage Disease Type-VII. Enzyme — PubMed:PMID1840037 — OMIA Phene_Article / Article - 1992. Inherited Phosphofructokinase Deficiency in an American Cocker Spaniel. Journal of the American Veterinary Medical Association — PubMed:PMID1289336 — OMIA Phene_Article / Article - 1994. Haematology and Clinical Chemistry of English Springer Spaniel Dogs with Phosphofructokinase Deficiency. Comparative Haematology International — OMIA Phene_Article / Article - 1994. Metabolic and work capacity of skeletal muscle of PFK- deficient dogs studied in situ. Journal of Applied Physiology — PubMed:PMID7868469 — OMIA Phene_Article / Article - 1996. Molecular basis of canine muscle type phosphofructokinase deficiency. Journal of Biological Chemistry — PubMed:PMID8702726 — OMIA Phene_Article / Article - 1999. In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructokinase deficiency. Muscle & Nerve — PubMed:PMID10331362 — OMIA Phene_Article / Article - 2001. Haemolytic anaemia and exercise intolerance due to phosphofructokinase deficiency in related springer spaniels. Journal of Small Animal Practice — PubMed:PMID11440399 — OMIA Phene_Article / Article - 1986. Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs. Anim Genet — PubMed:PMID2940948 — OMIA Phene_Article / Article - (10 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:232800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610681 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [84]

American Cocker Spaniel — Intervertebral disc disease; Hansen type I / acute intervertebral disc extrusion (hereditary; OMIA-verified breed predisposition)

Disorder: Intervertebral disc disease; Hansen type I / acute intervertebral disc extrusion [85]

Mode of inheritance: Autosomal dominant [85]

Summary: Two FGF4 retrogenes (FGF4L1 on chromosome 18 and FGF4L2 on chromosome 12) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers) (Bannasch et al., 2022) [85]

Clin feat: Batcher et al. (2019) concluded that The FGF4 retrogene on CFA12 acts in a dominant manner to decrease the age of onset and increase the overall risk of disc disease in dogs. Other modifiers of risk may be present within certain breeds, including the FGF4 retrogene on CFA18. In Nova Scotia Duck Tolling Retrievers, Murphy et al. (2019) concluded that dogs with the retrogene variant present with clinical signs consistent with premature chondroid degeneration of the intervertebral disc and suggest that the presence of the CFA12 FGF4 retrogene is sufficient to cause the chondrodystrophic phenotype. [85]

Control: Bruun et al. (2020) concluded that Our results show that the FGF4 retrogene insertion on CFA12 is not a valid risk indicator on its own. Relying on the DNA test will have an irreversible effect on the Dachshund breed excluding almost all dogs from breeding. Thus, using calcification status remains the most reliable breeding scheme for disc herniation in Dachshunds. Bannash et al. (2022) recommend that Selectively breeding dogs with FGF4L1 and without FGF4L2 would likely lead to a reduction in the FGF4L2-related risk of intervertebral disc herniation while maintaining the reduction in leg length resulting from FGF4L1. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298717 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Brown et al. (2017) reported that an FGF4 retrogene insertion in chromosome CFA12 (12: g.33710178_33710179insMF040221.1; CanFam3) is "responsible for type I IVDD . . . across dog breeds . . . the insertion on CFA12 is 3,209 bp long (GenBank accession no. MF040221) and includes parental FGF4 cDNA (i.e., FGF4 exons spliced without introns) . . . . The insert also contains a majority of the predicted… Evidence (references) - 1975. Morphological studies of the canine intervertebral disc: the assignment of the Beagle to the achondroplastic classification. Res Vet Sci — PubMed:PMID1166121 — OMIA Phene_Article / Article - 2000. Mechanical factors affecting the occurrence of intervertebral disc calcification in the dachshund--a population study. J Vet Med A Physiol Pathol Clin Med — PubMed:PMID10932525 — OMIA Phene_Article / Article - 2000. Inheritance of disc calcification in the dachshund. J Vet Med A Physiol Pathol Clin Med — PubMed:PMID11008442 — OMIA Phene_Article / Article - 2011. Genome-wide association study in dachshund: identification of a major locus affecting intervertebral disc calcification. J Hered — PubMed:PMID21846751 | DOI:10.1093/jhered/esr021 — OMIA Phene_Article / Article - 2001. Asymptomatic radiographic disappearance of calcified intervertebral disc material in the Dachshund. Vet Radiol Ultrasound — PubMed:PMID11327362 — OMIA Phene_Article / Article - 2013. Intervertebral disc disease in dogs - Part 1: A new histological grading scheme for classification of intervertebral disc degeneration in dogs. Vet J — PubMed:PMID22789628 | DOI:10.1016/j.tvjl.2012.05.027 — OMIA Phene_Article / Article - 2013. Intervertebral disc disease in dogs - Part 2: Comparison of clinical, magnetic resonance imaging, and histological findings in 74 surgically treated dogs. Vet J — PubMed:PMID22795604 | DOI:10.1016/j.tvjl.2012.06.001 — OMIA Phene_Article / Article - 2012. Validation of genome-wide intervertebral disk calcification associations in dachshund and further investigation of the chromosome 12 susceptibility locus. Front Genet — PubMed:PMID23125846 | DOI:10.3389/fgene.2012.00225 — OMIA Phene_Article / Article - 2013. Intervertebral disc degeneration in the dog. Part 2: Chondrodystrophic and non-chondrodystrophic breeds. Vet J — PubMed:PMID23154070 | DOI:10.1016/j.tvjl.2012.10.011 — OMIA Phene_Article / Article - 2013. Intervertebral disc degeneration in the dog. Part 1: Anatomy and physiology of the intervertebral disc and characteristics of intervertebral disc degeneration. Vet J — PubMed:PMID23177522 | DOI:10.1016/j.tvjl.2012.10.024 — OMIA Phene_Article / Article - 2013. Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc — PubMed:PMID23683021 | DOI:10.2460/javma.242.11.1549 — OMIA Phene_Article / Article - 2012. Analysis of cartilage oligomeric matrix protein and matrix metalloproteinase-9 in cerebrospinal fluid of miniature dachshund with intervertebral disc herniation. Res Vet Sci — PubMed:PMID22440362 | DOI:10.1016/j.rvsc.2012.02.014 — OMIA Phene_Article / Article - (71 additional references in OMIA) [85]

American Cocker Spaniel — Progressive rod-cone degeneration, PRCD-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Clinical features of the disease are a result of degeneration of the rods and cones in the eye (Spencer et al., 2016). Dogs are born with normal vision but in adolescence or early adulthood begin to show clinical signs (Miyadera, 2014). The disease typically manifests initially as a lack of coordination in dim light and night blindness (Miyadera, 2014). Affected dogs may also show an aversion to bright lights, difficulty navigating familiar areas and failure to focus on small objects such as balls or toys (Miyadera, 2014). As the cones of the eye degenerate, the night blindness will progress to day blindness (Miyadera, 2012). Ultimately, the disease results in total blindness (Miaydera, 2012). Currently, there is no known cure or treatment for slowing down progression of PRCD. Progression varies between individuals but most dogs become completely blind in 1 – 2 years (Zangerl et al., 2006). [86]

Pathology: The PRCD protein is bound to discs in the outer segments of rods and cones (Spencer et al., 2016; Allon et al., 2019). The PRCD protein is essential for long-term photoreceptor viability (Spencer et al., 2019). In PRCD disease, the protein is mislocalised from the outer segment discs (Spencer et al., 2016). In early disease about 40% reduction in rod disc renewal is seen, and the visual cells of the posterior pole and equatorial regions of the eye demonstrate vesicular appearances and outer segment lamellar disorientation (Aguirre et al., 1982; Spencer et al., 2019). As the disease progresses, all photoreceptor outer segments display changes including misoriented discs, subretinal invasion of phagocytic cells and extracellular vesicles (Spencer et al., 2019). Outer segments are eventually lost entirely (Spencer et al., 2019). [86]

Prevalence: Lewis and Mellersh (2019) reported a decline in frequency of the PRCD:c.5G>A variant in Labrador Retrievers from 0.078 (7.8%) prior to publication of the variant, to 0.003 (0.3%) 8-10 years after publication of the variant. This represents a 96.5% decline in frequency of the variant as a result of testing. For the same variant in English Cocker Spaniels, the equivalent results were a decline in frequency from 0.126 (12.6%) to 0.006 (0.6%) 8-10 years after publication of the variant, which represents a decline in frequency of 95.1% as a result of testing. Andrade et al. (2019) reported the frequency of this same variant in English Cocker Spaniels in Brazil: 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered.... The...[PRCD:c.5G>A] allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Clark et al. (2023) utilized a large set of genotypes from dogs tested for the progressive rod-cone degeneration–progressive retinal atrophy (prcd-PRA) G>A missense PRCD variant (n = 86,667) and the collie eye anomaly (CEA)-associated NHEJ1 deletion (n = 33,834)... Forty-one breeds and breed mixes in our prcd-PRA dataset were genotyped for having at least one copy of the PRCD variant.. Regression modeling showed time progression to significantly affect the odds of a dog being homozygous or heterozygous for either disease, as do variables including breed and breed popularity. This study shows that genetic testing informed breeding decisions to produce fewer affected dogs. However, the presence of dogs homozygous for the disease variant, especially for prcd-PRA, was still observed fourteen years after test availability, potentially due to crosses of unknown carriers. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 28634284 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Zangerl et al. (2006) identified a novel gene that they called PRCD in a 106kb candidate region on CFA9. They also showed that "a homozygous mutation (TGC>TAC) in the second codon shows complete concordance with the disorder in 18 different dog breeds/breed varieties tested". Evidence (references) - 1990. Segregation distortion in inheritance of progressive rod cone degeneration (Prcd) in Miniature Poodle dogs. American Journal of Medical Genetics — PubMed:PMID2309782 | DOI:10.1002/ajmg.1320350309 — OMIA Phene_Article / Article - 1996. Nonallelism of erd and prcd and exclusion of the canine rds peripherin gene as a candidate for both retinal degeneration loci. Investigative Ophthalmology & Visual Science — PubMed:PMID8603863 — OMIA Phene_Article / Article - 1988. Variation in retinal degeneration phenotype inherited at the prcd locus. Experimental Eye Research — PubMed:PMID3164273 — OMIA Phene_Article / Article - 1998. Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID9501213 — OMIA Phene_Article / Article - 1997. Cloning of canine ROM-1 and its investigation as a candidate gene for generalized progressive retinal atrophies in dogs. Animal Genetics — PubMed:PMID9589581 — OMIA Phene_Article / Article - 1998. Researchers discover likely link between human, canine gene and blindness. Journal of the American Veterinary Medical Association — PubMed:PMID9634355 — OMIA Phene_Article / Article - 1998. Identification of a RAPD marker linked to progressive rod-cone degeneration in dogs. Mammalian Genome — PubMed:PMID9716659 — OMIA Phene_Article / Article - 1998. Isolation and investigation of canine phosducin as a candidate for canine generalized progressive retinal atrophies. Experimental Eye Research — PubMed:PMID9820795 | DOI:10.1006/exer.1998.0569 — OMIA Phene_Article / Article - 1999. Evaluation of the APOH gene as a positional candidate for prcd in dogs. Investigative Ophthalmology & Visual Science — PubMed:PMID10235557 — OMIA Phene_Article / Article - 2006. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics — PubMed:PMID16938425 | DOI:10.1016/j.ygeno.2006.07.007 — OMIA Phene_Article / Article - 2009. Real-time detection of the mutation responsible for progressive rod-cone degeneration in Labrador Retriever dogs using locked nucleic acid TaqMan probes. J Vet Diagn Invest — PubMed:PMID19737766 — OMIA Phene_Article / Article - 2006. Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics — PubMed:PMID16859891 | DOI:10.1016/j.ygeno.2006.05.013 — OMIA Phene_Article / Article - (26 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:610598 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610599 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [86]

American Eskimo Dog — CalDAG-GEFI thrombopathia; CalDAG-GEFI platelet disorder (hereditary; OMIA-verified breed predisposition)

Breed: American Eskimo Dog (Dog) [87]

Disorder: CalDAG-GEFI thrombopathia; CalDAG-GEFI platelet disorder [87]

Summary: Boudreaux et al. (2007) reported likely causal variants in Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI). Based on NCBI information the gene name was listed as RASGRP1 gene in OMIA. A recent BLAST search of the published data identified that the correct gene name is RASGRP2. Information from OMIA 001003-9615 'Thrombopathia in Canis lupus familiaris' was moved to this entry and variant table information was updated accordingly [22/01/2022]. [87]

Clin feat: Variants in the gene that encodes CalDAG-GEFI cause decreased fibrinogen receptor activation (Cortese et al., 2020) and severely impaired or absent platelet aggregation response to adenosine diphosphate, collagen, and platelet activating factor (Boudreaux et al., 2007). There is also a delayed but full response to thrombin (Boudreaux, 2012). The clot retraction assay is normal (Boudreaux, 2012), but the kinetics are impaired – the time to full aggregation is prolonged to 4-6min compared to 3min in unaffected dogs (Cortese et al., 2020). Clinically, affected dogs experience epistaxis, gingival bleeding and petechiation on mucous membranes and skin, and prolonged bleeding time (Boudreaux et al., 2007). Platelet counts and coagulation screening tests will have normal results (Boudreaux, 2012). Some affected Basset Hounds may present with weakness and rear limb paralysis secondary to spinal cord haemorrhage (Boudreaux, 2012). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388306487 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Boudreaux et al. (2007) reported this disorder in three breeds being due to three different mutations in the RASGRP2 gene that encodes Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI): Eskimo Spitz dogs have frameshift mutation (452-453insA), Bassett Hounds have a three-base deletion (509-511delTCT), and Landseers have a nonsense mutation (982C>T). Evidence (references) - 1989. Absent platelet aggregation with normal fibrinogen binding in Basset Hound hereditary thrombopathy. Thromb Haemost — PubMed:PMID2512673 — OMIA Phene_Article / Article - 1994. Identification of an intrinsic platelet function defect in Spitz dogs. J Vet Intern Med — PubMed:PMID8046682 | DOI:10.1111/j.1939-1676.1994.tb03204.x — OMIA Phene_Article / Article - 2007. Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res — PubMed:PMID17656327 | DOI:10.1016/j.trsl.2007.03.006 — OMIA Phene_Article / Article - 2008. Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc — PubMed:PMID18922051 | DOI:10.2460/javma.233.8.1251 — OMIA Phene_Article / Article - 1979. An inherited platelet function defect in Basset hounds. Can Vet J — PubMed:PMID509382 — OMIA Phene_Article / Article - 2012. Inherited platelet disorders. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID22316339 | DOI:10.1111/j.1476-4431.2011.00702.x — OMIA Phene_Article / Article - 1985. Abnormal release of storage pool adenine nucleotides from platelets of dogs affected with basset hound hereditary thrombopathy. Thromb Res — PubMed:PMID3983903 | DOI:10.1016/0049-3848(85)90033-7 — OMIA Phene_Article / Article - 2020. Platelet function and therapeutic applications in dogs: current status and future prospects. Animals (Basel) — PubMed:PMID31991713 | DOI:10.3390/ani10020201 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615888 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605577 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [87]

American Eskimo Dog — NADH cytochrome B5 reductase deficiency, hereditary canine methaemoglobinaemia. (hereditary; OMIA-verified breed predisposition)

Disorder: NADH cytochrome B5 reductase deficiency, hereditary canine methaemoglobinaemia. [88]

Clin feat: Jaffey et al. (2017): Arterial blood gas analysis with co-oximetry identified methemoglobinemia concurrent with normal arterial oxygen tension at FIO2 = 0.21, which supported a nonrespiratory cause for cyanosis, tachypnea, and exercise intolerance. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: CB5R (Entrez Gene ID 388243402) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Analysis of genome sequence in two comparative candidate genes in a single affected dog enabled Jaffey et al. (2017) to report that "No potentially causal sequence variants were recognized within the CYB5A genic region but, we found 2 heterozygous CYB5R3 missense mutations: [CanFam3.1] chr10:22,832,963G>A that predicted a CYB5R3:p.Gly72Ser amino acid substitution and [CanFam3.1] chr10:22,836,95… Evidence (references) - 2017. Long-term treatment with methylene blue in a dog with hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency. J Vet Intern Med — PubMed:PMID28963729 | DOI:10.1111/jvim.14843 — OMIA Phene_Article / Article - 2018. Familial congenital methemoglobinemia in Pomeranian dogs caused by a missense variant in the NADH-cytochrome B5 reductase gene. J Vet Intern Med — PubMed:PMID29356095 | DOI:10.1111/jvim.15031 — OMIA Phene_Article / Article - 2021. Characterization of a novel nicotinamide adenine dinucleotide-cytochrome b5 reductase mutation associated with canine hereditary methemoglobinemia. J Vet Med Sci — PubMed:PMID33342963 | DOI:10.1292/jvms.20-0390 — OMIA Phene_Article / Article - 2022. Oral methylene blue treatment in a dog with cytochrome B5 reductase deficiency and 78, XX testicular disorder of sex development. Top Companion Anim Med — PubMed:PMID35202847 | DOI:10.1016/j.tcam.2022.100649 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 1996. Congenital erythrocyte enzyme deficiencies. Vet Clin North Am Small Anim Pract — PubMed:PMID8863387 | DOI:10.1016/s0195-5616(96)50052-5 — OMIA Phene_Article / Article - 1991. Methaemoglobin reductase deficiency in dogs. Comparative Haematology International — DOI:10.1007/BF00422695 — OMIA Phene_Article / Article - 2020. Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs. Sci Rep — PubMed:PMID33293645 | DOI:10.1038/s41598-020-78391-2 — OMIA Phene_Article / Article - 2014. Congenital methemoglobinemia in a dog with a promoter deletion and a nonsynonymous coding variant in the gene encoding cytochrome b₅. J Vet Intern Med — PubMed:PMID25145387 | DOI:10.1111/jvim.12423 — OMIA Phene_Article / Article - 2026. Development of cost-effective PCR-RFLP methods for screening Mendelian disorders in Chihuahua dogs. F.U. Vet. J. Health Sci. — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:250800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613213 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [88]

American Foxhound — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: American Foxhound (Dog) [61]

American Foxhound — Hypocatalasia (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: Autosomal [89]

Clin feat: Catalase is an enzyme responsible for breaking down reactive oxygen species. As there are other enzymes able to fulfil this role, hypocatalasia often has no clinical signs. Hypocatalasia has been associated with ulcers of the oral cavity leading to gangrene, a condition known as “Takahara disease” in humans (Fukuda et al., 1982). The pathogenesis of this disease is explained by some oral bacteria producing hydrogen peroxide, which is unable to be decomposed due to catalase deficiency (Ogata et al. 2008). [89]

Prevalence: Noting that the original discovery of the likely causal variant (c.979GA; p.Ala327Thr) was in a Beagle colony, Donner et al. (2016) reported that To our knowledge, presence and manifestation of acatalasemia due to the aforementioned CAT variant has not been previously documented in the pet Beagle population. We therefore note that we identified pet Beagle carriers, and a tenmonth-old mutant homozygous Beagle through panel screening. During this investigation, the genetically affected Beagle developed gangrene of the oral cavity leading to the removal of three teeth at the age of eighteen months, which could be a manifestation of acatalasemia. Donner et al. (2016, 2018) reported additional breeds in which the c.979GA; p.Ala327Thr variant was present: American Foxhound (n=1), English Foxhound (n=1), Harrier 9 (n=6), Miniature Poodle (n=1), Treeing Walker Coonhound (n=2). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403474 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely candidate gene (based on knowledge of the biochemical and physiological properties of the enzyme catalase in affected dogs), Nakamura et al. (2000) reported that the canine disorder in Beagles is due to a missense mutation [in the catalase gene (CAT),] leading to the substitution of alanine(327) (GCT) by threonine (ACT)". Evidence (references) - 2000. cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme. International Journal of Biochemistry & Cell Biology — PubMed:PMID11137458 — OMIA Phene_Article / Article - 1967. The dog as an example of acatalasemia or hypocatalasemia. ANL-7409. ANL Rep — PubMed:PMID5308206 — OMIA Phene_Article / Article - 2000. Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol — PubMed:PMID10661897 — OMIA Phene_Article / Article - 1999. Tissue and organ expression of catalase in acatalasemic beagle dogs. Exp Anim — PubMed:PMID10591001 — OMIA Phene_Article / Article - 2008. Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. Acta Med Okayama — PubMed:PMID19122680 — OMIA Phene_Article / Article - 2016. Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One — PubMed:PMID27525650 | DOI:10.1371/journal.pone.0161005 — OMIA Phene_Article / Article - 1982. Catalase activity of erythrocytes from beagle dog: an appearance of hereditary acatalasemia. Acta Histochem. Cytochem. — OMIA Phene_Article / Article - 2018. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet — PubMed:PMID29708978 | DOI:10.1371/journal.pgen.1007361 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:614097 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:115500 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [89]

American Hairless Terrier — Recessive hairlessness, congenital alopecia (hereditary; OMIA-verified breed predisposition)

Breed: American Hairless Terrier (Dog) [90]

Disorder: Recessive hairlessness, congenital alopecia [90]

Summary: See also [OMIA:000323-9615]: Ectodermal dysplasia in Canis lupus familiaris (dog) for a different genetic form of hairless dogs due to variants in the FOXI3 gene. [90]

Clin feat: American Hairless Terrier puppies are born with a sparse downy coat of hair that is lost within the first months of life and not replaced. Whiskers and eyebrows are present (Sponenberg et al., 1988). The 2 Scottish Deerhound puppies reported by Hytönen & Lohi (2019) were born with sparse hair, but lost it completely within the first 2 months of life. Parker et al. (2020) identified the condition in an independent Scottish Deerhound family and noted that puppies displayed either a normal, full coat or a sparse and receding coat.. In those who initially had hair but went bald, the coat progressively thinned early in life and was completely gone by five weeks. Hairless dogs in both breeds are described as otherwise generally healthy (Parker et al., 2017; Hytönen & Lohi, 2019; Parker et al., 2020), but hairlessness is considered non desirable in the Scottish Deerhound. [90]

Prevalence: Hytönen and Lohi (2019) genotyped the SGK3:c.137_138insT variant... in a cohort of Scottish Deerhounds (n = 66) containing two affected dogs, two unaffected dogs, which had produced affected progeny, and 62 other unaffected dogs from our biobank. Both affected dogs were homozygous for the variant and the two obligate carriers were heterozygous, while the rest of the dogs were either heterozygous (n = 6) or homozygous for the wild-type allele (n = 56). These results demonstrate a full segregation of the variant with the disease and indicate a 12% carrier frequency in the studied cohort. We screened the variant also in a related breed, Irish Wolfhound (n = 91), but did not find any carriers, suggesting a breed-specific variant in SD population. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252519 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Parker et al. (2017) identified a likely causal mutation ("SGK3^Val96GlyfsTer50"): a "deletion [that] removes four bases (TTAG) from chr29 : 16366702–16366705 within exon 4 of the serum/glucocorticoid regulated kinase family member 3 gene (SGK3). This deletion alters the reading frame of the protein at amino acid 96 creating a new protein sequence for 50 amino acids and a premature stop at amino a… Evidence (references) - 2017. The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci — PubMed:PMID27994129 | DOI:10.1098/rstb.2015.0488 — OMIA Phene_Article / Article - 1988. American hairless terriers: a recessive gene causing hairlessness in dogs. J Hered — PubMed:PMID3367039 | DOI:10.1093/oxfordjournals.jhered.a110451 — OMIA Phene_Article / Article - 2019. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions. Hum Genet — PubMed:PMID30927068 | DOI:10.1007/s00439-019-02005-9 — OMIA Phene_Article / Article - 2020. Whole genome analysis of a single Scottish Deerhound dog family provides independent corroboration that a SGK3 coding variant leads to hairlessness. G3 (Bethesda) — PubMed:PMID31727632 | DOI:10.1534/g3.119.400885 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid. Vet Pathol — PubMed:PMID37191329 | DOI:10.1177/03009858231170295 — OMIA Phene_Article / Article - 2006. An overview on congenital alopecia in domestic animals. Vet Dermatol — PubMed:PMID17083571 | DOI:10.1111/j.1365-3164.2006.00544.x — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2025. Analysis of canine gene constraint identifies new variants for orofacial clefts and stature. Genome Res — PubMed:PMID40127928 | DOI:10.1101/gr.280092.124 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:607591 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [90]

American Pit Bull Terrier — Calvarial hyperostotic syndrome (hereditary; OMIA-verified breed predisposition)

Breed: American Pit Bull Terrier (Dog) [91]

Clin feat: Letko et a. (2020): persistent and sharp pain when opening mouth, painful swelling of the jaw, fever, and in some cases also severe pain of ulna and radius bones. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: CHS (no structured Phene_Gene link) - OMIA molecular-genetics note: Letko et al. (2020) whole-genome sequenced an affected American Staffordshire Terrier but were not able to identify a likely causal variant. Evidence (references) - 2012. Calvarial hyperostosis presenting as unilateral exophthalmos in a female English Springer Spaniel. Vet Ophthalmol — PubMed:PMID22192474 | DOI:10.1111/j.1463-5224.2011.00969.x — OMIA Phene_Article / Article - 2011. Idiopathic canine juvenile cranial hyperostosis in a Pit Bull Terrier. N Z Vet J — PubMed:PMID21660851 | DOI:10.1080/00480169.2011.579556 — OMIA Phene_Article / Article - 2020. Whole genome sequencing indicates heterogeneity of hyperostotic disorders in dogs. Genes (Basel) — PubMed:PMID32033218 | DOI:10.3390/genes11020163 — OMIA Phene_Article / Article - 2000. Idiopathic hyperostosis of the calvaria in five young bullmastiffs. J Am Anim Hosp Assoc — PubMed:PMID10997521 | DOI:10.5326/15473317-36-5-439 — OMIA Phene_Article / Article - 2006. Calvarial hyperostosis syndrome in two bullmastiffs. Vet Radiol Ultrasound — PubMed:PMID16429988 | DOI:10.1111/j.1740-8261.2005.00108.x — OMIA Phene_Article / Article - 2015. Calvarial hyperostosis syndrome in a young Weimaraner dog. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 2025. Suspected calvarial hyperostosis syndrome causing different ophthalmological signs in two young Labrador Retrievers-Case report. Vet Ophthalmol — PubMed:PMID39988334 | DOI:10.1111/vop.70007 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:302030 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [91]

American Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (hereditary; OMIA-verified breed predisposition)

Clin feat: As reported by Kijas et al. (2004): early, severe, and rapidly progressive loss of cone function accompanied by progressive rod loss that is only relatively slower. Very similar clinical signs were reported by Kijas et al. (2004) in a family of American Staffordshire Terriers, but these authors showed that the two disorders are not allelic, and consequently named the other disorder crd1 (see OMIA 001674-9615) [92]

Pathology: As reported by Goldstein et al. (2013): By 12 weeks of age,... the ONL [outer nuclear layer] of the crd2-affected retina comprised only 5-7 layers; cone and rod inner and outer segments were present but distinctly abnormal, disorganized, and reduced in size and number compared to age-matched normal retina.... At 20 months of age, no IS [inner segments] and OS [outer segments] were present in the crd2-affected retina, and the ONL was thinned to nowhere more than 2 cell layers [92]

Control: Aguirre et al. (2021): show that adeno-associated virus (AAV)-mediated NPHP5 [IQCB1] gene augmentation of mutant canine retinas at the time of active degeneration and peak cell death stably restores photoreceptor structure, function, and vision with either the canine or human NPHP5 [IQCB1] transgenes. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246541 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Sequencing of a likely candidate gene (IQCB1, also called NPHP5) in the candidate block (see Mapping section) enabled Goldstein et al. (2013) to identify the causal mutation to be "3 cytosines compared to 2 in the wild-type allele (CFA33: 28,120,686-28,120,687 . . . . This insertion, c.952-953insC, causes a frameshift that results in a change of 12 amino acids (amino acids 319-330) and introductio… Evidence (references) - 2004. Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis — PubMed:PMID15064680 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2013. IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci — PubMed:PMID24045995 | DOI:10.1167/iovs.13-12915 — OMIA Phene_Article / Article - 2016. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. Hum Mol Genet — PubMed:PMID27506978 | DOI:10.1093/hmg/ddw254 — OMIA Phene_Article / Article - 2021. Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis. Mol Ther — PubMed:PMID33781914 | DOI:10.1016/j.ymthe.2021.03.021 — OMIA Phene_Article / Article - 2022. Altered transsulfuration pathway enzymes and redox homeostasis in inherited retinal degenerative diseases. Exp Eye Res — PubMed:PMID34954206 | DOI:10.1016/j.exer.2021.108902 — OMIA Phene_Article / Article - 2016. The genetics of inherited retinal disorders in dogs: implications for diagnosis and management. Vet Med (Auckl) — PubMed:PMID30050836 | DOI:10.2147/VMRR.S63537 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Cone-driven, geniculo-cortical responses in canine models of outer retinal disease. bioRxiv — PubMed:PMID38168165 | DOI:10.1101/2023.12.13.571523 — OMIA Phene_Article / Article - 2024. Cone-driven, geniculocortical responses in canine models of outer retinal disease. Transl Vis Sci Technol — PubMed:PMID38241039 | DOI:10.1167/tvst.13.1.18 — OMIA Phene_Article / Article - 2024. Canine models of inherited retinal diseases: from neglect to well-recognized translational value. Mamm Genome — PubMed:PMID39739008 | DOI:10.1007/s00335-024-10091-y — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article - (1 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:609237 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609254 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [92]

American Staffordshire Terrier — Calvarial hyperostotic syndrome (hereditary; OMIA-verified breed predisposition)

Breed: American Staffordshire Terrier (Dog) [91]

American Staffordshire Terrier — Cerebellar cortical abiotrophy, cerebellar cortical degeneration, neuronal ceroid lipofuscinosis (hereditary; OMIA-verified breed predisposition)

Disorder: Cerebellar cortical abiotrophy, cerebellar cortical degeneration, neuronal ceroid lipofuscinosis [93]

Summary: Dogs with this lysosomal storage disorder have late-onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death. [93]

Clin feat: Signs include late onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death. Kick et al. (2025) report retinal function deficits in affected American Staffordshire Terriers. [93]

Pathology: Lysosomal storage inhibits intracellular and membrane trafficking, autophagy, and calcium storage, impair vesicle formation, and leads to premature neuronal apoptosis (Abitbol et al., 2010, Bellettato et al., 2010). Lesions include severe cerebellar cortical abiotrophy and remodeling with loss of Purkinje cells. Remaining Purkinje cells contain autofluorescent cytoplasmic storage material. [93]

Prevalence: In populations in the USA and France, 50% of American Staffordshire Terriers tested were carriers (Abitbol et al., 2010). [93]

Control: Relatives to affected dogs should be tested. Avoid breeding affected dogs. Carriers should be bred only to noncarriers. [93]

Gen test: A test is available. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 12940887 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Abitbol et al. (2010) reported a likely causative mutation in American Staffordshire Terriers as a c.296G>A transition in the gene encoding the lysosomal enzyme arylsulfatase G. The variant leads to the p.R99H substitution in the protein. Affected dogs are deficient in ARSG. Nolte et al. (2016) reported the same variant in another affected American Staffordshire Terrier. Evidence (references) - 2003. [Cerebellar cortical abiotrophy in American Staffordshire terriers: clinical and pathological description of 3 cases]. Schweiz Arch Tierheilkd — PubMed:PMID12951908 | DOI:10.1024/0036-7281.145.8.369 — OMIA Phene_Article / Article - 2004. Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment. Acta Neuropathol — PubMed:PMID15365721 | DOI:10.1007/s00401-004-0902-7 — OMIA Phene_Article / Article - 2004. Cerebellar cortical degeneration in adult American Staffordshire Terriers. J Vet Intern Med — PubMed:PMID15058771 | DOI:10.1892/0891-6640(2004)182.0.co;2 — OMIA Phene_Article / Article - 2010. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A — PubMed:PMID20679209 | DOI:10.1073/pnas.0914206107 — OMIA Phene_Article / Article - 2010. Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis — PubMed:PMID20429032 | DOI:10.1007/s10545-010-9075-9 — OMIA Phene_Article / Article - 2013. Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta — PubMed:PMID23338040 | DOI:10.1016/j.bbadis.2013.01.009 — OMIA Phene_Article / Article - 2013. The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One — PubMed:PMID24069350 | DOI:10.1371/journal.pone.0074811 — OMIA Phene_Article / Article - 2016. Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. Tierarztl Prax Ausg K Kleintiere Heimtiere — PubMed:PMID27778018 | DOI:10.15654/TPK-150766 — OMIA Phene_Article / Article - 2017. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis — PubMed:PMID28860089 | DOI:10.1016/j.nbd.2017.08.017 — OMIA Phene_Article / Article - 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article - 2006. [Cerebellar cortical degeneration in an American Staffordshire terrier]. Tijdschr Diergeneeskd — PubMed:PMID16916197 — OMIA Phene_Article / Article - 2014. Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity. J Biol Chem — PubMed:PMID25135642 | DOI:10.1074/jbc.M114.584144 — OMIA Phene_Article / Article - (7 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:610008 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [93]

American Staffordshire Terrier — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome [94]

Clin feat: In dogs, MLPH-related color dilution predisposes to a skin disease termed color dilution alopecia (CDA). The health problems appear to be specific to dogs. In other mammalian species, loss-of-function of the MLPH gene exclusively results in coat color dilution, without any known health problems (e.g. cats, mice, rats). A fraction of the dogs with MLPH-related dilute coat color develop hair loss or alopecia (Welle et al., 2009). This disease is termed color dilution alopecia (CDA). The CDA phenotype is highly variable in severity. Mildly affected dogs will show some hair loss, but are otherwise healthy and do not require therapy. In more severe forms, the hair loss can be extensive and a generalized inflammation of the skin may develop (folliculitis). This causes puritus and/or pain to the dogs and will require treatment with antibiotics. The skin infections in severely affected dogs will be recurring and require life-long treament. The pigment dilution leads to large melanin aggregates, the so-called macromelanosomes. Incorporation of large macromelanosomes into growing hair shafts reduces their mechanical stability and makes them susceptible to hair shaft breaks, which manifest as clinically visible hypotrichosis or alopecia. The proximal parts of broken hair shafts may irritate the infundibulum and this may cause the folliculitis. There are clear breed differences in the susceptibility to CDA. In some breeds, dilute-coloured dogs rarely or never develop CDA (e.g. Weimaraners). In other breeds, most or even all dilute-coloured dogs will develop CDA. It is therefore not recommended to introgress dilute alleles into new breeds. A deterrent example are the Labrador Retrievers with dilute coat colors (silver, charcoal, champagne) that were bred by introgression of Weimaraners into Labrador Retrievers. While the dilute Weimaraners are rarely or never affected with CDA, dilute colored Labrador Retrievers are very prone to develop a severe form of CDA. In dilute-colored dogs with white spotting, only the pigmented skin areas will be affected by CDA, while the unpigmented skin and hair remains normal. This phenotype has occasionally been termed black hair follicular dysplasia (BHFD), e.g. in Large Münsterlanders (von Bomhard et al., 2006). It is suggested to consistently apply the term CDA to all forms of alopecia that are caused by MLPH-related coat color dilution and pigment aggregation. The term BHFD has been used in different contexts and may also have been used for genetically distinct forms of alopecia (e.g. Bohnhorst et al., 2001). [94]

Pathology: von Bomhard et al. (2006) investigated a litter of Large Münsterländer cross-bred dogs, of which four puppies were affected with CDA (BHFD)..Affected dogs were born with silvery grey hair, a consequence of melanin clumping in the hair shafts. Hair bulb melanocytes were densely pigmented, and contained abundant stage IV melanosomes but adjacent matrix keratinocytes lacked melanosomes. Melanin clumping was not prominent in epidermal melanocytes in the haired skin but occurred in the foot pads. Follicular changes progressed from bulbar clumping, clumping in the isthmus/infundibulum and finally to dysplastic hair shafts. Alopecia developed progressively in pigmented areas.. and.In all affected dogs, epidermal melanocytes were heavily pigmented with perinuclear accumulation of pigment. Cellular processes were rarely identifiable. The surrounding keratinocytes were sparsely pigmented. Welle et al. (2009) noted that. 22 out of 29 dogs with clinical signs of CDA/BHFD have clumped melanin in the epidermis, the follicular epithelium, and the hair shafts, whereas in dilute dogs without clinical disease, clumped melanin is only found in the follicular epithelium and the hair shafts but not in the epidermis. [94]

Prevalence: Van Buren et al. (2020): The d^3 allele is found at low frequency in multiple dog breeds, as well as in wolves, wolf-dog hybrids, and indigenous dogs.The d3 allele was found in a wide spectrum of breeds and other canids, minimally including the Hungarian pumi, Hungarian mudi, Chihuahua, Pekingese, Italian greyhound, Shih Tzu, Tibetan mastiff, Yorkshire terrier, and Shetland sheepdog, as well as indigenous dogs, wolves, and wolf-dog hybrids. The wolf-dog hybrids in this study that carry the d3 variant have recent ancestry behind them, including wolf, Alaskan Malamute, German shepherd dog, Siberian husky, and collie. The presence of the d3 variant in village dogs and wolves may indicate that this variant represents an ancient mutation, persisting at a low frequency across some breeds, while being lost in others. However, given that this variant is a single nucleotide insertion in an 8 bp poly C stretch, the possibility that d3 is identical by state, at least in some breeds, must be considered. [94]

Gen test: Van Buren et al. (2020): As this newly identified c.667_668insC d3 variant does not resolve all MLPH genotype/phenotype inconsistencies, additional variants are likely. This fact must be taken under consideration when performing genetic testing and counseling. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3539089 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous phenotype in humans and mice), namely MLPH, Drögemüller et al. (2007) identified a causal mutation as an "an A/G SNP located at the last nucleotide of the untranslated exon 1 (c.-22G>A, omia.variant:360)" which "affects a conserved nucleotide of the splice donor recognition motif". As a result o… Evidence (references) - 1993. Colour mutant alopecia in a Kelpie X Border Collie dog. Aust Vet J — PubMed:PMID8257319 | DOI:10.1111/j.1751-0813.1993.tb00822.x — OMIA Phene_Article / Article - 1995. Black hair follicular dysplasia. Veterinary Record — PubMed:PMID7725619 — OMIA Phene_Article / Article - 1995. Black hair follicular dysplasia in UK bred Salukis. Veterinary Record — PubMed:PMID8533225 — OMIA Phene_Article / Article - 1995. Color mutant alopecia in a yorkshire terrier [German]. Kleintierpraxis — OMIA Phene_Article / Article - 1995. Colour dilution alopecia (cda) in ten yorkshire terriers. Veterinary Dermatology — OMIA Phene_Article / Article - 1996. Black hair follicular dysplasia in a tricolour Jack Russell terrier. Veterinary Record — PubMed:PMID8735542 — OMIA Phene_Article / Article - 1996. Colour dilution alopecia in seven Dachshunds - a clinical study and the hereditary, microscopical and ultrastructural aspect of the disease. Veterinary Dermatology — OMIA Phene_Article / Article - 1997. Multiple skin tumours in a Doberman Pinscher with colour dilution alopecia. Veterinary Dermatology — OMIA Phene_Article / Article - 1998. A retrospective study of dysplastic hair follicles and abnormal melanization in dogs with follicular dysplasia syndromes or endocrine skin disease. Veterinary Dermatology — OMIA Phene_Article / Article - 1999. Colour dilution alopecia in a German Shepherd dog. Canine Practice — OMIA Phene_Article / Article - 1999. Black Hair Follicular Dysplasie in a mixed-breed dog [German]. Kleintierpraxis — OMIA Phene_Article / Article - 2001. Antinuclear antibodies (ANA) in Gordon setters with symmetrical lupoid onychodystrophy and black hair follicular dysplasia. Acta Vet Scand — PubMed:PMID11887392 | DOI:10.1186/1751-0147-42-323 — OMIA Phene_Article / Article - (24 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:609227 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606526 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [94]

American Staffordshire Terrier — Hyperuricosuria and hyperuricemia (hereditary; OMIA-verified breed predisposition)

Disorder: Hyperuricosuria and hyperuricemia [95]

Summary: This entry focuses on hyperuricosuria and hyperuricemia and resulting urate urolithiasis. Not all dogs with hyperuricosuria and hyperuricemia will develop urolithiasis. For cystine urolithiasis see various entries for cystinuria: [OMIA:000256-9615]: Cystinuria, type I - A in Canis lupus familiaris (dog), [OMIA:001879-9615]: Cystinuria, type II - A in Canis lupus familiaris (dog),[OMIA:001880-9615]: Cystinuria, type II - B in Canis lupus familiaris (dog), [OMIA:001881-9615]: Cystinuria, type III in Canis lupus familiaris (dog). The reference list below includes some papers relating to other forms of urolithiasis (e.g. calcium oxalate or struvites) and it is noted that some forms of urolithiasis do not have a genetic aetiology. For example, any cause of severe hepatic dysfunction may predispose dogs to urate lithogenesis (Bartges et al., 1999). [95]

Clin feat: Individuals with a mutation at the SLC2A9 gene accumulate uric acid due to inefficient transport of uric acid in both the liver and renal proximal tubules (Bannasch et al., 2008). High levels of uric acid excretion predispose the formation of ammonium urate uroliths (Bartges and Callens, 2015). Clinical signs are secondary to urate urolith formation in the ureter, bladder, and urethra. Uroliths are more commonly reported in male dogs with the first episode of calculus formation in Dalmatians in males at about 4.5 years and in females at 5.5 years of age (Case et al. 1993). Affected dogs may have pollakiuria or hematuria, or they may be asymptomatic. Small uroliths may be voided in urine, or the urine may be turbid. If urethral obstruction is present, owners may notice the dog attempting to urinate and not voiding any urine or systemic signs of obstructive uropathy (i.e., anorexia, vomiting, muscle fasciculations, depression, collapse). Urate nephroliths may be asymptomatic or may be associated with silent gross hematuria. Nephroliths that obstruct both renal pelves or both ureters are associated with systemic signs of postrenal azotemia (Bartges et al. 1999) Systemically, hyperkalemia, metabolic acidosis, and dehydration can be observed in some animals (Bartges and Callens, 2015). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 27949574 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Sequencing and expression analysis of one of the four positional candidate genes (see Mapping section) by Bannasch et al. (2008) identified the causal mutation as "a missense mutation (G616T;C188F)" in the SLC2A9 gene. All Dalmations are homozygous for this mutation. Karmi et al. (2010) conducted two studies in which they genotyped dogs of several other breed for this variant and identified that t… Evidence (references) - 1940. The inheritance of predisposition to renal calculi in the Dalmatian. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1918. The purine metabolism of the Dalmatian Coach Hound. Journal of Biological Chemistry — OMIA Phene_Article / Article - 1948. Effect of sodium salicylate upon the uric acid clearance of the Dalmatian dog. American Journal of Physiology — OMIA Phene_Article / Article - 1923. Uric acid and allantoin excretion among offspring of Dalmatian hybrids. Biochem J — PubMed:PMID16743253 | DOI:10.1042/bj0170564 — OMIA Phene_Article / Article - 1955. Canine urolithiasis: a survey and discussion of 52 clinical cases. Journal of the American Veterinary Medical Association — PubMed:PMID13221500 — OMIA Phene_Article / Article - 1948. Observations concerning the causes of the excess excretion of uric acid in the Dalmatian dog. Journal of Biological Chemistry — OMIA Phene_Article / Article - 1971. Low uricase activity in the Dalmatian dog simulated in mongrels given uronic acid. American Journal of Physiology — PubMed:PMID5551153 — OMIA Phene_Article / Article - 1993. Urolithiasis in Dalmatians - 275 Cases (1981-1990). Journal of the American Veterinary Medical Association — PubMed:PMID8407468 — OMIA Phene_Article / Article - 1993. Metabolic and Genetic Aspects of Urate Urolithiasis in Dalmatians. Journal of the American Veterinary Medical Association — PubMed:PMID8226242 — OMIA Phene_Article / Article - 1993. Diagnosis, Prevention, and Treatment of Urate Urolithiasis in Dalmatians. Journal of the American Veterinary Medical Association — PubMed:PMID8226243 — OMIA Phene_Article / Article - 1998. Association between hyperadrenocorticism and development of calcium-containing uroliths in dogs with urolithiasis. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1998. Urolithiasis in dogs iii - prevalence of urinary tract infection and interrelations of infection, age, sex, and mineral composition. American Journal of Veterinary Research — PubMed:PMID9582970 — OMIA Phene_Article / Article - (71 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:220150 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606142 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612076 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [95]

American Staffordshire Terrier — Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X (hereditary; OMIA-verified breed predisposition)

Disorder: Procoagulant expression; Canine Platelet Procoagulant Deficiency; Deficiency of Platelet Receptor for Factor X [96]

Clin feat: In a clinical setting CSS typically manifests as post-operative bruising and haematoma formation with a few reports of nontraumatic haemorrhage into joints and soft tissue and epistaxis. These clinical signs differ from classic platelet defects; and as platelet count, coagulation & VWF screening tests are all normal, this makes diagnosis of a platelet procoagulant deficiency complicated (Jandrey et al., 2012). [96]

Pathology: The pathology of CSS is characterised by a deficiency of platelet procoagulant activity. Affected dogs have normal fluid phase coagulation and normal platelet aggregation and secretion (Brooks et al., 2002). However, their platelets fail to catalyse the conversion of prothrombin to thrombin (prothrombinase activity), thus inhibiting initiation of the coagulation cascade (Brooks et al., 2006). Platelets also failed to express phosphatidylserine on their cell membranes and formed abnormal microvesiculations (Jandrey et al., 2012). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: TMEM16F (Entrez Gene ID 388252255) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Brooks et al. (2015) reported that the likely causal variant for this disorder in German shepherd dogs is a splice-site mutation g.8912219 G>A in the TMEM16F gene (also known as ANO6). Evidence (references) - 2002. A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity. Blood — PubMed:PMID11895776 | DOI:10.1182/blood.v99.7.2434 — OMIA Phene_Article / Article - 2010. A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. Gene — PubMed:PMID19854246 | DOI:10.1016/j.gene.2009.09.016 — OMIA Phene_Article / Article - 2009. Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. Vet Clin Pathol — PubMed:PMID19351331 | DOI:10.1111/j.1939-165X.2009.00141.x — OMIA Phene_Article / Article - 2008. Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. J Thromb Haemost — PubMed:PMID15761668 | DOI:10.1007/s00018-005-4527-3 — OMIA Phene_Article / Article - 2007. Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. J Thromb Haemost — PubMed:PMID17723137 | DOI:10.1111/j.1538-7836.2007.02683.x — OMIA Phene_Article / Article - 2012. Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). J Vet Intern Med — PubMed:PMID23061683 | DOI:10.1111/j.1939-1676.2012.01012.x — OMIA Phene_Article / Article - 2015. A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling. J Thromb Haemost — PubMed:PMID26414452 | DOI:10.1111/jth.13157 — OMIA Phene_Article / Article - 2006. Scott syndrome dogs demonstrate a failure of coated-platelet formation. Blood — DOI:doi.org/10.1182/blood.V108.11.1104.1104 — OMIA Phene_Article / Article - 2023. Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLoS Genet — PubMed:PMID36848397 | DOI:10.1371/journal.pgen.1010651 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. Clinical assessment of primary hemostasis: A review. Top Companion Anim Med — PubMed:PMID37673175 | DOI:10.1016/j.tcam.2023.100818 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:262890 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608663 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [96]

American Staffordshire Terrier — Retinal atrophy - Cone-rod dystrophy 1 (hereditary; OMIA-verified breed predisposition)

Pathology: As reported by Goldstein et al. (2013): At 11 weeks postnatal age, the earliest time-point examined, the outer nuclear layer (ONL) of the crd1-affected retina was reduced to between 6 to 8 nuclei in thickness.... Photoreceptor IS [inner segments] and OS [outer segments] were distinctly distorted, with rod IS more severely affected than those of cones. Relatively few OS of either rods or cones were recognizable, and the profiles that comprised the putative ISL and OSL (i.e. the layer between the outer limiting membrane and the retinal pigment epithelium) were sparse and disarrayed (Figure 2C). By 20 months of age, the crd1-affected retina was in an advanced state of degeneration, with less than 2-3 ONL cells Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: PDBS (Entrez Gene ID 399653) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Sequencing of a likely candidate gene (PDE6B) in the candidate block (see Mapping section) enabled Goldstein et al. (2013) to identify the causal mutation to be "a three-bases-deletion . . . in exon 21 of the gene in the affected dogs (c.2404-2406del, CFA3: 94,574,289-94,574,291), in-frame with the protein . . . . This mutation would result in a deletion of the amino acid asparagine at position 80… Evidence (references) - 2004. Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis — PubMed:PMID15064680 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2013. IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci — PubMed:PMID24045995 | DOI:10.1167/iovs.13-12915 — OMIA Phene_Article / Article - 2016. The genetics of inherited retinal disorders in dogs: implications for diagnosis and management. Vet Med (Auckl) — PubMed:PMID30050836 | DOI:10.2147/VMRR.S63537 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:163500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613801 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:180072 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [97]

American Staffordshire Terrier — Ullrich-like congenital muscular dystrophy; sarcolemmal specific collagen VI deficient myopathy (hereditary; OMIA-verified breed predisposition)

Disorder: Ullrich-like congenital muscular dystrophy; sarcolemmal specific collagen VI deficient myopathy [98]

Summary: see also 'Muscular dystrophy, Ullrich type, COL6A1-related in Canis lupus familiaris' for similar disease in Landseer dogs Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388199093 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2013. Sarcolemmal specific collagen VI deficient myopathy in a Labrador Retriever. J Vet Intern Med — PubMed:PMID24147807 | DOI:10.1111/jvim.12224 — OMIA Phene_Article / Article - 2020. Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. Neuromuscul Disord — PubMed:PMID32439203 | DOI:10.1016/j.nmd.2020.03.005 — OMIA Phene_Article / Article - 2023. Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy. J Vet Intern Med — PubMed:PMID37706358 | DOI:10.1111/jvim.16862 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:254090 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120250 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [98]

American Staffordshire Terrier — also called: multiple osteochondromas, multiple hereditary exostoses, multiple cartilaginous exostoses, diaphyseal aclasis and hereditary deforming chondrodysplasia (hereditary; OMIA-verified breed predisposition)

Disorder: also called: multiple osteochondromas, multiple hereditary exostoses, multiple cartilaginous exostoses, diaphyseal aclasis and hereditary deforming chondrodysplasia [99]

Clin feat: Osteochondromatosis is a skeletal developmental disorder that results in exostoses (cartilage capped bone outgrowths) that develop during the growth period (Pacifici, 2017). Depending on the location and size of the exostoses, osteochondromatosis can clinically present asymptotically, or can cause pain, lameness, paresis and paralysis (Czerwik et al. 2019). Clinical signs often occur due to compression of nearby tissues, including nerve root compression (causing pain) or spinal cord compression (causing paralysis) (Friedenberg et al., 2018). [99]

Pathology: Whilst the pathophysiology and progression of the condition remains unclear, the disease is associated with abnormal migration of chondrocytes from the epiphyseal growth plates towards the bony cortex (Czerwik et al., 2019). The heterotopic cartilage cells that become ossified causes irregular bone formation on bone surfaces (Doige, 1987). The exostoses mainly occur on tissues that undergo endochondral ossification, including long bones, ribs and spinous processes of vertebrae (Doige, 1987). Growth of osteochondromas ceases at the time of physeal closure, known as skeletal maturity (Mozos et al., 2002). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244566 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Friedenberg et al. (2018) reported a likely de novo causal variant in American Staffordshire Terriers as "One heterozygous variant (c.969C > A) is predicted to result in a stop codon in exon 5 of the [EXT2] gene. Sanger sequencing identified the identical mutation in all affected offspring. The mutation was absent in the unaffected offspring, both parents, all available grandparents, and 26 health… Evidence (references) - 1971. Multiple cartilaginous exostoses with develpment of a metastasizing osteosarcoma in a Shetland Sheepdog. Journal of Small Animal Practice — PubMed:PMID5315155 | DOI:10.1111/j.1748-5827.1971.tb06262.x — OMIA Phene_Article / Article - 1993. Osteochondroma causing progressive posterior paresis in a Lakeland Terrier puppy. Veterinary Record — PubMed:PMID8337809 | DOI:10.1136/vr.132.24.608 — OMIA Phene_Article / Article - 1996. Canine multiple cartilaginous exostoses - unusual manifestations and a review of the literature [Review]. Journal of the American Animal Hospital Association — PubMed:PMID8963735 | DOI:10.5326/15473317-32-1-45 — OMIA Phene_Article / Article - 1996. Osteochondromatosis of the cervical spine causing compressive myelopathy in a dog. Journal of Small Animal Practice — PubMed:PMID8683956 | DOI:10.1111/j.1748-5827.1996.tb02362.x — OMIA Phene_Article / Article - 1983. Selected skeletal dysplasias: craniomandibular osteopathy, multiple cartilaginous exostoses, and hypertrophic osteodystrophy. Vet Clin North Am Small Anim Pract — PubMed:PMID6346655 | DOI:10.1016/s0195-5616(83)50004-1 — OMIA Phene_Article / Article - 2018. A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers. J Vet Intern Med — PubMed:PMID29485212 | DOI:10.1111/jvim.15073 — OMIA Phene_Article / Article - 1971. Multiple cartilaginous exostoses in two generations of dogs. J Am Vet Med Assoc — PubMed:PMID5315272 — OMIA Phene_Article / Article - 1978. Chondrosarcoma arising in multiple cartilaginous exostoses in a dog. J Am Anim Hosp Assoc. — OMIA Phene_Article / Article - 1975. Spinal cord compression caused by osteocartilaginous exostoses of the spine in two dogs. J Am Vet Med Assoc — PubMed:PMID1116955 — OMIA Phene_Article / Article - 1998. Rare presentation of hereditary multiple exostoses. A case report. J Am Podiatr Med Assoc — PubMed:PMID9542355 | DOI:10.7547/87507315-88-3-135 — OMIA Phene_Article / Article - 1999. Malignant transformation of solitary spinal osteochondroma in two mature dogs. Vet Radiol Ultrasound — PubMed:PMID10608692 | DOI:10.1111/j.1740-8261.1999.tb00891.x — OMIA Phene_Article / Article - 1970. Case report. Multiple cartilaginous exostoses in a dog. Can Vet J — PubMed:PMID5310518 — OMIA Phene_Article / Article - (5 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:133701 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608210 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [99]

American Toy Terrier — Primary lens luxation; isolated canine ectopia lentis; luxatio lentis (hereditary; OMIA-verified breed predisposition)

Breed: American Toy Terrier (Dog) [100]

Disorder: Primary lens luxation; isolated canine ectopia lentis; luxatio lentis [100]

Summary: see also OMIA 001976-9615: Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris [100]

Clin feat: The clinical features associated with primary lens luxation (PLL) are changes to eye lens stability in both eyes, with varying severity of clinical signs associated with each eye. PLL typically goes undetected until the lens displaces in one eye. Dogs typically present with concurrent partial lens displacement of the other eye, which progresses into full displacement weeks to months later (Farias et al., 2010; Colitz & O’Connell, 2015). The lens usually moves anteriorly causing disruption to the pupil and draining mechanism in the eye, leading to acute glaucoma (Gould et al., 2011; Gharahkhani et al., 2015). [100]

Prevalence: Tzouganakis et al. (2022) genotyped 82 Portuguese Podengo dogs in the UK genotyping for the ADAMTS17:c.1473+1G>A mutation. The allele frequency for the variant was estimated calculated as 0.09. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26591637 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing the positional candidate gene ADAMTS17, Farias et al. (2010) identified the causal mutation as "a G→A transition at c.1473+1, which destroys the splice donor recognition site in intron 10". Gould et al. (2011) "screened 121 dogs of 30 different breeds that were clinically affected with PLL for the previously described ADAMTS17 mutation [OMIA variant:365]. ... In addition to the three… Evidence (references) - 1970. Lens luxation in the Webster Terrier. Veterinary Record — PubMed:PMID5461252 — OMIA Phene_Article / Article - 1979. Genetic aspects of lens luxation in the Tibetan Terrier. Veterinary Record — PubMed:PMID314700 — OMIA Phene_Article / Article - 1978. Lens luxation and progressive retinal atrophy in the Tibetan Terrier. Vet Rec — PubMed:PMID308725 | DOI:10.1136/vr.103.8.160 — OMIA Phene_Article / Article - 1971. Glaucoma and lens luxation in a dog. Veterinary Medicine and Small Animal Clinician — PubMed:PMID5209417 — OMIA Phene_Article / Article - 1990. Lens luxation in the dog and cat. Vet Clin North Am Small Anim Pract — PubMed:PMID2194357 | DOI:10.1016/s0195-5616(90)50061-3 — OMIA Phene_Article / Article - 2007. Mapping the mutation causing lens luxation in several terrier breeds. J Hered — PubMed:PMID17573382 | DOI:10.1093/jhered/esm029 — OMIA Phene_Article / Article - 2004. Genetic analysis of presumed inherited eye diseases in Tibetan Terriers. Vet J — PubMed:PMID15301758 | DOI:10.1016/S1090-0233(03)00143-6 — OMIA Phene_Article / Article - 2008. Inheritance of cataracts and primary lens luxation in Jack Russell Terriers. Am J Vet Res — PubMed:PMID18241019 | DOI:10.2460/ajvr.69.2.222 — OMIA Phene_Article / Article - 2010. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci — PubMed:PMID20375329 | DOI:10.1167/iovs.09-5142 — OMIA Phene_Article / Article - 1998. Primary lens luxation in the Chinese Shar Pei: clinical and hereditary characteristics. Vet Ophthalmol — PubMed:PMID11397217 — OMIA Phene_Article / Article - 1983. Primary lens luxation in the miniature bull terrier. Vet Rec — PubMed:PMID6602414 — OMIA Phene_Article / Article - 1983. Clinical and pathological observations concerning the aetiology of primary lens luxation in the dog. Vet Rec — PubMed:PMID6601878 — OMIA Phene_Article / Article - (25 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:613195 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607511 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [100]

American Water Spaniel — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: American Water Spaniel (Dog) [68]

Anatolian Shepherd Dog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Anatolian Shepherd Dog (Dog) [68]

Anatolian Shepherd Dog — Entropion (hereditary; OMIA-verified breed predisposition)

Summary: Genetics Committee of the American College of Veterinary Opthalmologists (2021): Entropion is a conformational defect resulting in inversion of the eyelid margin which may cause ocular irritation. It is likely that entropion is influenced by several factors defining the skin and other structures, which make up the eyelids, orbital contents, and conformation of the skull. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Causal variant(s) - Variant: chromosome 19; nt change NM_001034039.2:c.4234G>A; protein NP_001029211.1:p.(D1412N); pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 19; nt change NM_001034039.2:c.4234G>A; protein NP_001029211.1:p.(D1412N); pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 19; nt change NM_001034039.2:c.4234G>A; protein NP_001029211.1:p.(D1412N); pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 19; nt change NM_001034039.2:c.4234G>A; protein NP_001029211.1:p.(D1412N); pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 19; nt change NM_001034039.2:c.4234G>A; protein NP_001029211.1:p.(D1412N); pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1990. Bilateral congenital entropion in a female Karabas dog.. Praktische Tierarzt — OMIA Phene_Article / Article - 1995. Ectropion and entropion in the Shar Pei [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1999. Brow suspension for treatment of ptosis and entropion in dogs with redundant facial skin folds. Journal of the American Veterinary Medical Association — PubMed:PMID10088013 — OMIA Phene_Article / Article - 2015. A retrospective survey of ocular abnormalities in pugs: 130 cases.. J Small Anim Pract — PubMed:PMID25370448 | DOI:10.1111/jsap.12291 — OMIA Phene_Article / Article - 2016. Epidemiology of ocular disorders presumed to be inherited in three large Italian dog breeds in Italy.. Vet Ophthalmol — PubMed:PMID27860098 | DOI:10.1111/vop.12442 — OMIA Phene_Article / Article - 2007. Entropion correction in dogs and cats using a combination Hotz-Celsus and lateral eyelid wedge resection: results in 311 eyes.. Vet Ophthalmol — PubMed:PMID17204122 | DOI:10.1111/j.1463-5224.2007.00482.x — OMIA Phene_Article / Article - 2019. The use of hyaluronic acid subdermal filler for entropion in canines and felines: 40 cases.. Vet Ophthalmol — PubMed:PMID29520917 | DOI:10.1111/vop.12566 — OMIA Phene_Article / Article - 2017. Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy.. Vet Ophthalmol — PubMed:PMID29284193 | DOI:10.1111/vop.12542 — OMIA Phene_Article / Article - 2023. Novel findings on the anatomy of medial canthus in dogs.. Vet Ophthalmol — PubMed:PMID36847328 | DOI:10.1111/vop.13072 — OMIA Phene_Article / Article - 2023. A combination of modified Kuhnt-Szymanowski and Celsus-Hotz techniques for correction of entropion and overlong lower eyelids in dogs (40 eyes).. Vet Ophthalmol — PubMed:PMID36948518 | DOI:10.1111/vop.13084 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Entropion - the most common condition in shar pei dogs.. Vet Rec — PubMed:PMID38180193 | DOI:10.1002/vetr.3803 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1990. Bilateral congenital entropion in a female Karabas dog. Praktische Tierarzt — OMIA Phene_Article / Article - 1995. Ectropion and entropion in the Shar Pei [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1999. Brow suspension for treatment of ptosis and entropion in dogs with redundant facial skin folds. Journal of the American Veterinary Medical Association — PubMed:PMID10088013 — OMIA Phene_Article / Article - 2015. A retrospective survey of ocular abnormalities in pugs: 130 cases. J Small Anim Pract — PubMed:PMID25370448 | DOI:10.1111/jsap.12291 — OMIA Phene_Article / Article - 2016. Epidemiology of ocular disorders presumed to be inherited in three large Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID27860098 | DOI:10.1111/vop.12442 — OMIA Phene_Article / Article - 2007. Entropion correction in dogs and cats using a combination Hotz-Celsus and lateral eyelid wedge resection: results in 311 eyes. Vet Ophthalmol — PubMed:PMID17204122 | DOI:10.1111/j.1463-5224.2007.00482.x — OMIA Phene_Article / Article - 2019. The use of hyaluronic acid subdermal filler for entropion in canines and felines: 40 cases. Vet Ophthalmol — PubMed:PMID29520917 | DOI:10.1111/vop.12566 — OMIA Phene_Article / Article - 2017. Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID29284193 | DOI:10.1111/vop.12542 — OMIA Phene_Article / Article - 2023. Novel findings on the anatomy of medial canthus in dogs. Vet Ophthalmol — PubMed:PMID36847328 | DOI:10.1111/vop.13072 — OMIA Phene_Article / Article - 2023. A combination of modified Kuhnt-Szymanowski and Celsus-Hotz techniques for correction of entropion and overlong lower eyelids in dogs (40 eyes). Vet Ophthalmol — PubMed:PMID36948518 | DOI:10.1111/vop.13084 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Entropion - the most common condition in shar pei dogs. Vet Rec — PubMed:PMID38180193 | DOI:10.1002/vetr.3803 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1990. Bilateral congenital entropion in a female Karabas dog. Praktische Tierarzt — OMIA Phene_Article / Article - 1995. Ectropion and entropion in the Shar Pei [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1999. Brow suspension for treatment of ptosis and entropion in dogs with redundant facial skin folds. Journal of the American Veterinary Medical Association — PubMed:PMID10088013 — OMIA Phene_Article / Article - 2015. A retrospective survey of ocular abnormalities in pugs: 130 cases. J Small Anim Pract — PubMed:PMID25370448 | DOI:10.1111/jsap.12291 — OMIA Phene_Article / Article - 2016. Epidemiology of ocular disorders presumed to be inherited in three large Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID27860098 | DOI:10.1111/vop.12442 — OMIA Phene_Article / Article - 2007. Entropion correction in dogs and cats using a combination Hotz-Celsus and lateral eyelid wedge resection: results in 311 eyes. Vet Ophthalmol — PubMed:PMID17204122 | DOI:10.1111/j.1463-5224.2007.00482.x — OMIA Phene_Article / Article - 2019. The use of hyaluronic acid subdermal filler for entropion in canines and felines: 40 cases. Vet Ophthalmol — PubMed:PMID29520917 | DOI:10.1111/vop.12566 — OMIA Phene_Article / Article - 2017. Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID29284193 | DOI:10.1111/vop.12542 — OMIA Phene_Article / Article - 2023. Novel findings on the anatomy of medial canthus in dogs. Vet Ophthalmol — PubMed:PMID36847328 | DOI:10.1111/vop.13072 — OMIA Phene_Article / Article - 2023. A combination of modified Kuhnt-Szymanowski and Celsus-Hotz techniques for correction of entropion and overlong lower eyelids in dogs (40 eyes). Vet Ophthalmol — PubMed:PMID36948518 | DOI:10.1111/vop.13084 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Entropion - the most common condition in shar pei dogs. Vet Rec — PubMed:PMID38180193 | DOI:10.1002/vetr.3803 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1990. Bilateral congenital entropion in a female Karabas dog. Praktische Tierarzt — OMIA Phene_Article / Article - 1995. Ectropion and entropion in the Shar Pei [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1999. Brow suspension for treatment of ptosis and entropion in dogs with redundant facial skin folds. Journal of the American Veterinary Medical Association — PubMed:PMID10088013 — OMIA Phene_Article / Article - 2015. A retrospective survey of ocular abnormalities in pugs: 130 cases. J Small Anim Pract — PubMed:PMID25370448 | DOI:10.1111/jsap.12291 — OMIA Phene_Article / Article - 2016. Epidemiology of ocular disorders presumed to be inherited in three large Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID27860098 | DOI:10.1111/vop.12442 — OMIA Phene_Article / Article - 2007. Entropion correction in dogs and cats using a combination Hotz-Celsus and lateral eyelid wedge resection: results in 311 eyes. Vet Ophthalmol — PubMed:PMID17204122 | DOI:10.1111/j.1463-5224.2007.00482.x — OMIA Phene_Article / Article - 2019. The use of hyaluronic acid subdermal filler for entropion in canines and felines: 40 cases. Vet Ophthalmol — PubMed:PMID29520917 | DOI:10.1111/vop.12566 — OMIA Phene_Article / Article - 2017. Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID29284193 | DOI:10.1111/vop.12542 — OMIA Phene_Article / Article - 2023. Novel findings on the anatomy of medial canthus in dogs. Vet Ophthalmol — PubMed:PMID36847328 | DOI:10.1111/vop.13072 — OMIA Phene_Article / Article - 2023. A combination of modified Kuhnt-Szymanowski and Celsus-Hotz techniques for correction of entropion and overlong lower eyelids in dogs (40 eyes). Vet Ophthalmol — PubMed:PMID36948518 | DOI:10.1111/vop.13084 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Entropion - the most common condition in shar pei dogs. Vet Rec — PubMed:PMID38180193 | DOI:10.1002/vetr.3803 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1990. Bilateral congenital entropion in a female Karabas dog. Praktische Tierarzt — OMIA Phene_Article / Article - 1995. Ectropion and entropion in the Shar Pei [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1999. Brow suspension for treatment of ptosis and entropion in dogs with redundant facial skin folds. Journal of the American Veterinary Medical Association — PubMed:PMID10088013 — OMIA Phene_Article / Article - 2015. A retrospective survey of ocular abnormalities in pugs: 130 cases. J Small Anim Pract — PubMed:PMID25370448 | DOI:10.1111/jsap.12291 — OMIA Phene_Article / Article - 2016. Epidemiology of ocular disorders presumed to be inherited in three large Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID27860098 | DOI:10.1111/vop.12442 — OMIA Phene_Article / Article - 2007. Entropion correction in dogs and cats using a combination Hotz-Celsus and lateral eyelid wedge resection: results in 311 eyes. Vet Ophthalmol — PubMed:PMID17204122 | DOI:10.1111/j.1463-5224.2007.00482.x — OMIA Phene_Article / Article - 2019. The use of hyaluronic acid subdermal filler for entropion in canines and felines: 40 cases. Vet Ophthalmol — PubMed:PMID29520917 | DOI:10.1111/vop.12566 — OMIA Phene_Article / Article - 2017. Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID29284193 | DOI:10.1111/vop.12542 — OMIA Phene_Article / Article - 2023. Novel findings on the anatomy of medial canthus in dogs. Vet Ophthalmol — PubMed:PMID36847328 | DOI:10.1111/vop.13072 — OMIA Phene_Article / Article - 2023. A combination of modified Kuhnt-Szymanowski and Celsus-Hotz techniques for correction of entropion and overlong lower eyelids in dogs (40 eyes). Vet Ophthalmol — PubMed:PMID36948518 | DOI:10.1111/vop.13084 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Entropion - the most common condition in shar pei dogs. Vet Rec — PubMed:PMID38180193 | DOI:10.1002/vetr.3803 — OMIA Phene_Article / Article - (6 additional references in OMIA) [101]

Anatolian Shepherd Dog — Malignant hyperthermia (hereditary; OMIA-verified breed predisposition)

Summary: Malignant hyperthermia is a disorder of skeletal muscle characterized by hypercapnea, tachycardia, and hyperthermia in response to a chemical trigger, and can be fatal. It is an autosomal dominant trait caused by a mutation in the skeletal muscle ryanodine receptor. The omia.variant:54 variant has been identified in several breeds. Affected dogs show no clinical signs until exposed to chemical triggers, which are common anesthetic agents. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [102]

Clin feat: MH is a pharmacogenetic clinical syndrome that affects multiple species. Dogs with malignant hyperthermia present as an outwardly healthy dog, but develop hypercapnea, tachycardia, and hyperthermia during general anesthesia. Signs can progress to cardiac dysrhythmia, rhabdomyolysis, renal failure, and death if the anesthetic is not discontinued. Common triggers of clinical signs include volatile inhalants (halothane, isoflurane, desflurane and sevoflurane) and depolarizing muscle relaxants such as succinylcholine (Roberts et al., 2001, Brunson and Hogan, 2004). Treatment involves cessation of the causative anesthetic, supportive care, cooling, and dantrolene administration. Dantrolene is a muscle relaxant that blocks calcium release inside myocytes (Brunson and Hogan, 2004). Unlike affected humans or pigs (Nelson et al., 2002), affected dogs develop signs primarily in response to chemical triggers and exhibit less severe metabolic acidosis and muscle rigidity during a clinical episode (Roberts et al., 2001). Alternative anesthetic protocols for affected dogs can include nitrous oxide, benzodiazepines, phenothiazines, barbiturates, etomidate, propofol, dissociative agents, opioids, nondepolarizing neuromuscular blockers, or a combination of intravenous and local or regional anesthesia. Sufficient premedication is important, since stress can be a contributing factor to development of clinical signs (Brunson and Hogan, 2004). [102]

Pathology: A missense mutation in the RYR1 gene causes the function alteration in the ryanodine receptors (a part of the calcium releasing channel in skeletal muscle) in affected dogs and leads to defects in the calcium release channel located in the sarcoplasmic reticulum (Roberts et al., 2001). The calcium channels present prolonged opening when being stimulated by the triggering factors (such as certain general anaesthesia agents). This increases muscle contraction and muscle metabolism, resulting in hyperthermia (Brunson and Hogan, 2004), and eventually can lead to a life-threatening hypermetabolic state (the MH episodes). [102]

Prevalence: Although prevalence is thought to be low, it is difficult to estimate because affected dogs appear normal unless they are exposed to a trigger, and some may die before diagnosis is achieved. [102]

Appenzeller Sennenhund — Many alias names exist for the phenotype. They include congenital cornification disorder; CHILD nevi; CHILD-like nevi; ILVEN. The human phenotype resulting from NSDHL loss-of-function variants is termed congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). CHILD syndrome is characterized by epidermal nevi and striking unilateral limb defects. Animals (dogs, cats, mice) with NSDHL variants have similar epidermal nevi, but so far were never reported to also have the limb defects seen in human CHILD syndrome. (hereditary; OMIA-verified breed predisposition)

Breed: Appenzeller Sennenhund (Dog) [103]

Disorder: Many alias names exist for the phenotype. They include congenital cornification disorder; CHILD nevi; CHILD-like nevi; ILVEN. The human phenotype resulting from NSDHL loss-of-function variants is termed congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). CHILD syndrome is characterized by epidermal nevi and striking unilateral limb defects. Animals (dogs, cats, mice) with NSDHL variants have similar epidermal nevi, but so far were never reported to also have the limb defects seen in human CHILD syndrome. [103]

Mode of inheritance: X-linked incomplete dominant [103]

Summary: De Lucia et al. (2019): Veterinary clinicians should be aware of cutaneous mosaicism and consider X-linked genodermatoses when seeing female cases with segmental cutaneous diseases like the one following the Blaschko’s lines. [103]

Clin feat: Bauer et al. (2017):No abnormalities were found on the affected daughter during general physical examination except a stunted growth. Linear hyperplastic and partially alopecic lesions, covered with thick brown scales and clusters of dilated follicular ostia were the most prominent dermatological features (Figure 1). The lesions were distributed along Blaschko’s lines in a bilateral rather symmetrical fashion and were more evident on the limbs, the head, the neck and the dorsal trunk. The abdominal and inguinal skin appeared normal. Frond like hyperkeratotic lesions at the margin of all the pawpads with occasional horn-like projections were considered the most probable cause of the visible lameness. Cytological examination of the linear hyperplastic lesions, revealed the presence of variable numbers of coccoid bacteria and a large number of Malassezia yeasts which were suspected to substantially contribute to the pruritus and the offensive odor. Results of the blood tests and urinalysis were unremarkable. De Lucia et al. (2019): Alopecic scaly plaques following the Blaschko’s lines on the limbs, the head, the dorsal neck and the trunk, and severe foot pads hyperkeratosis were the most relevant lesions [103]

Pathology: Bauer et al. (2017):The histopathological findings were identical in all biopsies.... Multifocally, the epidermis and the wall of the hair follicular infundibuli were moderately to severely hyperplastic with abrupt transition to normal skin. Within the hyperplastic area the infundibular epithelium was covered by thick layers of densely packed parakeratotickeratin which was distending the infundibuli. The parakeratotic keratin was often protruding above the epidermal surface. The size of the keratohyalin granules within the granular cell layers of the epidermis and the infundibular wall was within the normal range. Within the parakeratotic keratin, multifocally variable numbers of coccoid bacteria were present and occasionally the lumen of infundibuli contained degenerate neutrophils. Sebaceous glands appeared normal. The interfollicular epidermis was covered by moderate to large amounts of laminar to compact mostly orthokeratotic, but also some parakeratotic keratin. Within the keratin layers of the epidermis multifocally degenerate neutrophils, nuclear debris and small numbers of coccoid bacteria were present. Multifocally exocytosis of neutrophils was seen. Within the superficial dermis there was a mild pigmentary incontinence and a moderate perivascular infiltrate composed of neutrophils, mast cells and fewer lymphocytes. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248422 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bauer et al. (2017):"a deletion spanning 14,399 bp including the last three exons of the NSDHL gene . . . . The formal variant designation is chrX:120,749,179_120,763,577del14,399". Leuthard et al. (2019) detected a heterozygous missense variant in NSDHL in a female affected Chihuahua, c.700G>A or p.Gly234Arg. Christen et al. (2020): "A heterozygous frameshift variant,… Evidence (references) - 1998. A hereditary disorder of cornification and multiple congenital defects in five Rottweiler dogs. Vet Dermatol — PubMed:PMID34644958 | DOI:10.1046/j.1365-3164.1998.00079.x — OMIA Phene_Article / Article - 2008. Cornification defect in the golden retriever: clinical, histopathological, ultrastructural and genetic characterisation. Vet Dermatol — PubMed:PMID18477327 | DOI:10.1111/j.1365-3164.2008.00667.x — OMIA Phene_Article / Article - 2017. A large deletion in the NSDHL gene in Labrador Retrievers with a congenital cornification disorder. G3 (Bethesda) — PubMed:PMID28739597 | DOI:10.1534/g3.117.1124 — OMIA Phene_Article / Article - 2019. X-linked cutaneous mosaicism in a dog. Vet Dermatol — PubMed:PMID31012178 | DOI:10.1111/vde.12748 — OMIA Phene_Article / Article - 2019. A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi. Anim Genet — PubMed:PMID31571289 | DOI:10.1111/age.12862 — OMIA Phene_Article / Article - 2020. NSDHL frameshift deletion in a mixed breed dog with progressive epidermal nevi. Genes (Basel) — PubMed:PMID33143176 | DOI:10.3390/genes11111297 — OMIA Phene_Article / Article - 2021. Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol — PubMed:PMID34796560 | DOI:10.1111/vde.13033 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2024. Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi. Anim Genet — PubMed:PMID38659285 | DOI:10.1111/age.13436 — OMIA Phene_Article / Article - 2026. Development of cost-effective PCR-RFLP methods for screening Mendelian disorders in Chihuahua dogs. F.U. Vet. J. Health Sci. — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:308050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300275 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [103]

Australian Cattle Dog X — Epidermolysis bullosa, junctionalis, LAMA3-related (hereditary; OMIA-verified breed predisposition)

Breed: Australian Cattle Dog X [104]

Clin feat: Herrmann et al. (2021): Five of eight puppies in an Australian cattle dog cross-bred litter showed signs of skin fragility. Three were stillborn and one died at one month of age. The two surviving puppies were presented with blistering skin disease and severe respiratory distress. [104]

Pathology: Herrmann et al. (2021): “Histopathological results revealed subepidermal clefts and electron microscopy confirmed the split in the lamina lucida. Post-mortem examination documented extensive pharyngeal and laryngeal lesions with granulation tissue and fibrinous exudate obscuring the airway.” Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3479814 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Capt et al. (2005) were able to report that "The condition is associated with reduced expression of laminin 5 caused by a homozygous insertion (4818+207ins6.5 kb) of repetitive satellite DNA within intron 35 of the gene (LAMA3) for the laminin alpha3 chain. The intronic mutation interferes … Evidence (references) - 1997. Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa. Vet Dermatol — PubMed:PMID34644840 | DOI:10.1046/j.1365-3164.1997.d01-17.x — OMIA Phene_Article / Article - 1997. Non-lethal junctional epidermolysis bullosa in a dog. British Journal of Dermatology — PubMed:PMID9349347 — OMIA Phene_Article / Article - 2005. Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol — PubMed:PMID15737193 | DOI:10.1111/j.0022-202X.2004.23584.x — OMIA Phene_Article / Article - 2003. Junctional epidermolysis bullosa in the german shorthaired pointer: a spontaneous model for junctional epidermolysis bullosa in man. Bull Acad Vet France — OMIA Phene_Article / Article - 2021. Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement. Vet Dermatol — PubMed:PMID34250689 | DOI:10.1111/vde.12972 — OMIA Phene_Article / Article - 2021. Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy. Vet Rec Open — PubMed:PMID34457315 | DOI:10.1002/vro2.15 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2022. Inheritance of monogenic hereditary skin disease and related canine breeds. Vet Sci — PubMed:PMID36006348 | DOI:10.3390/vetsci9080433 — OMIA Phene_Article / Article - 2010. Prevalence of inherited junctional epidermolysis bullosa in German shorthaired pointers bred in Italy. Vet Rec — PubMed:PMID21257512 | DOI:10.1136/vr.c5178 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600805 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:245660 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [104]

Australian Cattle Dog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Australian Cattle Dog (Dog) [68]

Australian Cattle Dog — Coat colour, roan (hereditary; OMIA-verified breed predisposition)

Summary: see also: OMIA 002264-9615: Coat colour, ticked in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253552 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1957. The Inheritance of Coat Color in Dogs. Comstock Publishing Associates, Cornell University Press, Ithaca, NY — OMIA Phene_Article / Article - 2021. Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38. Anim Genet — PubMed:PMID33539602 | DOI:10.1111/age.13040 — OMIA Phene_Article / Article - 2021. R-locus for roaned coat is associated with a tandem duplication in an intronic region of USH2A in dogs and also contributes to Dalmatian spotting. PLoS One — PubMed:PMID33755696 | DOI:10.1371/journal.pone.0248233 — OMIA Phene_Article / Article - 2010. Ticking and roan in the canine are controlled by the same novel region. Fifth International Conference on Advances in Canine and Feline Genomics and Inherited Disease 23-25 Sept. Baltimore — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:184745 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611664 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [105]

Australian Cattle Dog — Congenital sensorineural deafness (hereditary; OMIA-verified breed predisposition)

Disorder: Congenital sensorineural deafness [106]

Summary: This entry focuses on congenital sensorineural deafness for which likely causal variants have so far not been identified. Several other forms of deafness in dogs have a Mendelian mode of inheritance and likely causal variants have been identified, some examples include '[OMIA:002550-9615]: Deafness, EPS8L2-related'; '[OMIA:002336-9615]: Deafness, LOXHD1-related'; '[OMIA:002326-9615]: Deafness, KLF7-related'; '[OMIA:002148-9615]: Deafness, bilateral, and vestibular dysfunction'; '[OMIA:002196-9615]: Deafness, unilateral and vestibular dysfunction'. A separate entry provides information for deafness with adult onset: '[OMIA:001727-9615]: Deafness, adult-onset'. [106]

Prevalence: Lewis et al. (2020): A total of 8955 Dalmatian puppies undergoing hearing function screening using brainstem auditory evoked response (BAER) between July 1992 and February 2019.... The overall prevalence of CSD was 17.8% (13.4%, unilateral; 4.4%, bilateral). Marsh et al. (2021) reported that overall CSD [congenital sensorineural deafness] prevalence in the ACD [Australian cattle dog] population in the UK was 11.4%, and puppies with a face patch were at reduced risk of the condition. [106]

Control: Lewis et al. (2020): A decrease in the prevalence and genetic risk of CSD implies breeders have been selecting for hearing dogs. Selective breeding based on estimated breeding values (EBVs) can help further decrease the prevalence of CSD in Dalmatians in the future. Haase et al. (2022): While many questions remain, we believe that results from this study open the door for genetic testing. In combination with currently applied selection criteria for breeding animals, selecting animals with the protective MITF haplotype will assist with reducing the number of deaf Dalmatians. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: CSD (no structured Phene_Gene link) Evidence (references) - 1967. Colour dilution and hereditary defects in Collie dogs. American Journal of Ophthalmology — PubMed:PMID4961230 — OMIA Phene_Article / Article - 1924. Congenital deafness in a white bull terrier puppy. Journal of Laryngology and Otology — OMIA Phene_Article / Article - 1981. Multiple ocular defects associated with partial albinism and deafness in the dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1956. Hereditary deafness in a family of Foxhounds. Journal of the American Veterinary Medical Association — PubMed:PMID13295142 — OMIA Phene_Article / Article - 1933. Congenital deafness in dogs. Our Dog — OMIA Phene_Article / Article - 1991. Congenital Deafness in Dogs and Cats. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1992. Brainstem Auditory-Evoked Potential Assessment of Congenital Deafness in Dalmatians - Associations with Phenotypic Markers. Journal of Veterinary Internal Medicine — PubMed:PMID1619594 — OMIA Phene_Article / Article - 1992. Unilateral and Bilateral Brainstem Auditory-Evoked Response Abnormalities in 900 Dalmatian Dogs. Journal of Veterinary Internal Medicine — PubMed:PMID1619593 — OMIA Phene_Article / Article - 1994. Deafness in Dalmatians and Other Breeds. Veterinary Record — PubMed:PMID8171802 — OMIA Phene_Article / Article - 1994. Inherited deafness among nervous Pointer dogs. J Hered — PubMed:PMID8120360 — OMIA Phene_Article / Article - 1994. Hereditary Deafness in the Dalmatian - Relationship to Eye and Coat Color. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1996. Aetiology, prevalence and diagnosis of deafness in dogs and cats [Review]. Br Vet J — PubMed:PMID8634862 | DOI:10.1016/s0007-1935(96)80083-2 — OMIA Phene_Article / Article - (45 additional references in OMIA) [106]

Australian Cattle Dog — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)

Disorder: Cystine urolithiasis [107]

Clin feat: As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≥3,000 in heterozygotes. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403700 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Using the direct candidate gene strategy, based on clinical signs, Brons et al. (2013) identified "in-frame 6 bp deletion removing 2 of the 3 adjacent threonine residues in exon 6 of the SLC3A1 gene" (c.1095_1100del; p.Thr366_Thr367del) as causal in Australian Cattle Dogs. Evidence (references) - 2013. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med — PubMed:PMID24001348 | DOI:10.1111/jvim.12176 — OMIA Phene_Article / Article - 2021. Cystinuria in dogs and cats: What do we know after almost 200 years?. Animals (Basel) — PubMed:PMID34438894 | DOI:10.3390/ani11082437 — OMIA Phene_Article / Article - 2015. Urolithiasis. Vet Clin North Am Small Anim Pract — PubMed:PMID26002797 | DOI:10.1016/j.cvsm.2015.03.001 — OMIA Phene_Article / Article - 2025. Epidemiological evaluation of neuter status, sex, and breed in dogs with cystine uroliths. J Vet Intern Med — PubMed:PMID40298126 | DOI:10.1111/jvim.70110 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:220100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104614 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [107]

Australian Cattle Dog — Neuronal ceroid lipofuscinosis, 12 (hereditary; OMIA-verified breed predisposition)

Clin feat: Behavioral signs usually appear around 4 to 6 years of age (Katz et al., 2005, Katz et al., 2007, Farias et al., 2011). Signs include behavioral changes, cognitive decline, cerebellar ataxia, dementia, seizures, nervousness, aggressiveness, loss of training, hypersensitivity to stimuli, loss of coordination, tremors, retinal degeneration, depressed rod function, some impairment of cone function, moderate visual impairment in low light, but good visual acuity in bright light. [108]

Pathology: There is widespread accumulation of autofluorescent lysosomal storage material throughout the cerebral cortex, retina, and cerebellum. Stored material appears as stacks of membranes in whorls or parallel arrays, or coarsely granular and lipid-like substances. Components of this material include glial fibrillary acidic protein (GFAP), and histone H4 (Katz et al., 2007). [108]

Prevalence: As NCL is rare in other breeds, it is more common by comparison in the Tibetan terrier, which is likely due to the relatively small breeding population and adult onset of signs (Katz et al., 2005). Schmutz et al. (2019) genotyped the [c.1118C>T] variant in a cohort of 397 Australian Cattle Dogs, which included the 3 known cases, dog D, 26 unaffected Australian Cattle Dogs older than 6 years of age and 367 population controls. This revealed a perfect association of the genotypes with the phenotype (Table 2). All three affected dogs carried the variant in homozygous state. Dog D, the sire of the two affected dogs was heterozygous (obligate carrier). Among the other 393 Australian Cattle dogs, we observed 352 dogs that were homozygous wildtype and 41 dogs that were heterozygous and presumably carriers for the disease. These data indicate that among the Australian Cattle Dogs that were sampled, the carrier frequency is around 10%. Because of sampling bias in our population, the carrier frequency among all Australian Cattle Dogs may be different. We also genotyped 555 dogs from genetically diverse breeds. None of these dogs carried the ATP13A2:c.1118C > T variant. [108]

Gen test: There is a test available. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389416873 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing the likely positional candidate gene mentioned in the Mapping section (above), Farias et al (2011) identified the causative mutation as a single base deletion in ATP13A2, namely "c.1,623delG, which predicted a frame shift and premature termination codon (p.P541fsX597)". Later that same year, Wöhlke et al. (2011) confirmed the same mutation, but called it c.1620delG, and stated that i… Evidence (references) - 1992. Tibetan Terrier Model of Canine Ceroid Lipofuscinosis. American Journal of Medical Genetics — PubMed:PMID1609844 | DOI:10.1002/ajmg.1320420437 — OMIA Phene_Article / Article - 2005. Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs. Anim Genet — PubMed:PMID15771740 | DOI:10.1111/j.1365-2052.2005.01254.x — OMIA Phene_Article / Article - 2005. Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. Am J Vet Res — PubMed:PMID15691038 | DOI:10.2460/ajvr.2005.66.67 — OMIA Phene_Article / Article - 2007. Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis. J Inherit Metab Dis — PubMed:PMID18004671 | DOI:10.1007/s10545-007-0683-y — OMIA Phene_Article / Article - 2011. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis — PubMed:PMID21362476 | DOI:10.1016/j.nbd.2011.02.009 — OMIA Phene_Article / Article - 1992. Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies. Acta Neuropathol — PubMed:PMID1471473 — OMIA Phene_Article / Article - 2011. A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet — PubMed:PMID22022275 | DOI:10.1371/journal.pgen.1002304 — OMIA Phene_Article / Article - 2002. Assessment of plasma carnitine concentrations in relation to ceroid lipofuscinosis in Tibetan Terriers. Am J Vet Res — PubMed:PMID12061538 | DOI:10.2460/ajvr.2002.63.890 — OMIA Phene_Article / Article - 2017. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis — PubMed:PMID28860089 | DOI:10.1016/j.nbd.2017.08.017 — OMIA Phene_Article / Article - 2019. ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab — PubMed:PMID30956123 | DOI:10.1016/j.ymgme.2018.11.015 — OMIA Phene_Article / Article - 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article - 2021. International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med — PubMed:PMID33769611 | DOI:10.1111/jvim.16108 — OMIA Phene_Article / Article - (2 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:606693 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617225 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610513 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [108]

Australian Cattle Dog — Neuronal ceroid lipofuscinosis, 5 (hereditary; OMIA-verified breed predisposition)

Clin feat: Dogs present at 18-24 months of age with progressive behavioral changes, hyperactivity, dementia, aggression, loss of coordination, ataxia, delayed postural responses, blindness, and slow pupillary light responses (Taylor et al., 1988, Melville et al., 2005). Blind affected dogs have normal retinal structure on fundic and light microscopic examination, but have severe ultrastructural lesions (Taylor et al., 1988). Changes observed by MRI include slightly dilated cerebral sulci and cerebellar fissures, and left ventricular enlargement (Koie et al., 2004). [109]

Prevalence: The frequency of the c.619C>T allele is estimated at 3.5% in the Border collie population of Australia (Melville et al., 2005). Mizukami et al. (2016) reported the frequency of the c.619C>T allele as 0.035 in 500 Border collies in Japan. Villani et al. (2019) reported the c.619C>T variant to be homozygous in an affected mixed-breed dog of unknown parentage. They also reported a 87kb haplotype including the variant that is shared by this affected dog and the breeds in which this variant has been previously reported. Villani et al. (2019) concluded that the NCL in all of these dogs stems from the same founding mutation event that may have predated the establishment of the modern dog breeds. If so, the CLN5 nonsence allele is probably segregating in other, as yet unidentified, breeds. Thus, dogs exhibiting similar NCL-like signs should be screened for this CLN5 nonsense allele regardless of breed. [109]

Australian Cattle Dog — Osteochondritis dissecans (hereditary; OMIA-verified breed predisposition)

Clin feat: Clinical features of OCD include lameness, lameness worsened during exercise, stiffness and pain in affected joints, decreased activity levels, loss of muscle mass in affected limbs, and possible crepitus (Everts et al., 2000; van der Peijl et al. 2012; Biezyński et al., 2012; Wall et al., 2014; Murphy et al., 2019; Vezzoni and Benjamino, 2021). [110]

Pathology: Pathological features of OCD that can be diagnosed via X-ray include bone loss, fragmented and calcified cartilage (joint mice), ossified cartilage flaps, widening of the articular space, visible osteophytes, and possible osteoarthritis (van der Peijl et al. 2012; Biezyński et al., 2012; Wall et al., 2014; Vezzoni and Benjamino, 2021). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1991. Osteochondritis dissecans in Labradors.. Vet Rec — PubMed:PMID2031301 | DOI:10.1136/vr.128.8.192 — OMIA Phene_Article / Article - 1993. The diagnostic procedures and therapy for OCD of the hindlimbs.. Veterinary Medicine — OMIA Phene_Article / Article - 1993. OCD of the humeral head - Its diagnosis and treatment.. Veterinary Medicine — OMIA Phene_Article / Article - 1993. Therapeutic approaches to osteochondritis dissecans and fragmented coronoid process.. Tijdschr Diergeneeskd — PubMed:PMID8378920 — OMIA Phene_Article / Article - 1994. Osteochondritis dissecans of the canine tarsal joint.. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1995. The inheritance of osteochondritis dissecans and fragmented coronoid process of the elbow joint in Labrador retrievers. J Am Anim Hosp Assoc — PubMed:PMID7552666 | DOI:10.5326/15473317-31-4-327 — OMIA Phene_Article / Article - 1995. Mineralized osteochondritis dissecans cartilage flap mimicking supraspinatus tendon mineralization. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1995. A comparison of surgical and medical treatment of fragmented coronoid process and osteochondritis dissecans of the canine elbow. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1996. A histological examination about cartilage channels in the epiphyseal cartilage of young dogs and their relationship to the localisations, that are generally affected by osteochondrosis dissecans [German]. Deutsche Tierarztliche Wochenschrift — PubMed:PMID8964237 — OMIA Phene_Article / Article - 1997. Arthroscopic examination and treatment of osteochondritis dissecans of the femoral condyle of six dogs. Journal of the American Animal Hospital Association — PubMed:PMID9278122 — OMIA Phene_Article / Article - 1998. Osteochondritis dissecans of the humeral head.. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1999. Bone dysplasias in the Labrador retriever: A radiographic study. Journal of the American Animal Hospital Association — PubMed:PMID10416779 — OMIA Phene_Article / Article - (15 additional references in OMIA) - 1991. Osteochondritis dissecans in Labradors. Vet Rec — PubMed:PMID2031301 | DOI:10.1136/vr.128.8.192 — OMIA Phene_Article / Article - 1993. The diagnostic procedures and therapy for OCD of the hindlimbs. Veterinary Medicine — OMIA Phene_Article / Article - 1993. OCD of the humeral head - Its diagnosis and treatment. Veterinary Medicine — OMIA Phene_Article / Article - 1993. Therapeutic approaches to osteochondritis dissecans and fragmented coronoid process. Tijdschr Diergeneeskd — PubMed:PMID8378920 — OMIA Phene_Article / Article - 1994. Osteochondritis dissecans of the canine tarsal joint. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1995. The inheritance of osteochondritis dissecans and fragmented coronoid process of the elbow joint in Labrador retrievers. J Am Anim Hosp Assoc — PubMed:PMID7552666 | DOI:10.5326/15473317-31-4-327 — OMIA Phene_Article / Article - 1995. Mineralized osteochondritis dissecans cartilage flap mimicking supraspinatus tendon mineralization. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1995. A comparison of surgical and medical treatment of fragmented coronoid process and osteochondritis dissecans of the canine elbow. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1996. A histological examination about cartilage channels in the epiphyseal cartilage of young dogs and their relationship to the localisations, that are generally affected by osteochondrosis dissecans [German]. Deutsche Tierarztliche Wochenschrift — PubMed:PMID8964237 — OMIA Phene_Article / Article - 1997. Arthroscopic examination and treatment of osteochondritis dissecans of the femoral condyle of six dogs. Journal of the American Animal Hospital Association — PubMed:PMID9278122 — OMIA Phene_Article / Article - 1998. Osteochondritis dissecans of the humeral head. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1999. Bone dysplasias in the Labrador retriever: A radiographic study. Journal of the American Animal Hospital Association — PubMed:PMID10416779 — OMIA Phene_Article / Article - (15 additional references in OMIA) - 1991. Osteochondritis dissecans in Labradors. Vet Rec — PubMed:PMID2031301 | DOI:10.1136/vr.128.8.192 — OMIA Phene_Article / Article - 1993. The diagnostic procedures and therapy for OCD of the hindlimbs. Veterinary Medicine — OMIA Phene_Article / Article - 1993. OCD of the humeral head - Its diagnosis and treatment. Veterinary Medicine — OMIA Phene_Article / Article - 1993. Therapeutic approaches to osteochondritis dissecans and fragmented coronoid process. Tijdschr Diergeneeskd — PubMed:PMID8378920 — OMIA Phene_Article / Article - 1994. Osteochondritis dissecans of the canine tarsal joint. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1995. The inheritance of osteochondritis dissecans and fragmented coronoid process of the elbow joint in Labrador retrievers. J Am Anim Hosp Assoc — PubMed:PMID7552666 | DOI:10.5326/15473317-31-4-327 — OMIA Phene_Article / Article - 1995. Mineralized osteochondritis dissecans cartilage flap mimicking supraspinatus tendon mineralization. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1995. A comparison of surgical and medical treatment of fragmented coronoid process and osteochondritis dissecans of the canine elbow. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1996. A histological examination about cartilage channels in the epiphyseal cartilage of young dogs and their relationship to the localisations, that are generally affected by osteochondrosis dissecans [German]. Deutsche Tierarztliche Wochenschrift — PubMed:PMID8964237 — OMIA Phene_Article / Article - 1997. Arthroscopic examination and treatment of osteochondritis dissecans of the femoral condyle of six dogs. Journal of the American Animal Hospital Association — PubMed:PMID9278122 — OMIA Phene_Article / Article - 1998. Osteochondritis dissecans of the humeral head. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1999. Bone dysplasias in the Labrador retriever: A radiographic study. Journal of the American Animal Hospital Association — PubMed:PMID10416779 — OMIA Phene_Article / Article - (15 additional references in OMIA) - 1991. Osteochondritis dissecans in Labradors. Vet Rec — PubMed:PMID2031301 | DOI:10.1136/vr.128.8.192 — OMIA Phene_Article / Article - 1993. The diagnostic procedures and therapy for OCD of the hindlimbs. Veterinary Medicine — OMIA Phene_Article / Article - 1993. OCD of the humeral head - Its diagnosis and treatment. Veterinary Medicine — OMIA Phene_Article / Article - 1993. Therapeutic approaches to osteochondritis dissecans and fragmented coronoid process. Tijdschr Diergeneeskd — PubMed:PMID8378920 — OMIA Phene_Article / Article - 1994. Osteochondritis dissecans of the canine tarsal joint. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1995. The inheritance of osteochondritis dissecans and fragmented coronoid process of the elbow joint in Labrador retrievers. J Am Anim Hosp Assoc — PubMed:PMID7552666 | DOI:10.5326/15473317-31-4-327 — OMIA Phene_Article / Article - 1995. Mineralized osteochondritis dissecans cartilage flap mimicking supraspinatus tendon mineralization. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1995. A comparison of surgical and medical treatment of fragmented coronoid process and osteochondritis dissecans of the canine elbow. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1996. A histological examination about cartilage channels in the epiphyseal cartilage of young dogs and their relationship to the localisations, that are generally affected by osteochondrosis dissecans [German]. Deutsche Tierarztliche Wochenschrift — PubMed:PMID8964237 — OMIA Phene_Article / Article - 1997. Arthroscopic examination and treatment of osteochondritis dissecans of the femoral condyle of six dogs. Journal of the American Animal Hospital Association — PubMed:PMID9278122 — OMIA Phene_Article / Article - 1998. Osteochondritis dissecans of the humeral head. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1999. Bone dysplasias in the Labrador retriever: A radiographic study. Journal of the American Animal Hospital Association — PubMed:PMID10416779 — OMIA Phene_Article / Article - (15 additional references in OMIA) - 1991. Osteochondritis dissecans in Labradors. Vet Rec — PubMed:PMID2031301 | DOI:10.1136/vr.128.8.192 — OMIA Phene_Article / Article - 1993. The diagnostic procedures and therapy for OCD of the hindlimbs. Veterinary Medicine — OMIA Phene_Article / Article - 1993. OCD of the humeral head - Its diagnosis and treatment. Veterinary Medicine — OMIA Phene_Article / Article - 1993. Therapeutic approaches to osteochondritis dissecans and fragmented coronoid process. Tijdschr Diergeneeskd — PubMed:PMID8378920 — OMIA Phene_Article / Article - 1994. Osteochondritis dissecans of the canine tarsal joint. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1995. The inheritance of osteochondritis dissecans and fragmented coronoid process of the elbow joint in Labrador retrievers. J Am Anim Hosp Assoc — PubMed:PMID7552666 | DOI:10.5326/15473317-31-4-327 — OMIA Phene_Article / Article - 1995. Mineralized osteochondritis dissecans cartilage flap mimicking supraspinatus tendon mineralization. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1995. A comparison of surgical and medical treatment of fragmented coronoid process and osteochondritis dissecans of the canine elbow. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1996. A histological examination about cartilage channels in the epiphyseal cartilage of young dogs and their relationship to the localisations, that are generally affected by osteochondrosis dissecans [German]. Deutsche Tierarztliche Wochenschrift — PubMed:PMID8964237 — OMIA Phene_Article / Article - 1997. Arthroscopic examination and treatment of osteochondritis dissecans of the femoral condyle of six dogs. Journal of the American Animal Hospital Association — PubMed:PMID9278122 — OMIA Phene_Article / Article - 1998. Osteochondritis dissecans of the humeral head. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1999. Bone dysplasias in the Labrador retriever: A radiographic study. Journal of the American Animal Hospital Association — PubMed:PMID10416779 — OMIA Phene_Article / Article - (15 additional references in OMIA) [110]

Australian Cattle Dog — Stomatocytosis (hereditary; OMIA-verified breed predisposition)

Summary: see also [OMIA:001178-9615]: Stomatocytosis and gastritis in Canis lupus familiaris (dog) and [OMIA:000300-9615]: Dwarfism with anaemia in Canis lupus familiaris (dog) for other forms of stomatocytosis. [111]

Clin feat: Castillo and Williams (2021) report asymptomatic decrease in red blood cells with various morphological changes of the red blood cells (stomatocytes, knizocytes, mild anisocytosis, mild macrocytosis, and mild polychromasia) in a a Beagle and Australian Cattle Dog. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA molecular-genetics note: Wallace et al. (2025) conducted whole genome sequencing of an affected Beagle and Australian Cattle Dog: "Genetic variants identified in stomatocytosis cases were compared to WGS variant call sets (CanFam3.1) of 119 control dogs and > 1,000 dogs from public and private datasets ... . ... Cases did not carry coding variants consistent with single-variant monogenic inheritance in genes linked to … Evidence (references) - 2025. Whole genome sequencing identifies novel candidate genetic variants in canine stomatocytosis. Gene — PubMed:PMID39929273 | DOI:10.1016/j.gene.2025.149314 — OMIA Phene_Article / Article - 1982. Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings. Am J Pathol — PubMed:PMID7065114 — OMIA Phene_Article / Article - 2004. Stomatocytosis in 7 related Standard Schnauzers. Vet Clin Pathol — PubMed:PMID15570561 | DOI:10.1111/j.1939-165x.2004.tb00379.x — OMIA Phene_Article / Article - 2012. Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease. Blood Cells Mol Dis — PubMed:PMID22406315 | DOI:10.1016/j.bcmd.2012.02.003 — OMIA Phene_Article / Article - 2021. Stomatocytosis in a Beagle and Australian Cattle Dog. Vet Clin Pathol — PubMed:PMID34628677 | DOI:10.1111/vcp.13001 — OMIA Phene_Article / Article [111]

Australian Cattle Dog — X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy (hereditary; OMIA-verified breed predisposition)

Disorder: X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy [112]

Summary: Also known as Golden Retriever Muscular Dystrophy (GRMD), because this is the breed in which this disorder was first documented. This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT. All known canine DMD variants that cause Duchenne or Becker like muscular dystrophy are listed in this entry. This phene includes references to studies involving genetically modified organisms (GMO). [112]

Clin feat: Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (“bunny hopping”), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002). [112]

Pathology: Clinical signs are caused by the absence of dystrophin protein. Affected animals initially have sarcolemma dysfunction, which results in an increased intracellular calcium and muscle fiber hypercontraction. These are followed by muscle fiber degeneration and necrosis, with some regeneration (Howell et al., 1997). Eventually, muscle fibrosis, mineralization and fat infiltration occur in both skeletal and cardiac muscle. Lesions in cardiac muscle, which are analogous but can be less severe, are usually in the ventricles, and usually occur after 6 months of age (Howell et al., 1997). [112]

Control: Female relatives of affected dogs should be tested to identify carriers. Breeding of affected or carrier animals should be avoided. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 606758 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: All causative mutations occur within the dystrophin gene, although the molecular basis of the dystrophin mutation may be different between breeds. In the Golden Retriever, there is a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene (omia.variant:366), such that exon 7 is skipped during mRNA processing. The amino acid frame shift causes premature termination… Evidence (references) - 1988. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature — PubMed:PMID3290691 | DOI:10.1038/334154a0 — OMIA Phene_Article / Article - 1988. Canine X-Linked Muscular Dystrophy - An Animal Model of Duchenne Muscular Dystrophy - Clinical Studies. Journal of the Neurological Sciences — PubMed:PMID3225630 — OMIA Phene_Article / Article - 1990. Canine X-Linked Muscular Dystrophy - Morphologic Lesions. Journal of the Neurological Sciences — PubMed:PMID2370557 — OMIA Phene_Article / Article - 1992. An Error in Dystrophin Messenger RNA Processing in Golden Retriever Muscular Dystrophy, an Animal Homologue of Duchenne Muscular Dystrophy. Genomics — PubMed:PMID1577476 — OMIA Phene_Article / Article - 1992. Canine X-Linked Muscular Dystrophy as an Animal Model of Duchenne Muscular Dystrophy - A Review. American Journal of Medical Genetics — PubMed:PMID1536178 | DOI:10.1002/ajmg.1320420320 — OMIA Phene_Article / Article - 1992. The xmd Dog - Molecular and Phenotypic Characteristics. Duchenne Muscular Dystrophy — OMIA Phene_Article / Article - 1992. Exon Skipping During Dystrophin Messenger RNA Processing in the Canine Homologue of Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy — OMIA Phene_Article / Article - 1992. Potential Strategies for Gene Therapy in Golden Retriever Muscular Dystrophy. Duchenne Muscular Dystrophy — OMIA Phene_Article / Article - 1993. Canine X-Linked Muscular Dystrophy in Belgian Groenendaeler Shepherds. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1995. Canine X-linked muscular dystrophy in Belgian Groenendaeler shepherds. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1995. Stable fetal cardiomyocyte grafts in the hearts of dystrophic mice and dogs. Journal of Clinical Investigation — PubMed:PMID7560097 | DOI:10.1172/JCI118251 — OMIA Phene_Article / Article - 1995. Congenital dystrophy-like myopathy in a brittany spaniel puppy. Progress in Veterinary Neurology — OMIA Phene_Article / Article - (195 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:310200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300377 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [112]

Australian Cattle Dog — canine spongiform leukoencephalomyelopathy; leucodystrophy; Shetland Sheepdog leukodystrophy (hereditary; OMIA-verified breed predisposition)

Disorder: canine spongiform leukoencephalomyelopathy; leucodystrophy; Shetland Sheepdog leukodystrophy [113]

Mode of inheritance: Mitochondrial [113]

Clin feat: Li et al. (2006): most affected [Australian cattle] dogs showed a moderate to severe generalized whole body tremor at 3–4 weeks of age. However, one affected pup in the third litter did not develop obvious neurological signs until 9 weeks of age. The tremor and dysmetric gait were typical of cerebellar involvement. All pups were initially able to ambulate but became progressively more ataxic over the next several weeks. Interestingly, each pup had a slightly different phenotypic expression of its disease, along with variability in the rapidity of disease progression. With time, the pups failed to grow, showed spasticity in all four limbs, and had an inability to ambulate with eventual lateral recumbency.. Vision and audition remained intact as did nociception. Electrophysiological testing of CNS function showed abnormal brainstem auditory evoked responses with conduction delay, which was also seen in studies of conduction in the spinal cord... Affected [Shetland sheepdog] pups were smaller than normal littermates. The neurologic defects were variable, ranging from mild to severe and consisted of tremor, ataxia, paresis, rigidity and spasticity, inability to ambulate, dysphagia, and seizures. Clinical signs developed between 7 days and 3 weeks with some pups dying by 7 weeks of age. All laboratory blood testing was normal, although a CT scan of one affected pup showed dilation of the lateral and 4th ventricles and diffuse hypomyelination of the white matter (Wood and Patterson, 2001). [113]

Pathology: Li et al. (2006): In both breeds, widespread vacuolation of myelin was found in subcortical white matter, cerebellum, brain stem, and spinal cord., while no pathological changes were found in lung, heart, small intestines, jejunum, spleen, liver, and kidney. Axons surrounded by vacuolated myelin appeared intact, and occasional scattered demyelinated axons were noted.. However, some axons appeared to be degenerating., and in severely affected areas, axonal loss and gliosis were seen.. The degree of vacuolation varied from dog to dog in the spinal cord and also varied in its degree and tract location along the cord in the same animal. Occasional areas of normal myelin were seen.. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: cytB (Entrez Gene ID 26753425) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Li et al. (2006) showed that this disorder is due to a missense variant in the mitochondrial gene for cytochrome b. The variant is a G>A transition as position 14,474 of the mitochondrial genome (NC_002008) predicted to result is a p.V98M substitution on the protein level. This is the first report in domesticated animals of a naturally-occurring base substitution in a mitochondrial gene, leading t… Evidence (references) - 2001. Shetland Sheepdog leukodystrophy. Journal of Veterinary Internal Medicine — PubMed:PMID11596738 — OMIA Phene_Article / Article - 2006. Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. Neurobiol Dis — PubMed:PMID16026996 | DOI:10.1016/j.nbd.2005.06.009 — OMIA Phene_Article / Article - 2022. Mitochondrial DNA alterations in the domestic dog (Canis lupus familiaris) and their association with development of diseases: A review. Mitochondrion — PubMed:PMID35134592 | DOI:10.1016/j.mito.2022.02.001 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article [113]

Australian Kelpie — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Australian Kelpie (Dog) [69]

Australian Kelpie — Lipid malabsorption, ACSL5-related (hereditary; OMIA-verified breed predisposition)

Clin feat: O'Brien et al. (2020): In an Australian Kelpie breeding population, 17 puppies presented with intestinal lipid malabsorption. Juvenile dogs exhibited stunted postnatal growth, steatorrhea, abdominal distension and a wiry coat. [114]

Pathology: O'Brien et al. (2020): Histological examination of the small intestine showed evidence of mild non-specific chronic enteritis including focal ileal ulceration, rare crypt abscesses in the ileum and colon, and possible crypt fusion in the jejunum. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388245967 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: O'Brien et al. (2020): "A 103.3 kb deletion NC_006610.3CFA28:g.23380074_23483377del, containing genes Acyl-CoA Synthetase Long Chain Family Member 5 (ACSL5) and Zinc Finger DHHC-Type Containing 6 (ZDHHC6), was characterised using whole transcriptomic data." Evidence (references) - 2020. A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed. Sci Rep — PubMed:PMID33106515 | DOI:10.1038/s41598-020-75243-x — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:605677 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [114]

Australian Kelpie — Lissencephaly, generic (hereditary; OMIA-verified breed predisposition)

Summary: See also [OMIA:001867-9615]: Lissencephaly and cerebellar hypoplasia, RELN-related in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1976. Lissencephaly in two Lhasa Apso dogs.. J Am Vet Med Assoc — PubMed:PMID956022 — OMIA Phene_Article / Article - 1976. Lissencephaly in Lhasa Apso dogs.. J Am Vet Med Assoc — PubMed:PMID1033927 — OMIA Phene_Article / Article - 2011. Clinical and MRI findings of lissencephaly in a mixed breed dog.. J Vet Med Sci — PubMed:PMID21685716 | DOI:10.1292/jvms.11-0117 — OMIA Phene_Article / Article - 2002. Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos.. Vet Radiol Ultrasound — PubMed:PMID12174995 | DOI:10.1111/j.1740-8261.2002.tb01013.x — OMIA Phene_Article / Article - 2016. Lissencephaly in an adult Australian Kelpie.. Aust Vet J — PubMed:PMID27021891 | DOI:10.1111/avj.12423 — OMIA Phene_Article / Article - 2020. Lissencephaly in Shih Tzu dogs.. Acta Vet Scand — PubMed:PMID32563254 | DOI:10.1186/s13028-020-00528-0 — OMIA Phene_Article / Article - 2017. Lissencephaly in a Pekingese.. J Vet Med Sci — PubMed:PMID28819088 | DOI:10.1292/jvms.17-0271 — OMIA Phene_Article / Article - 2009. Development of the Nervous System: Malformations.. Veterinary neuroanatomy and clinical neurology. 3rd edn. Saunders Elsevier, St Louis — OMIA Phene_Article / Article - 1976. Lissencephaly in two Lhasa Apso dogs. J Am Vet Med Assoc — PubMed:PMID956022 — OMIA Phene_Article / Article - 1976. Lissencephaly in Lhasa Apso dogs. J Am Vet Med Assoc — PubMed:PMID1033927 — OMIA Phene_Article / Article - 2011. Clinical and MRI findings of lissencephaly in a mixed breed dog. J Vet Med Sci — PubMed:PMID21685716 | DOI:10.1292/jvms.11-0117 — OMIA Phene_Article / Article - 2002. Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos. Vet Radiol Ultrasound — PubMed:PMID12174995 | DOI:10.1111/j.1740-8261.2002.tb01013.x — OMIA Phene_Article / Article - 2016. Lissencephaly in an adult Australian Kelpie. Aust Vet J — PubMed:PMID27021891 | DOI:10.1111/avj.12423 — OMIA Phene_Article / Article - 2020. Lissencephaly in Shih Tzu dogs. Acta Vet Scand — PubMed:PMID32563254 | DOI:10.1186/s13028-020-00528-0 — OMIA Phene_Article / Article - 2017. Lissencephaly in a Pekingese. J Vet Med Sci — PubMed:PMID28819088 | DOI:10.1292/jvms.17-0271 — OMIA Phene_Article / Article - 2009. Development of the Nervous System: Malformations. Veterinary neuroanatomy and clinical neurology. 3rd edn. Saunders Elsevier, St Louis — OMIA Phene_Article / Article - 1976. Lissencephaly in two Lhasa Apso dogs. J Am Vet Med Assoc — PubMed:PMID956022 — OMIA Phene_Article / Article - 1976. Lissencephaly in Lhasa Apso dogs. J Am Vet Med Assoc — PubMed:PMID1033927 — OMIA Phene_Article / Article - 2011. Clinical and MRI findings of lissencephaly in a mixed breed dog. J Vet Med Sci — PubMed:PMID21685716 | DOI:10.1292/jvms.11-0117 — OMIA Phene_Article / Article - 2002. Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos. Vet Radiol Ultrasound — PubMed:PMID12174995 | DOI:10.1111/j.1740-8261.2002.tb01013.x — OMIA Phene_Article / Article - 2016. Lissencephaly in an adult Australian Kelpie. Aust Vet J — PubMed:PMID27021891 | DOI:10.1111/avj.12423 — OMIA Phene_Article / Article - 2020. Lissencephaly in Shih Tzu dogs. Acta Vet Scand — PubMed:PMID32563254 | DOI:10.1186/s13028-020-00528-0 — OMIA Phene_Article / Article - 2017. Lissencephaly in a Pekingese. J Vet Med Sci — PubMed:PMID28819088 | DOI:10.1292/jvms.17-0271 — OMIA Phene_Article / Article - 2009. Development of the Nervous System: Malformations. Veterinary neuroanatomy and clinical neurology. 3rd edn. Saunders Elsevier, St Louis — OMIA Phene_Article / Article - 1976. Lissencephaly in two Lhasa Apso dogs. J Am Vet Med Assoc — PubMed:PMID956022 — OMIA Phene_Article / Article - 1976. Lissencephaly in Lhasa Apso dogs. J Am Vet Med Assoc — PubMed:PMID1033927 — OMIA Phene_Article / Article - 2011. Clinical and MRI findings of lissencephaly in a mixed breed dog. J Vet Med Sci — PubMed:PMID21685716 | DOI:10.1292/jvms.11-0117 — OMIA Phene_Article / Article - 2002. Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos. Vet Radiol Ultrasound — PubMed:PMID12174995 | DOI:10.1111/j.1740-8261.2002.tb01013.x — OMIA Phene_Article / Article - 2016. Lissencephaly in an adult Australian Kelpie. Aust Vet J — PubMed:PMID27021891 | DOI:10.1111/avj.12423 — OMIA Phene_Article / Article - 2020. Lissencephaly in Shih Tzu dogs. Acta Vet Scand — PubMed:PMID32563254 | DOI:10.1186/s13028-020-00528-0 — OMIA Phene_Article / Article - 2017. Lissencephaly in a Pekingese. J Vet Med Sci — PubMed:PMID28819088 | DOI:10.1292/jvms.17-0271 — OMIA Phene_Article / Article - 2009. Development of the Nervous System: Malformations. Veterinary neuroanatomy and clinical neurology. 3rd edn. Saunders Elsevier, St Louis — OMIA Phene_Article / Article - 1976. Lissencephaly in two Lhasa Apso dogs. J Am Vet Med Assoc — PubMed:PMID956022 — OMIA Phene_Article / Article - 1976. Lissencephaly in Lhasa Apso dogs. J Am Vet Med Assoc — PubMed:PMID1033927 — OMIA Phene_Article / Article - 2011. Clinical and MRI findings of lissencephaly in a mixed breed dog. J Vet Med Sci — PubMed:PMID21685716 | DOI:10.1292/jvms.11-0117 — OMIA Phene_Article / Article - 2002. Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos. Vet Radiol Ultrasound — PubMed:PMID12174995 | DOI:10.1111/j.1740-8261.2002.tb01013.x — OMIA Phene_Article / Article - 2016. Lissencephaly in an adult Australian Kelpie. Aust Vet J — PubMed:PMID27021891 | DOI:10.1111/avj.12423 — OMIA Phene_Article / Article - 2020. Lissencephaly in Shih Tzu dogs. Acta Vet Scand — PubMed:PMID32563254 | DOI:10.1186/s13028-020-00528-0 — OMIA Phene_Article / Article - 2017. Lissencephaly in a Pekingese. J Vet Med Sci — PubMed:PMID28819088 | DOI:10.1292/jvms.17-0271 — OMIA Phene_Article / Article - 2009. Development of the Nervous System: Malformations. Veterinary neuroanatomy and clinical neurology. 3rd edn. Saunders Elsevier, St Louis — OMIA Phene_Article / Article [115]

Australian Kelpie — cerebellar ataxia (hereditary; OMIA-verified breed predisposition)

Disorder: cerebellar ataxia [116]

Mode of inheritance: Wade et al. (2022): Based on past breeding studies, pedigree analysis and segregation analysis, CA has been suspected or confirmed to have an autosomal recessive mode of inheritance in many of the affected dog breeds.. [116]

Summary: Cerebellar abiotrophy (CA) has been diagnosed in many dog breeds and different names have been used for the disease - please see separate entries in OMIA for CA diseases with known likely causal variants, e.g. [OMIA:002092-9615]: Ataxia, spinocerebellar, SPTBN2-related in Canis lupus familiaris; [OMIA:002602-9615]: Cerebellar abiotrophy, VMP1-related in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article - 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article - 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article - 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article - 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis.. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article - 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies.. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article - 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs.. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article - 2011. Mapping cerebellar abiotrophy in Australian Kelpies.. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article - 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article - 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing.. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article - 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever.. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article - (11 additional references in OMIA) - 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article - 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article - 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article - 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article - 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article - 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article - 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article - 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article - 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article - 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article - 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article - (11 additional references in OMIA) - 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article - 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article - 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article - 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article - 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article - 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article - 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article - 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article - 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article - 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article - 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article - (11 additional references in OMIA) - 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article - 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article - 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article - 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article - 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article - 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article - 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article - 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article - 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article - 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article - 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article - (11 additional references in OMIA) - 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article - 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article - 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article - 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article - 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article - 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article - 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article - 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article - 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article - 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article - 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article - (11 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [116]

Australian Kelpie — globoid cell leukodystrophy (hereditary; OMIA-verified breed predisposition)

Disorder: globoid cell leukodystrophy [117]

Clin feat: Clinical signs are usually apparent in affected dogs by 4-6 weeks of age (Corado et al., 2020). Affected dogs initially present with tremors and pelvic limb weakness which then progresses to pelvic limb ataxia as well as thoracic limb dysmetria, followed by tetraparesis and then eventually hind limb paralysis (Corado et al., 2020). Other clinical signs may include a wide-based stance, hypermetria, generalised incoordination and muscle atrophy (Bradbury et al., 2018). [117]

Pathology: This disease results in extensive characteristic white matter demyelination, globoid cell infiltration and low leukocyte galactosylceramidase activity (Fletcher et al., 2010). Demyelination usually begins in the spinal cord, peripheral nerves and hindbrain before progressing to the cerebellum (Fletcher et al., 2010). Histopathological changes in GLD-affected dogs include reactive astrocytosis and microglial activation (Fletcher et al., 2010). Psychosine, a GALC substrate, is believed to be responsible for cell death in GLD (Corado et al., 2020). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403916 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1973. Globoid cell leukodystrophy in a Miniature Poodle. J Am Vet Med Assoc — PubMed:PMID4721757 — OMIA Phene_Article / Article - 1975. Globoid cell leukodystrophy in a Beagle. J Am Vet Med Assoc — PubMed:PMID1158775 — OMIA Phene_Article / Article - 1979. Hereditary leukodystrophy in Dalmatian dogs in Norway. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 1976. The morphologic similarities of human and canine globoid leukodystrophy. American Journal of Pathology — PubMed:PMID970445 — OMIA Phene_Article / Article - 1971. Ultrastructural features of globoid cell leukodystrophy in the dog. American Journal of Veterinary Research — PubMed:PMID5099954 — OMIA Phene_Article / Article - 1974. Globoid cell leukodystrophy in the Bluetick Hound dog. I. Clinical manifestations. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1971. Krabbe's globoid cell leukodystrophy: deficiency of galactocerebrosidase in serum, leukocytes, and fibroblasts. Science — PubMed:PMID5538703 — OMIA Phene_Article / Article - 1970. Ultrastructural study of experimental globoid cells. Laboratory Investigation — PubMed:PMID5484847 — OMIA Phene_Article / Article - 1971. Globoid cell leukodystrophy in two dogs. J Small Anim Pract — PubMed:PMID5167788 | DOI:10.1111/j.1748-5827.1971.tb06187.x — OMIA Phene_Article / Article - 1994. Globoid cell leucodystrophy in seven West Highland White Terrier pups. Annales de Medecine Veterinaire — OMIA Phene_Article / Article - 1996. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn Terriers. Genomics — PubMed:PMID8661004 | DOI:10.1006/geno.1996.0220 — OMIA Phene_Article / Article - 1998. MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy. Journal of Small Animal Practice — PubMed:PMID9741878 — OMIA Phene_Article / Article - (27 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:245200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606890 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [117]

Australian Koolie — This is the classic M (Merle) locus (Little, 1957) (hereditary; OMIA-verified breed predisposition)

Breed: Australian Koolie (Dog) [118]

Disorder: This is the classic M (Merle) locus (Little, 1957) [118]

Mode of inheritance: Autosomal incomplete dominant [118]

Summary: Varga et al. (2020): The intensity of the merle pattern is determined by the length of the poly(A) tail of a repeat element which has been inserted into the boundary of intron 10 and exon 11 of the PMEL17 locus in reverse orientation. This poly(A) tail behaves as a microsatellite, and due to replication slippage, longer and shorter alleles of it might be generated during cell divisions. The length of the poly(A) tail regulates the splicing mechanism. In the case of shorter tails, the removal of intron 10 takes place at the original splicing, resulting in a normal premelanosome protein (PMEL). Longer tails generate larger insertions, forcing splicing to a cryptic splice site, thereby coding for an abnormal PMEL protein, which is unable to form the normal fibrillar matrix of the eumelanosomes. Thus, eumelanin deposition ensuring the dark color formation is reduced. In summary, the longer the poly(A) tail, the lighter the coat color intensity of the melanocytes. These mutations can occur in the somatic cells and the resulting cell clones will shape the merle pattern of the coat. When they take place in the germ line, they occasionally produce offspring with unexpected color variations which are different from those of their parents. [118]

Clin feat: As reported by Clark et al. (2006) (citing Sorsby and Davey, 1954), Dogs having Mm and MM genotypes typically have blue eyes and often exhibit a wide range of auditory and ophthalmologic abnormalities Strain et al. (2009) assessed a sample of 153 merle dogs from 10 breeds plus one mixed-breed dog and reported Deafness prevalence in merles overall was 4.6% unilaterally deaf and 4.6% bilaterally deaf. There was a significant association between hearing status and heterozygous versus homozygous merle genotype. For single merles (Mm), 2.7% were unilaterally deaf and 0.9% were bilaterally deaf. For double merles (MM), 10% were unilaterally deaf and 15% were bilaterally deaf. There was no significant association with eye color or sex. [118]

Prevalence: Mizukami et al. (2016) reported the frequency of the SINE-insertion allele as 0.016 in 500 Border collies in Japan. Langevin et al. (2018): It seems that some Merle breeds might be enriched for some Merle alleles, but our split cohort (14 breeds) is too small to draw any statistically significant conclusion. More subjects have to be tested to clarify this issue. In a sample of 123 dogs of the Mudi breed from 11 countries, Pelles et al. (2019) reported that the most frequent merle genotype... was the 'classic' merle (m/M: 61.8%), whereas other variants, such as atypical (m/Ma and m/Ma+: 5.7%), harlequin (m/Mh: 13.8%), double merle (M/M: 0.8%) and mosaic profiles (17.9%) were also observed. [118]

Gen test: Langevin et al. (2018): In light of negative health consequences that may be attributed to certain Merle breeding strategies, we strongly advocate implementation of the refined Merle allele testing for all dogs of Merle breeds to help the breeders in selection of suitable mating partners and production of healthy offspring. This important message was reinforced by Pelles et al. (2019): The practical significance of testing this mutation [i.e. genotyping for Merle alleles] is that, phenotypically, not only merle dogs are carriers of this insertion, but also the so-called hidden merle individuals (where the merle phenotype is fully covered by the pheomelanin-dominated colouration) are potentially capable of producing unintentionally homozygous 'double merle' [M/M] progeny with ophthalmologic, viability and auditory impairments. Ballif et al. (2021) further reinforce this message: The frequent identification of cryptic, hidden, and mosaic merle variants, which can be undetectable by phenotypic inspection,. illustrates the critical need for genetic testing for merle prior to breeding. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Pmel17 (Entrez Gene ID 23857013) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Sequencing of a very likely comparative positional candidate gene (SILV or PMEL17; now known as PMEL) (see Mapping section above) in Shetland Sheedogs of the three merle genotypes by Clark et al. (2006) revealed "an insertion of a tRNA-derived SINE . . . . The insertion occurs at the boundary of intron 10 and exon 11 and is flanked by a 15-bp target site duplication . . . . The SINE insertion is i… Evidence (references) - 1977. Audiometric findings in Dachshunds (merle gene carriers). Dtsch Tierarztl Wochenschr — PubMed:PMID330141 — OMIA Phene_Article / Article - 1935. Dominant dilution and other colour factors in Collie dogs. Journal of Heredity — OMIA Phene_Article / Article - 1953. Defective Collie dogs with heterozygous merling. Journal of Canine Genetics — OMIA Phene_Article / Article - 1954. Ocular associations of dappling (or merling) in the coat colour of dogs. I. Clinical and genetical data. Journal of Genetics — OMIA Phene_Article / Article - 1988. [Eye lesions in aging merle Dachshunds with particular reference to iris atrophy]. Praktische Tierarzt — OMIA Phene_Article / Article - 1986. Light-microscope investigations on the retinae of dogs carrying the Merle factor. Journal of Veterinary Medicine. Series A — PubMed:PMID3099512 — OMIA Phene_Article / Article - 1984. Germline reversion of the merle allele in Australian shepherd dogs. J Hered — PubMed:PMID6323572 | DOI:10.1093/oxfordjournals.jhered.a109874 — OMIA Phene_Article / Article - 1985. Inheritance of the harlequin color in Great Dane dogs. Journal of Heredity — PubMed:PMID3998446 — OMIA Phene_Article / Article - 1985. Inheritance of tweed, a modification of merle, in Australian shepherd dogs. Journal of Heredity — PubMed:PMID4031467 — OMIA Phene_Article / Article - 2003. KITLG maps to canine chromosome 15 and is excluded as a candidate gene for merle in dogs. Anim Genet — PubMed:PMID12580795 — OMIA Phene_Article / Article - 2006. From The Cover: Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci U S A — PubMed:PMID16407134 | DOI:10.1073/pnas.0506940103 — OMIA Phene_Article / Article - 2006. Coat colour in dogs: identification of the merle locus in the Australian shepherd breed. BMC Vet Res — PubMed:PMID16504149 | DOI:10.1186/1746-6148-2-9 — OMIA Phene_Article / Article - (21 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:155550 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [118]

Australian Labradoodle — X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy (hereditary; OMIA-verified breed predisposition)

Breed: Australian Labradoodle (Dog) [112]

Australian Shepherd — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Australian Shepherd (Dog) [68]

Australian Shepherd — Ciliary dyskinesia, primary, STK36-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Christen et al. (2023) investigated an Australian Shepherd dog with a history of recurrent respiratory infections and nasal discharge. Disease onset was noticed at 8 weeks of age. The impaired mucociliary clearance and resulting recurrent airway infections required frequent treatments. The dog was 6 years old at the time of the investigation by Christen et al. (2023). [119]

Pathology: Christen et al. (2023): A transmission electron microscopy investigation led to the diagnosis of PCD with central pair defect, in which the normal 9:2 arrangement of respiratory cilia was altered and reduced to a 9:0 arrangement. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246795 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Christen et al. (2023): "Whole genome sequencing data from the affected dog was obtained and searched for variants in PCD candidate genes that were not present in 918 control genomes from different breeds. This revealed a homozygous single base pair exchange at a splice site of STK36, XM_038585732.1:c.2868-1G>A. The mutant allele was absent from 281 additionally genotyped Australian Shepherd dogs.… Evidence (references) - 2023. STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia. Anim Genet — PubMed:PMID36786090 | DOI:10.1111/age.13306 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:607652 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:619436 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [119]

Australian Shepherd — Epidermolysis bullosa, junctionalis, LAMB3-related (hereditary; OMIA-verified breed predisposition)

Summary: In epidermolysis bullosa (EB), the epidermis easily detaches from the underlying dermis. Currently four subtypes of EB are distinguished: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler EB. At the time of preparing this entry, 16 different EB genes were known in human genetics (Has et al. 2020). [120]

Clin feat: Affected puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life. The average weight was about half that of their unaffected siblings. Due to the severity of the phenotype affected dogs were euthanized between 4 and 7.5 months of age (Kiener et al. 2020). The skin lesions were not seen at birth and developed only during the first weeks of life. This led to the classification of a JEB of intermediate severity (Kiener et al. 2020). [120]

Pathology: Microscopically, the skin and mucosal biopsy samples all exhibited limited-to-widespread epidermal detachment, and ulcers were covered with serocellular crusts; inflammation was sparse in non-ulcerated areas. In some sections, the basement membrane could be discerned at the base of the clefts, thus suggesting the diagnosis of JEB. Epithelial detachment was also noted in an intestinal biopsy taken from duodenum during endoscopy of one of the affected puppies (Kiener et al. 2020). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388221477 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Kiener et al. (2020) studied an Australian Shepherd family consisting of the parents, three affected and two unaffected puppies. The litter was the result of a father-daughter mating. Analysis of whole genome sequence data from one affected puppy and 73 healthy control dogs was performed. The analysis was focused on 37 functional candidate genes known to cause human skin fragility phenotypes. The … Evidence (references) - 2020. LAMB3 missense variant in Australian Shepherd dogs with junctional epidermolysis bullosa. Genes (Basel) — PubMed:PMID32906717 | DOI:10.3390/genes11091055 — OMIA Phene_Article / Article - 2020. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol — PubMed:PMID32017015 | DOI:10.1111/bjd.18921 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2022. Inheritance of monogenic hereditary skin disease and related canine breeds. Vet Sci — PubMed:PMID36006348 | DOI:10.3390/vetsci9080433 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:150310 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [120]

Australian Shepherd — Hyposegmentation of granulocytes (hereditary; OMIA-verified breed predisposition)

Summary: The phenotype has initially been termed Pelger-Huët anomaly due to the phenotypic similarity with human Pelger-Huët anomaly. However, the human Pelger-Huët anomaly is caused by variants in the LBR gene, while this entry refers to an LMBR1L-related phenotype characterized by hyposegmented granulocytes. [121]

Defect: unknown [121]

Prevalence: Lourdes Frehner et al. (2023): The homozygous mutant LMBR1L genotype associated with HG is common in Australian Shepherd Dogs and was found in 39 of 300 genotyped dogs (13%). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388306979 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Lourdes Frehner et al. (2023): "Whole genome sequencing identified a splice site variant in LMBR1L, c.191+1G>A, as most likely causal variant for the HG phenotype. The mutant allele abrogates the expression of the longer X2 isoform but does not affect transcripts encoding the shorter X1 isoform of the LMBR1L protein." Evidence (references) - 2000. Pelger-Huet anomaly in Australian shepherds: 87 cases (1991-1997). Comparative Haematology International — OMIA Phene_Article / Article - 1989. Leukocyte function in Pelger-Huët anomaly of dogs. J Leukoc Biol — PubMed:PMID2649629 | DOI:10.1002/jlb.45.4.301 — OMIA Phene_Article / Article - 2023. Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS Genet — PubMed:PMID37347778 | DOI:10.1371/journal.pgen.1010805 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610007 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [121]

Australian Shepherd — Intestinal cobalamin malabsorption, AMN-related (hereditary; OMIA-verified breed predisposition)

Summary: Intestinal cobalamin malabsorption is a metabolic disorder characterized by failure to thrive, neutropenia, decreased serum cobalamin (Cbl), and nonregenerative anemia. Other signs include chronic inappetance, megaloblastic changes of the bone marrow, methylmalonic aciduria, and homocysteinemia. It occurs in the giant schnauzer, Australian shepherd, border collie, Hungarian komondor, and beagle. In giant schnauzers and Australian shepherds intestinal cobalamin malabsorption is due to absence of receptors for the intrinsic factor-Cbl complex at the brush border of enterocytes in the ileum. A specific defect has not yet been demonstrated in other breeds. The mode of inheritance is autosomal recessive. The two known causative mutations are a deletion in AMN in the giant schnauzer, and a nucleotide substitution in AMN in the Australian shepherd. Tests are available to detect the known causative mutations. Parents and siblings of affected dogs should be tested. Breeding of affected dogs is not recommended. Carriers should be bred only to clinically normal dogs demonstrated to be non carriers. Entry edited by John C. Fyfe, D.V.M., Ph. D. Intestinal cobalamin malabsorption can be caused by mutations in the AMN gene (this entry) or by mutations in the CUBN gene [OMIA:001786-9615]. [122]

Clin feat: Signs begin around 6 to 12 weeks of age, and include failure to thrive and chronic inappetance. Affected animals also demonstrate neutropenia with hypersegmentation, nonregenerative anemia with anisocytosis and poikilocytosis, megaloblastic changes of the bone marrow, decreased serum Cbl concentrations, methylmalonic aciduria, and homocysteinemia. These animals have normal renal function, but low-molecular weight urinary protein excretion (Fyfe et al., 1991). [122]

Pathology: In normal dogs, Cbl is ingested in the diet and binds to intrinsic factor, a glycoprotein made by the gastric mucosa and the pancreatic duct epithelium. The complex of intrinsic factor (IF) and Cbl is absorbed through binding receptors on enterocytes in the distal jejunum and ileum. Signs of intestinal cobalamin malabsorption are due to absence of receptors for the IF-Cbl complex at the brush border (Fyfe et al., 1991). Affected dogs have one of two demonstrated mutations in the gene coding for amnionless, a protein that complexes with cubilin to ensure apical membrane localization of IF-Cbl receptors in enterocytes. It also regulates endocytic functions. Without functional amnionless, the IF-Cbl receptors do not localize to the brush-border, and dogs cannot absorb cobalamin (Fyfe et al., 2003). Dogs are born with cobalamin stores, but they are rapidly used up during postnatal growth unless replaced from the diet. This is when signs become apparent (Fyfe et al., 1991). [122]

Control: Parents and siblings of affected dogs should be tested. Breeding of affected is not recommended. Carriers should only be bred to tested dogs that are not carriers. [122]

Gen test: A DNA test for the disorder is included in the OFA's list at http://www.offa.org/dna_alltest.html, which directs enquiries to PennGen at the University of Pennsylvania (http://research.vet.upenn.edu/Default.aspx?alias=research.vet.upenn.edu/penngen). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3429615 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By adopting a comparative positional cloning approach, having established AMN as a very strong comparative positional candidate gene (see Mapping section above), He et al. (2005) showed that the causative mutation in Giant Schnauzers is an "in-frame deletion of 33 nucleotides in exon 10 of AMN . . . [namely] c.1113_1145del"; the causative mutation in Australian shepherds is "a G>A transition at… Causal variant(s) - Variant: allele D; chromosome 8; pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1991. Inherited Selective Intestinal Cobalamin Malabsorption and Cobalamin Deficiency in Dogs. Pediatric Research — PubMed:PMID1848001 — OMIA Phene_Article / Article - 1991. Defective Brush-Border Expression of Intrinsic Factor- Cobalamin Receptor in Canine Inherited Intestinal Cobalamin Malabsorption. Journal of Biological Chemistry — PubMed:PMID1999430 — OMIA Phene_Article / Article - 2000. Persistent cobalamin deficiency causing failure to thrive in a juvenile beagle. Journal of Small Animal Practice — PubMed:PMID11023127 — OMIA Phene_Article / Article - 2003. Canine Imerslund-Grasbeck syndrome maps to a region orthologous to HSA14q. Mamm Genome — PubMed:PMID14722725 | DOI:10.1007/s00335-003-2280-1 — OMIA Phene_Article / Article - 1991. Role of the pancreas in the absorption and malabsorption of cobalamin (vitamin B-12) in dogs. J Nutr — PubMed:PMID1941244 — OMIA Phene_Article / Article - 2004. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood — PubMed:PMID14576052 | DOI:10.1182/blood-2003-08-2852 — OMIA Phene_Article / Article - 2005. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood — PubMed:PMID15845892 | DOI:10.1182/blood-2005-03-1197 — OMIA Phene_Article / Article - 2015. Failure to thrive and life-threatening complications due to inherited selective cobalamin malabsorption effectively managed in a juvenile Australian shepherd dog. Can Vet J — PubMed:PMID26483576 — OMIA Phene_Article / Article - 2020. Review of cobalamin status and disorders of cobalamin metabolism in dogs. J Vet Intern Med — PubMed:PMID31758868 | DOI:10.1111/jvim.15638 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:618882 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605799 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [122]

Australian Shepherd — Ivermectin sensitivity (hereditary; OMIA-verified breed predisposition)

Disorder: Ivermectin sensitivity [123]

Summary: Multidrug resistance 1 is caused by a lack of P-glycoprotein drug transporter in the blood-brain barrier, which is characterized by neurotoxicity after administration of certain drugs. [123]

Clin feat: In the 1980s, dogs of predominantly herding breeds were reported with adverse effects following drug administration. When these dogs are administered xenobiotics at an appropriate dose, the drug accumulates in the brain leading to severe neurotoxicity. Affected animals may present with generalised tremor, agitation, severe panting, hypersalivation, lethargy, disorientation, depression, mydriasis, loss of menace, loss of papillary light responses, blindness, seizures, proprioceptive ataxia, weakness, bradycardia, obtundation, recumbency and coma (Mealey et al., 2001; Bissonnette et al., 2009; Gaens et al., 2019). Mydriasis is suggested to be the most sensitive sign (Bissonnette et al., 2009). [123]

Pathology: P-glycoprotein (P-gp) is an adenosine triphosphate driven drug transporter, encoded for by the ABCB1 gene. P-gp normally transports some chemotherapeutic agents (Vinca alkaloids, doxorubicin), immunosuppressants (cyclosporine, tacrolimus), macrocyclic lactone antiparasitic drugs (ivermectin, loperamide, milbemycin, selamectin, moxidectin), HIV-1 protease inhibitors, and steroid hormones. It is expressed in many tissues, including the liver, kidneys, and intestines, where it functions to reduce drug uptake from the gut and promote drug excretion in the bile duct and urine (Gramer et al., 2011). Moreover, it is a major component of the blood-brain barrier, thus is crucial in protecting the central nervous system from exposure to certain drugs (Schinkel et al., 1996). Dogs that are homozygous for causal ABCB1 mutations lack P-gp, and consequently are susceptible for certain drugs to penetrate into the brain, and accumulation of high drug levels in the brain leads to toxicity (Mealey, 2008). [123]

Prevalence: In the USA, the frequency of the 4bp deletion allele [omia.variant:469] was reported as 56-75% in collies, 7% in Shetland sheepdogs, 29% in Australian shepherds, 1% in Border collies, 1% in old English sheepdogs, 20% in miniature Australian shepherds, 29% in longhaired whippets, 16% in silken windhounds, and 6% in German shepherds (Mealey and Meurs, 2008, Mealey, 2008). In Germany, the frequency of the same allele was reported as 59% in collies, 45% in longhaired whippets, 30% in Shetland sheepdogs, 24% in miniature Australian shepherds, 22% in Australian shepherds, 17% in Wällers, 14% in white Swiss shepherds, 4% in old English sheepdogs, 1% in Border collies, 8% in herding breed mixes, and 2% in mixed breeds (Gramer et al., 2011). Mizukami et al. (2013) developed a PCR-RFLP genotyping test for the c.-6-180T>G mutation [omia.variant:442], and in 472 Border Collies in Japan demonstrated the frequencies of the T/T wild type, T/G heterozygote, and G/G mutant homozygote to be 60.0%, 30.3%, and 9.8%, respectively, indicating that the frequency of the mutant G allele is extremely high (24.9%) in Border Collies. The results suggest that this high mutation frequency of the mutation is likely to cause a high prevalence of phenobarbital-resistant epilepsy in Border Collies. Mizukami et al. (2016) reported the frequency of the 4bp deletion allele [omia.variant:469] as 0.002 in 500 Border collies in Japan. Lerdkrai et al. (2021) clarified the prevalence of MDR1 nt230(del4) [omia.variant:469] in 263 dogs of eight purebred dog breeds in Thailand.. Rough Collies, Australian Shepherds, Shetland Sheepdogs, and Old English Sheepdogs were affected by the mutation with mutant allelic frequencies of 57.14%, 12.82%, 11.28%, and 8.33%, respectively.. However, the MDR1 nt230(del4) [omia.variant:469] was not identified in Border Collies, German Shepherds, White Swiss Shepherds, or Thai Ridgebacks. [123]

Gen test: Silvestro et al. (2019) developed two methods for genotyping the deletion variant. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: MDR1 (Entrez Gene ID 26536055) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: By cloning and sequencing a very likely candidate gene (based on knowledge of the biochemistry and physiology of the disorder) Mealey et al. (2001) identified the causative mutation as a 4 bp deletion (c.296_299del4; omia.variant:469) in the ABCB1 (MDR1) gene, which encodes P-glycoprotein drug transporter (P-gp). The deletion causes a frame shift, introducing several stop codons, which cause prema… Evidence (references) - 2005. Canine microsatellites associated with genes known to cause progressive retinal atrophy in dogs or retinitis pigmentosa in humans. Anim Genet — PubMed:PMID15932411 | DOI:10.1111/j.1365-2052.2005.01271.x — OMIA Phene_Article / Article - 2003. Increased toxicity of P-glycoprotein-substrate chemotherapeutic agents in a dog with the MDR1 deletion mutation associated with ivermectin sensitivity. J Am Vet Med Assoc — PubMed:PMID14627096 — OMIA Phene_Article / Article - 2004. Breed distribution and history of canine mdr1-1Delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage. Proc Natl Acad Sci U S A — PubMed:PMID15289602 | DOI:10.1073/pnas.0402374101 — OMIA Phene_Article / Article - 2004. Loperamide toxicity in a collie with the MDR1 mutation associated with ivermectin sensitivity. J Vet Intern Med — PubMed:PMID14765742 — OMIA Phene_Article / Article - 2005. Frequency of the mutant MDR1 allele associated with multidrug sensitivity in a sample of herding breed dogs living in Australia. Vet Parasitol — PubMed:PMID15975717 | DOI:10.1016/j.vetpar.2005.05.004 — OMIA Phene_Article / Article - 2005. Ivermectin neurotoxicity in dogs: A consequence of a mutation in the canine MDR 1 gene. Naunyn-Schmiedeberg's Archives of Pharmacology — OMIA Phene_Article / Article - 2000. Isolation and sequence of the promoter region of the canine multidrug resistance (P-glycoprotein) gene, MDR1. Journal of Veterinary Internal Medicine — OMIA Phene_Article / Article - 1996. Semi-quantitative assessment of canine MDR1 mRNA using RT-PCR. Proceedings of the American Association for Cancer Research Annual Meeting — OMIA Phene_Article / Article - 2005. Veterinary pharmacogenetics: example of MDR1 mutation in Collie dogs. Bulletin de l'Academie Veterinaire de France — OMIA Phene_Article / Article - 2003. Sequence and structural analysis of the presumed downstream promoter of the canine mdr1 gene. Veterinary and Comparative Oncology — OMIA Phene_Article / Article - 2006. Digoxin and mexiletine sensitivity in a Collie with the MDR1 mutation. J Vet Intern Med — PubMed:PMID16594604 — OMIA Phene_Article / Article - 2005. Frequency of the nt230 (del4) MDR1 mutation in Collies and related dog breeds in Germany. J Vet Pharmacol Ther — PubMed:PMID16343287 | DOI:10.1111/j.1365-2885.2005.00692.x — OMIA Phene_Article / Article - (69 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:171050 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120080 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [123]

Australian Shepherd — Neuronal ceroid lipofuscinosis, 6 (hereditary; OMIA-verified breed predisposition)

Clin feat: Affected dogs present with visual deficits which progress to complete blindness, as well as progressive anxiety, cognitive and motor degeneration, circling, and incoordination (Katz et al., 2011). [124]

Pathology: Cerebellar hypoplasia and enlarged lateral ventricles are present. Large amounts of autofluorescent substance are present in the retina, cerebral cortex, and cerebellum, which is most prevalent in the cerebellar Purkinje and granular layers and the retinal ganglion cell layer (Katz et al., 2011). [124]

Prevalence: The prevalence of this condition appears to be very low in Australian Shepherd dogs, as only two affected dogs have been definitively identified thus far (Katz et al., 2011). [124]

Australian Shepherd — Pelger-Huet anomaly (hereditary; OMIA-verified breed predisposition)

Summary: Human Pelger-Huët anomaly is caused by heterozygous variants in the LBR gene and characterized by hyposegmentation of granulocytes. Bi-allelic loss of function of the LBR gene in humans results in Greenberg skeletal dysplasia, a severe condition involving prenatal lethality. All literature before 2023 hypothesized that dogs with hyposegmentation of granulocytes represent true homologs of the human Pelger-Huët anomaly, but the underlying causal genetic variant in dogs was unknown. Lourdes Frehner et al. (2023) demonstrated that a common form of hyposegmentation of granulocytes in dogs is actually caused by a variant in the LMBR1L gene (OMIA:002700-9615). Lourdes Frehner et al. (2023) proposed to reserve the term Pelger-Huët anomaly for LBR-related forms of hyposegmentation of granulocytes. At this time, it is not clear whether a true LBR-related form of PHA has ever been observed in dogs. [125]

Clin feat: PHA is a leucocyte development-disorder, in which granulocytes and monocytes show hyposegmentation of the nuclei with a mature, coarse chromatin pattern (Latimer et al. 2000). Those changes are without any clinical relevance, but frequently lead to misdiagnosis as marked left shift, which is normally caused by inflammation, preleucaemic syndrome or drug induced changes in leucocyte morphology. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: PHA (no structured Phene_Gene link) Evidence (references) - 1979. Studies of the Pelger-Huet anomaly in Foxhounds. American Journal of Pathology — PubMed:PMID464021 — OMIA Phene_Article / Article - 1997. Pelger-Huet anomaly in an Addisonian. Canine Practice — OMIA Phene_Article / Article - 2000. Pelger-Huet anomaly in Australian shepherds: 87 cases (1991-1997). Comparative Haematology International — OMIA Phene_Article / Article - 1967. [Pelger-Huet nuclear anomaly in leukocytes in a dog]. Berl Munch Tierarztl Wochenschr — PubMed:PMID5628116 — OMIA Phene_Article / Article - 2011. Pelger-Huët anomaly in two related mixed-breed dogs. J Vet Diagn Invest — PubMed:PMID21908340 | DOI:10.1177/1040638711407891 — OMIA Phene_Article / Article - 2011. Congenital Pelger-Huët anomaly in a Danish/Swedish Farmdog: case report. Acta Vet Scand — PubMed:PMID21362186 | DOI:10.1186/1751-0147-53-14 — OMIA Phene_Article / Article - 1989. Leukocyte function in Pelger-Huët anomaly of dogs. J Leukoc Biol — PubMed:PMID2649629 | DOI:10.1002/jlb.45.4.301 — OMIA Phene_Article / Article - 2023. Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS Genet — PubMed:PMID37347778 | DOI:10.1371/journal.pgen.1010805 — OMIA Phene_Article / Article - 2025. Prevalence of hyposegmentation of granulocytes/Pelger-Huët anomaly in different canine breeds: a Bayesian approach. Front Vet Sci — PubMed:PMID40567546 | DOI:10.3389/fvets.2025.1602474 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:169400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [125]

Australian Shepherd — Persistent hyaloid artery (PHA) (hereditary; OMIA-verified breed predisposition)

Disorder: Persistent hyaloid artery (PHA) [126]

Australian Shepherd — Primary hereditary cataract (hereditary; OMIA-verified breed predisposition)

Disorder: Primary hereditary cataract [127]

Summary: Other forms of inherited cataract have been been described in other breeds, for examples see '[OMIA:002536-9615] - Cataract, FYCO1-related' and '[OMIA:000168-9615] -Cataract, generic'. [127]

Clin feat: Cataract, defined as opacity of the lens, can be hereditary or nonhereditary. Clinical features include change in eye colour, pupil size, alteration in vision. Patients may be less aware of their surroundings due to reduced vision. In severe cataract cases, glaucoma can develop, causing pain and discomfort to the patient. Heritable cataracts are often categorised by marked breed specificity, age of onset, rate of progression, and the degree of bilateral symmetry (Mellersh et al., 2006). Mellersh et al. (2006) Primary HC in the Staffordshire Bull Terrier was first reported in the UK in 1976 [Barnett, 1978]. This cataract is bilateral, symmetrical in the two eyes, and progressive until total with resultant blindness [Patterson, 2000]. It is not congenital but appears at a few weeks to months in age, progressing to total by 2 to 3 years of age. The ophthalmoscopic and slit-lamp biomicroscopic appearance is of a central area of opacity with a number of small areas of denser opacity., initially with a clear cortex. Progression is bilaterally symmetrical, the cataract becoming mature between 2 and 3 years.. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: NOL3 (Entrez Gene ID 23863019) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Building on their mapping results (see above), Mellersh et al. (2006) sequenced the HSF4 gene in Staffordshire Bull Terriers segregating the disorder, and identified "a single C nucleotide insertion in exon 9 (CFA5 g85286582–85286583insC) that alters the reading frame of the gene and introduces a premature stop codon". The same mutation appears to be causative in Boston Terriers, and a different m… Evidence (references) - 2000. Companion animal medicine in the age of medical genetics [Review]. J Vet Intern Med — PubMed:PMID10668810 — OMIA Phene_Article / Article - 2006. Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol — PubMed:PMID16939467 | DOI:10.1111/j.1463-5224.2006.00496.x — OMIA Phene_Article / Article - 2008. Evaluation of canine heat shock transcription factor 4 (HSF4) as a candidate gene for primary cataracts in the Dachshund and the Entlebucher Mountain dog. Vet Ophthalmol — PubMed:PMID18190350 | DOI:10.1111/j.1463-5224.2007.00598.x — OMIA Phene_Article / Article - 2008. Inheritance of cataracts and primary lens luxation in Jack Russell Terriers. Am J Vet Res — PubMed:PMID18241019 | DOI:10.2460/ajvr.69.2.222 — OMIA Phene_Article / Article - 2009. Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol — PubMed:PMID19883468 | DOI:10.1111/j.1463-5224.2009.00735.x — OMIA Phene_Article / Article - 2007. Mutation in HSF4 associated with early but not late-onset hereditary cataract in the Boston Terrier. J Hered — PubMed:PMID17611257 | DOI:10.1093/jhered/esm043 — OMIA Phene_Article / Article - 2007. Evaluation of canine heat-shock transcription factor 4 as a candidate for primary cataracts in English Cocker Spaniels and wire-haired Kromfohrlanders. J Anim Breed Genet — PubMed:PMID17651328 | DOI:10.1111/j.1439-0388.2007.00663.x — OMIA Phene_Article / Article - 1978. Hereditary cataract in the dog. J Small Anim Pract — PubMed:PMID642468 | DOI:10.1111/j.1748-5827.1978.tb05463.x — OMIA Phene_Article / Article - 1976. Comparative aspects of canine hereditary eye disease. Adv Vet Sci Comp Med — PubMed:PMID827198 — OMIA Phene_Article / Article - 2013. Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc — PubMed:PMID23683021 | DOI:10.2460/javma.242.11.1549 — OMIA Phene_Article / Article - 2015. A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog. Mamm Genome — PubMed:PMID25894238 | DOI:10.1007/s00335-015-9562-2 — OMIA Phene_Article / Article - 2019. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One — PubMed:PMID30650096 | DOI:10.1371/journal.pone.0209864 — OMIA Phene_Article / Article - (4 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:116800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602438 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [127]

Australian Shepherd — Renal cancer syndrome, nodular dermatofibrosis and kidney disease (hereditary; OMIA-verified breed predisposition)

Disorder: Renal cancer syndrome, nodular dermatofibrosis and kidney disease [128]

Clin feat: As summarised by Lingaas et al. (2003), The disease is characterized by bilateral, multifocal tumors in the kidneys, uterine leiomyomas and nodules in the skin consisting of dense collagen fibers. Ciccarelli et al. (2019) reported a case of Unilateral renal cystadenocarcinoma and nodular dermatofibrosis in a mixed-breed dog carrying... [the p.His255Arg] FLCN gene mutation, concluding that This case supports the hypothesis that nodular dermatofibrosis is not a paraneoplastic syndrome associated with cystadenocarcinoma. It may be instead an independent dermatological feature of the same genetic disease, linked to the mutation of FLCN given that the cutaneous nodules in this dog increased in size and number after removal of the adenocarcinoma. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: BHD (Entrez Gene ID 26585227) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: The causal mutation was discovered via a comparative positional cloning approach. Building on the mapping results described in the Mapping section above, Lingaas et al. (2003) narrowed the candidate region homologous to human HSA17p, which includes the BHD gene, mutations in which cause Birt–Hogg–Dubé syndrome, which is very similar to the canine disorder. Sequencing of the canine BHD gene showed … Evidence (references) - 1995. Generalised nodular dermatofibrosis and renal cystadenoma in a series of 10 closely related German Shepherd dogs. Australian Veterinary Practitioner — OMIA Phene_Article / Article - 1997. Computed tomography of hereditary multifocal renal cystadenocarcinomas in German Shepherd dogs. Veterinary Radiology & Ultrasound — PubMed:PMID9335089 — OMIA Phene_Article / Article - 1997. Hereditary multifocal renal cystadenocarcinomas and nodular dermatofibrosis in 51 German Shepherd dogs. Journal of Small Animal Practice — PubMed:PMID9403809 — OMIA Phene_Article / Article - 2000. Generalized nodular dermatofibrosis and cystic renal disease in five German shepherd dogs. Canine Practice — OMIA Phene_Article / Article - 2000. Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID10759551 | DOI:10.1073/pnas.070053397 — OMIA Phene_Article / Article - 1985. Hereditary multifocal renal cystadenocarcinomas and nodular dermatofibrosis in the German Shepherd dog: macroscopic and histopathologic changes. Veterinary Pathology — PubMed:PMID4049673 — OMIA Phene_Article / Article - 1984. Multiple bilateral renal cystadenocarcinomas in the German Shepherd dog. A case emphasizing the use of radiographic examination [Norwegian]. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 2003. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum Mol Genet — PubMed:PMID14532326 | DOI:10.1093/hmg/ddg336 — OMIA Phene_Article / Article - 2000. Renal microcystic tubular lesions in two 1Year-old dogs - an early sign of hereditary renal cystadenocarcinoma?. J Comp Pathol — PubMed:PMID11032680 | DOI:10.1053/jcpa.2000.0408 — OMIA Phene_Article / Article - 1990. Newly reported skin disease syndromes in the dog. Vet Clin North Am Small Anim Pract — PubMed:PMID2251742 | DOI:10.1016/s0195-5616(90)50163-1 — OMIA Phene_Article / Article - 2013. Nodular dermatofibrosis in a dog without a renal tumour or a mutation in the folliculin gene. J Comp Pathol — PubMed:PMID22871425 | DOI:10.1016/j.jcpa.2012.06.010 — OMIA Phene_Article / Article - 2009. Loss of heterozygosity at the FLCN locus in early renal cystic lesions in dogs with renal cystadenocarcinoma and nodular dermatofibrosis. Mamm Genome — PubMed:PMID19387735 | DOI:10.1007/s00335-009-9183-8 — OMIA Phene_Article / Article - (10 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:135150 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607273 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [128]

Australian Shepherd — This is the classic B (Brown) locus described by Little (1957) (hereditary; OMIA-verified breed predisposition)

Disorder: This is the classic B (Brown) locus described by Little (1957) [129]

Summary: Brancalion et al. (2021): The Brown (B) locus is controlled by Tyrosinase-related protein 1 (TYRP1. I), located on CFA11 (Schmutz et al. 2002). TYRP1. I encodes an intramelasomal peptide with a key role in the pathway of eumelanin biosynthesis (Kaelin et al. 2012). Consequently, variants in TYRP1 disrupt the production of eumelanin but have no effect on pheomelanin synthesis. Three recessive TYRP1 alleles, termed ‘bs’, ‘bd’ and ‘bc’, are commonly responsible for the dilution of black pigment to brown (Schmutz et al. 2002;.). The dominant wt allele, ‘B’, favours the production of normal black eumelanin.. As TYRP1 variants affect the synthesis of eumelanin and not pheomelanin, they have no effect on coat colour in dogs that are homozygous recessive at MC1R (e/e). Further, the variation in coat colour from yellow to red in e/e dogs was not found to be attributed to variants at the Brown locus (Schmutz et al. 2002). A two-gene interaction between the genotype at TYRP1 and MC1R, however, has been found to determine colouration of the nose and paw pads. Normally black, the nose and paw pads of E/e or E/E dogs with two or more recessive Brown alleles were found to be lightened to brown, whereas in e/e dogs, the normally black nose and paw pads were lightened to either brown or ‘self’ coloured. This phenomenon occurs because different genetic pathways control the migration of pigment into the hair shaft and keratinised skin (Schmutz et al. 2002; Schmutz & Berryere 2007). [129]

Prevalence: Van Buren et al. (2021): All genotyped brown husky and husky‐mixes carrying the b^h allele were compound heterozygotes with either the bs or bc alleles, consistent with two mutant alleles required for a brown coat. No unrelated huskies had the b^h allele. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403479 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the gene corresponding to the brown locus in mice), Schmutz et al. (2002) were the first to sequence the TYRP1 gene in dogs. They identified three likely causal variants, namely "a premature stop codon in exon 5 (Q331ter) [named allele b^s], . . .a [deletion of a] proline residue in exon 5 (345delP) [named allele b^d] . .… Evidence (references) - 2002. TYRP1 and MC1R genotypes and their effects on coat color in dogs. Mammalian Genome — PubMed:PMID12140685 | DOI:10.1007/s00335-001-2147-2 — OMIA Phene_Article / Article - 2007. Genes affecting coat colour and pattern in domestic dogs: a review. Anim Genet — PubMed:PMID18052939 | DOI:10.1111/j.1365-2052.2007.01664.x — OMIA Phene_Article / Article - 2011. Tracing the origin of 'blue Weimaraner' dogs by molecular genetics. J Anim Breed Genet — PubMed:PMID21385230 | DOI:10.1111/j.1439-0388.2010.00888.x — OMIA Phene_Article / Article - 2012. Coat color DNA testing in dogs: theory meets practice. Mol Cell Probes — PubMed:PMID22507852 | DOI:10.1016/j.mcp.2012.03.009 — OMIA Phene_Article / Article - 2017. A novel mutation in the TYRP1 gene associated with brown coat colour in the Australian Shepherd Dog Breed. Anim Genet — PubMed:PMID28497851 | DOI:10.1111/age.12563 — OMIA Phene_Article / Article - 2017. Two brown coat colour-associated TYRP1 variants (b(c) and b(d) ) occur in Leonberger dogs. Anim Genet — PubMed:PMID28983931 | DOI:10.1111/age.12612 — OMIA Phene_Article / Article - 2015. The b(c) allele of TYRP1 is causative for the recessive brown (liver) colour in German Shepherd dogs. Anim Genet — PubMed:PMID26370740 | DOI:10.1111/age.12337 — OMIA Phene_Article / Article - 2018. TYRP1:c.555T>G is a recurrent mutation found in Australian Shepherd and Miniature American Shepherd dogs. Anim Genet — PubMed:PMID30109695 | DOI:10.1111/age.12709 — OMIA Phene_Article / Article - 2005. The color of a Dalmatian's spots: linkage evidence to support the TYRP1 gene. BMC Vet Res — PubMed:PMID16045797 | DOI:10.1186/1746-6148-1-1 — OMIA Phene_Article / Article - 1957. The Inheritance of Coat Color in Dogs. Comstock Publishing Associates, Cornell University Press, Ithaca, NY — OMIA Phene_Article / Article - 2019. A novel TYRP1 variant is associated with liver and tan coat colour in Lancashire Heelers. Anim Genet — PubMed:PMID31468558 | DOI:10.1111/age.12839 — OMIA Phene_Article / Article - 2019. Association between coat colour and the behaviour of Australian Labrador retrievers. Canine Genet Epidemiol — PubMed:PMID31798910 | DOI:10.1186/s40575-019-0078-z — OMIA Phene_Article / Article - (8 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:612271 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:203290 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:115501 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [129]

Australian Shepherd — bob-tail, bob tail (hereditary; OMIA-verified breed predisposition)

Disorder: bob-tail, bob tail [130]

Summary: Short tails (also known as bob-tails) occur as single-locus traits in a number of dog breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403653 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Noting that null mutations in the T gene (also called TBXT) in the mouse result in a phenotype very similar to that of bob-tail in dogs, Haworth et al. (2001) investigated the canine homologue of the mouse T gene as a candidate gene for bob-tails in Pembroke Welsh Corgis. Their hunch was correct: the bob-tail phenotype in this breed is due to a missense mutation (C295G; Ile63Met). Hytönen et al. (… Causal variant(s) - Variant: chromosome 20; nt change XM_038567816.1:c.151C>T; protein XP_038423744.1:p.(R51C); dbSNP rs22915955; pathogenicity class 1; gene C20H19orf28 — OMIA Variant / Variant_Phene Evidence (references) - 1934. Inheritance in Toy Griffons. Journal of Heredity — OMIA Phene_Article / Article - 1957. Brachyury in Cocker Spaniels. Journal of Heredity — OMIA Phene_Article / Article - 2001. Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target leads to a short-tail phenotype. Mammalian Genome — PubMed:PMID11252170 | DOI:10.1007/s003350010253 — OMIA Phene_Article / Article - 2008. Single-nucleotide-polymorphism-based association mapping of dog stereotypes. Genetics — PubMed:PMID18505865 | DOI:10.1534/genetics.108.087866 — OMIA Phene_Article / Article - 2009. Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds. J Hered — PubMed:PMID18854372 | DOI:10.1093/jhered/esn085 — OMIA Phene_Article / Article - 2008. A study of inherited short tail and taillessness in Pembroke Welsh corgi. J Small Anim Pract — PubMed:PMID17850278 | DOI:10.1111/j.1748-5827.2007.00435.x — OMIA Phene_Article / Article - 2019. True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential. PLoS One — PubMed:PMID31658272 | DOI:10.1371/journal.pone.0223995 — OMIA Phene_Article / Article - 2023. The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries. PLoS One — PubMed:PMID36848350 | DOI:10.1371/journal.pone.0281215 — OMIA Phene_Article / Article - 2023. Comprehensive analysis of geographic and breed-purpose influences on genetic diversity and inherited disease risk in the Doberman dog breed. Canine Med Genet — PubMed:PMID37277858 | DOI:10.1186/s40575-023-00130-3 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2017. The genetic origin of short tail in endangered Korean dog, DongGyeongi. Sci Rep — PubMed:PMID28855671 | DOI:10.1038/s41598-017-10106-6 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601397 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615709 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:182940 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [130]

Australian Shepherd — hereditary ataxia (hereditary; OMIA-verified breed predisposition)

Disorder: hereditary ataxia [131]

Clin feat: Abitbol et al. 2022 reported The owners noticed the first signs between 4 and 19 months. They described hypermetria, bunny-hopping, wobbly and stiff gait on the pelvic limbs, and difficulties in walking up or down the stairs and in getting up. The initial neurological examination revealed moderate ataxia, more obvious on the pelvic limbs, with slight hypermetria and slight to no proprioceptive deficits on the pelvic limbs. Two of the five dogs showed discrete intention tremors. These signs suggested symmetrical cerebellar involvement. Motor deficits progressed toward the inability to walk without help from the age of 30 to 44 months. Neurological examination at this stage revealed non-ambulatory tetraparesis or tetraplegia. Severe spasticity of the hind limbs and proprioceptive deficits on all four limbs were present in all affected dogs. An absent menace-response was observed in two dogs. Neuroanatomical diagnosis was therefore suggestive of multifocal central nervous system damage.. Four of the five affected dogs were euthanized between24 and 39 months of age. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244480 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Abitbol et al. (2022) established monogenic autosomal recessive inheritance of the trait. The authors performed whole genome sequencing of an affected Australian Shepherd dog at 20x coverage. Subsequent to mapping and variant calling, homozygous private variants in the affected dog were filtered against 795 control genomes. This search revealed 10 homozygous private variants with SnpEff predicted … Evidence (references) - 2022. A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia. Anim Genet — PubMed:PMID35864734 | DOI:10.1111/age.13245 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:612123 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:251950 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [131]

Australian Stumpy Tail Cattle Dog — Progressive rod-cone degeneration, PRCD-related (hereditary; OMIA-verified breed predisposition)

Breed: Australian Stumpy Tail Cattle Dog (Dog) [86]

Austrian Pinscher — bob-tail, bob tail (hereditary; OMIA-verified breed predisposition)

Breed: Austrian Pinscher (Dog) [130]

Barbet — Progressive rod-cone degeneration, PRCD-related (hereditary; OMIA-verified breed predisposition)

Breed: Barbet (Dog) [86]

Basenji — Pelger-Huet anomaly (hereditary; OMIA-verified breed predisposition)

Breed: Basenji (Dog) [125]

Basenji — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)

Summary: In pyruvate kinase deficiency, the erythrocyte life span is markedly reduced, which leads to severe regenerative hemolytic anemia. Clinical signs include intermittent weakness, moderate hepatosplenomegaly at less than one year of age and bone marrow and liver failure by 5 years of age. Pyruvate kinase deficiency has been identified in multiple breeds. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [132]

Clin feat: Affected dogs present as young adults with signs of severe macrocytic hypochromic regenerative hemolytic anemia, such as intermittent weakness. Moderate hepatosplenomegaly occurs by one year of age, followed by progressive osteosclerosis and myelofibrosis. Bone marrow and liver failure typically occur by 5 years of age. Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity (Giger et al., 1991). Bone marrow transplants have been used to alleviate clinical signs in affected dogs (Takatu et al., 2003). [132]

Pathology: Red blood cells are dependent on ATP generated through glycolysis to maintain their Na/K pumps. Pyruvate kinase is a key enzyme in anaerobic glycolysis, converting phosphoenolpyruvate to pyruvate. Deficiency leads to inadequate ATP production, erythrocyte lysis or premature erythrocyte destruction by the spleen. Normal canine erythrocyte life span is approximately one month, whereas in affected dogs, the erythrocyte half-life is a few days (Giger et al., 1991). There are DNA tests available to detect the known causative mutations in basenjis and West Highland white terriers. Tests for erythrocyte pyruvate kinase activity are not accurate for diagnosis. There are other isoforms of pyruvate kinase in the dog that are encoded by different genes. The R-type is the only isoform expressed in normal canine erythrocytes. Affected dogs lack the R isoform, but enzyme activity in their erythrocytes typically appears elevated due to activity of the M2 isoform, (Whitney et al., 2005). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 406183 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Whitney et al. (1994) showed that the causative mutation in Basenjis is a single base-pair deletion (omia.variant:897) in exon 5 of the gene encoding R-type pyruvate kinase (PKLR). The causative mutation in West Highland white terriers is a 6 base pair insertion (omia.variant:898) in exon 1… Evidence (references) - 1975. Pyruvate kinase deficiency anemia with terminal myelofibrosis and osteosclerosis in a Beagle. Journal of the American Veterinary Medical Association — PubMed:PMID1141034 — OMIA Phene_Article / Article - 1969. Familial anemia in the Basenji dog. Journal of the American Veterinary Medical Association — PubMed:PMID5812576 — OMIA Phene_Article / Article - 1990. Inherited Erythrocyte Pyruvate Kinase Deficiency in the West Highland White Terrier. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1991. Determination of Erythrocyte Pyruvate Kinase Deficiency in Basenjis with Chronic Hemolytic Anemia. Journal of the American Veterinary Medical Association — PubMed:PMID2071475 — OMIA Phene_Article / Article - 1992. Pyruvate Kinase Deficiency Causing Hemolytic Anemia with Secondary Hemochromatosis in a Cairn Terrier. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1992. Osmotic Stress in Red Blood Cells from Beagles with Hemolytic Anemia. American Journal of Veterinary Research — PubMed:PMID1510326 — OMIA Phene_Article / Article - 1994. The molecular basis of canine pyruvate kinase deficiency. Experimental Hematology — PubMed:PMID7520391 — OMIA Phene_Article / Article - 1995. Genetic test for pyruvate kinase deficiency of basenjis. Journal of the American Veterinary Medical Association — PubMed:PMID7559024 — OMIA Phene_Article / Article - 1999. Erythrocyte pyruvate kinase deficiency causing chronic hemolytic anemia and osteosclerosis in a longhaired dachshund [German]. Kleintierpraxis — OMIA Phene_Article / Article - 1999. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. American Journal of Veterinary Research — PubMed:PMID10490091 — OMIA Phene_Article / Article - 1971. Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med — PubMed:PMID4251418 — OMIA Phene_Article / Article - 2003. Adoptive immunotherapy to increase the level of donor hematopoietic chimerism after nonmyeloablative marrow transplantation for severe canine hereditary hemolytic anemia. Biol Blood Marrow Transplant — PubMed:PMID14652850 | DOI:10.1016/j.bbmt.2003.08.005 — OMIA Phene_Article / Article - (5 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:266200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609712 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [132]

Basenji — Retinal atrophy, progressive, SAG-related (hereditary; OMIA-verified breed predisposition)

Clin feat: While there are multiple types of progressive retinal atrophy (PRA), Basenjis generally obtain late onset PRA (Goldstein et al., 2013). Initially, affected individuals lose their vision in dim light and lose their peripheral visual field, resulting in tunnel vision. Many individuals can maintain forward day vision for years as disease progresses (Goldstein et al., 2013). Retinal thinning (stage I) can typically be detected at five years old, and reduced blood flow through retinal vasculature (stage II) is normally detected around seven years of age (Goldstein et al., 2013). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: ARR (Entrez Gene ID 403906) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Sequencing of the two candidate genes in this region led Goldstein et al. (2013) to the discovery of the causal mutation as a stop-loss or extensionl base substitution in the SAG gene (encoding S-antigen): a "tyrosine to cysteine transition mutation at position CFA25:47,845,680 (c.1216T>C . . .) that changed the normal stop codon to code for the amino acid arginine, which would result in a dedu… Evidence (references) - 2006. Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics — PubMed:PMID16859891 | DOI:10.1016/j.ygeno.2006.05.013 — OMIA Phene_Article / Article - 2013. A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis — PubMed:PMID24019744 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 1974. Canine progressive retinal atrophy. Occurrence by age, breed and sex. Am J Vet Res — OMIA Phene_Article / Article - 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:258100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613758 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:181031 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [133]

Basenji — spontaneous Fanconi syndrome, idiopathic Fanconi syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: spontaneous Fanconi syndrome, idiopathic Fanconi syndrome [134]

Summary: Information listed here was previously listed under OMIA:000366-9615: Fanconi syndrome in Canis lupus familiaris [134]

Clin feat: Fanconi syndrome is a rare condition in dogs which results in abnormal renal function. More specifically, it causes reduced function of the proximal convoluted tubules (Yearley et al., 2004), resulting in reduced reabsorption of water, nutrients and electrolytes from the tubular fluid and their eventual loss in urine. The clinical consequences of this disease for the animal include polyuria and polydipsia, dehydration, weight loss and muscle weakness (Yearley et al., 2004). Most cases progress to renal failure within a few years of the onset of initial clinical signs Bovée et al. (1978, PMID:684432). [134]

Gen test: The [website of the Orthopedic Foundation for Animals (OFA)] reports the availability of a DNA test for this disorder in the Basenji breed. The basis of this test was initially described in a PhD thesis by Farias (2011) and a conference proceeding (Farias et al., 2012). Thanks to Mario Van Poucke and Kathy Davies for alerting FN to this thesis. The detailed information was published in 2024 (Farias et al. 2024). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: MTMR15 (Entrez Gene ID 388246875) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: In an unpublished thesis, Farias (2011) reported whole-genome sequencing one affected Basenji and three unaffected dogs from other breeds, which eventually led to identification of a candidate causal mutation: "317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3’ untranslated region of FAN1" (the gene encoding Fanconi anemia-associated nuclease 1). This… Evidence (references) - 1978. The Fanconi syndrome in Basenji dogs: a new model for renal transport defects. Science — PubMed:PMID684432 | DOI:10.1126/science.684432 — OMIA Phene_Article / Article - 1976. Glucosuria associated with renal tubular dysfunction in three Basenji dogs. J Am Vet Med Assoc — PubMed:PMID1270337 — OMIA Phene_Article / Article - 1990. Prevalence and geographic distribution of Fanconi syndrome in Basenjis in the United-States. J Am Vet Med Assoc — PubMed:PMID2391269 — OMIA Phene_Article / Article - 1992. Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome. Metabolism — PubMed:PMID1542263 | DOI:10.1016/0026-0495(92)90267-e — OMIA Phene_Article / Article - 1994. Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome. Metabolism — PubMed:PMID8084281 | DOI:10.1016/0026-0495(94)90047-7 — OMIA Phene_Article / Article - 2005. [Inventory of Fanconi syndrome in Basenji dogs in The Netherlands]. Tijdschr Diergeneeskd — PubMed:PMID16130757 — OMIA Phene_Article / Article - 2004. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc — PubMed:PMID15328712 | DOI:10.2460/javma.2004.225.377 — OMIA Phene_Article / Article - 1989. Cystinuria in dogs: comparison of the cystinuric component of the Fanconi syndrome in Basenji dogs to isolated cystinuria. Metabolism — PubMed:PMID2909832 | DOI:10.1016/0026-0495(89)90173-x — OMIA Phene_Article / Article - 1982. Renal tubular defects of spontaneous Fanconi syndrome in dogs. Prog Clin Biol Res — PubMed:PMID7122624 — OMIA Phene_Article / Article - 1981. Proline and glucose transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome. Proc Natl Acad Sci U S A — PubMed:PMID6950417 | DOI:10.1073/pnas.78.12.7769 — OMIA Phene_Article / Article - 1979. Characterization of renal defects in dogs with a syndrome similar to the Fanconi syndrome in man. J Am Vet Med Assoc — PubMed:PMID438041 — OMIA Phene_Article / Article - 1978. Spontaneous Fanconi syndrome in the dog. Metabolism — PubMed:PMID619225 | DOI:10.1016/0026-0495(78)90122-1 — OMIA Phene_Article / Article - (4 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:613534 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614817 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [134]

Basset Bleu de Gascogne — Neuronal ceroid lipofuscinosis, 7 (hereditary; OMIA-verified breed predisposition)

Breed: Basset Bleu de Gascogne (Dog) [135]

Clin feat: Guo et al. (2015): progressive neurological decline that included blindness, anxiety, and cognitive impairment. A diagnosis of neuronal ceroid lipofuscinosis was made based on neurological signs, magnetic resonance imaging of the brain, and fluorescence microscopic and electron microscopic examination of brain sections. Similar clinical signs were also observed in Chihuahuas (Faller et al. 2016). Rietmann et al. (2024) investigated two Small Swiss Hound littermates that showed progressive ataxia and loss of cognitive functions and vision starting around the age of 12 months. Both dogs had to be euthanized a few months after the onset of disease owing to the severity of their clinical signs. [135]

Pathology: Both the cerebellum and the cerebral cortex exhibited massive intracellular accumulations of autofluorescent material with a golden yellow emission under blue light illumination.... In the cerebellum storage material was most prominent in the Purkinje cells, but substantial amounts of this material were also present in the granular layer.... Perinuclear accumulations of autofluorescent storage granules were observed in neurons throughout the cerebral cortex (Guo et al., 2015) The pathology of affected Chihuahuas was described by Faller et al. (2016). Rietmann et al. (2024): Pathological investigation of one affected [Small Swiss Hound] dog revealed cerebral and cerebellar atrophy with cytoplasmic accumulation of autofluorescent material in degenerating neurons. [135]

Prevalence: Pervin et al. (2022) investigated the c.846delT allele in 1007 Chihuahuas in Japan and identified a carrier rate of 1.29%, indicating a mutant allele frequency (0.00645). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244653 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Small deletion (omia.variant:551): "c.843delT is predicted to cause a frame shift and premature stop codon resulting in a truncated protein, MFSD8:p.F282Lfs13*, missing its 239 C-terminal amino acids" in the Chinese Crested breed (Guo et al., 2015). Faller et al. (2016) demonstrated that the same genetic variant is also present in Chihuahuas with neuronal ceroid lipofuscinosis 7. Karli et al. (201… Evidence (references) - 2015. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Vet Res — PubMed:PMID25551667 | DOI:10.1186/s12917-014-0181-z — OMIA Phene_Article / Article - 2016. The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?. J Neurosci Res — PubMed:PMID26762174 | DOI:10.1002/jnr.23710 — OMIA Phene_Article / Article - 2016. MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. Anim Genet — PubMed:PMID27145727 | DOI:10.1111/age.12449 — OMIA Phene_Article / Article - 2016. Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. Mol Genet Metab — PubMed:PMID27211611 | DOI:10.1016/j.ymgme.2016.05.008 — OMIA Phene_Article / Article - 2017. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis — PubMed:PMID28860089 | DOI:10.1016/j.nbd.2017.08.017 — OMIA Phene_Article / Article - 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article - 2021. International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med — PubMed:PMID33769611 | DOI:10.1111/jvim.16108 — OMIA Phene_Article / Article - 2022. Screening and carrier rate of neuronal ceroid lipofuscinosis in Chihuahua dogs in Japan. Animals (Basel) — PubMed:PMID35565635 | DOI:10.3390/ani12091210 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article - 2024. Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis. Anim Genet — PubMed:PMID39434657 | DOI:10.1111/age.13485 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610951 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611124 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [135]

Basset Fauve de Bretagne — Weill-Marchesani-like syndrome; goniodysgenesis (hereditary; OMIA-verified breed predisposition)

Breed: Basset Fauve de Bretagne (Dog) [136]

Disorder: Weill-Marchesani-like syndrome; goniodysgenesis [136]

Summary: see also OMIA 000588-9615: Lens luxation in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26591637 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2015. Two independent mutations in ADAMTS17 are associated with primary open angle glaucoma in the Basset Hound and Basset Fauve de Bretagne breeds of dog. PLoS One — PubMed:PMID26474315 | DOI:10.1371/journal.pone.0140436 — OMIA Phene_Article / Article - 2015. Genetics of canine primary glaucomas. Vet Clin North Am Small Anim Pract — PubMed:PMID26277300 | DOI:10.1016/j.cvsm.2015.06.003 — OMIA Phene_Article / Article - 2016. Correction: Two independent mutations in ADAMTS17 are associated with primary open angle glaucoma in the Basset Hound and Basset Fauve de Bretagne breeds of dog. PLoS One — PubMed:PMID27192202 | DOI:10.1371/journal.pone.0156192 — OMIA Phene_Article / Article - 2015. Definition, classification, and pathophysiology of canine glaucoma. Vet Clin North Am Small Anim Pract — PubMed:PMID26456751 | DOI:10.1016/j.cvsm.2015.06.002 — OMIA Phene_Article / Article - 2017. Genetic and biochemical biomarkers in canine glaucoma. Vet Pathol — PubMed:PMID27681326 | DOI:10.1177/0300985816666611 — OMIA Phene_Article / Article - 2018. Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both. Am J Vet Res — PubMed:PMID29287154 | DOI:10.2460/ajvr.79.1.98 — OMIA Phene_Article / Article - 2019. Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma. Canine Genet Epidemiol — PubMed:PMID31131111 | DOI:10.1186/s40575-019-0071-6 — OMIA Phene_Article / Article - 2017. Open-angle glaucoma in the Petit Basset Griffon Vendeen. Vet Ophthalmol — PubMed:PMID26945802 | DOI:10.1111/vop.12369 — OMIA Phene_Article / Article - 2015. A novel genome-wide association study approach using genotyping by exome sequencing leads to the identification of a primary open angle glaucoma associated inversion disrupting ADAMTS17. PLoS One — PubMed:PMID26683476 | DOI:10.1371/journal.pone.0143546 — OMIA Phene_Article / Article - 2015. Ocular Disorders Presumed to be Inherited in Purebred Dogs (“The Blue Book”), 8th edition — OMIA Phene_Article / Article - 2017. Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. Sci Rep — PubMed:PMID28176809 | DOI:10.1038/srep41871 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - (1 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:613195 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607511 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [136]

Basset Hound — CalDAG-GEFI thrombopathia; CalDAG-GEFI platelet disorder (hereditary; OMIA-verified breed predisposition)

Breed: Basset Hound (Dog) [87]

Basset Hound — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)

Summary: Two FGF4 retrogenes (FGF4L1 on chromosome 18 [omia.variant:694] and FGF4L2 on chromosome 12 [omia.variant:853]) have been identified to cause dwarfism across many dog breeds. Some breeds are nearly homozygous for both retrogenes (e.g., Dachshunds) and others are homozygous for just one (e.g., Beagles and Scottish Terriers) (Bannasch et al., 2022) [137]

Clin feat: Even though chondrodysplasia is normally regarded as a defect, this canine mutation is not classified as a defect because, as noted by Parker et al. (2009), it is a a short-legged phenotype that defines at least 19 dog breeds including dachshund, corgi, and basset hound. [137]

Prevalence: Parker et al. (2009) reported that the CFA18 FGF4 retrogene insertion is fixed (i.e. freq = 1) in 15 chondrodysplastic breeds. [137]

Control: Bannash et al. (2022) recommend that Selectively breeding dogs with FGF4L1 and without FGF4L2 would likely lead to a reduction in the FGF4L2-related risk of intervertebral disc herniation while maintaining the reduction in leg length resulting from FGF4L1. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298785 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Sequencing within the candidate region (see Mapping section) by Parker et al. (2009) revealed the likely causal mutation to be a 5kb insertion containing a FGF4 retrogene, i.e. a processed pseudogene of FGF4: "Neither the introns nor the upstream promoter sequences of the gene were present in the insert, however all exons were present, with no alterations in the coding sequence, as well as the 3’ … Evidence (references) - 1975. Morphological studies of the canine intervertebral disc: the assignment of the Beagle to the achondroplastic classification. Res Vet Sci — PubMed:PMID1166121 — OMIA Phene_Article / Article - 2009. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science — PubMed:PMID19608863 | DOI:10.1126/science.1173275 — OMIA Phene_Article / Article - 2008. SNPS in the promoter regions of the canine RMRP and SHOX genes are not associated with canine chondrodysplasia. Anim Biotechnol — PubMed:PMID18228171 | DOI:10.1080/10495390701638328 — OMIA Phene_Article / Article - 2010. Localization of canine brachycephaly using an across breed mapping approach. PLoS One — PubMed:PMID20224736 | DOI:10.1371/journal.pone.0009632 — OMIA Phene_Article / Article - 2009. Genetics. More than just a copy. Science — PubMed:PMID19696341 | DOI:10.1126/science.1178487 — OMIA Phene_Article / Article - 1952. A pathologic-anatomical study on disc degeneration in dog, with special reference to the so-called enchondrosis intervertebralis. Acta Orthop Scand Suppl — PubMed:PMID14923291 | DOI:10.3109/ort.1952.23.suppl-11.01 — OMIA Phene_Article / Article - 1951. A pathologic-anatomical interpretation of disc degeneration in dogs. Acta Orthop Scand — PubMed:PMID14894198 | DOI:10.3109/17453675108991175 — OMIA Phene_Article / Article - 2017. FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A — PubMed:PMID29073074 | DOI:10.1073/pnas.1709082114 — OMIA Phene_Article / Article - 2020. Multiple FGF4 retrocopies recently derived within canids. Genes (Basel) — PubMed:PMID32717834 | DOI:10.3390/genes11080839 — OMIA Phene_Article / Article - 2022. The effects of FGF4 retrogenes on canine morphology. Genes (Basel) — PubMed:PMID35205370 | DOI:10.3390/genes13020325 — OMIA Phene_Article / Article - 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article - 2024. Case report: FGF4L1 retrogene insertion is lacking in the tall dachshund phenotype. Front Vet Sci — PubMed:PMID39830166 | DOI:10.3389/fvets.2024.1522745 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:164980 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [137]

Basset Hound — Coat colour, saddle tan vs black-and-tan (hereditary; OMIA-verified breed predisposition)

Summary: Dreger et al. (2013) identified a duplication in an intron of the RALY gene encoding hnRNP associated with lethal yellow that discriminated black-and-tan and saddle tan Basset Hounds and Pembroke Welsh Corgis. The RALY gene is located upstream of ASIP and the intronic duplication is in linkage disequilibrium with the likely causal variant in the ventral promoter of ASIP identified by Bannasch et al. (2021). For more detail on the likely causal variant in the ASIP promoter see OMIA 000201-9615: Coat colour, agouti in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: agouti (Entrez Gene ID 492296) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 2013. Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in Basset Hounds and Pembroke Welsh Corgis. J Hered — PubMed:PMID23519866 | DOI:10.1093/jhered/est012 — OMIA Phene_Article / Article - 2019. True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential. PLoS One — PubMed:PMID31658272 | DOI:10.1371/journal.pone.0223995 — OMIA Phene_Article / Article - 2021. Genomic regions associated with variation in pigmentation loss in saddle tan Beagles. Genes (Basel) — PubMed:PMID33672409 | DOI:10.3390/genes12020316 — OMIA Phene_Article / Article - 2021. Dog colour patterns explained by modular promoters of ancient canid origin. Nat Ecol Evol — PubMed:PMID34385618 | DOI:10.1038/s41559-021-01524-x — OMIA Phene_Article / Article - 2023. Analysis of Doberman Pinscher and Toy Poodle samples with targeted next-generation sequencing. Gene — PubMed:PMID36427679 | DOI:10.1016/j.gene.2022.147069 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600201 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [138]

Basset Hound — Ectodermal dysplasia, X-linked; X-linked hypohidrotic ectodermal dysplasia (XLHED); congenital hypotrichosis; anhidrotic ectodermal dysplasia (hereditary; OMIA-verified breed predisposition)

Disorder: Ectodermal dysplasia, X-linked; X-linked hypohidrotic ectodermal dysplasia (XLHED); congenital hypotrichosis; anhidrotic ectodermal dysplasia [139]

Summary: X-linked ectodermal dysplasia is an inherited skin condition characterized by absent or abnormal teeth, hypotrichosis, and absent sweat glands. Other signs include decreased tear production, decreased mucociliary clearance, and symmetrical hairlessness. Affected animals are more susceptible to pulmonary infectious disease than normal dogs. Chronic nasal and ocular discharges are common, as are corneal ulceration and chronic demodecosis. The causative mutation is a point mutation in the ectodysplasin (EDA, also called ED1) gene. The mode of inheritance is X-linked recessive. Breeding of affected animals or known carriers is not recommended. Edited by Dr. Margret Casal [139]

Clin feat: Affected animals are born with symmetrical hairlessness on the forehead and over the dorsal pelvic area. There is often a history of ophthalmia neonatorum (infection behind closed eye lids in neonates). Affected animals have absent or abnormal secondary hairs (Casal et al., 2005, Mauldin et al., 2009). A large number of teeth are missing. Premolars are rarely present and canines, when present, are thinner than normal and pointed outward. Teeth that are present are conically shaped. Most notably molars and incisors, when present, are misshapen and small (Lewis et al., 2010). Signs also include absent sweat glands, decreased tear production, decreased mucociliary clearance in the respiratory tract and symmetrical hypotrichosis. Affected dogs are more susceptible to pulmonary infectious disease than normal dogs. Chronic nasal and ocular discharge are common, as are corneal ulcerations (Casal et al., 2005, Casal et al., 2007, Mauldin et al., 2009). [139]

Pathology: Ectodysplasin A is a key component in ectodermal appendage formation. The gene is transcribed as several splice variants, two of which encode the proteins EDA-A1 and EDA-A2. EDA-A1 binds the receptor EDAR. Anhidrotic ectodermal dysplasia is caused by failure of the ligand-receptor interaction during the development of skin and its appendages, which is necessary for correct development of hair follicles and tooth buds (Kowalczyk et al., 2011, Casal et al., 2005). Histological examination of hairless skin and foot pads shows an absence of hair follicles, adnexal structures, and eccrine glands. Bronchial, tracheal, and esophageal glands are also absent (Casal et al., 1997, Casal et al., 2007, Mauldin et al., 2009). Epidermal hyperpigmentation and orthokeratotic hyperkeratosis are common findings (Moura et al., 2004). [139]

Prevalence: Because the mode of inheritance is X-linked recessive, the condition occurs more often in males. [139]

Control: Breeding of affected animals or known carriers is not recommended. [139]

Gen test: There is a test available to detect the causative mutation in the German Shepherd and in Dachshund. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 491935 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By adopting a comparative positional cloning approach, involving a linkage analysis as described in the Mapping section, Casal et al. (2005) discovered that the causative mutation of XHED in the colony of German shepherd dogs described by Casal et al. (1997) is a "nucleotide substitution (G to A) in the splice acceptor site of intron 8 . . . In the presence of the A residue, a cryptic acceptor sit… Evidence (references) - 1997. X-linked ectodermal dysplasia in the dog. Journal of Heredity — PubMed:PMID9419891 — OMIA Phene_Article / Article - 1985. Congenital hypotrichosis in male Basset Hound littermates. Journal of the American Veterinary Medical Association — PubMed:PMID4055508 — OMIA Phene_Article / Article - 1986. Congenital alopecia in a Bichon Frise. Journal of the American Veterinary Medical Association — PubMed:PMID3710892 — OMIA Phene_Article / Article - 1984. Congenital hypotrichosis in two dogs. Journal of the American Veterinary Medical Association — PubMed:PMID6746381 — OMIA Phene_Article / Article - 1970. Congenital ectodermal dysplasia in male miniature poodles. Archives of Dermatology — PubMed:PMID5462764 — OMIA Phene_Article / Article - 1977. Heritability of an ectodermal defect. A study of affected dogs. J Dermatol Surg Oncol — PubMed:PMID579352 | DOI:10.1111/j.1524-4725.1977.tb00369.x — OMIA Phene_Article / Article - 2004. Clinical and genetic aspects of X-linked ectodermal dysplasia in the dog -- a review including three new spontaneous cases. Vet Dermatol — PubMed:PMID15500478 | DOI:10.1111/j.1365-3164.2004.00407.x — OMIA Phene_Article / Article - 2005. Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency. Vet Immunol Immunopathol — PubMed:PMID15946744 | DOI:10.1016/j.vetimm.2005.04.005 — OMIA Phene_Article / Article - 2005. Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm Genome — PubMed:PMID16151697 | DOI:10.1007/s00335-004-2463-4 — OMIA Phene_Article / Article - 2007. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet — PubMed:PMID17924345 | DOI:10.1086/521988 — OMIA Phene_Article / Article - 2010. Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs. Orthod Craniofac Res — PubMed:PMID20078794 | DOI:10.1111/j.1601-6343.2009.01473.x — OMIA Phene_Article / Article - 2011. Molecular and therapeutic characterization of anti-ectodysplasin A receptor (EDAR) agonist monoclonal antibodies. J Biol Chem — PubMed:PMID21730053 | DOI:10.1074/jbc.M111.267997 — OMIA Phene_Article / Article - (10 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:305100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300451 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [139]

Basset Hound — Grey Collie Syndrome; Gray Collie Syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Grey Collie Syndrome; Gray Collie Syndrome [140]

Summary: Cyclic neutropenia, also known as cyclic hematopoiesis or Grey/Gray Collie Syndrome, is characterized by cyclic fluctuations in the numbers of leucocytes, particularly neutrophils. Affected animals have an associated coat color dilution, producing a gray coat color. Affected dogs have cyclic reductions in leucocyte numbers, particularly neutrophils, which are associated with recurrent fever, anorexia, and severe infections, often life threatening. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [140]

Clin feat: Clinical signs are associated with severe neutropenia, and include recurrent fever, anorexia, and severe infections, which can be life threatening (Dale et al., 1972, Pacheco et al., 2008). Affected animals have an associated coat color dilution, producing a gray coat color. [140]

Pathology: AP3 is a protein complex on the cytosolic side of membrane-bound vesicles, and directs proteins from the Golgi apparatus to lysosomes. The beta subunit of AP3 recognizes neutrophil elastase (ELA2) as its cargo and transports it to lysosomal granules. In the absence of normally functioning AP3B1, ELA2 is not transported to the correct location, and does not function properly. Neutrophils of affected dogs have elastase deficiency and accumulate elastase precursor proteins in their primary granules (Meng et al., 2010). [140]

Prevalence: The prevalence of the mutant allele in the Collie breed is unknown. Lee et al. (2022) reported a mixed-breed puppy with the same clinical signs of this disorder as seen in Collies, and which was homozygous for the likely causal insertion variant reported in Collies (OMIA variant 580). However, the authors reported that The puppy does not have phenotypic features suggestive of a collie and is presumed to be a cross between a Labrador Retriever and a Mastiff. Consequently, they concluded that the AP3B1 mutation and CH are present within the general canine population and are not restricted to collies. [140]

Control: Parents of affected dogs are carriers. Siblings of affected dogs should be tested for the causative mutation. It is recommended that carriers only be bred to noncarriers, in which case, testing of offspring is advisable. [140]

Gen test: A test is available to detect the causative mutation. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403459 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Benson et al. (2003) showed that the causative mutation is a single base pair insertion in exon 20 of AP3 beta gene (AP3B1), which encodes the beta 3A subunit of adaptor protein complex 3 (AP3). This causes a frame shift in the amino acid code, and ultimately premature termination of AP3 mR… Causal variant(s) - Variant: chromosome 1; pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1971. Cyclic urinary leukopoietic activity in gray collie dogs. Science — PubMed:PMID5581910 | DOI:10.1126/science.173.3992.152 — OMIA Phene_Article / Article - 1972. Cyclic hematopoiesis: the mechanism of cyclic neutropenia in Grey Collie dogs. Journal of Clinical Investigation — PubMed:PMID5054472 | DOI:10.1172/JCI107027 — OMIA Phene_Article / Article - 1972. Studies of neutrophil production and turnover in gray Collie dogs with cyclic neutropenia. J Clin Invest — PubMed:PMID5054471 | DOI:10.1172/JCI107026 — OMIA Phene_Article / Article - 1973. Cyclic hematopoiesis in grey Collie dogs: a stem cell problem. Blood — PubMed:PMID4796766 — OMIA Phene_Article / Article - 1974. Regulation of cyclic erthropoiesis in the Grey Collie. Journal of Clinical Investigation — OMIA Phene_Article / Article - 1978. Cell proliferation of canine cyclic hematopoietic marrow in diffusion chambers. Proc Soc Exp Biol Med — PubMed:PMID351627 | DOI:10.3181/00379727-158-40137 — OMIA Phene_Article / Article - 1967. Cyclic neutropenia in grey collie dogs. Blood — PubMed:PMID6067150 — OMIA Phene_Article / Article - 1974. Hematopoiesis in the Grey Collie dog : studies of the regulation of erythropoiesis. Journal of Clinical Investigation — PubMed:PMID4430726 | DOI:10.1172/JCI107837 — OMIA Phene_Article / Article - 1975. The Grey Collie syndrome (cyclic neutropenia). Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1970. Additional evidence on the inheritance of cyclic neutropenia in the dog. J Hered — PubMed:PMID5529685 | DOI:10.1093/oxfordjournals.jhered.a108033 — OMIA Phene_Article / Article - 1978. Recovery of hair coat colour in Gray Collie (cyclic neutropenia) normal bone marrow transplant chimeras. American Journal of Pathology — PubMed:PMID347941 — OMIA Phene_Article / Article - 1971. Serum immunoglobulin levels in Grey Collies. Society for Experimental Biology and Medicine — OMIA Phene_Article / Article - (74 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:608233 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603401 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [140]

Basset Hound — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)

Gen test: Barrientos et al. (2019): WGS [whole-genome sequencing] based on a PCR‐free DNA library is a suitable method for genotyping this variant. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26581065 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: In the first example of an inherited disorder in domesticated animals being shown to be due to an expanded repeat, and following a comparative positional cloning strategy (see Mapping section above), Lohi et al. (2005) reported affected Miniature Wirehaired Dachshunds as having 19 to 26 copies of a sequence of 12 nucleotides (12-mer; dodecamer) in the canine EPM2B gene (now called NHLRC1). This re… Causal variant(s) - Variant: chromosome 2; pathogenicity class 1; gene ZFHX1B — OMIA Variant / Variant_Phene Evidence (references) - 1976. Inherited progressive epilepsy of the dog with comparisons to Lafora's disease of man. Federation Proceedings — PubMed:PMID1261712 — OMIA Phene_Article / Article - 1990. Laforas Disease in an Epileptic Basset Hound. New Zealand Veterinary Journal — OMIA Phene_Article / Article - 1990. Laforas Disease in a Dog. Australian Veterinary Journal — PubMed:PMID2165776 — OMIA Phene_Article / Article - 2002. Polyglucosan storage disease in a dog resembling Lafora's disease. Journal of Veterinary Internal Medicine — PubMed:PMID11899039 — OMIA Phene_Article / Article - 2005. Canine epilepsy gene mutation identified. Lancet Neurol — PubMed:PMID15744941 — OMIA Phene_Article / Article - 2005. Expanded repeat in canine epilepsy. Science — PubMed:PMID15637270 | DOI:10.1126/science.1102832 — OMIA Phene_Article / Article - 2011. DNA screening for Lafora's disease in miniature wire-haired dachshunds. Vet Rec — PubMed:PMID21908571 | DOI:10.1136/vr.d5698 — OMIA Phene_Article / Article - 2013. Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc — PubMed:PMID23683021 | DOI:10.2460/javma.242.11.1549 — OMIA Phene_Article / Article - 2013. Inherited epilepsy in dogs. Top Companion Anim Med — PubMed:PMID24070682 | DOI:10.1053/j.tcam.2013.07.001 — OMIA Phene_Article / Article - 2016. NHLRC1 repeat expansion in two beagles with Lafora disease. J Small Anim Pract — PubMed:PMID27747878 | DOI:10.1111/jsap.12593 — OMIA Phene_Article / Article - 2016. Canine versus human epilepsy: are we up to date?. J Small Anim Pract — PubMed:PMID26931499 | DOI:10.1111/jsap.12437 — OMIA Phene_Article / Article - 2017. Lafora disease in miniature Wirehaired Dachshunds. PLoS One — PubMed:PMID28767715 | DOI:10.1371/journal.pone.0182024 — OMIA Phene_Article / Article - (16 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:254780 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608072 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:620681 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [141]

Basset Hound — Persistent Müllerian Duct Syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Persistent Müllerian Duct Syndrome [142]

Summary: Information related to persistent Mullerian duct syndrome due to AMHR2 variants previously listed here has been moved to [OMIA:002775-9615] Persistent Mullerian Duct Syndrome, AMHR2-related [20/09/2023]. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: PMDS (no structured Phene_Gene link) Causal variant(s) - Variant: allele pt; chromosome X; nt change T>A; pathogenicity class 1; gene PLP — OMIA Variant / Variant_Phene Evidence (references) - 1976. Male pseudohermaphroditism, cryptorchism, and Sertoli cell neoplasia in three miniature Schnauzers. J Am Vet Med Assoc — PubMed:PMID10267 — OMIA Phene_Article / Article - 1989. Mullerian Inhibiting Substance Is Present in Testes of Dogs with Persistent Mullerian Duct Syndrome. Biology of Reproduction — PubMed:PMID2576223 — OMIA Phene_Article / Article - 1992. Persistent Mullerian Duct Syndrome in the Basset Hound. Tijdschrift Voor Diergeneeskunde — OMIA Phene_Article / Article - 1993. Mullerian Inhibiting Substance Is Present in Embryonic Testes of Dogs with Persistent Mullerian Duct Syndrome. Biology of Reproduction — PubMed:PMID8318594 — OMIA Phene_Article / Article - 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article - 1996. The persistant Mullerian duct syndrome - a hereditary type of male pseudohermaphroditism in a Bassethound [German]. Kleintierpraxis — OMIA Phene_Article / Article - 2004. Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. Vet Rec — PubMed:PMID15499815 — OMIA Phene_Article / Article - 2009. A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Mullerian duct syndrome. J Androl — PubMed:PMID18723470 | DOI:10.2164/jandrol.108.005736 — OMIA Phene_Article / Article - 2009. Malformations of the epididymis, incomplete regression of the mesonephric tubules and hyperplasia of Leydig cells in canine persistence of Müllerian duct syndrome. Anim Reprod Sci — PubMed:PMID19097712 | DOI:10.1016/j.anireprosci.2008.11.008 — OMIA Phene_Article / Article - 1982. Persistent Mullerian duct syndrome in miniature schnauzers. J Am Vet Med Assoc — PubMed:PMID7141975 — OMIA Phene_Article / Article - 2009. A molecular diagnostic test for persistent Müllerian duct syndrome in miniature schnauzer dogs. Sex Dev — PubMed:PMID20051676 | DOI:10.1159/000273264 — OMIA Phene_Article / Article - 2009. Review and update: genomic and molecular advances in sex determination and differentiation in small animals. Reprod Domest Anim — PubMed:PMID19754534 | DOI:10.1111/j.1439-0531.2009.01433.x — OMIA Phene_Article / Article - (13 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:261550 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [142]

Basset Hound — Severe combined immunodeficiency disease, X-linked (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: X-linked [143]

Summary: X-linked severe combined immunodeficiency disease (XSCID) is an immune disorder of basset hounds and Cardigan Welsh corgis. Affected pups have peripheral lymphopenia, with low or absent IgG and IgA, but normal IgM concentrations. Clinical findings include the absence of palpable lymph nodes, a small thymic shadow on radiographs, and chronic recurrent infections. It is invariably lethal. The breed specific mutations in IL2RG lead to production of a truncated protein. Edited by Paula Henthorn, PhD [143]

Clin feat: Affected pups are characterized by failure to thrive, absence of palpable peripheral lymph nodes, small thymic size, and T cells that are unresponsive to proliferative stimulation. Affected pups often succumb to chronic, recurrent, opportunistic infections in varied locations (ear, skin, intestine). Other signs include diarrhea, and intermittent vomiting. Vaccination of affected pups with modified live virus vaccines can induce viremia and clinical signs. Affected pups have peripheral lymphopenia with a normal percentage of B cells and a low to normal percentage of T cells. IgM concentrations are normal, but IgG and IgA concentrations are greatly reduced or absent (Pullen et al., 1997). Even with supportive treatment, affected pups usually die by 4 months of age. [143]

Pathology: IL2RG encodes the common gamma chain, which is a subunit of the receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21. Functional receptors for these cytokines are necessary for leukocyte proliferation, differentiation, survival and function, and their absence causes a severe and ultimately lethal disease (Kennedy et al., 2011). T cells in affected animals do not proliferate in response to mitogens, such as phytohemagglutin (PHA), because they do not express a functional IL-2 receptor. B cells can produce IgM but cannot class switch to IgG (Felsburg et al, 1999). Primary and secondary lymphoid tissue is either reduced in size or totally absent. At necropsy, the thymus is small and dysplastic (Felsburg et al., 1999). [143]

Prevalence: This disorder is rare. [143]

Control: This is an X-linked trait causing severe disease in very young affected males. Thus, the disease reported in both breeds was likely recognized within a few generations of the occurrence of the initial causative mutation (Pullen et al., 1997). Consequently, the mutation was never widely disseminated in either breed, and breed wide testing is not indicated. However, new cases can occur in any breed due to novel mutations. Rapid referral to a specialist is recommended for suspected cases. Female relatives of affected males should be tested to identify carriers. Breeding of carrier females is not recommended. However, males that are free of the disease do not carry the mutation and can be bred. [143]

Basset Hound — glycogen storage disease myopathy (hereditary; OMIA-verified breed predisposition)

Disorder: glycogen storage disease myopathy [144]

Mode of inheritance: Probably autosomal recessive [144]

Clin feat: Blake et al. (2025) report two young adult Basset Hound (BH) littermates presenting with congestive heart failure, pelvic limb weakness, gastro-intestinal upset, and sudden death. [144]

Pathology: Blake et al. (2025): histologically, both cases were characterized by severe myocardial degeneration and necrosis with abundant cardiomyocyte intrasarcoplasmic glycogen accumulation. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299046 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Blake et al. (2025) used whole genome sequencing of affected Basset hounds to identify a likely causal splice site donor variant in RBCK1: CFA24:20,935,568 (RBCK1:XM_038571894.1:c.1044+1G>T; omia.variant:1833). Evidence (references) - 2025. Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. Mol Genet Metab — PubMed:PMID40939526 | DOI:10.1016/j.ymgme.2025.109232 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610924 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615895 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [144]

Beagle — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Beagle (Dog) [68]

Beagle — Congenital stationary night blindness (hereditary; OMIA-verified breed predisposition)

Disorder: Congenital stationary night blindness [145]

Summary: Kondo et al. (2015) reported a naturally occurring disease in the beagle dog that is a model for autosomal recessive [complete Congenital Stationary Night Blindness] cCSNB in man Miyadera et al. (2022) and Takahashi et al. (2023) report extended functional rescue following subretinal gene therapy. [145]

Clin feat: Kondo et al. (2015) reported Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had “negative-type” mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388305346 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Sequencing of candidate genes by Kondo et al. (2015) failed to reveal any likely causal mutations. Das et al. (2019): "whole-genome sequencing identified a 1 bp deletion in LRIT3 segregating with CSNB [in the same Beagle colony as reported by Kondo et al. (2015)]. The canine mutant LRIT3 gives rise to a truncated protein with unaltered subcellular expression in vitro" Evidence (references) - 2015. A naturally occurring canine model of autosomal recessive congenital stationary night blindness. PLoS One — PubMed:PMID26368928 | DOI:10.1371/journal.pone.0137072 — OMIA Phene_Article / Article - 2018. Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs?. Doc Ophthalmol — PubMed:PMID30051304 | DOI:10.1007/s10633-018-9653-y — OMIA Phene_Article / Article - 2020. Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet — PubMed:PMID32189222 | DOI:10.1007/s13353-020-00554-8 — OMIA Phene_Article / Article - 2019. Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness. Sci Rep — PubMed:PMID31578364 | DOI:10.1038/s41598-019-50573-7 — OMIA Phene_Article / Article - 2022. Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3-congenital stationary night blindness. Proc Natl Acad Sci U S A — PubMed:PMID35316139 | DOI:10.1073/pnas.2117038119 — OMIA Phene_Article / Article - 2023. Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness. Vision Res — PubMed:PMID37220680 | DOI:10.1016/j.visres.2023.108260 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Canine models of inherited retinal diseases: from neglect to well-recognized translational value. Mamm Genome — PubMed:PMID39739008 | DOI:10.1007/s00335-024-10091-y — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article - 2025. Correction: Canine models of inherited retinal diseases: from neglect to well-recognized translational value. Mamm Genome — PubMed:PMID39934341 | DOI:10.1007/s00335-025-10108-0 — OMIA Phene_Article / Article - 2025. Gene therapy advances using canine and feline animal models of inherited retinal degeneration. Eye (Lond) — PubMed:PMID40461693 | DOI:10.1038/s41433-025-03825-y — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615004 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615058 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [145]

Beagle — Dew claws, canine preaxial polydactyly (hereditary; OMIA-verified breed predisposition)

Disorder: Dew claws, canine preaxial polydactyly [146]

Clin feat: Park et al. (2008): “Canine preaxial polydactyly (PPD) in the hind limb is a developmental trait that restores the first digit lost during canine evolution. … As described previously (Park et al. 2004), the restored phenotype is slightly overmanifested, generating one or more preaxial digits. As a matter of fact, the external morphology of hind-limb-specific canine PPD is slightly different from other polydactylies in that only the claw is observed as having an extra digit with fibrous tissue connecting the region between the tarsal and the first metatarsal bones, which either is reduced in size or is incomplete with a lesser deposit of bony material (Miller 1979; Park et al. 2004).” Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388304145 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 388304937 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Park et al. (2008) identified within the two identified distinct affected haplotypes for Asian and Western breeds two different single-base changes in the upstream sequence (pZRS) of the ZRS. A G to A variant named DC-1 was found in the 1-kb region upstream of the 5′-end of the ZRS in 150 affected Sapsaree (144 affected dogs were heterozygous G/A and 6 affected dogs homozygous A/A) and six affecte… Evidence (references) - 1941. On the mode of inheritance of dew claws in the domestic dog. Nuova Veterinaria — OMIA Phene_Article / Article - 1954. The inheritance of polydactyly in the domestic dog — OMIA Phene_Article / Article - 1985. Developmental constraints: why St. Bernards often have an extra digit and poodles never do. American Naturalist — OMIA Phene_Article / Article - 2008. Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. Genetics — PubMed:PMID18689889 | DOI:10.1534/genetics.108.087114 — OMIA Phene_Article / Article - 2015. Molecular Genetics of Sex Identification, Breed Ancestry and Polydactyly in the Norwegian Lundehund Breed. J Hered — PubMed:PMID25994807 | DOI:10.1093/jhered/esv031 — OMIA Phene_Article / Article - 2004. Linkage of the locus for canine dewclaw to chromosome 16. Genomics — PubMed:PMID14706450 | DOI:10.1016/s0888-7543(03)00234-9 — OMIA Phene_Article / Article - 1979. Miller's Anatomy of the Dog. Saunders, Philadelphia. Ed. 2. — OMIA Phene_Article / Article - 2004. Molecular origins of rapid and continuous morphological evolution. Proc Natl Acad Sci U S A — PubMed:PMID15596718 | DOI:10.1073/pnas.0408118101 — OMIA Phene_Article / Article - 2024. Ectrodactyly with polydactyly in a dog-Case description and description of surgical therapy with resection and fusion podoplasty. Animals (Basel) — PubMed:PMID38891696 | DOI:10.3390/ani14111647 — OMIA Phene_Article / Article - 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:174500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605522 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:188740 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [146]

Beagle — Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy (hereditary; OMIA-verified breed predisposition)

Disorder: Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy [147]

Clin feat: Alexander disease is a progressive fatal neurodegenerative disease. The observed cases have been found in younger dogs, usually <12 months of age (Wrzosek et al., 2015). Early signs may begin as incoordination, a head tilt, knuckling on limbs, issues with balance, nystagmus and an aversion to touch (Wrzosek et al., 2015). As the disease progresses clinical features are ataxia and paresis in the hindlimbs (Kobatake et al., 2020) and in later stages tetraparesis (Van Poucke et al., 2016). Some patients may experience spastic front limbs along with vestibular signs (e.g., head tilt, strabismus) and myoclonic jerks of the head and cervical regions (Van Poucke et al., 2016). Generalised muscle atrophy, stiffness, regurgitation, increasing difficulty in swallowing and changes in vocalisation can be observed (Van Poucke et al., 2016; Kobatake et al., 2020). [147]

Pathology: Blood examinations reveal no remarkable changes for both complete blood counts and serum biochemistry (Wrzosek et al., 2015, Kobatake et al., 2020). Gross pathological changes are not always obvious in all cases (Wrzosek et al., 2015; Van Poucke et al., 2016), but can include diffuse atrophy of brain and spinal cord (Kobatake et al., 2020), discoloured foci in the brain and spinal cord (Ito et al., 2010) and lateral ventricle enlargement (Alemañ et al., 2006; Weissenböck et al., 1996). Histopathological examination reveals eosinophilic round, club-shaped or elongated deposits that are consistent with Rosenthal fibers (eosinophilic corkscrew bundles), occurring in the astrocytes throughout the central nervous system (Weissenböck et al., 1996; Alemañ et al., 2006; Van Poucke et al., 2016). The Rosenthal fibers are immunopositive for glial fibrillary acidic protein (GFAP). The astrocytes also present with large nuclei, prominent nucleoli, and a glassy eosinophilic cytoplasm (Wrzosek et al., 2015; Van Poucke et al., 2016) and are often distributed around blood vessels in the white matter, beneath the pia matter and subependymal areas (Alemañ et al., 2006; Van Poucke et al., 2016). Demyelination in the brain may or may not be present (Alemañ et al., 2006). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248020 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Van Poucke et al. (2016): "c.719G>A nucleotide substitution resulting in a p.Arg240His substitution was considered to be causal, because it is orthologous to the heterozygous de novo dominant c.716G>A (p.Arg239His) hotspot variant in man, proven to cause a severe phenotype. In addition, the variant was not found in 50 unrelated healthy Labrador retrievers." Evidence (references) - 1996. Alexander's disease in a Bernese mountain dog. Acta Neuropathol — PubMed:PMID8787155 | DOI:10.1007/s004010050414 — OMIA Phene_Article / Article - 1986. Myeloencephalopathy resembling Alexander's disease in a Scottish terrier dog. Acta Neuropathol — PubMed:PMID3776469 | DOI:10.1007/BF00687980 — OMIA Phene_Article / Article - 2006. Rosenthal fiber encephalopathy in a dog resembling Alexander disease in humans. Vet Pathol — PubMed:PMID17099166 | DOI:10.1354/vp.43-6-1025 — OMIA Phene_Article / Article - 2010. Fibrinoid leukodystrophy (Alexander's disease-like disorder) in a young adult French bulldog. J Vet Med Sci — PubMed:PMID20526046 | DOI:10.1292/jvms.10-0085 — OMIA Phene_Article / Article - 2016. A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. Eur J Hum Genet — PubMed:PMID26486469 | DOI:10.1038/ejhg.2015.223 — OMIA Phene_Article / Article - 2020. Long-term survival of a dog with Alexander disease. J Vet Med Sci — PubMed:PMID33055453 | DOI:10.1292/jvms.20-0133 — OMIA Phene_Article / Article - 2015. Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature. BMC Vet Res — PubMed:PMID25985984 | DOI:10.1186/s12917-015-0393-x — OMIA Phene_Article / Article - 1991. Myeloencephalopathy with Rosenthal fiber formation in a miniature poodle. Vet Pathol — PubMed:PMID1771743 | DOI:10.1177/030098589102800612 — OMIA Phene_Article / Article - 2010. Morbus Alexander – 4 Fälle bei Hunden in Österreich. Wien. Tierärztl. Mschr. — OMIA Phene_Article / Article - 2016. A Labrador Retriever diagnosed with Alexander’s disease and the identification of the causal GFAP mutation. J Comp Pathol — DOI:doi.org/10.1016/j.jcpa.2015.10.072 — OMIA Phene_Article / Article - 2023. Diagnostic features of type II fibrinoid leukodystrophy (Alexander disease) in a juvenile Beagle dog. J Vet Intern Med — PubMed:PMID36799664 | DOI:10.1111/jvim.16655 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article - (1 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:203450 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:137780 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [147]

Beagle — Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related (hereditary; OMIA-verified breed predisposition)

Prevalence: At the time of mutation discovery Owczarek-Lipska et al. (2013) estimated the carrier frequency of the CUBN:c.8392delC defect at 6% in a cohort of 203 European Border Collies. Drögemüller et al. (2014) estimated the carrier frequency of the Beagle mutation (c.786delC) to be 9%. Mizukami et al. (2016) reported the frequency of the c.8392delC allele as 0.015 in 500 Border collies in Japan. Fyfe et al. (2018): A population study using a simple allele-specific DNA test indicated mutant allele frequencies of 8.3 and 4.5% among North American and Hungarian Komondors, respectively. [148]

Gen test: Genetic testing for the causative mutation is available. Genetic testing is recommended to confirm the clinical diagnosis in suspected cases. Genetic testing is also recommended for breeding animals to avoid the accidental mating of two carriers, which might lead to affected offspring. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388199252 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Whole genome re-sequencing of one affected Border Collie revealed 17 non-synonymous variants in the critical interval. Two of these variants were perfectly associated with intestinal cobalamin malabsorption in Border Collies. Based on the known functions of the corresponding genes the CUBN:c.8392delC frameshift variant is most likely causative for intestinal cobalamin malabsorption in Border Colli… Evidence (references) - 1991. Inherited Selective Intestinal Cobalamin Malabsorption and Cobalamin Deficiency in Dogs. Pediatric Research — PubMed:PMID1848001 — OMIA Phene_Article / Article - 1991. Defective Brush-Border Expression of Intrinsic Factor- Cobalamin Receptor in Canine Inherited Intestinal Cobalamin Malabsorption. Journal of Biological Chemistry — PubMed:PMID1999430 — OMIA Phene_Article / Article - 1999. Cobalamin deficiency associated with erythroblastic anemia and methylmalonic aciduria in a border collie. J Am Anim Hosp Assoc — PubMed:PMID10493414 | DOI:10.5326/15473317-35-5-392 — OMIA Phene_Article / Article - 2000. Persistent cobalamin deficiency causing failure to thrive in a juvenile beagle. Journal of Small Animal Practice — PubMed:PMID11023127 — OMIA Phene_Article / Article - 2005. Hyperammonaemic encephalopathy secondary to selective cobalamin deficiency in a juvenile Border collie. J Small Anim Pract — PubMed:PMID16035451 | DOI:10.1111/j.1748-5827.2005.tb00330.x — OMIA Phene_Article / Article - 2003. Canine Imerslund-Grasbeck syndrome maps to a region orthologous to HSA14q. Mamm Genome — PubMed:PMID14722725 | DOI:10.1007/s00335-003-2280-1 — OMIA Phene_Article / Article - 1991. Role of the pancreas in the absorption and malabsorption of cobalamin (vitamin B-12) in dogs. J Nutr — PubMed:PMID1941244 — OMIA Phene_Article / Article - 2004. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood — PubMed:PMID14576052 | DOI:10.1182/blood-2003-08-2852 — OMIA Phene_Article / Article - 2005. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood — PubMed:PMID15845892 | DOI:10.1182/blood-2005-03-1197 — OMIA Phene_Article / Article - 2013. A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). PLoS One — PubMed:PMID23613799 | DOI:10.1371/journal.pone.0061144 — OMIA Phene_Article / Article - 2013. Clinical and laboratory findings in border collies with presumed hereditary juvenile cobalamin deficiency. J Am Anim Hosp Assoc — PubMed:PMID23535754 | DOI:10.5326/JAAHA-MS-5867 — OMIA Phene_Article / Article - 1996. Hereditary cobalamin deficiency in border collie dogs. Journal of Veterinary Internal Medicine — OMIA Phene_Article / Article - (12 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:261100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602997 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [148]

Beagle — Invasive transitional cell carcinoma of the bladder; Canine InvTCC; urothelial carcinomas; transitional cell carcinoma; TCC; invasive urinary carcinoma; iUC (hereditary; OMIA-verified breed predisposition)

Disorder: Invasive transitional cell carcinoma of the bladder; Canine InvTCC; urothelial carcinomas; transitional cell carcinoma; TCC; invasive urinary carcinoma; iUC [149]

Mode of inheritance: Somatic mutation [149]

Clin feat: Invasive transitional cell carcinoma usually manifests as a chronic urinary tract infection. The clinical signs are non-specific and include pollakiuria, haematuria, and stranguria commonly in association with other conditions such as urinary tract infection, bladder stones, benign polyps, and cystitis (Thomas et al., 2023). ITCC is usually diagnosed at an advanced stage (invasion of the detrusor muscle), where dogs may experience anuria (mass obstruction/urethral extension) (Thomas et al., 2023). Additionally, survival time can be less than 12 months from the time of diagnosis (Thomas et al., 2023). Gold standard for diagnosis is histopathologic evaluation of tissue biopsies (Thomas et al., 2023). Investigation of associated genes is possible (BRAF V595E + MAP2K1 ) from a urine sample with (droplet digital) PCR, however a negative result does not rule out ITCC (Thomas et al., 2023). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244214 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 388246362 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 398298928 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Decker et al. (2015) reported that "four histologically confirmed canine InvTCC tumors [from] . . . two Scottish terriers, one West Highland white terrier and one Shetland sheepdog . . . harbor a nonsynonymous, single-nucleotide variant at genomic position 8296284 on Canis familiaris chromosome 16 (CFA16), which results in a valine to glutamic acid substitution at codon 595 of canine BRAF . . . . … Evidence (references) - 1989. Epidemiologic study of insecticide exposures, obesity, and risk of bladder cancer in household dogs. J Toxicol Environ Health — PubMed:PMID2593174 | DOI:10.1080/15287398909531360 — OMIA Phene_Article / Article - 2004. Herbicide exposure and the risk of transitional cell carcinoma of the urinary bladder in Scottish Terriers. J Am Vet Med Assoc — PubMed:PMID15112777 — OMIA Phene_Article / Article - 1976. Canine bladder cancer: epidemiologic features. Am J Epidemiol — PubMed:PMID998613 — OMIA Phene_Article / Article - 2000. Naturally-occurring canine transitional cell carcinoma of the urinary bladder: A relevant model of human invasive bladder cancer. Urology Oncology — OMIA Phene_Article / Article - 2015. Homologous mutation to human BRAF V600E is common in naturally occurring canine bladder cancer--Evidence for a relevant model system and urine-based diagnostic test. Mol Cancer Res — PubMed:PMID25767210 | DOI:10.1158/1541-7786.MCR-14-0689 — OMIA Phene_Article / Article - 2019. [Detection of BRAF mutation in canine prostatic diseases]. Tierarztl Prax Ausg K Kleintiere Heimtiere — PubMed:PMID31627222 | DOI:10.1055/a-0987-8212 — OMIA Phene_Article / Article - 2021. Phase I/II trial of vemurafenib in dogs with naturally occurring, BRAF-mutated urothelial carcinoma. Mol Cancer Ther — PubMed:PMID34433660 | DOI:10.1158/1535-7163.MCT-20-0893 — OMIA Phene_Article / Article - 2022. BRAF mutation status and its prognostic significance in 79 canine urothelial carcinomas: A retrospective study (2006-2019). Vet Comp Oncol — PubMed:PMID34878687 | DOI:10.1111/vco.12790 — OMIA Phene_Article / Article - 2022. Identification of a naturally-occurring canine model for early detection and intervention research in high grade urothelial carcinoma. Front Oncol — PubMed:PMID36439482 | DOI:10.3389/fonc.2022.1011969 — OMIA Phene_Article / Article - 2019. Naturally-occurring invasive urothelial carcinoma in dogs, a unique model to drive advances in managing muscle invasive bladder cancer in humans. Front Oncol — PubMed:PMID32039002 | DOI:10.3389/fonc.2019.01493 — OMIA Phene_Article / Article - 2014. Urinary bladder cancer in dogs, a naturally occurring model for cancer biology and drug development. ILAR J — PubMed:PMID24936033 | DOI:10.1093/ilar/ilu018 — OMIA Phene_Article / Article - 2023. Whole exome sequencing analysis of canine urothelial carcinomas without BRAF V595E mutation: Short in-frame deletions in BRAF and MAP2K1 suggest alternative mechanisms for MAPK pathway disruption. PLoS Genet — PubMed:PMID37079639 | DOI:10.1371/journal.pgen.1010575 — OMIA Phene_Article / Article - (23 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:164757 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:620340 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:176872 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [149]

Beagle — Musladin-Lueke syndrome, Chinese beagle syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Musladin-Lueke syndrome, Chinese beagle syndrome [150]

Clin feat: As reported by Bader et al. (2010), this disorder is characterized by short stature, thick, taut skin, and severely restricted joint mobility... Affected dogs also have broad skulls with wide-set slanted eyes, creased ears, a hopping, “tip-toe” gait, and pleasant temperaments. Additionally, cardiac disease has been reported as possibly associated with Muscladin-Lueke syndrome, but reports are inconsistent (Packer et al., 2017). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26593484 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Fine-mapping followed by sequencing of likely positional candidate genes resulted in Bader et al (2010) identifying the causal mutation as a missense mutation in ADAMTSL2: "(c.660C>T) predicted a non-synonymous change, converting an arginine to a cysteine at codon 221 (R221C), occurred in a highly conserved stretch of residues, and was computationally predicted to negatively impact protein stru… Evidence (references) - 2010. An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. PLoS One — PubMed:PMID20862248 | DOI:10.1371/journal.pone.0012817 — OMIA Phene_Article / Article - 1990. "The New Beagle", Howell Book House, New York — OMIA Phene_Article / Article - 1998. "The New Beagle", Howell Book House, New York (2nd edn) — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2017. Clinical phenotype of Musladin-Lueke syndrome in 2 Beagles. J Vet Intern Med — PubMed:PMID28158899 | DOI:10.1111/jvim.14654 — OMIA Phene_Article / Article - 2026. Comprehensive diagnosis and management of Musladin-Lueke syndrome in a Beagle in Japan. J Vet Med Sci — PubMed:PMID42324135 | DOI:10.1292/jvms.26-0135 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:231050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612277 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [150]

Beagle — Neonatal cerebellar cortical degeneration (hereditary; OMIA-verified breed predisposition)

Disorder: Neonatal cerebellar cortical degeneration [151]

Summary: Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SPTBN2 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered. The SPTBN2 associated canine disorder represents a model for spinocerebeallar ataxia, autosomal recessive 14, and possibly also spinocerebellar ataxia 5 in humans (see MIM links above). [151]

Clin feat: A (single) four- week- old male beagle puppy with a ten-day history of severe cerebellar ataxia was investigated. The dog was the only affected one from a litter of seven puppies. The breeder noticed that the affected puppy was not able to ambulate normally from the onset of walking and the clinical signs had remained stable since then. The puppy was otherwise eating and drinking well and there were no signs of systemic illness in the littermates, in the dam (also during gestation) or in the sire. Physical examination did not reveal any gross abnormalities apart from the neurological signs. Neurological examination revealed severe cerebellar ataxia, with tendency to lean and fall towards both sides, resulting in inability to walk without assistance. Proprioceptive positioning was normal while hopping reactions were abnormal with delayed onset of protraction and exaggerated response, once initiated. Spinal reflexes were normal in all four limbs. Cranial nerve examination revealed an absent menace response bilaterally with normal vision. Occasionally when the head was positioned in extension spontaneous rotatory nystagmus was observed. A lesion involving mainly the cerebellum and spinocerebellar tracts was suspected. (Forman et al. 2012) [151]

Pathology: Histopathologically, the lesions were confined to the cerebellum. Examination of serial cerebellar sections of the four week old puppy identified mild loss of Purkinje cells, with corresponding increased numbers of astrocytes. Moderate numbers of Purkinje cells were shrunken with angular cell margins, hypereosinophilic cytoplasm, and condensed nuclei (Figure 1A). Occasional associated swollen dendritic processes were identified. Spheroids were rarely seen. Mild spongiosis was present at the granular cell layer – Purkinje cell interface Bielschowsky fiber stain was performed and demonstrated the subacute loss of Purkinje cells, also called “empty baskets” (Forman et al. 2012) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 303950144 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: In the first published success of genome-wide RNA sequencing (mRNA-seq) in domestic animals, Forman et al. (2012) sequenced the mRNA from the cerebellum of one affected dog. The canine sequence data were compared with sequence of 27 human genes in which mutations have caused similar clinical signs in humans, and which have canine homologues. One of the canine homologues, SPTBN2, turned out to have… Evidence (references) - 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615386 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604985 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [151]

Beagle — Protein deletion (hereditary; OMIA-verified breed predisposition)

Disorder: Protein deletion [152]

Summary: In the first of two papers, Mise et al. (2004; Drug Metab Dispos 32:240-5) reported a polymorphism in ability to metabolize a novel cognitive enhancer AC-3933. Tenmizu et al. (2004) reported a similar polymorphism for a novel and selective phosphodiesterase type 4 inhibitor, YM-64227. In both cases, dogs were classified as poor metabolizers (PM) or extensive metabolizers (EM). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: CYPIA2 (Entrez Gene ID 26595581) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: By cloning and sequencing a set of likely candidate genes (based on knowledge of the physiology of this type of metabolism) Mise et al. (2004; Pharmacogenetics 14:769-73) showed that a 1117C>T nonsense mutation in the CYP1A2 gene is associated with the poor metabolizer (PM) phenotype in relation to AC-3933. The same mutation was reported by Tenmizu et al. (2004) as being associated with the PM … Evidence (references) - 2004. Identification of non-functional allelic variant of CYP1A2 in dogs. Pharmacogenetics — PubMed:PMID15564884 — OMIA Phene_Article / Article - 2004. Polymorphic expression of CYP1A2 leading to interindividual variability in metabolism of a novel benzodiazepine receptor partial inverse agonist in dogs. Drug Metab Dispos — PubMed:PMID14744947 | DOI:10.1124/dmd.32.2.240 — OMIA Phene_Article / Article - 2004. Identification of the novel canine CYP1A2 1117 C > T SNP causing protein deletion. Xenobiotica — PubMed:PMID15742977 | DOI:10.1080/00498250412331285436 — OMIA Phene_Article / Article - 2006. Elucidation of the effects of the CYP1A2 deficiency polymorphism in the metabolism of 4-cyclohexyl-1-ethyl-7-methylpyrido[2,3-d]pyrimidine-2-(1h)-one (YM-64227), a phosphodiesterase type 4 inhibitor, and its metabolites in dogs. Drug Metab Dispos — PubMed:PMID16882764 | DOI:10.1124/dmd.106.011213 — OMIA Phene_Article / Article - 2006. The canine CYP1A2 deficiency polymorphism dramatically affects the pharmacokinetics of 4-cyclohexyl-1-ethyl-7-methylpyrido[2,3-D]-pyrimidine-2-(1H)-one (YM-64227), a phosphodiesterase type 4 inhibitor. Drug Metab Dispos — PubMed:PMID16473917 | DOI:10.1124/dmd.105.008722 — OMIA Phene_Article / Article - 2023. Liver microsomal cytochrome P450 3A-dependent drug oxidation activities in individual dogs. Xenobiotica — PubMed:PMID37144920 | DOI:10.1080/00498254.2023.2211673 — OMIA Phene_Article / Article - 2023. Metabolism of ropinirole is mediated by several canine CYP enzymes. Vet Med Sci — PubMed:PMID37317989 | DOI:10.1002/vms3.1188 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2025. Evaluation of the relationship between cytochrome P450 (CYP) 1A2 gene copy number variation and CYP1A2 protein content and enzyme activity in canine liver. Front Vet Sci — PubMed:PMID40765748 | DOI:10.3389/fvets.2025.1511341 — OMIA Phene_Article / Article - 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:124060 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [152]

Beagle — Renal dysplasia (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: From a segregation analysis, Bovee (2003) concluded that the inheritance of this disorder is autosomal dominant with incomplete penetrance in the Shih Tzu breed. [153]

Gen test: A DNA test for this disorder in a wide range of breeds is included in the OFA's list at http://www.offa.org/dna_alltest.html, which directs enquiries to DOGenes in Peterborough, Ontario, Canada (http://www.dogenes.com/), where a Renal Dysplasia Information Page states that this company has identified the causative mutation that is the basis of the DNA test. As indicated on the DOGenes website, the basis for this claim are the results of Whiteley et al. (2011), who reported an association between the disorder (variously defined) and the presence of one or more of three mutant alleles of the COX-2 gene (officially known as PTGS2, which encodes prostaglandin-endoperoxide synthase 2; also known as prostaglandin G/H synthase or cyclooxygenase). The three alleles are characterised by small insertions or deletions a short distance upstream of the translation initiation codon of the gene. Unfortunately, the results presented by Whiteley et al. (2011) do not appear to justify the conclusions drawn: the criteria for affected were not defined sufficiently for any other researcher to conduct a comparable study; association analyses were conducted on family data while ignoring the family structure; the analyses were conducted on combined genotype data for whatever mutant alleles happened to exist in the available dogs, without any attempt to conduct separate analyses for individual mutant alleles; no segregation analysis was undertaken of the family data to provide insights into the form of inheritance of the disorder; and an across-breed analysis that involved only affected dogs (determined in a number of different manners, many not fully explained) led to the following conclusions, which speak for themselves: No dogs affected with renal dysplasia were identified with a homozygous wild type genotype. Therefore these allelic variants in the canine Cox-2 gene are associated with this disease in these breeds.... These alleles were shown to have 100% correlation with clinical cases of RD in 19 breeds. Finally, it is not easy to reconcile these results with the single causative mutation claimed on the DOGenes website. Consistent with the concerns just listed, the editors of the journal in which the paper by Whitely et al. (2011) was published have themselves published an Expression of Concern in order to make readers aware of the concerns about the reliability of the results and conclusions reported in the article (PLOS ONE Editors, 2012) The effects of the above alleles on methylation of the PTGS2 (COX-2) promoter in 13 dogs from 9 breeds were reported by Whiteley (2014). Eight of these dogs had biopsy (clinical) results: each of the five biopsy+ dogs come from a different breed, and two of the three biopsy- dogs have nothing but mutant alleles. Whiteley (2014) reported that The allelic variants were associated with hypermethylation of the Cox-2 promoter only in clinical cases of RD. The wild-type allele was never methylated, even in clinical cases that were heterozygous for a mutant allele. In cases that were biopsy-negative, the promoter remained unmethylated, regardless of the genotype. Homozygosity for a mutant allele or heterozygosity for two mutant alleles does not necessarily indicate that a dog is affected. Safra et al. (2015) reinforced the above doubts about the utility of the DNA test: they evaluated sequences [corresponding to those used in the DNA test] from dogs free of renal disease, and from gray wolves; the dog’s direct wild ancestor.... [Their] findings suggest that regional variants [the ones used in the DNA test] are a common finding in dogs and do not present a genetic risk for RD. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Causal variant(s) - Variant: chromosome 12; nt change c.647-36_647-35insN[226]; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 12; nt change c.647-36_647-35insN[226]; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 12; nt change c.647-36_647-35insN[226]; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 12; nt change c.647-36_647-35insN[226]; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 12; nt change c.647-36_647-35insN[226]; pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1989. Renal Dysplasia in a Cavalier King Charles Spaniel. Irish Veterinary Journal — OMIA Phene_Article / Article - 1995. Renal dysplasia in Golden Retrievers. Veterinary Pathology — PubMed:PMID7604504 — OMIA Phene_Article / Article - 1996. Renal dysplasia in a Rhodesian Ridgeback dog. Journal of Small Animal Practice — PubMed:PMID8934429 — OMIA Phene_Article / Article - 1997. Calcinosis circumscripta and renal dysplasia in a dog.. Vet Dermatol — PubMed:PMID34645029 | DOI:10.1111/j.1365-3164.1997.tb00260.x — OMIA Phene_Article / Article - 1997. A control of a Golden Retriever with renal dysplasia. Journal of Veterinary Medical Science — PubMed:PMID9362046 — OMIA Phene_Article / Article - 1997. Ultrasonographic findings of renal dysplasia in Cocker Spaniels - eight cases. Acta Veterinaria Hungarica — PubMed:PMID9557317 — OMIA Phene_Article / Article - 1998. Renal dysplasia in three young adult Dutch kooiker dogs. Veterinary Quarterly — PubMed:PMID9810631 — OMIA Phene_Article / Article - 1999. Congenital renal dysplasia and psychogenic polydipsia in a Bernese mountain dog. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 2000. Renal dysplasia in boxers and Finnish harriers. Journal of Small Animal Practice — PubMed:PMID11023130 — OMIA Phene_Article / Article - 2011. Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs.. PLoS One — PubMed:PMID21346820 | DOI:10.1371/journal.pone.0016684 — OMIA Phene_Article / Article - 2010. Renal dysplasia in Beagle dogs: four cases.. Toxicol Pathol — PubMed:PMID20884818 | DOI:10.1177/0192623310382558 — OMIA Phene_Article / Article - 2010. Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia.. Vet Radiol Ultrasound — PubMed:PMID20806879 — OMIA Phene_Article / Article - (7 additional references in OMIA) - 1989. Renal Dysplasia in a Cavalier King Charles Spaniel. Irish Veterinary Journal — OMIA Phene_Article / Article - 1995. Renal dysplasia in Golden Retrievers. Veterinary Pathology — PubMed:PMID7604504 — OMIA Phene_Article / Article - 1996. Renal dysplasia in a Rhodesian Ridgeback dog. Journal of Small Animal Practice — PubMed:PMID8934429 — OMIA Phene_Article / Article - 1997. Calcinosis circumscripta and renal dysplasia in a dog. Vet Dermatol — PubMed:PMID34645029 | DOI:10.1111/j.1365-3164.1997.tb00260.x — OMIA Phene_Article / Article - 1997. A control of a Golden Retriever with renal dysplasia. Journal of Veterinary Medical Science — PubMed:PMID9362046 — OMIA Phene_Article / Article - 1997. Ultrasonographic findings of renal dysplasia in Cocker Spaniels - eight cases. Acta Veterinaria Hungarica — PubMed:PMID9557317 — OMIA Phene_Article / Article - 1998. Renal dysplasia in three young adult Dutch kooiker dogs. Veterinary Quarterly — PubMed:PMID9810631 — OMIA Phene_Article / Article - 1999. Congenital renal dysplasia and psychogenic polydipsia in a Bernese mountain dog. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 2000. Renal dysplasia in boxers and Finnish harriers. Journal of Small Animal Practice — PubMed:PMID11023130 — OMIA Phene_Article / Article - 2011. Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs. PLoS One — PubMed:PMID21346820 | DOI:10.1371/journal.pone.0016684 — OMIA Phene_Article / Article - 2010. Renal dysplasia in Beagle dogs: four cases. Toxicol Pathol — PubMed:PMID20884818 | DOI:10.1177/0192623310382558 — OMIA Phene_Article / Article - 2010. Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia. Vet Radiol Ultrasound — PubMed:PMID20806879 — OMIA Phene_Article / Article - (7 additional references in OMIA) - 1989. Renal Dysplasia in a Cavalier King Charles Spaniel. Irish Veterinary Journal — OMIA Phene_Article / Article - 1995. Renal dysplasia in Golden Retrievers. Veterinary Pathology — PubMed:PMID7604504 — OMIA Phene_Article / Article - 1996. Renal dysplasia in a Rhodesian Ridgeback dog. Journal of Small Animal Practice — PubMed:PMID8934429 — OMIA Phene_Article / Article - 1997. Calcinosis circumscripta and renal dysplasia in a dog. Vet Dermatol — PubMed:PMID34645029 | DOI:10.1111/j.1365-3164.1997.tb00260.x — OMIA Phene_Article / Article - 1997. A control of a Golden Retriever with renal dysplasia. Journal of Veterinary Medical Science — PubMed:PMID9362046 — OMIA Phene_Article / Article - 1997. Ultrasonographic findings of renal dysplasia in Cocker Spaniels - eight cases. Acta Veterinaria Hungarica — PubMed:PMID9557317 — OMIA Phene_Article / Article - 1998. Renal dysplasia in three young adult Dutch kooiker dogs. Veterinary Quarterly — PubMed:PMID9810631 — OMIA Phene_Article / Article - 1999. Congenital renal dysplasia and psychogenic polydipsia in a Bernese mountain dog. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 2000. Renal dysplasia in boxers and Finnish harriers. Journal of Small Animal Practice — PubMed:PMID11023130 — OMIA Phene_Article / Article - 2011. Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs. PLoS One — PubMed:PMID21346820 | DOI:10.1371/journal.pone.0016684 — OMIA Phene_Article / Article - 2010. Renal dysplasia in Beagle dogs: four cases. Toxicol Pathol — PubMed:PMID20884818 | DOI:10.1177/0192623310382558 — OMIA Phene_Article / Article - 2010. Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia. Vet Radiol Ultrasound — PubMed:PMID20806879 — OMIA Phene_Article / Article - (7 additional references in OMIA) - 1989. Renal Dysplasia in a Cavalier King Charles Spaniel. Irish Veterinary Journal — OMIA Phene_Article / Article - 1995. Renal dysplasia in Golden Retrievers. Veterinary Pathology — PubMed:PMID7604504 — OMIA Phene_Article / Article - 1996. Renal dysplasia in a Rhodesian Ridgeback dog. Journal of Small Animal Practice — PubMed:PMID8934429 — OMIA Phene_Article / Article - 1997. Calcinosis circumscripta and renal dysplasia in a dog. Vet Dermatol — PubMed:PMID34645029 | DOI:10.1111/j.1365-3164.1997.tb00260.x — OMIA Phene_Article / Article - 1997. A control of a Golden Retriever with renal dysplasia. Journal of Veterinary Medical Science — PubMed:PMID9362046 — OMIA Phene_Article / Article - 1997. Ultrasonographic findings of renal dysplasia in Cocker Spaniels - eight cases. Acta Veterinaria Hungarica — PubMed:PMID9557317 — OMIA Phene_Article / Article - 1998. Renal dysplasia in three young adult Dutch kooiker dogs. Veterinary Quarterly — PubMed:PMID9810631 — OMIA Phene_Article / Article - 1999. Congenital renal dysplasia and psychogenic polydipsia in a Bernese mountain dog. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 2000. Renal dysplasia in boxers and Finnish harriers. Journal of Small Animal Practice — PubMed:PMID11023130 — OMIA Phene_Article / Article - 2011. Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs. PLoS One — PubMed:PMID21346820 | DOI:10.1371/journal.pone.0016684 — OMIA Phene_Article / Article - 2010. Renal dysplasia in Beagle dogs: four cases. Toxicol Pathol — PubMed:PMID20884818 | DOI:10.1177/0192623310382558 — OMIA Phene_Article / Article - 2010. Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia. Vet Radiol Ultrasound — PubMed:PMID20806879 — OMIA Phene_Article / Article - (7 additional references in OMIA) - 1989. Renal Dysplasia in a Cavalier King Charles Spaniel. Irish Veterinary Journal — OMIA Phene_Article / Article - 1995. Renal dysplasia in Golden Retrievers. Veterinary Pathology — PubMed:PMID7604504 — OMIA Phene_Article / Article - 1996. Renal dysplasia in a Rhodesian Ridgeback dog. Journal of Small Animal Practice — PubMed:PMID8934429 — OMIA Phene_Article / Article - 1997. Calcinosis circumscripta and renal dysplasia in a dog. Vet Dermatol — PubMed:PMID34645029 | DOI:10.1111/j.1365-3164.1997.tb00260.x — OMIA Phene_Article / Article - 1997. A control of a Golden Retriever with renal dysplasia. Journal of Veterinary Medical Science — PubMed:PMID9362046 — OMIA Phene_Article / Article - 1997. Ultrasonographic findings of renal dysplasia in Cocker Spaniels - eight cases. Acta Veterinaria Hungarica — PubMed:PMID9557317 — OMIA Phene_Article / Article - 1998. Renal dysplasia in three young adult Dutch kooiker dogs. Veterinary Quarterly — PubMed:PMID9810631 — OMIA Phene_Article / Article - 1999. Congenital renal dysplasia and psychogenic polydipsia in a Bernese mountain dog. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 2000. Renal dysplasia in boxers and Finnish harriers. Journal of Small Animal Practice — PubMed:PMID11023130 — OMIA Phene_Article / Article - 2011. Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs. PLoS One — PubMed:PMID21346820 | DOI:10.1371/journal.pone.0016684 — OMIA Phene_Article / Article - 2010. Renal dysplasia in Beagle dogs: four cases. Toxicol Pathol — PubMed:PMID20884818 | DOI:10.1177/0192623310382558 — OMIA Phene_Article / Article - 2010. Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia. Vet Radiol Ultrasound — PubMed:PMID20806879 — OMIA Phene_Article / Article - (7 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:248250 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:248250 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:248250 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:248250 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:248250 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [153]

Beagle — Retinal atrophy, progressive, X-linked, type 1 (hereditary; OMIA-verified breed predisposition)

Summary: The difference between XLPRA1 (this entry) and XLPRA2 ([OMIA:001518-9615]) is summarised by Appelbaum et al. (2020) as XLPRA1-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc.... The phenotype associated with XLPRA2 is very severe and manifests during early retinal development. [154]

Pathology: As summarised by Zeiss et al. (1999): The earliest lesion detectable by electron microscopy was vesiculation of rod discs, followed by disruption of outer segments and death of rods. Loss of cones and progressive atrophy of inner retinal layers followed. Lesions were most severe in the peripheral retina and advanced toward the optic disc with disease progression. Significant variation in disease severity was present in males despite the presence of the same disease allele in all affected dogs. As concluded by the same authors: X-linked retinal degeneration is characterized by initial degeneration of rod photoreceptors, followed by loss of cones and progressive atrophy of the inner retina. Carrier females display a phenotype consistent with random X-chromosome inactivation. Variation in genetic background may alter expression of the disease allele in affected animals, thus accounting for variation in phenotypic expression of the disease. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403726 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Based on a comparative positional cloning approach (the canine disorder maps to a location on the canine X chromosome that is homologous with the location of the same disorder (RP3) in humans, which is due to mutations in the RPGR gene), Zhang et al. (2002) identified a "five-nucleotide deletion (delGAGAA) between 1028 and 1032" (omia.variant:480) in the canine RPGR gene as a causal mutation for a… Evidence (references) - 1994. Animal model: XLPRA: A canine retinal degeneration inherited as an X-linked trait. American Journal of Medical Genetics — PubMed:PMID7977457 | DOI:10.1002/ajmg.1320520106 — OMIA Phene_Article / Article - 1999. Retinal pathology of canine X-linked progressive retinal atrophy, the locus homologue of RP3. Investigative Ophthalmology & Visual Science — PubMed:PMID10586956 — OMIA Phene_Article / Article - 2000. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). Human Molecular Genetics — PubMed:PMID10699176 — OMIA Phene_Article / Article - 2007. Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. Mol Vis — PubMed:PMID17653054 — OMIA Phene_Article / Article - 2002. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet — PubMed:PMID11978759 — OMIA Phene_Article / Article - 2007. Intravitreal injection of ciliary neurotrophic factor (CNTF) causes peripheral remodeling and does not prevent photoreceptor loss in canine RPGR mutant retina. Exp Eye Res — PubMed:PMID17320077 | DOI:10.1016/j.exer.2006.12.019 — OMIA Phene_Article / Article - 2007. Independent origin and restricted distribution of RPGR deletions causing XLPRA. J Hered — PubMed:PMID17646274 | DOI:10.1093/jhered/esm060 — OMIA Phene_Article / Article - 2002. Characterization of three microsatellite loci linked to the canine RP3 interval. J Hered — PubMed:PMID12011183 — OMIA Phene_Article / Article - 2001. Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals. Invest Ophthalmol Vis Sci — PubMed:PMID11581184 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2000. Molecular cloning, characterization and expression of a novel retinal clusterin-like protein cDNA. Gene — PubMed:PMID10675623 — OMIA Phene_Article / Article - 2012. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A — PubMed:PMID22308428 | DOI:10.1073/pnas.1118847109 — OMIA Phene_Article / Article - (16 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:300029 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:312610 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:304020 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300834 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300455 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [154]

Beagle — classical Ehlers-Danlos syndrome (cEDS), COL5A1-related; Ehlers-Danlos syndrome, classic type, 1 (hereditary; OMIA-verified breed predisposition)

Disorder: classical Ehlers-Danlos syndrome (cEDS), COL5A1-related; Ehlers-Danlos syndrome, classic type, 1 [155]

Clin feat: On physical examination, evidence of generalized joint hyperextensibility with a range of motion greater than 180°. and skin hyperextensibility. and fragility was noted in an affected Labrador Retriever (Bauer et al. 2019). Two affected mixed breed dogs also showed marked skin hyperextensibility. Bruising and wounds were noted to occur after only mild trauma in these dogs. Joint hypermobility, a typical sign for classical Ehlers-Danlos, was not investiagted in the affected mixed breed dogs (Bauer et al. 2019). Bullock et al. (2024) reported 7 affected dogs from different breeds: The most common clinical signs included fragile skin (n = 7), hyperextensible skin (n = 7), joint hypermobility (n = 6), and atrophic scars (n = 5). The median age at last follow-up or death was 12 years (range, 6.5-14 years). Ultrastructural abnormalities in dermal collagen differed among dogs with different COL5A1 variants. Vizcaíno-Revés et al. (2025) report bilateral cranial cruciate rupture as an additional clinical finding in a Maltese dog affected with classical Ehlers–Danlos Syndrome. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248174 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: "Whole-genome sequencing [of two affected dogs - one a Labrador and the other mixed-breed - by Bauer et al., 2019] revealed de novo mutations of COL5A1 in both cases, confirming the diagnosis of the classical form of EDS. The heterozygous COL5A1 p.Gly1013ValfsTer260 mutation [omia.variant:1124] characterized in case 1 introduced a premature termination codon and would be expected to result in α1(V… Evidence (references) - 2019. Identification of two independent COL5A1 variants in dogs with Ehlers-Danlos syndrome. Genes (Basel) — PubMed:PMID31546637 | DOI:10.3390/genes10100731 — OMIA Phene_Article / Article - 2021. Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet — PubMed:PMID34712265 | DOI:10.3389/fgene.2021.726474 — OMIA Phene_Article / Article - 2021. Connective tissue disorders in domestic animals. Adv Exp Med Biol — PubMed:PMID34807427 | DOI:10.1007/978-3-030-80614-9_15 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2020. The Ehlers-Danlos syndromes. Nat Rev Dis Primers — PubMed:PMID32732924 | DOI:10.1038/s41572-020-0194-9 — OMIA Phene_Article / Article - 2024. Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome. J Vet Intern Med — PubMed:PMID39175162 | DOI:10.1111/jvim.17180 — OMIA Phene_Article / Article - 2025. Bilateral cranial cruciate ligament rupture treatment in a dog affected by classical Ehlers-Danlos syndrome. Vet Sci — PubMed:PMID41472142 | DOI:10.3390/vetsci12121162 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:130000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120215 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [155]

Beauceron — Deafness, CDH23-related (hereditary; OMIA-verified breed predisposition)

Breed: Beauceron (Dog) [156]

Clin feat: Affected puppies exhibit bilateral sensineural deafness from birth, which can be assessed by either behavioral tests or brainstem auditory evoked response (BAER) examinations. No other signs were noted by the owners or attending veterinarians (Abitbol et al. 2022). [156]

Prevalence: Abitbol et al. (2022): By genotyping a cohort of 90 control Beauceron dogs sampled in France, we found a 3.3% carrier frequency. [156]

Gen test: Abitbol et al. (2022): The CDH23:c.[700CT] allele is easily detectable with a genetic test to avoid at-risk matings. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389415032 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: "By combining homozygosity mapping with whole genome sequencing and variant filtering in affected dogs ... [Abitbol et al. (2022)] identified a CDH23:c.700C>T variant. The variant, located in the CHD23 (cadherin related 23) gene, was predicted to induce a CDH23:p.(Pro234Ser) change in the protein. Proline-234 of CDH23 protein is highly conserved across different vertebrate species. In silico tools… Evidence (references) - 2023. A CDH23 missense variant in Beauceron dogs with non-syndromic deafness. Anim Genet — PubMed:PMID36308003 | DOI:10.1111/age.13273 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:605516 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601386 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601067 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [156]

Bedlington Terrier — Hereditary Footpad Hyperkeratosis (hereditary; OMIA-verified breed predisposition)

Breed: Bedlington Terrier (Dog) [157]

Disorder: Hereditary Footpad Hyperkeratosis [157]

Clin feat: As summarised by Drögemüller et al. (2014): Hyperkeratosis of the foot pads is noticed by the owners of both breeds at 4–5 months of age and involves all footpads. With time horny protrusions appear on the rims of the footpads and the pad surface becomes hard and develops cracks.... Affected animals avoid walking on irregular surfaces and may go lame. The nails of affected dogs are very hard and seem to grow faster. We noticed a duller, less wiry, softer coat on an affected Kromfohrländer.... Similar clinical symptoms were noted on 5 HFH affected Irish Terriers. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389413015 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Comparison of sequence in the positional candidate region, from whole-genome sequencing of an affected Kromfohrländer at 23.5x coverage, with relevant sequence from 46 non-affected dogs from other breeds identified the causal mutation as "a missense variant (c.155G>C) in the FAM83G gene encoding a protein with largely unknown function. It is predicted to change an evolutionary conserved arginin… Evidence (references) - 2000. Palmoplantar hyperkeratosis in Irish terriers: evidence of autosomal recessive inheritance. Journal of Small Animal Practice — PubMed:PMID10701186 — OMIA Phene_Article / Article - 2003. Familial footpad hyperkeratosis and inheritance of keratin 2, keratin 9, and desmoglein 1 in two pedigrees of Irish Terriers. American Journal of Veterinary Research — PubMed:PMID12828257 — OMIA Phene_Article / Article - 2014. A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH). PLoS Genet — PubMed:PMID24832243 | DOI:10.1371/journal.pgen.1004370 — OMIA Phene_Article / Article - 2016. Whole-genome sequencing of a canine Family trio Reveals a FAM83G variant associated with hereditary footpad hyperkeratosis. G3 (Bethesda) — PubMed:PMID26747202 | DOI:10.1534/g3.115.025643 — OMIA Phene_Article / Article - 2019. FAM83G/Fam83g genetic variants affect canine and murine hair formation. Exp Dermatol — PubMed:PMID29963719 | DOI:10.1111/exd.13729 — OMIA Phene_Article / Article - 2021. Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol — PubMed:PMID34796560 | DOI:10.1111/vde.13033 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2021. Bedlington terriers diagnosed with familial footpad hyperkeratosis are carriers of an FAM83G mis-sense variant. In: 32nd European Veterinary Dermatology Congress (online) 16–16 September 2021 Abstracts. Veterinary Dermatology — DOI:10.1111/vde.13021 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615886 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [157]

Bedlington Terrier — copper toxicosis, atypical form of Wilson disease (hereditary; OMIA-verified breed predisposition)

Disorder: copper toxicosis, atypical form of Wilson disease [158]

Summary: Bedlington terrier copper toxicosis has been reported to be caused by a homozygous exon deletion in COMMD1 (Forman et al., 2005). However, copper toxicosis has since been diagnosed in Bedlington terriers lacking the COMMD1 deletion, and in these dogs the disease has been associated with two splice variants in the ABCA12 gene (Haywood et al. 2016) and a variant in the ATP7B gene that has been proposed as causal variant for Wilson disease (see OMIA:001071-9615: Wilson disease in Canis lupus familiaris) (Haywood et al., 2023). Labrador retriever copper toxicosis is associated with a missense mutation in ATP7B (see OMIA:001071-9615: Wilson disease in Canis lupus familiaris), and with a protective mutation in ATP7A (see OMIA:002608-9615: Modifier of copper toxicosis, ATP7A-related in Canis lupus familiaris). [158]

Clin feat: Su et al. (1982): Bedlington terriers with copper toxicosis initially present clinically normal despite increases in hepatic and renal and later brain copper levels. The dogs's ceruloplasmin level is reported to be normal, Kayser-Fleischer rings have not been observed, and neurological manifestations are lacking. However, owners of these dogs have noted significant personality changes preceding symptoms of the hepatic disease which occurs as disease is progressing. Favier et al. (2012) report longitudinal follow up of 5 COMMD-1 deficient Bedlington terriers until the age of 42 month: During the entire follow-up period dogs showed no abnormalities at physical examination. Serum ALT was significantly increased at 24, 36, and 42 months of age (2–3-fold), whereas serum AP significantly increased at 18 and 42 months of age. During the 42 months follow-up period, bile acids and albumin remained within reference limits.. Acute clinical signs of hepatic disease in older animals include depression, vomiting, anorexia, prolonged capillary refill time, weight loss and jaundice. Chronic courses involve less severe signs but can include ascites, polydipsic and behavioural changes due to hepatic encephalopathy (Washabau, 2013; Herrtage et al., 1987). [158]

Pathology: An elevated hepatic copper concentration (normal mean is 206 ± 56 μg/g dry weight of liver in Bedlington terriers) with age is the key pathological feature found by liver biopsy and quantitative analysis. In the early stage, the hepatic copper concentration is between 400 and 1500 μg/g, and copper mainly accumulates in zone 3 with unremarkable histopathological founds. When the hepatic copper concentration is between 1500 and 2000 μg/g, accumulated copper is also found in zone 2 and zone 1 with focal hepatitis on biopsy. Chronic hepatitis or cirrhosis appears on biopsy when the hepatic copper concentration exceeds 2000 μg/g (Washabau, 2013). The longitudinal study by Favier et al. (2023) reports that at six months of age all dogs showed a moderate centrilobular hepatic copper accumulation; however no evidence of copper laden Kupffer cells. or other evidence of hepatitis was observed at this stage.. At 12 months of age all animals had extensive copper accumulation diffuse throughout the lobules and in two animals a mild hepatitis was present. At 18 months all dogs showed a slight to mild hepatitis. Although there was some individual variation, the activity of hepatitis progressed to mild and moderate at older age (24 months) in all dogs. [158]

Prevalence: Haywood et al. (2023) The prevalence [of copper toxicosis] in this breed was very high in the 1970s and 1980s, ranging from 26% to 46% in different Bedlington terrier populations (Kelly et al., 1984).. The COMMD1 deletion is no longer the predominant cause of CT in Bedlington terriers. Testing for the deletion is still indicated prior to breeding, because it remains present in the breed, but copper storage disease cannot be ruled out by demonstrating that a dog is COMMD1+/+. Liver biopsies are necessary to rule this out. [158]

Gen test: One of the many laboratories offering a DNA test for this disorder is Dr. Van Haeringen Laboratorium B.V: www.vhlgenetics.com Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: MURR1 (Entrez Gene ID 403590) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 1975. Chronic progressive hepatitis in Bedlington Terriers associated with elevated liver copper concentrations. Minnesota Veterinarian — OMIA Phene_Article / Article - 1977. Chronic hepatitis in Bedlington Terriers - An emerging animal model. D.V.M. — OMIA Phene_Article / Article - 1980. Inheritance of copper toxicosis in Bedlington Terriers. Am J Vet Res — PubMed:PMID7212417 — OMIA Phene_Article / Article - 1991. Studies of copper metabolism in dogs - The development, treatment and prevention of copper storage disease in Bedlington and other terriers. Tierarztliche Umschau — OMIA Phene_Article / Article - 1992. Cytological detection of copper for the diagnosis of inherited copper toxicosis in Bedlington terriers. Vet Rec — PubMed:PMID1380748 | DOI:10.1136/vr.131.2.30 — OMIA Phene_Article / Article - 1993. Linkage studies of the esterase-D and retinoblastoma genes to canine copper toxicosis - A model for Wilson disease. Genomics — PubMed:PMID8432554 | DOI:10.1006/geno.1993.1013 — OMIA Phene_Article / Article - 1987. Inherited copper toxicosis in the Bedlington terrier: a report of two clinical cases. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1987. Inherited copper toxicosis in the Bedlington terrier: the prevelance in asymptomatic dogs. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1983. Copper toxicosis in Bedlington terriers. Acta Veterinaaria Scandinavica — OMIA Phene_Article / Article - 1982. A comparison of copper-loading disease in Bedlington Terriers and Wilson's disease in humans. Am J Physiol — PubMed:PMID7114265 | DOI:10.1152/ajpgi.1982.243.3.G226 — OMIA Phene_Article / Article - 1997. Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers. Am J Vet Res — PubMed:PMID8989491 — OMIA Phene_Article / Article - 1996. Evaluation of a DNA marker for copper toxicosis in Bedlington Terriers. Veterinary Quarterly — OMIA Phene_Article / Article - (49 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:607238 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [158]

Bedlington Terrier — copper toxicosis; copper storage disease, copper-associated hepatitis, copper-associated chronic hepatitis (CACH) (hereditary; OMIA-verified breed predisposition)

Disorder: copper toxicosis; copper storage disease, copper-associated hepatitis, copper-associated chronic hepatitis (CACH) [159]

Summary: Excessive copper deposition leading to copper toxicosis is a complex genetic disorder that can lead to copper-associated chronic hepatitis. In Labrador retrievers accumulation of hepatic copper levels has been partly explained by a variant in the ATP7B gene (c.4358G>A) and proposed genetic modifiers of copper toxicosis in the ATP7A and RETN gene (see '[OMIA:002608-9615] Modifier of copper toxicosis, ATP7A-related in Canis lupus familiaris' and [OMIA:002609-9615] Modifier of copper toxicosis, RETN-related in Canis lupus familiaris'). For information on a different form of copper toxicosis in Bedlington Terriers due to variants in the COMMD1 gene see: '[OMIA00:1988-9615]: Copper toxicosis, COMMD1-related' Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388245279 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Fieten et al. (2016): "The amino acid substitution ATP7B:p.Arg1453Gln was associated with copper accumulation . . . We identified the Labrador retriever as the first natural, non-rodent model for ATP7B-associated copper toxicosis" Wu et al. (2019) concluded that "The ATP7B:c.4358G>A variant could be a contributor to hepatic copper accumulation underlying the risk of development of copper-associ… Evidence (references) - 1987. The genetics of copper metabolism in animals and man — OMIA Phene_Article / Article - 1991. Purification of canine hepatic lysosomal copper- metallothionein. Metallobiochemistry, Pt B — OMIA Phene_Article / Article - 1986. Hereditary copper toxicosis in West Highland white terriers. Veterinary Pathology — PubMed:PMID3962081 — OMIA Phene_Article / Article - 1988. Hepatitis and copper accumulation in Skye terriers. Veterinary Pathology — PubMed:PMID3212885 — OMIA Phene_Article / Article - 1995. Copper-associated hepatopathies in dogs. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1996. The relationship between hepatic copper content and morphologic changes in the liver of West Highland White terriers. Veterinary Pathology — PubMed:PMID8952024 — OMIA Phene_Article / Article - 1998. Cluster analysis of the genetic heterogeneity and disease distributions in purebred dog populations. Veterinary Record — PubMed:PMID9533291 — OMIA Phene_Article / Article - 1998. Wilson disease and canine copper toxicosis. American Journal of Clinical Nutrition — OMIA Phene_Article / Article - 1992. Use of zinc acetate to treat copper toxicosis in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID1517130 — OMIA Phene_Article / Article - 1999. Copper associated acute hepatic failure in a dog. Journal of the American Veterinary Medical Association — PubMed:PMID10340076 — OMIA Phene_Article / Article - 2001. ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis. Mammalian Genome — PubMed:PMID11471056 — OMIA Phene_Article / Article - 2002. Copper-associated liver disease in Dalmatians: A review of 10 dogs (1998-2001). Journal of Veterinary Internal Medicine — PubMed:PMID12465762 — OMIA Phene_Article / Article - (32 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:277900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606882 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [159]

Belgian Shepherd Dog — Ataxia, cerebellar, RALGAPA1-related (hereditary; OMIA-verified breed predisposition)

Breed: Belgian Shepherd Dog (Dog) [160]

Clin feat: Christen et al. (2023) investigated a [Belgian shepherd] litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood.. Genotyping additional ataxic Belgian shepherd dogs revealed three additional homozygous mutant dogs from a single litter, which had been euthanized at five weeks of age due to their severe clinical phenotype. [160]

Pathology: Christen et al. (2023): Histopathology revealed cytoplasmic accumulation of granular material within cerebellar Purkinje cells [in affected Belgian shepherds]. [160]

Prevalence: Christen et al. (2023): Genotyping a cohort of almost 900 Belgian shepherd dogs [for the ~4.8 kb deletion] showed. a carrier frequency of 5% in the population. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: GARNL1 (Entrez Gene ID 388307002) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Christen et al. (2023) identified a likely causal variant in Belgian shepherd dogs: "Combined linkage and homozygosity mapping delineated a 5.5 Mb critical interval. The comparison of whole-genome sequence data of one affected dog to 929 control genomes revealed a private homozygous ~4.8 kb deletion in the critical interval, Chr8:14,468,376_14,473,136del4761. The deletion comprises exon 35 of the … Evidence (references) - 2023. RALGAPA1 deletion in Belgian shepherd dogs with cerebellar ataxia. Genes (Basel) — PubMed:PMID37628572 | DOI:10.3390/genes14081520 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608884 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618797 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [160]

Belgian Shepherd Dog — CNS atrophy with cerebellar ataxia (hereditary; OMIA-verified breed predisposition)

Disorder: CNS atrophy with cerebellar ataxia [161]

Clin feat: The severity of the clinical phenotype is variable. The four affected dogs of the index family developed uncoordinated movements and intention tremor at two weeks of age. Due to the severity of their clinical signs, they were euthanized at 27 days of age. Another affected dog developed ataxia as a puppy, but remained in a relatively stable condition (with pronounced ataxia) and reached an age of 10 years (Christen et al. 2021). [161]

Pathology: During necropsy no gross lesions were detectable except for mild anemia. Histologically, all four animals showed similar lesions in brain and spinal cord to variable extent. In the cerebellum, all cortical layers were atrophic with depletion of Purkinje cells and granule cells. Neuroaxonal degeneration was present in midbrain, brain stem and spinal cord. Myelin content was severely diminished in the white matter of brain and spinal cord. Gliosis was evident in affected regions showing activation and increased numbers of astrocytes and microglial cells, respectively (Christen et al. 2021). [161]

Prevalence: At the time of the initial description, Christen et al. (2021) genotyped 631 non-affected Belgian Shepherds. They found 38 heterozygous carriers in this cohort, which corresponds to a carrier frequency of 6%. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388247132 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Whole genome sequencing of an affected dog revealed a homozygous ~17 kb deletion spanning the entire protein coding region of the SELENOP gene [also called SEPP1]. The exact genomic designation of the deletion is Chr4:66,946,539_66,963,863del17,325 (CanFam 3.1). The deletion was private to the sequenced dog and absent from 735 control genomes of genetically diverse dogs and wolves. Genotypes at th… Evidence (references) - 2021. Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs. PLoS Genet — PubMed:PMID34339417 | DOI:10.1371/journal.pgen.1009716 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601484 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [161]

Belgian Shepherd Dog — Cardiomyopathy and juvenile mortality (hereditary; OMIA-verified breed predisposition)

Clin feat: The clinical phenotype is unspecific and variable. In the study of Gurtner et al. (2020), three affected puppies were studied, which all died at 8 weeks of age. A few days prior to death they showed various clinical signs such as vomiting and dyspnea (n = 2) or lethargy and muscle twitching (n = 1) (Gurtner et al. 2020). [162]

Pathology: Cardiomyocytes of affected puppies were swollen and pale, and the sarcoplasm around the nucleus was dispersed by finely granular material (Gurtner et al. 2020). The authors concluded: The cause of disease and death were likely due to the degenerative changes in the heart, leading to myocardial failure. [162]

Prevalence: Gurtner et al. (2020): The carrier frequency was 27.2% in the tested Belgian Shepherd dogs Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252268 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2020. YARS2 missense variant in Belgian Shepherd dogs with cardiomyopathy and juvenile mortality. Genes (Basel) — PubMed:PMID32183361 | DOI:10.3390/genes11030313 — OMIA Phene_Article / Article - 2023. Recessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models. Front Neurosci — PubMed:PMID37274208 | DOI:10.3389/fnins.2023.1182874 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613561 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610957 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [162]

Belgian Shepherd Dog — Spinocerebellar ataxia with myokymia, seizures or both (SAMS); spongy degeneration with cerebellar ataxia 1 (SDCA1) (hereditary; OMIA-verified breed predisposition)

Disorder: Spinocerebellar ataxia with myokymia, seizures or both (SAMS); spongy degeneration with cerebellar ataxia 1 (SDCA1) [163]

Clin feat: Spinocerebellar ataxia with myokymia, seizures, or both (SAMS): The median age at onset of cerebellar ataxia in 12 dogs was 3 months (range, 2–6 months) (Gilliam et al. 2014). Ten out of twelve SAMS-affected dogs of the Russell terrier group showed muscle twitches (myokymia). The median age at onset for myokymia was 6 months (range, 3–8 months). Some SAMS dogs developed seizures. (Gilliam et al. 2014). Spongy degeneration with cerebellar ataxia 1 (SDCA1): This phenotype occurs in Malinois dogs and has an earlier age of onset than SAMS. Kleiter et al. (2011) investigated 5 closely related litters with presumed SDCA1 (the KCNJ10:p.Leu329Pro variant was confirmed in only one of the litters, Mauri et al. 2017). Malinois puppies with SDCA1 developed a severe ataxia at 4-7 weeks of age. Affected dogs showed shivering and were unable to start walking without falling. The severe condition resulted in euthanasia at 5-13 weeks of age (Kleiter et al. 2011). Van Poucke et al. (2017) reported another detailed clinical analysis of 3 SDCA1 affected Malinois dogs. One of the dogs was still alive at 1 year of age despite severely debilitating non-ambulatory ataxia. Van Poucke et al. noted ataxia, myokymia and neuromyotonia as well as auditory changes in SDCA1 affected dogs. [163]

Pathology: Macroscopically the central nervous system (CNS) and peripheral nervous system (PNS) of dogs carrying the KCNJ10 variants are normal. Based on histopathology, there is apparently some phenotypical variation depending on the breed and report. In Parson Russell Terriers and in Jack Russell Terriers the KCNJ10 c.627C>G (p.Ile209Met) variant is associated with bilateral-symmetrical axonal degeneration in the ventral and lateral funiculi of the spinal cord (Gilliam et al. 2014). Van Poucke et al. (2017) describe a similar axonal degeneration in the ventral funiculi and in the brainstem and cerebellum of Malinois dogs with the KCNJ10: c.986T>C (p.Leu329Pro) variant in association with myelin vacuolisation and additionally axonal changes in the PNS. In comparison, in the descriptions by Kleiter et al. (2011) and Mauri et al. (2017) the neuropathology of affected Malinois dogs is dominated by vacuolisation (spongy degeneration) targeting the cerebellar nuclei, granule cell layer and cerebellar white matter. This vacuolisation is accompanied by axonal degeneration in the brain and spinal cord, which is mainly characterized by the presence of axonal swellings. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253587 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By whole-genome sequencing a single SAMS affected Russell group terrier (RGT) dog, and comparing that sequence with whole-genome sequence from 81 canid reference genomes, Gilliam et al. (2014) identified 23 missense variants that were homozygous in the affected dog. Of the two variants that occurred in comparative candidate genes, one (KCNJ10:c.627C>G; p.Ile209Met) was shown by subsequent seque… Evidence (references) - 1973. Ataxia in Jack Russell Terriers. Acta Neuropathol — PubMed:PMID4747697 | DOI:10.1007/BF00685524 — OMIA Phene_Article / Article - 1991. Congenital tremor with spongy degeneration of the central nervous system in two puppies. J Vet Intern Med — PubMed:PMID2061870 | DOI:10.1111/j.1939-1676.1991.tb00937.x — OMIA Phene_Article / Article - 1993. Cerebellar ataxia in Jack Russell Terriers. Veterinary Record — OMIA Phene_Article / Article - 2004. Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. J Vet Intern Med — PubMed:PMID15320590 | DOI:10.1892/0891-6640(2004)182.0.co;2 — OMIA Phene_Article / Article - 2011. Spongy degeneration with cerebellar ataxia in Malinois puppies: a hereditary autosomal recessive disorder?. J Vet Intern Med — PubMed:PMID21488963 | DOI:10.1111/j.1939-1676.2011.0720.x — OMIA Phene_Article / Article - 2012. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID22634896 | DOI:10.1136/vr.e3642 — OMIA Phene_Article / Article - 2012. Hereditary ataxia, myokymia and neuromyotonia in Jack Russell Terriers. Vet Rec — PubMed:PMID22872628 | DOI:10.1136/vr.e5021 — OMIA Phene_Article / Article - 2014. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID24736825 | DOI:10.1136/vr.g1972 — OMIA Phene_Article / Article - 2014. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID24736826 | DOI:10.1136/vr.g1973 — OMIA Phene_Article / Article - 2014. A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med — PubMed:PMID24708069 | DOI:10.1111/jvim.12355 — OMIA Phene_Article / Article - 2015. A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds. Acta Vet Scand — PubMed:PMID25998802 | DOI:10.1186/s13028-015-0115-1 — OMIA Phene_Article / Article - 2016. Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. BMC Vet Res — PubMed:PMID27724896 | DOI:10.1186/s12917-016-0862-x — OMIA Phene_Article / Article - (11 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:612780 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602208 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [163]

Belgian Shepherd Dog — Spongy degeneration with cerebellar ataxia 2 (hereditary; OMIA-verified breed predisposition)

Disorder: Spongy degeneration with cerebellar ataxia 2 [164]

Clin feat: The primary clinical sign consisted of a loss of coordination and generalized ataxic gait starting at 4 weeks of age. SDCA2 affected dogs also had seizures, showed pacing and circling and developed central blindness. Due to the rapid progression of the neurological signs, most puppies were euthanized at 6 weeks of age. One affected puppy died at 6.5 weeks of age during a seizure (Mauri et al. 2017). [164]

Pathology: Histopathological changes. were characterized by bilateral-symmetric vacuolation of the neuropil, targeting the cerebellar nuclei; the ventral horn gray matter of the spinal cord, in particular at the level of the cervical intumescence; and the brain stem. In the spinal cord, vacuolation was associated with neuronal necrosis and severe gliosis. Additionally, in the puppy MA162, neuronal necrosis and diffuse presence of hypertrophic astrocytes with vesicular nuclei, reminiscent of Alzheimer type II cells, were observed in the hippocampus, caudate nucleus, and diffusely in the cortex. Histopathological eye abnormalities were not noticed. (Mauri et al. 2017) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388254176 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By whole-genome sequencing a single SDCA2 affected Belgian Shepherd, and comparing the data with genome sequences from 146 control canids, Mauri et al. (2017) identified a 227 bp SINE insertion into exon 2 of the ATP1B2 gene in the affected dog. The variant was described as XM_546597.5:ATP1B2:c.130_131insLT796559.1:g.50_276 or CanFam3.1:Chr5:32,551,064_32,551,065insLT796559.1:g.50_276. The SINE in… Evidence (references) - 2017. A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3 (Bethesda) — PubMed:PMID28620085 | DOI:10.1534/g3.117.043018 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:182331 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [164]

Belgian Shepherd Dog, Malinois — Ataxia, spinocerebellar, SLC12A6-related (hereditary; OMIA-verified breed predisposition)

Breed: Belgian Shepherd Dog, Malinois (Dog) [165]

Clin feat: Van Poucke et al. (2019): progressive spinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia-like muscle contractions Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246272 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Van Poucke et al. (2019): "whole-exome sequencing identified the SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) truncating variant. This loss-of-function variant perfectly segregated within the affected Malinois family in an autosomal recessive way and was not found in 562 additional reference dogs from 18 different breeds, including Malinois." Evidence (references) - 2019. Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. Eur J Hum Genet — PubMed:PMID31160700 | DOI:10.1038/s41431-019-0432-3 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:218000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604878 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [165]

Belgian Shepherd Dog, Malinois — Leukoencephalomyelopathy with oligodendroglial dysplasia, spinocerebellar ataxia (hereditary; OMIA-verified breed predisposition)

Disorder: Leukoencephalomyelopathy with oligodendroglial dysplasia, spinocerebellar ataxia [166]

Summary: See also [OMIA:002198-9615]: Retinal atrophy, progressive, NECAP1-related in Canis lupus familiaris (dog) for a different phenotype caused by variants in the same gene. [166]

Clin feat: Stee et al. (2026): A 7-month-old Belgian Malinois puppy was presented for progressively worsening ataxia and episodes of aggression. General physical examination was unremarkable, and neurological examination revealed ambulatory tetraparesis, spinocerebellar ataxia, thoracic limb pseudo-hypermetria, exaggerated head movements, bilateral vestibular signs and a bilateral divergent strabismus. A magnetic resonance imaging (MRI) of the brain and cervical spinal cord revealed a generalized cerebral atrophy. [166]

Pathology: Stee et al. (2026): Histopathology of the brain revealed diffuse and widespread oligodendroglial dysplasia with myelinated fibers disorganization. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252325 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Stee et al. (2026): "A disease-associated nonsense variant in NECAP1 (NC_049248.1:g.8636271G>A on chromosome 27), introducing a stop codon at codon 48 (XM_038576681.1:c.142C>T (p.Arg48*)) [omia.variant:1908] and truncating the only isoform by 83%, was identified by whole genome sequencing (WGS). The variant segregated in the affected family with a recessive mode of inheritance, but was not p… Evidence (references) - 2026. A NECAP1 nonsense variant is associated with leukoencephalomyelopathy with oligodendroglial dysplasia in a Belgian Malinois with spinocerebellar ataxia. Anim Genet — PubMed:PMID42366163 | DOI:10.1002/age.70156 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:611623 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615833 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [166]

Belgian Shepherd Dog, Malinois — classical haemophilia/hemophilia (hereditary; OMIA-verified breed predisposition)

Disorder: classical haemophilia/hemophilia [167]

Summary: The historical section of this entry is based on information in the review by Lozier and Nichols (2013). Some missing references were also gleaned from this review. FN is grateful to the authors for their very useful review. [167]

Clin feat: Dogs with haemophilia A present with spontaneous bleeding, including bleeding in soft tissue, joints (causing lameness) and body cavities. Excessive bleeding is reported after tooth extraction or after deciduous teeth are lost and after surgery (Mischke et al., 1996; Nichols et al., 2010). Coagulation analysis will show a markedly prolonged activated partial thromboplastin time (APTT) with a low factor VIII activity (Gavazza et al., 2014; Nishitani and Kitoh, 2021). Severity of clinical presentation varies between breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403875 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), a likely causal mutation in the canine factor 8 gene (F8) was discovered: in the Queens University Miniature Schnauzer colony, an intronic inversion (omia.variant:363) that results in "aberrant splicing and premature termination of transcription of the FVIII gene, resulting in a polyadenyla… Causal variant(s) - Variant: chromosome 1; nt change c.574-589del; pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1975. Hemophilia A and hemophilia B in a family of French bulldogs. Tijdschr Diergeneeskd — PubMed:PMID1209580 — OMIA Phene_Article / Article - 1948. Sex-linked hemophilia in dogs. Journal of Heredity — OMIA Phene_Article / Article - 1938. Haemophile bij Honden. Journal Ned. Ind. Bladen v Diergeneesk en Dierant. — OMIA Phene_Article / Article - 1957. Antihemophilic factor (AHF): plasma levels after administration of AHF preparations to haemophilic dogs. Proceedings of the Society for Experimental Biology and Medicine — PubMed:PMID13485042 — OMIA Phene_Article / Article - 1965. Colony of Hemophilic Dogs. Science — PubMed:PMID17841958 | DOI:10.1126/science.150.3705.1766 — OMIA Phene_Article / Article - 1967. Subluxation on the carpus in dogs: a genetic defect on the X-chromosome closely linked to the locus for hemophilia A. Federation Proceedings — OMIA Phene_Article / Article - 1955. Hemophilic arthropathy in dogs. American Journal of Pathology — OMIA Phene_Article / Article - 1977. Diagnosis of classic hemophilia (Hemophilia A) in a standard Poodle. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1975. Clearance of cryoprecipitated factor VIII in canine hemophilia A. American Journal of Veterinary Research — PubMed:PMID1124873 — OMIA Phene_Article / Article - 1973. Canine hemophilia in Beagles: genetics, site of factor VIII synthesis, and attempts at experimental therapy. Haemophilia. Proceedings of the Seventh Congress of the World Federation of Haemophilia, May 17-20, 1971, Tehran, Iran — OMIA Phene_Article / Article - 1963. Canine hemophilia-establishment of a new colony. Archives of Pathology — PubMed:PMID14054168 — OMIA Phene_Article / Article - 1988. A study of hemophilia A in German Shepherd dogs in Denmark. Veterinary Clinics of North America, Small Animal Practice — OMIA Phene_Article / Article - (129 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:306700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300841 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [167]

Berger de Savoie Shepherd Dog — bob-tail, bob tail (hereditary; OMIA-verified breed predisposition)

Breed: Berger de Savoie Shepherd Dog (Dog) [130]

Bernese Mountain Dog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Bernese Mountain Dog (Dog) [68]

Bernese Mountain Dog — Histiocytosis, malignant (hereditary; OMIA-verified breed predisposition)

Gen test: A pre-test, based on the results of Shearin et al. (2012) is available from Antagene: http://www.antagene.com/en/commander/histiocytic-sarcoma-pre-test. Given the results reported by Asada et al. (2019), namely that The mutation was detected in [only] 26 of 64 [affected] dogs (41%) and their conclusion that HS cells might acquire insAT in the TP53 gene during development of metastasis, but insAT was not a prognostic factor in canine HS, it would seem that insAT is not a useful marker. It has, therefore, been removed from the OMIA table of likely causal variants. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: P53 (Entrez Gene ID 403869) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 1993. Disseminated malignant histiocytosis in a Golden Retriever - clinicopathologic, ultrastructural, and immunohistochemical findings. Vet Pathol — PubMed:PMID8333107 | DOI:10.1177/030098589303000306 — OMIA Phene_Article / Article - 1995. Inheritance of histiocytosis in Bernese mountain dogs. Journal of Small Animal Practice — PubMed:PMID7783441 — OMIA Phene_Article / Article - 1995. Systemic histiocytosis in the Bernese mountain dog. Journal of Small Animal Practice — PubMed:PMID7650919 — OMIA Phene_Article / Article - 1996. Malignant histiocytosis in three Bernese Mountain dogs. Veterinary Record — PubMed:PMID8735262 — OMIA Phene_Article / Article - 2009. Epidemiology, pathology, and genetics of histiocytic sarcoma in the Bernese mountain dog breed. J Hered — PubMed:PMID19531730 | DOI:10.1093/jhered/esp039 — OMIA Phene_Article / Article - 2010. Malignant histiocytosis and other causes of death in Bernese mountain dogs in Denmark. Vet Rec — PubMed:PMID20154310 | DOI:10.1136/vr.b4756 — OMIA Phene_Article / Article - 2011. Molecular cytogenetic characterization of canine histiocytic sarcoma: A spontaneous model for human histiocytic cancer identifies deletion of tumor suppressor genes and highlights influence of genetic background on tumor behavior. BMC Cancer — PubMed:PMID21615919 | DOI:10.1186/1471-2407-11-201 — OMIA Phene_Article / Article - 2006. Evaluation of dysregulation of the receptor tyrosine kinases Kit, Flt3, and Met in histiocytic sarcomas of dogs. Am J Vet Res — PubMed:PMID16579756 | DOI:10.2460/ajvr.67.4.633 — OMIA Phene_Article / Article - 2012. The MTAP-CDKN2A locus confers susceptibility to a naturally occurring canine cancer. Cancer Epidemiol Biomarkers Prev — PubMed:PMID22623710 | DOI:10.1158/1055-9965.EPI-12-0190-T — OMIA Phene_Article / Article - 2013. Breed-predispositions to cancer in pedigree dogs. ISRN Vet Sci — PubMed:PMID23738139 | DOI:10.1155/2013/941275 — OMIA Phene_Article / Article - 2013. Gene expression profiling of histiocytic sarcomas in a canine model: the predisposed flatcoated retriever dog. PLoS One — PubMed:PMID23936488 | DOI:10.1371/journal.pone.0071094 — OMIA Phene_Article / Article - 2015. Histiocytic sarcoma with central nervous system involvement in dogs: 19 cases (2006-2012). J Vet Intern Med — PubMed:PMID25711602 | DOI:10.1111/jvim.12554 — OMIA Phene_Article / Article - (69 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:191170 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [168]

Bernese Mountain Dog — References relating to chronic kidney disease are included in this entry. (hereditary; OMIA-verified breed predisposition)

Disorder: References relating to chronic kidney disease are included in this entry. [169]

Summary: Information relating to autosomal recessive hereditary nephropathy due to COL4A4 variants have been moved to OMIA:002618-9615: Nephropathy, COL4A4 related in Canis lupus familiaris [1/2/2023] Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1990. Progressive nephropathy due to renal dysplasia in Shih-Tzu dogs in Sweden - A clinical pathological and genetic study.. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1987. Comparative pathology of canine hereditary nephropathies: an interpretative review. Veterinary Research Communications — PubMed:PMID3330354 — OMIA Phene_Article / Article - 1994. Familial nephropathy in Bernese Mountain Dogs. Veterinary Pathology — PubMed:PMID7941230 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9055399 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9076926 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a dalmatian. Veterinary Record — PubMed:PMID9080650 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Weimaraner dog. Journal of Small Animal Practice — PubMed:PMID9097243 — OMIA Phene_Article / Article - 2000. Juvenile nephropathy in a Boxer, a Rottweiler, a Collie and an Irish Wolfhound. Australian Veterinary Journal — PubMed:PMID10860153 — OMIA Phene_Article / Article - 2004. Juvenile nephropathy in two related Pembroke Welsh corgi puppies.. J Small Anim Pract — PubMed:PMID15553196 — OMIA Phene_Article / Article - 2013. Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs.. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID23464675 | DOI:10.1111/vec.12031 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome.. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2007. Histologic and ultrastructural studies of juvenile onset renal disease in four Rottweiler dogs.. Vet Pathol — PubMed:PMID17197631 | DOI:10.1354/vp.44-1-96 — OMIA Phene_Article / Article - (1 additional references in OMIA) - 1990. Progressive nephropathy due to renal dysplasia in Shih-Tzu dogs in Sweden - A clinical pathological and genetic study. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1987. Comparative pathology of canine hereditary nephropathies: an interpretative review. Veterinary Research Communications — PubMed:PMID3330354 — OMIA Phene_Article / Article - 1994. Familial nephropathy in Bernese Mountain Dogs. Veterinary Pathology — PubMed:PMID7941230 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9055399 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9076926 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a dalmatian. Veterinary Record — PubMed:PMID9080650 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Weimaraner dog. Journal of Small Animal Practice — PubMed:PMID9097243 — OMIA Phene_Article / Article - 2000. Juvenile nephropathy in a Boxer, a Rottweiler, a Collie and an Irish Wolfhound. Australian Veterinary Journal — PubMed:PMID10860153 — OMIA Phene_Article / Article - 2004. Juvenile nephropathy in two related Pembroke Welsh corgi puppies. J Small Anim Pract — PubMed:PMID15553196 — OMIA Phene_Article / Article - 2013. Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID23464675 | DOI:10.1111/vec.12031 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2007. Histologic and ultrastructural studies of juvenile onset renal disease in four Rottweiler dogs. Vet Pathol — PubMed:PMID17197631 | DOI:10.1354/vp.44-1-96 — OMIA Phene_Article / Article - (1 additional references in OMIA) - 1990. Progressive nephropathy due to renal dysplasia in Shih-Tzu dogs in Sweden - A clinical pathological and genetic study. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1987. Comparative pathology of canine hereditary nephropathies: an interpretative review. Veterinary Research Communications — PubMed:PMID3330354 — OMIA Phene_Article / Article - 1994. Familial nephropathy in Bernese Mountain Dogs. Veterinary Pathology — PubMed:PMID7941230 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9055399 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9076926 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a dalmatian. Veterinary Record — PubMed:PMID9080650 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Weimaraner dog. Journal of Small Animal Practice — PubMed:PMID9097243 — OMIA Phene_Article / Article - 2000. Juvenile nephropathy in a Boxer, a Rottweiler, a Collie and an Irish Wolfhound. Australian Veterinary Journal — PubMed:PMID10860153 — OMIA Phene_Article / Article - 2004. Juvenile nephropathy in two related Pembroke Welsh corgi puppies. J Small Anim Pract — PubMed:PMID15553196 — OMIA Phene_Article / Article - 2013. Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID23464675 | DOI:10.1111/vec.12031 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2007. Histologic and ultrastructural studies of juvenile onset renal disease in four Rottweiler dogs. Vet Pathol — PubMed:PMID17197631 | DOI:10.1354/vp.44-1-96 — OMIA Phene_Article / Article - (1 additional references in OMIA) - 1990. Progressive nephropathy due to renal dysplasia in Shih-Tzu dogs in Sweden - A clinical pathological and genetic study. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1987. Comparative pathology of canine hereditary nephropathies: an interpretative review. Veterinary Research Communications — PubMed:PMID3330354 — OMIA Phene_Article / Article - 1994. Familial nephropathy in Bernese Mountain Dogs. Veterinary Pathology — PubMed:PMID7941230 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9055399 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9076926 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a dalmatian. Veterinary Record — PubMed:PMID9080650 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Weimaraner dog. Journal of Small Animal Practice — PubMed:PMID9097243 — OMIA Phene_Article / Article - 2000. Juvenile nephropathy in a Boxer, a Rottweiler, a Collie and an Irish Wolfhound. Australian Veterinary Journal — PubMed:PMID10860153 — OMIA Phene_Article / Article - 2004. Juvenile nephropathy in two related Pembroke Welsh corgi puppies. J Small Anim Pract — PubMed:PMID15553196 — OMIA Phene_Article / Article - 2013. Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID23464675 | DOI:10.1111/vec.12031 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2007. Histologic and ultrastructural studies of juvenile onset renal disease in four Rottweiler dogs. Vet Pathol — PubMed:PMID17197631 | DOI:10.1354/vp.44-1-96 — OMIA Phene_Article / Article - (1 additional references in OMIA) - 1990. Progressive nephropathy due to renal dysplasia in Shih-Tzu dogs in Sweden - A clinical pathological and genetic study. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1987. Comparative pathology of canine hereditary nephropathies: an interpretative review. Veterinary Research Communications — PubMed:PMID3330354 — OMIA Phene_Article / Article - 1994. Familial nephropathy in Bernese Mountain Dogs. Veterinary Pathology — PubMed:PMID7941230 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9055399 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Dalmatian. Veterinary Record — PubMed:PMID9076926 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a dalmatian. Veterinary Record — PubMed:PMID9080650 — OMIA Phene_Article / Article - 1997. Juvenile nephropathy in a Weimaraner dog. Journal of Small Animal Practice — PubMed:PMID9097243 — OMIA Phene_Article / Article - 2000. Juvenile nephropathy in a Boxer, a Rottweiler, a Collie and an Irish Wolfhound. Australian Veterinary Journal — PubMed:PMID10860153 — OMIA Phene_Article / Article - 2004. Juvenile nephropathy in two related Pembroke Welsh corgi puppies. J Small Anim Pract — PubMed:PMID15553196 — OMIA Phene_Article / Article - 2013. Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID23464675 | DOI:10.1111/vec.12031 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2007. Histologic and ultrastructural studies of juvenile onset renal disease in four Rottweiler dogs. Vet Pathol — PubMed:PMID17197631 | DOI:10.1354/vp.44-1-96 — OMIA Phene_Article / Article - (1 additional references in OMIA) [169]

Bichon Frise — Curly coat (hereditary; OMIA-verified breed predisposition)

Breed: Bichon Frise (Dog) [170]

Prevalence: Bauer et al. (2019) found that the [c.1266_1273delinsACA] variant was fixed in a cohort of 125 Curly Coated Retrievers and segregating in five of 14 additionally tested breeds with a curly or wavy coat. Salmela et al. (2019): The [c.1266_1273delinsACA] variant was also found at lower frequencies in five other breeds, including Lagotto Romagnolo, Bichon Frise, Spanish Water Dog, Chesapeake Bay Retriever and Irish Terrier. These authors also reported that One curly-coated Lagotto carried neither of the two KRT71 variants, indicating that not all the likely causal variants have yet been discovered. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 23860798 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Fine-mapping and subsequent sequencing within the candidate region on CFA27 (see Mapping section) enabled Cadieu et al. (2009) to identify the causal mutation as a missense SNP (Arg151Trp) in the KRT71 gene. In adjacent papers published online just three days apart, Bauer et al. (2019) and Salmela et al. (2019) independently reported a second likely causal variant (c.1266_1273delinsACA) in Curly C… Evidence (references) - 2009. Coat variation in the domestic dog is governed by variants in three genes. Science — PubMed:PMID19713490 | DOI:10.1126/science.1177808 — OMIA Phene_Article / Article - 2012. Keratin 71 mutations: from water dogs to woolly hair. J Invest Dermatol — PubMed:PMID22971920 | DOI:10.1038/jid.2012.291 — OMIA Phene_Article / Article - 2017. The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci — PubMed:PMID27994129 | DOI:10.1098/rstb.2015.0488 — OMIA Phene_Article / Article - 2019. A second KRT71 allele in curly coated dogs. Anim Genet — PubMed:PMID30444027 | DOI:10.1111/age.12743 — OMIA Phene_Article / Article - 2019. A novel KRT71 variant in curly-coated dogs. Anim Genet — PubMed:PMID30456859 | DOI:10.1111/age.12746 — OMIA Phene_Article / Article - 2019. True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential. PLoS One — PubMed:PMID31658272 | DOI:10.1371/journal.pone.0223995 — OMIA Phene_Article / Article - 2021. Corrigendum: A second KRT71 allele in curly coated dogs. Anim Genet — PubMed:PMID34196995 | DOI:10.1111/age.13098 — OMIA Phene_Article / Article - 2023. Analysis of Doberman Pinscher and Toy Poodle samples with targeted next-generation sequencing. Gene — PubMed:PMID36427679 | DOI:10.1016/j.gene.2022.147069 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608245 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [170]

Black Russian Terrier — Hyperuricosuria and hyperuricemia (hereditary; OMIA-verified breed predisposition)

Breed: Black Russian Terrier (Dog) [95]

Black and Tan Coonhound — FXIII (hereditary; OMIA-verified breed predisposition)

Breed: Black and Tan Coonhound (Dog) [171]

Disorder: FXIII [171]

Clin feat: Pieples et al. (2026): A 4-month-old male Black and Tan Coonhound presented with spontaneous hemoperitoneum, thrombocytopenia, and persistent bleeding after surgical procedures.. A functional FXIII deficiency was identified.. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299111 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Pieples et al. (2026) identified a homozygous variant (c.1234_1239delinsTCAA) in exon 11 of F13A1 (omia.variant:1910) that predicts a frameshift and premature stop codon as likely causal variant in a Black and Tan Coonhound. Evidence (references) - 2026. Identification of an F13A1 frameshift variant associated with factor XIII deficiency in a Coonhound dog with severe coagulopathy. J Vet Intern Med — PubMed:PMID42184124 | DOI:10.1093/jvimsj/aalag093 — OMIA Phene_Article / Article - 2014. Recurrent episodes of severe bleeding caused by congenital factor XIII deficiency in a dog. J Am Vet Med Assoc — PubMed:PMID25356716 | DOI:10.2460/javma.245.10.1147 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613225 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:134570 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [171]

Bloodhound — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Bloodhound (Dog) [68]

Bluetick Coonhound — globoid cell leukodystrophy (hereditary; OMIA-verified breed predisposition)

Breed: Bluetick Coonhound (Dog) [117]

Boerboel — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)

Breed: Boerboel (Dog) [76]

Border Collie — Autosomal dominant centronuclear myopathy (hereditary; OMIA-verified breed predisposition)

Breed: Border Collie (Dog) [172]

Disorder: Autosomal dominant centronuclear myopathy [172]

Summary: Böhm et al. (2022) proposed that affected dogs be called DNM2-CNM dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388251079 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing functional candidate genes in an affected Border Collie, Böhm et al. (2022) discovered that this dog was heterozygous for a missense mutation in the DNM2 gene. The likely causal variant (c.1393C>T; R465W) happens to be the same as the most common causal variant in this gene in humans. Evidence (references) - 2022. A dog model for centronuclear myopathy (CNM) carrying the most common DNM2 mutation. Dis Model Mech — PubMed:PMID35244154 | DOI:10.1242/dmm.049219 — OMIA Phene_Article / Article - 2012. Centronuclear myopathy in a Border collie dog. J Small Anim Pract — PubMed:PMID23013377 | DOI:10.1111/j.1748-5827.2012.01265.x — OMIA Phene_Article / Article - 2014. Identification of the mutation causing centronuclear myopathy in a border collie. Vet Rec — PubMed:PMID25081885 | DOI:10.1136/vr.g4883 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:160150 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602378 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [172]

Border Collie — Deafness, adult-onset (hereditary; OMIA-verified breed predisposition)

Clin feat: As reported by Yokoyama et al. (2012): the owners of the dogs included in this study estimated the age of onset of hearing loss based upon close observations of behavioral characteristics in working dogs indicating poor hearing (e.g., reduced call distance, poor performance). The average estimated age of onset was 4.3 years (S.E. of 0.5 years), with a range of 1–9 years. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2012. Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies.. PLoS Genet — PubMed:PMID23028339 | DOI:10.1371/journal.pgen.1002898 — OMIA Phene_Article / Article - 2014. An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs.. Canine Genet Epidemiol — PubMed:PMID26401323 | DOI:10.1186/2052-6687-1-6 — OMIA Phene_Article / Article - 2012. Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies. PLoS Genet — PubMed:PMID23028339 | DOI:10.1371/journal.pgen.1002898 — OMIA Phene_Article / Article - 2014. An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs. Canine Genet Epidemiol — PubMed:PMID26401323 | DOI:10.1186/2052-6687-1-6 — OMIA Phene_Article / Article - 2012. Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies. PLoS Genet — PubMed:PMID23028339 | DOI:10.1371/journal.pgen.1002898 — OMIA Phene_Article / Article - 2014. An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs. Canine Genet Epidemiol — PubMed:PMID26401323 | DOI:10.1186/2052-6687-1-6 — OMIA Phene_Article / Article - 2012. Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies. PLoS Genet — PubMed:PMID23028339 | DOI:10.1371/journal.pgen.1002898 — OMIA Phene_Article / Article - 2014. An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs. Canine Genet Epidemiol — PubMed:PMID26401323 | DOI:10.1186/2052-6687-1-6 — OMIA Phene_Article / Article - 2012. Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies. PLoS Genet — PubMed:PMID23028339 | DOI:10.1371/journal.pgen.1002898 — OMIA Phene_Article / Article - 2014. An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs. Canine Genet Epidemiol — PubMed:PMID26401323 | DOI:10.1186/2052-6687-1-6 — OMIA Phene_Article / Article [173]

Border Collie — Dental hypomineralization (hereditary; OMIA-verified breed predisposition)

Clin feat: Hytönen et a. (2016) were approached by a Border Collie breeder with a family of several affected dogs that suffered from severe tooth wear resulting in pulpitis and requiring extraction of those teeth Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388255609 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Hytönen et al. (2016): the likely causal mutation in Border Collies is a "non-synonymous [missense] homozygous variant, c.899C>T, in the FAM20C gene. This leads to a missense change, p.A300V, in a highly conserved position in the kinase domain of the FAM20C protein". Evidence (references) - 2016. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS Genet — PubMed:PMID27187611 | DOI:10.1371/journal.pgen.1006037 — OMIA Phene_Article / Article - 2016. Canine models of human rare disorders. Rare Dis — PubMed:PMID27803843 | DOI:10.1080/21675511.2016.1241362 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:259775 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611061 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [174]

Border Collie — Exercise-induced collapse (hereditary; OMIA-verified breed predisposition)

Summary: Exercise-induced collapse (EIC) is an inherited neuromuscular disorder characterized by exercise intolerance in otherwise healthy young adult dogs. Clinical signs are precipitated by strenuous exercise. A causative mutation in dynamin 1 has been identified in retriever breeds listed below, but not yet in Border Collies. [Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT in 2011; revised by FN 29 Oct 2020] [175]

Clin feat: Affected dogs have normal muscle mass, normal patellar reflexes before an episode of EIC, normal findings on muscle biopsy and are capable of moderate exertion without showing signs (Taylor et al., 2008, Patterson et al., 2008). Signs begin within 2 minutes after cessation of 5 to 15 minutes of strenuous exercise. Affected dogs develop a wobbly gait with hindlimb weakness and incoordination, wide based stance, and walking with crouched hind legs. Signs can progress to full body weakness, extensor rigidity, confusion, loss of consciousness, and rarely death. Episodes frequently last 5-10 minutes, often with complete recovery after 30 minutes. Loss of patellar reflexes persists after initial recovery. [175]

Pathology: Dynamin 1 is a type of GTPase that facilitates continuous neurotransmission across synapses. At the presynaptic terminal membrane, it assists in release of membrane vesicles containing neurotransmitter, which is needed for continuous synaptic communication (Patterson et al 2008). During high intensity exercise, DNM1 activity is inadequate to maintain synaptic transmission, which causes reversible loss of motor function (Patterson et al., 2008). [175]

Prevalence: In a population of 400 Labrador Retrievers from the Midwestern US, 37% were carriers and 3% were homozygous for the causative mutation. This suggests a high frequency of this mutation in Labrador Retrievers. Homozygous Labrador Retrievers have also been found in Europe, the Middle East, and Australia (Patterson et al., 2008). [175]

Control: It is recommended that working dogs or those showing signs be tested, as well as relatives of affected dogs. Breeding of homozygous dogs should be avoided. Breeding of carriers to noncarriers will avoid production of affected dogs. [updated 29 Oct 2020, with thanks to Frank Coopman] [175]

Gen test: A test is available to detect carriers and homozygotes (Patterson et al, 2008). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3487940 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The causative mutation in Labrador retrievers, Chesapeake Bay retrievers and curly-coated retrievers is a G to T substitution in exon 6 that changes the amino acid codon from arginine to leucine (R256L) in a highly conserved region of DNM1 (Patterson et al., 2008). Evidence (references) - 2008. A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat Genet — PubMed:PMID18806795 | DOI:10.1038/ng.224 — OMIA Phene_Article / Article - 1999. Changes in rectal temperature and hematologic, biochemical, blood gas, and acid-base values in healthy Labrador Retrievers before and after strenuous exercise. Am J Vet Res — PubMed:PMID9918153 — OMIA Phene_Article / Article - 2011. Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds. Vet J — PubMed:PMID21782486 | DOI:10.1016/j.tvjl.2011.06.022 — OMIA Phene_Article / Article - 2009. Evaluations of labrador retrievers with exercise-induced collapse, including response to a standardized strenuous exercise protocol. J Am Anim Hosp Assoc — PubMed:PMID19122058 — OMIA Phene_Article / Article - 2008. Exercise-induced collapse of Labrador retrievers: survey results and preliminary investigation of heritability. J Am Anim Hosp Assoc — PubMed:PMID18981194 — OMIA Phene_Article / Article - 2012. Genotyping of exercise-induced collapse in Labrador retrievers using an allele-specific PCR. Vet J — PubMed:PMID22104507 | DOI:10.1016/j.tvjl.2011.10.018 — OMIA Phene_Article / Article - 2011. [Frequency of gene defects in selected European retriever populations]. Schweiz Arch Tierheilkd — PubMed:PMID21866517 | DOI:10.1024/0036-7281/a000236 — OMIA Phene_Article / Article - 2013. Suspected exercise-induced seizures in a young dog. J Small Anim Pract — PubMed:PMID23387942 | DOI:10.1111/jsap.12028 — OMIA Phene_Article / Article - 2013. Relationship between dynamin 1 mutation status and characteristics of recurrent episodes of exercise-induced collapse in Labrador Retrievers. J Am Vet Med Assoc — PubMed:PMID23445289 | DOI:10.2460/javma.242.6.786 — OMIA Phene_Article / Article - 2013. The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One — PubMed:PMID24069350 | DOI:10.1371/journal.pone.0074811 — OMIA Phene_Article / Article - 2016. Evaluation of Dogs with Border Collie Collapse, Including Response to Two Standardized Strenuous Exercise Protocols. J Am Anim Hosp Assoc — PubMed:PMID27487345 | DOI:10.5326/JAAHA-MS-6361 — OMIA Phene_Article / Article - 2016. Border Collie Collapse: Owner Survey Results and Veterinary Description of Videotaped Episodes. J Am Anim Hosp Assoc — PubMed:PMID27685362 | DOI:10.5326/JAAHA-MS-6436 — OMIA Phene_Article / Article - (4 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:602377 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616346 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [175]

Border Collie — Sensory neuropathy; hereditary sensory and autonomic neuropathy (hereditary; OMIA-verified breed predisposition)

Disorder: Sensory neuropathy; hereditary sensory and autonomic neuropathy [176]

Clin feat: Forman et al. (2106): Clinical signs start between two and seven months of age and include progressive proprioceptive ataxia with intermittent knuckling of the paws, hyperextension of the limbs, and self-mutilation wounds in the distal part of the limbs.... Usually, the pelvic limbs are more severely affected than the thoracic limbs. There is decreased or loss of proprioception and nociception in all limbs, and in some cases autonomic signs such as urinary incontinence and in the later stage regurgitation has also been reported (Vermeersch et al. 2005). Electrophysiological studies show decreased or absent sensory nerve compound action potentials, normal or reduced motor nerve conduction velocities and normal electromyography in the appendicular muscles. Gutierrez-Quintana et al. (2021): Five related mixed breed puppies from 2 litters were presented over a 2-year period.. All had a previous history of severe mutilation of the distal pelvic limbs and chronic progressive pelvic limb gait abnormalities.. Electrodiagnostic testing was performed. and abnormalities were limited to the absence of sensory nerve action potentials (SNAP) during sensory nerve stimulation. [176]

Pathology: Gutierrez-Quintana et al. (2021): No macroscopic changes were observed. Histopathological abnormalities were limited to the peripheral nerves, dorsal root ganglia, and autonomic ganglia. Nerve histology indicated moderate myelinated fiber loss and axonal features compatible with Wallerian degeneration with some dystrophic changes. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388247158 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Forman et al. (2016): "6.47 Mb inversion [omia.variant:752] was identified with breakpoints in intron 3 of FAM134B (chr4:86,910,352) and in an upstream intergenic region (chr4:80,439,639) . . . All three cases were homozygous for the inversion and all 170 controls homozygous for the reference allele." Amengual-Batle et al. (2018) reported the same variant in two affected mixed-breed dogs. <br… Evidence (references) - 2005. Sensory neuropathy in two Border Collie puppies. J Small Anim Pract — PubMed:PMID15971901 | DOI:10.1111/j.1748-5827.2005.tb00324.x — OMIA Phene_Article / Article - 2005. Sensory and motor neuropathy in a Border Collie. J Am Vet Med Assoc — PubMed:PMID16266014 | DOI:10.2460/javma.2005.227.1263 — OMIA Phene_Article / Article - 2016. An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed. G3 (Bethesda) — PubMed:PMID27527794 | DOI:10.1534/g3.116.027896 — OMIA Phene_Article / Article - 1987. Sensory neuropathy in a Border Collie puppy. Journal of Small Animal Practice — OMIA Phene_Article / Article - 2018. Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies. J Vet Intern Med — PubMed:PMID30307654 | DOI:10.1111/jvim.15312 — OMIA Phene_Article / Article - 2019. Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Hum Genet — PubMed:PMID30955094 | DOI:10.1007/s00439-019-02003-x — OMIA Phene_Article / Article - 2013. Pathological features of polyneuropathy in three dogs. J Vet Med Sci — PubMed:PMID23123885 | DOI:10.1292/jvms.12-0224 — OMIA Phene_Article / Article - 2021. Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant. J Vet Intern Med — PubMed:PMID34387380 | DOI:10.1111/jvim.16242 — OMIA Phene_Article / Article - 1982. The pathology of a sensory neuropathy affecting Long Haired Dachshund dogs. Acta Neuropathol — PubMed:PMID6295050 | DOI:10.1007/BF00691655 — OMIA Phene_Article / Article - 1992. Sensory neuropathy in a Jack Russell terrier. J Small Anim Pract — DOI:https://doi.org/10.1111/j.1748-5827.1992.tb01188.x — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article - 2024. A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz. Anim Genet — PubMed:PMID39377488 | DOI:10.1111/age.13482 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613115 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613114 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [176]

Border Collie — The term 'inflammatory bowel disease' has been used historically to describe canine chronic enteropathy / chronic inflammatory enteropathy (CIE) (hereditary; OMIA-verified breed predisposition)

Disorder: The term 'inflammatory bowel disease' has been used historically to describe canine chronic enteropathy / chronic inflammatory enteropathy (CIE) [177]

Prevalence: From a survey of case reports of dogs in south-eastern UK, Kathrani et al. (2011) reported several breeds listed on this page as being at significantly higher risk of developing IBD. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: IBD; CIE (no structured Phene_Gene link) Evidence (references) - 2011. Canine breeds at high risk of developing inflammatory bowel disease in the south-eastern UK. Vet Rec — PubMed:PMID21896567 | DOI:10.1136/vr.d5380 — OMIA Phene_Article / Article - 2012. TLR5 Risk-Associated Haplotype for Canine Inflammatory Bowel Disease Confers Hyper-Responsiveness to Flagellin. PLoS One — PubMed:PMID22279566 | DOI:10.1371/journal.pone.0030117 — OMIA Phene_Article / Article - 2011. Quantification of chemokine and chemokine receptor gene expression in duodenal mucosa of dogs with inflammatory bowel disease. Vet Immunol Immunopathol — PubMed:PMID21996024 | DOI:10.1016/j.vetimm.2011.08.020 — OMIA Phene_Article / Article - 2011. Breed-independent toll-like receptor 5 polymorphisms show association with canine inflammatory bowel disease. Tissue Antigens — PubMed:PMID21623734 | DOI:10.1111/j.1399-0039.2011.01707.x — OMIA Phene_Article / Article - 2011. CD11c+ cells are significantly decreased in the duodenum, ileum and colon of dogs with inflammatory bowel disease. J Comp Pathol — PubMed:PMID21592490 | DOI:10.1016/j.jcpa.2011.03.010 — OMIA Phene_Article / Article - 2011. What is the evidence? Inflammatory bowel disease in a dog. J Am Vet Med Assoc — PubMed:PMID21529230 | DOI:10.2460/javma.238.9.1111 — OMIA Phene_Article / Article - 2011. Treatment of inflammatory bowel disease (IBD) in dogs and cats. Pol J Vet Sci — PubMed:PMID21528730 — OMIA Phene_Article / Article - 2011. Pitfalls and progress in the diagnosis and management of canine inflammatory bowel disease. Vet Clin North Am Small Anim Pract — PubMed:PMID21486642 | DOI:10.1016/j.cvsm.2011.02.003 — OMIA Phene_Article / Article - 2010. Polymorphisms in the TLR4 and TLR5 gene are significantly associated with inflammatory bowel disease in German shepherd dogs. PLoS One — PubMed:PMID21203467 | DOI:10.1371/journal.pone.0015740 — OMIA Phene_Article / Article - 2010. Inflammatory bowel disease in the dog: differences and similarities with humans. World J Gastroenterol — PubMed:PMID20205273 — OMIA Phene_Article / Article - 2018. Genome-wide association studies of inflammatory bowel disease in German shepherd dogs. PLoS One — PubMed:PMID30028859 | DOI:10.1371/journal.pone.0200685 — OMIA Phene_Article / Article - 2021. Dog leukocyte antigen (DLA) class II genotypes associated with chronic enteropathy in French bulldogs and miniature dachshunds. Vet Immunol Immunopathol — PubMed:PMID34044267 | DOI:10.1016/j.vetimm.2021.110271 — OMIA Phene_Article / Article - (18 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:266600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [177]

Border Collie — Trapped Neutrophil Syndrome (hereditary; OMIA-verified breed predisposition)

Clin feat: Affected dogs present with fever, gastrointestinal signs, polyarthritis, joint effusion, and lameness and failure to thrive between 6 and 12 weeks of age and have a characteristic ‘ferret-like’ elongated face (Allen et al., 1996; Shearman & Wilton, 2011; Mizukami et al., 2012; Mason et al., 2014; Hegler et al., 2020). Proprioception and placing and hopping reflexes were markedly reduced, while skin reflex and deep pain sensations were normal (Mizukami et al., 2012). Decreased level of consciousness, astasia, and incontinence were also reported by Mizukami et al. (2012). Ill thrift and continued recurrent/chronic infections are hallmark features (Hegler et al., 2020). Dogs are commonly dying or being euthanised by one year of age (Wouda et al. 2010). [178]

Pathology: Hegler et al. (2020) and Mizukami et al. (2013) discuss trapped neutrophil syndrome as a condition characterised by retention of neutrophils in the bone marrow of Border Collies. Whilst understanding of pathophysiological mechanisms is incomplete, neutrophils are seen to move inadequately from their haemopoietic site in bone marrow, to peripheral circulation (Mizukami et al., 2012). The two major features are reduced circulating neutrophil numbers (peripheral neutropoenia) and intramedullary myeloid hyperplasia (Mason et al., 2014). Eosinophilia, monocytosis, hypercholesterolaemia and nRBC in circulation and non-regenerative anaemia are reported (Mizukami et al., 2013). Radiographs showed capsular joint swelling and heterogeneous metaphyseal radiolucencies in multiple joints and cytology revealed non-degenerate neutrophilic inflammation in multiple joints (Hegler et al., 2020). [178]

Gen test: Having developed a novel MAS-PCR assay targeting the VPS13B gene, Lerdkrai and Phungphosop (2023) demonstrated for the first time that carriers of [the likely causal 4bp deletion (OMIA variant 478) for] TNS exist in Border Collies in Thailand. The authors also reported that their assay is a reliable and cost-effective tool for diagnosing TNS based on VPS13B genotypes and is suitable for routine clinical practice. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 27951711 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Starting with a list of candidate genes based on comparative clinical signs in other species (especially humans), Shearman and Wilton (2011) used linkage analysis to eventually narrow the field down to the VPS13B gene. They "sequenced each of the 63 exons of VPS13B in affected and control dogs and found that the causative mutation in Border collies is a 4 bp deletion in exon 19 of the largest tran… Evidence (references) - 1996. Neutropenia with a probable hereditary basis in Border Collies. New Zealand Veterinary Journal — PubMed:PMID16031897 | DOI:10.1080/00480169.1996.35937 — OMIA Phene_Article / Article - 2006. Exclusion of CXCR4 as the cause of trapped neutrophil syndrome in Border Collies using five microsatellites on canine chromosome 19. Anim Genet — PubMed:PMID16441310 | DOI:10.1111/j.1365-2052.2005.01413.x — OMIA Phene_Article / Article - 2007. Elimination of neutrophil elastase and the genes for [corrected] adaptor protein complex 3 subunits [corrected] as the cause of trapped neutrophil syndrome in Border collies. Anim Genet — PubMed:PMID17302793 | DOI:10.1111/j.1365-2052.2007.01565.x — OMIA Phene_Article / Article - 2011. A canine model of Cohen syndrome: trapped neutrophil syndrome. BMC Genomics — PubMed:PMID21605373 | DOI:10.1186/1471-2164-12-258 — OMIA Phene_Article / Article - 2013. Real-time PCR genotyping assay for canine trapped neutrophil syndrome and high frequency of the mutant allele in Border collies. Vet J — PubMed:PMID22795605 | DOI:10.1016/j.tvjl.2012.06.014 — OMIA Phene_Article / Article - 2012. Trapped neutrophil syndrome in a Border Collie dog: clinical, clinico-pathologic, and molecular findings. J Vet Med Sci — PubMed:PMID22240985 | DOI:10.1292/jvms.11-0472 — OMIA Phene_Article / Article - 2016. Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J — PubMed:PMID27387721 | DOI:10.1016/j.tvjl.2016.05.004 — OMIA Phene_Article / Article - 2021. Evaluation of genetic diversity and management of disease in Border Collie dogs. Sci Rep — PubMed:PMID33737533 | DOI:10.1038/s41598-021-85262-x — OMIA Phene_Article / Article - 2020. Trapped neutrophil syndrome in a Border Collie. J Am Anim Hosp Assoc — PubMed:PMID32182118 | DOI:10.5326/JAAHA-MS-6981 — OMIA Phene_Article / Article - 2014. Presentation and management of trapped neutrophil syndrome (TNS) in UK Border collies. J Small Anim Pract — PubMed:PMID24032537 | DOI:10.1111/jsap.12134 — OMIA Phene_Article / Article - 2010. Long-term management of trapped neutrophil syndrome in two Border Collies. Australian Veterinary Practitioner — OMIA Phene_Article / Article - 2022. Multiorgan neutrophilic inflammation in a Border Collie with "trapped" neutrophil syndrome. J Vet Intern Med — PubMed:PMID36239343 | DOI:10.1111/jvim.16567 — OMIA Phene_Article / Article - (4 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:216550 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607817 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [178]

Border Terrier — Fanconi syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Border Terrier (Dog) [179]

Summary: Fanconi syndrome is a proximal renal tubular defect affecting the resorption of various substances filtered by the glomeruli. In addition to genetic forms, acquired proximal renal tubulopathies are also called Fanconi syndrome and have been reported in dogs to be related to excessive ingestion of jerky treats, gentamicin therapy, primary hypoparathyroidism, ethylene glycol toxicity, presumed pyelonephritis and copper storage hepatopathy. This entry lists references to (suspected) genetic and acquired forms of the disease. Information relating to inherited Fanconi Syndrome in Basenji dogs due to a mutation in the FAN1 gene have been moved to '[OMIA:002683-9615]: Fanconi syndrome, FAN1-related in Canis lupus familiaris' [2/5/2023] Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1970. Familial renal disease in Norwegian Elkhound dogs. J Am Vet Med Assoc — PubMed:PMID5462987 — OMIA Phene_Article / Article - 1993. Canine Fanconi syndrome.. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Fanconi syndrome in a Labrador Retriever. Journal of Veterinary Internal Medicine — PubMed:PMID7884724 — OMIA Phene_Article / Article - 1995. Fanconi Syndrome associated with amoxicillin therapy in the dog. Canine Practice — OMIA Phene_Article / Article - 1996. Congenital Fanconi syndrome associated with renal dysplasia in 2 Border Terriers. Journal of Veterinary Internal Medicine — PubMed:PMID8947876 — OMIA Phene_Article / Article - 2004. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome.. J Am Vet Med Assoc — PubMed:PMID15328712 | DOI:10.2460/javma.2004.225.377 — OMIA Phene_Article / Article - 2004. Transient proximal renal tubular acidosis and Fanconi syndrome in a dog.. J Am Vet Med Assoc — PubMed:PMID15154730 — OMIA Phene_Article / Article - 1979. Characterization of renal defects in dogs with a syndrome similar to the Fanconi syndrome in man.. J Am Vet Med Assoc — PubMed:PMID438041 — OMIA Phene_Article / Article - 1978. Spontaneous Fanconi syndrome in the dog.. Metabolism — PubMed:PMID619225 | DOI:10.1016/0026-0495(78)90122-1 — OMIA Phene_Article / Article - 2011. Fanconi syndrome in four non-basenji dogs exposed to chicken jerky treats.. J Am Anim Hosp Assoc — PubMed:PMID22058368 | DOI:10.5326/JAAHA-MS-5602 — OMIA Phene_Article / Article - 2008. Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog.. J Vet Intern Med — PubMed:PMID18289313 | DOI:10.1111/j.1939-1676.2007.0040.x — OMIA Phene_Article / Article - 2014. Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats.. Schweiz Arch Tierheilkd — PubMed:PMID25497565 | DOI:10.1024/0036-7281/a000655 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1970. Familial renal disease in Norwegian Elkhound dogs. J Am Vet Med Assoc — PubMed:PMID5462987 — OMIA Phene_Article / Article - 1993. Canine Fanconi syndrome. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Fanconi syndrome in a Labrador Retriever. Journal of Veterinary Internal Medicine — PubMed:PMID7884724 — OMIA Phene_Article / Article - 1995. Fanconi Syndrome associated with amoxicillin therapy in the dog. Canine Practice — OMIA Phene_Article / Article - 1996. Congenital Fanconi syndrome associated with renal dysplasia in 2 Border Terriers. Journal of Veterinary Internal Medicine — PubMed:PMID8947876 — OMIA Phene_Article / Article - 2004. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc — PubMed:PMID15328712 | DOI:10.2460/javma.2004.225.377 — OMIA Phene_Article / Article - 2004. Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. J Am Vet Med Assoc — PubMed:PMID15154730 — OMIA Phene_Article / Article - 1979. Characterization of renal defects in dogs with a syndrome similar to the Fanconi syndrome in man. J Am Vet Med Assoc — PubMed:PMID438041 — OMIA Phene_Article / Article - 1978. Spontaneous Fanconi syndrome in the dog. Metabolism — PubMed:PMID619225 | DOI:10.1016/0026-0495(78)90122-1 — OMIA Phene_Article / Article - 2011. Fanconi syndrome in four non-basenji dogs exposed to chicken jerky treats. J Am Anim Hosp Assoc — PubMed:PMID22058368 | DOI:10.5326/JAAHA-MS-5602 — OMIA Phene_Article / Article - 2008. Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog. J Vet Intern Med — PubMed:PMID18289313 | DOI:10.1111/j.1939-1676.2007.0040.x — OMIA Phene_Article / Article - 2014. Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats. Schweiz Arch Tierheilkd — PubMed:PMID25497565 | DOI:10.1024/0036-7281/a000655 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1970. Familial renal disease in Norwegian Elkhound dogs. J Am Vet Med Assoc — PubMed:PMID5462987 — OMIA Phene_Article / Article - 1993. Canine Fanconi syndrome. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Fanconi syndrome in a Labrador Retriever. Journal of Veterinary Internal Medicine — PubMed:PMID7884724 — OMIA Phene_Article / Article - 1995. Fanconi Syndrome associated with amoxicillin therapy in the dog. Canine Practice — OMIA Phene_Article / Article - 1996. Congenital Fanconi syndrome associated with renal dysplasia in 2 Border Terriers. Journal of Veterinary Internal Medicine — PubMed:PMID8947876 — OMIA Phene_Article / Article - 2004. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc — PubMed:PMID15328712 | DOI:10.2460/javma.2004.225.377 — OMIA Phene_Article / Article - 2004. Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. J Am Vet Med Assoc — PubMed:PMID15154730 — OMIA Phene_Article / Article - 1979. Characterization of renal defects in dogs with a syndrome similar to the Fanconi syndrome in man. J Am Vet Med Assoc — PubMed:PMID438041 — OMIA Phene_Article / Article - 1978. Spontaneous Fanconi syndrome in the dog. Metabolism — PubMed:PMID619225 | DOI:10.1016/0026-0495(78)90122-1 — OMIA Phene_Article / Article - 2011. Fanconi syndrome in four non-basenji dogs exposed to chicken jerky treats. J Am Anim Hosp Assoc — PubMed:PMID22058368 | DOI:10.5326/JAAHA-MS-5602 — OMIA Phene_Article / Article - 2008. Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog. J Vet Intern Med — PubMed:PMID18289313 | DOI:10.1111/j.1939-1676.2007.0040.x — OMIA Phene_Article / Article - 2014. Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats. Schweiz Arch Tierheilkd — PubMed:PMID25497565 | DOI:10.1024/0036-7281/a000655 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1970. Familial renal disease in Norwegian Elkhound dogs. J Am Vet Med Assoc — PubMed:PMID5462987 — OMIA Phene_Article / Article - 1993. Canine Fanconi syndrome. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Fanconi syndrome in a Labrador Retriever. Journal of Veterinary Internal Medicine — PubMed:PMID7884724 — OMIA Phene_Article / Article - 1995. Fanconi Syndrome associated with amoxicillin therapy in the dog. Canine Practice — OMIA Phene_Article / Article - 1996. Congenital Fanconi syndrome associated with renal dysplasia in 2 Border Terriers. Journal of Veterinary Internal Medicine — PubMed:PMID8947876 — OMIA Phene_Article / Article - 2004. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc — PubMed:PMID15328712 | DOI:10.2460/javma.2004.225.377 — OMIA Phene_Article / Article - 2004. Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. J Am Vet Med Assoc — PubMed:PMID15154730 — OMIA Phene_Article / Article - 1979. Characterization of renal defects in dogs with a syndrome similar to the Fanconi syndrome in man. J Am Vet Med Assoc — PubMed:PMID438041 — OMIA Phene_Article / Article - 1978. Spontaneous Fanconi syndrome in the dog. Metabolism — PubMed:PMID619225 | DOI:10.1016/0026-0495(78)90122-1 — OMIA Phene_Article / Article - 2011. Fanconi syndrome in four non-basenji dogs exposed to chicken jerky treats. J Am Anim Hosp Assoc — PubMed:PMID22058368 | DOI:10.5326/JAAHA-MS-5602 — OMIA Phene_Article / Article - 2008. Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog. J Vet Intern Med — PubMed:PMID18289313 | DOI:10.1111/j.1939-1676.2007.0040.x — OMIA Phene_Article / Article - 2014. Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats. Schweiz Arch Tierheilkd — PubMed:PMID25497565 | DOI:10.1024/0036-7281/a000655 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1970. Familial renal disease in Norwegian Elkhound dogs. J Am Vet Med Assoc — PubMed:PMID5462987 — OMIA Phene_Article / Article - 1993. Canine Fanconi syndrome. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Fanconi syndrome in a Labrador Retriever. Journal of Veterinary Internal Medicine — PubMed:PMID7884724 — OMIA Phene_Article / Article - 1995. Fanconi Syndrome associated with amoxicillin therapy in the dog. Canine Practice — OMIA Phene_Article / Article - 1996. Congenital Fanconi syndrome associated with renal dysplasia in 2 Border Terriers. Journal of Veterinary Internal Medicine — PubMed:PMID8947876 — OMIA Phene_Article / Article - 2004. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc — PubMed:PMID15328712 | DOI:10.2460/javma.2004.225.377 — OMIA Phene_Article / Article - 2004. Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. J Am Vet Med Assoc — PubMed:PMID15154730 — OMIA Phene_Article / Article - 1979. Characterization of renal defects in dogs with a syndrome similar to the Fanconi syndrome in man. J Am Vet Med Assoc — PubMed:PMID438041 — OMIA Phene_Article / Article - 1978. Spontaneous Fanconi syndrome in the dog. Metabolism — PubMed:PMID619225 | DOI:10.1016/0026-0495(78)90122-1 — OMIA Phene_Article / Article - 2011. Fanconi syndrome in four non-basenji dogs exposed to chicken jerky treats. J Am Anim Hosp Assoc — PubMed:PMID22058368 | DOI:10.5326/JAAHA-MS-5602 — OMIA Phene_Article / Article - 2008. Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog. J Vet Intern Med — PubMed:PMID18289313 | DOI:10.1111/j.1939-1676.2007.0040.x — OMIA Phene_Article / Article - 2014. Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats. Schweiz Arch Tierheilkd — PubMed:PMID25497565 | DOI:10.1024/0036-7281/a000655 — OMIA Phene_Article / Article - (6 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:227810 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:138160 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:227810 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:138160 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:227810 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:138160 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:227810 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:138160 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:227810 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:138160 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [179]

Border Terrier — Phloiokeratosis, SUV39H1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Kiener et al. (2026): Affected dogs presented with multifocal hyperkeratotic skin lesions. The lesions in male dogs were arranged in a bilaterally symmetrical distribution, whereas in several female cases, lesions followed Blaschko lines and were not symmetric.. The appearance of the lesions was reminiscent of tree bark. [180]

Pathology: Kiener et al. (2026) describe histological changes as severe mostly compact epidermal and infundibular hyperkeratosis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299109 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Kiener et al. (2026) conducted whole genome sequencing of six affected dogs from four different families including parents of two affected animals: "Whole genome sequencing revealed four independent variants in the SUV39H1 gene [omia.variant:1904-1907] encoding an H3K9 methyltransferase, which is involved in epigenetic silencing of chromatin." Evidence (references) - 2026. Phloiokeratosis is a new ichthyosiform hyperkeratotic cornification disorder in dogs with SUV39H1 variants. Sci Rep — PubMed:PMID42350566 | DOI:10.1038/s41598-026-59288-y — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:300254 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [180]

Borzoi — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Borzoi (Dog) [68]

Borzoi — Dilated cardiomyopathy (hereditary; OMIA-verified breed predisposition)

Disorder: Dilated cardiomyopathy [181]

Summary: See also gene specific entries for dilated cardiomyopathy such as: '[OMIA:002365-9615] Cardiomyopathy, dilated, RBM20-related', [OMIA:002195-9615]Cardiomyopathy, dilated, PLN-related', [OMIA:002796-9615]: Cardiomyopathy, dilated, LMNA-related, and [OMIA:002710-9615]: Cardiomyopathy, dilated, ABCC9-related [181]

Clin feat: Clinical features of canine dilated cardiomyopathy (DCM) can have a sudden onset and often present secondary to diminished cardiac pumping function. This can manifest as decreased oxygenated blood delivery to the body (lethargy, weakness, exercise intolerance, collapse) or pulmonary blood congestion (coughing, tachypnoea, dyspnoea) (Tidholm and Jönsson, 1996). Radiographic evidence of ascites or pleural effusion, and pulmonary oedema, are also clinical features of DCM (Harmon et al., 2017). Echocardiography may reveal a systolic murmur and hypokinesis (Tidholm et al., 2001). [181]

Pathology: Gross post-mortem pathological findings of canine DCM indicate eccentric left ventricular hypertrophy (Tidholm and Jönsson, 2005; Harmon et al., 2017) and secondary left atrial dilation (Dukes-McEwan et al., 2003; Tildholm et al., 2001[Veterinary Journal]). Myocardial changes seen histologically include increased interstitial collagen deposition and macrophage infiltration, in addition to reduced contractile tissue and cardiomyocyte degeneration (Gasparini et al., 2020). [181]

Gen test: A DNA test for a linked marker of a juvenile form of this disorder (JDCM) in Portugese Water Dogs is no longer included in the OFA's list. This linked marker was presumably based on the CFA8 results of Werner et al. (2008). A DNA test for this disorder in Dobermans was also included in the OFA's list in the past. The basis for this test was the linked marker reported by Meurs et al. (2012). Given the results of Meurs et al. (2012), Owczarek-Lipska et al. (2013) and Niskanen et al. (2023), it is evident that any DNA test based on this marker will not be a good indicator of liability to this disorder in Dobermans. See gene specific entries mentioned in the 'Species-specific description' of this entry for additional information. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: DCM (no structured Phene_Gene link) Causal variant(s) - Variant: chromosome 10; nt change XM_038549826.1:c.261C>A; protein XP_038405754.1:p.(Y87*); pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1991. Myocardial L-Carnitine Deficiency in a Family of Dogs with Dilated Cardiomyopathy. Journal of the American Veterinary Medical Association — PubMed:PMID2019534 — OMIA Phene_Article / Article - 1992. Respiratory Chain Defect of Myocardial Mitochondria in Idiopathic Dilated Cardiomyopathy of Doberman-Pinscher Dogs. Canadian Journal of Physiology and Pharmacology — PubMed:PMID1338376 — OMIA Phene_Article / Article - 1994. Dynamic Cardiomyoplasty for Dilated Cardiomyopathy in Dogs. Seminars in Veterinary Medicine and Surgery - Small Animal — PubMed:PMID7839036 — OMIA Phene_Article / Article - 1995. Activation of the renin-angiotensin system in dogs with asymptomatic and symptomatic dilated cardiomyopathy. Research in Veterinary Science — PubMed:PMID8525110 — OMIA Phene_Article / Article - 1996. M-mode echocardiographic diagnosis of dilated cardiomyopathy in giant breed dogs. Zentralblatt Fur Veterinarmedizin - Reihe A — PubMed:PMID8779804 — OMIA Phene_Article / Article - 1996. Dilated cardiomyopathy in the Newfoundland - a study of 37 cases (1983-1994). J Am Anim Hosp Assoc — PubMed:PMID8906721 | DOI:10.5326/15473317-32-6-465 — OMIA Phene_Article / Article - 1996. Idiopathic dilated cardiomyopathy in Dalmatians - nine cases (1990-1995). Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1997. Deficiencies of myocardial troponin-t and creatine kinase mb isoenzyme in dogs with idiopathic dilated cardiomyopathy. American Journal of Veterinary Research — PubMed:PMID8989489 — OMIA Phene_Article / Article - 1997. Increased expression of promatrix METALLOPROTEINASE-9 and neutrophil elastase in canine dilated cardiomyopathy. Cardiovascular Research — PubMed:PMID9205552 — OMIA Phene_Article / Article - 1997. Survival and prognostic factors in 189 dogs with dilated cardiomyopathy. Journal of the American Animal Hospital Association — PubMed:PMID9204475 — OMIA Phene_Article / Article - 1996. Canine dilated cardiomyopathy - a study of 189 cases in 38 breeds. Veterinary Quarterly — OMIA Phene_Article / Article - 1997. Results of the multicenter spaniel trial (must) - taurine- and carnitine-responsive dilated cardiomyopathy in american cocker spaniels with decreased plasma taurine concentration. Journal of Veterinary Internal Medicine — PubMed:PMID9298474 — OMIA Phene_Article / Article - (134 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:107970 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:115200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611880 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:302060 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:302045 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600884 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601494 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [181]

Boston Terrier — Mucopolysaccharidosis I (hereditary; OMIA-verified breed predisposition)

Breed: Boston Terrier (Dog) [182]

Disorder: Mucopolysaccharidosis I [182]

Summary: The mucopolysaccharidoses (MPS) are a group of hereditary diseases characterized by defective metabolism of glycosaminoglycans (mucopolysaccharides), which accumulate in lysosomes in various tissues. [182]

Prevalence: Mansour et al. (2020): The likely insertion causal variant was not detected in 120 unrelated Boston Terriers as well as 202 dogs from other breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 4479646 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1989. Long-Term Effects of Bone Marrow Transplantation in Dogs with Mucopolysaccharidosis 1. American Journal of Pathology — PubMed:PMID2493739 — OMIA Phene_Article / Article - 1989. Corneal Opacity in Canine MPS-I - Changes After Bone Marrow Transplantation. Investigative Ophthalmology & Visual Science — PubMed:PMID2503461 — OMIA Phene_Article / Article - 1990. Cardiovascular Changes After Bone Marrow Transplantation in Dogs with Mucopolysaccharidosis-I. American Journal of Veterinary Research — PubMed:PMID2150744 — OMIA Phene_Article / Article - 1992. Cloning and Characterization of cDNA Encoding Canine alpha-L- Iduronidase - Messenger RNA Deficiency in Mucopolysaccharidosis-I Dog. J Biol Chem — PubMed:PMID1551868 — OMIA Phene_Article / Article - 1992. Architecture of the Canine IDUA Gene and Mutation Underlying Canine Mucopolysaccharidosis-I. Genomics — PubMed:PMID1339393 — OMIA Phene_Article / Article - 1994. Enzyme replacement in a canine model of Hurler syndrome. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID7809150 — OMIA Phene_Article / Article - 1996. Canine models for gene therapy. Transfusion Science — OMIA Phene_Article / Article - 1996. Humoral immune response limits gene therapy in canine MPS I. Blood — PubMed:PMID8704199 — OMIA Phene_Article / Article - 1996. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis. Biochemical & Molecular Medicine — OMIA Phene_Article / Article - 1996. Myoblast gene therapy in canine mucopolysaccharidosis i - abrogation by an immune response to alpha-l-iduronidase. Human Gene Therapy — PubMed:PMID8864760 | DOI:10.1089/hum.1996.7.13-1595 — OMIA Phene_Article / Article - 1998. Noncirrhotic portal hypertension and nodular regenerative hyperplasia of the liver in dogs with mucopolysaccharidosis type I. Hepatology — PubMed:PMID9696001 | DOI:10.1002/hep.510280214 — OMIA Phene_Article / Article - 1999. Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency. Blood — PubMed:PMID10068662 — OMIA Phene_Article / Article - (38 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:607014 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607015 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607016 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:252800 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [182]

Boston Terrier — Muscular dystrophy, limb-girdle, type R6 (LGMDR6) (hereditary; OMIA-verified breed predisposition)

Clin feat: Cox et al. (2017): marked muscle weakness and atrophy in the shoulder and hips during puppyhood Brunetti et al. (2023): An 8-month-old female Lagotto Romagnolo dog was presented with a 1-month history of an initial severe reluctance to move., the dog rapidly. [progressed] to a marked stiff gait. Dysphagia, dysphonia and polyuria and polydipsia appeared in the last five days prior to the examination.. The dog showed a progressive rapid worsening of the clinical signs leading in approximately one month to a severe non-ambulatory tetraparesis and severe dysphagia. [183]

Pathology: Brunetti et al. (2023) reported pathologal findings of a single affected Lagotto Romagnolo dog: Macroscopically, the muscles were moderately atrophic, except for the diaphragm and the neck muscles, which were markedly thickened. Histologically, all the skeletal muscles examined showed atrophy, hypertrophy, necrosis with calcification of the fibers, and mild fibrosis and inflammation. On immunohistochemistry, all three dystrophin domains and sarcoglycan proteins were absent. On Western blot analysis, no band was present for delta sarcoglycan. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388306478 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2004. Newly identified neuromuscular disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID15474686 | DOI:10.1016/j.cvsm.2004.06.001 — OMIA Phene_Article / Article - 2008. Sarcoglycan-deficient muscular dystrophy in a Boston Terrier. J Vet Intern Med — PubMed:PMID18371037 | DOI:10.1111/j.1939-1676.2008.0080.x — OMIA Phene_Article / Article - 2017. Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle — PubMed:PMID28702169 | DOI:10.1186/s13395-017-0131-0 — OMIA Phene_Article / Article - 2023. SGCD missense variant in a Lagotto Romagnolo dog with autosomal recessively inherited limb-girdle muscular dystrophy. Genes (Basel) — PubMed:PMID37628692 | DOI:10.3390/genes14081641 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601287 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601411 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [183]

Bouvier des Ardennes — Spinocerebellar ataxia with myokymia, seizures or both (SAMS); spongy degeneration with cerebellar ataxia 1 (SDCA1) (hereditary; OMIA-verified breed predisposition)

Breed: Bouvier des Ardennes (Dog) [163]

Boxer — Arrhythmogenic right ventricular cardiomyopathy (hereditary; OMIA-verified breed predisposition)

Breed: Boxer (Dog) [184]

Disorder: Arrhythmogenic right ventricular cardiomyopathy [184]

Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by monomorphic ventricular arrhythmias, syncope, and sudden cardiac death in Boxer dogs. Because the presenting sign can be sudden death, many dogs die without a diagnosis. Pathologic changes in the heart include dilation of the right ventricle and replacement of myocardial tissue with fibrous and fatty infiltrates. The mode of inheritance appears to be autosomal dominant with incomplete penetrance. A causative mutation has been identified in STRN. Edited by Meg Sleeper, VMD and Vicki N. Meyers-llen, VMD, PhD, Dipl. ACT Holdt et al. (2022) describe occurrence of arrhythmogenic right ventricular cardiomyopathy in Bulldogs. Genetic testing of five cases revealed that the representative Bulldogs from this study did not have the striatin mutation that has been previously documented in Boxers. [184]

Clin feat: Signs include monomorphic ventricular arrhythmias, syncope, and sudden cardiac death. Magnetic resonance imaging (MRI) demonstrates right ventricular dilation and aneurysms, reduced right ventricular ejection fraction, and bright anterolateral and/or infundibular ventricular signals corresponding with an infiltration of fatty tissue (Meurs et al, 2010). Dogs homozygous for the STRN mutation had, on average, more ventricular premature contractions (VPCs) than heterozygous dogs (Meurs et al., 2010). Although STRN is also highly expressed in neural tissue, affected dogs have no apparent neurologic deficits (Meurs et al., 2010). [184]

Pathology: Frequent left bundle branch block morphology ventricular premature complexes cause the clinical signs (Meurs et al., 2010). The disorder causes a gradual and progressive right (and sometimes left) ventricular loss of muscle which is replaced with fat and fibrous tissue. Lesions include a thin right ventricular free wall, aneurysms, and myocyte loss starting at the epicardium (Basso et al., 2004). [184]

Prevalence: Prevalence is thought to be very high in the USA, and it may also be prevalent in the Netherlands. True prevalence is unknown because many dogs likely die without a diagnosis. [184]

Control: Breeding of affected dogs is not recommended. [184]

Gen test: In assessing the results of Cattanach et al. (2015), Sargan (2015) discussed the pitfalls of basing a DNA test on a mutation that has been thought to be the cause of a monogenic disease and has been treated as such in two commercial genetic testing laboratories [but which] is in fact not causal, but simply linked to the disease. DNA testing laboratories should heed this advice. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: ARVC (no structured Phene_Gene link) Evidence (references) - 1994. Right Ventricular Cardiomyopathy in a Dog. Journal of Veterinary Internal Medicine — PubMed:PMID7983631 — OMIA Phene_Article / Article - 1995. Isolated right ventricular cardiomyopathy in a dog. Journal of the American Veterinary Medical Association — PubMed:PMID7601695 — OMIA Phene_Article / Article - 1999. Familial ventricular arrhythmias in boxers. Journal of Veterinary Internal Medicine — PubMed:PMID10499727 — OMIA Phene_Article / Article - 2004. Arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death in boxer dogs: a new animal model of human disease. Circulation — PubMed:PMID14993138 | DOI:10.1161/01.CIR.0000118494.07530.65 — OMIA Phene_Article / Article - 2007. Desmosomal gene evaluation in Boxers with arrhythmogenic right ventricular cardiomyopathy. Am J Vet Res — PubMed:PMID18052738 | DOI:10.2460/ajvr.68.12.1338 — OMIA Phene_Article / Article - 2008. Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs is associated with calstabin2 deficiency. J Vet Cardiol — PubMed:PMID18515204 | DOI:10.1016/j.jvc.2008.04.003 — OMIA Phene_Article / Article - 2009. Temporal variability of ventricular arrhythmias in Boxer dogs with arrhythmogenic right ventricular cardiomyopathy. J Vet Intern Med — PubMed:PMID19678888 | DOI:10.1111/j.1939-1676.2009.0366.x — OMIA Phene_Article / Article - 2010. Genome-wide association identifies a deletion in the 3' untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy. Hum Genet — PubMed:PMID20596727 | DOI:10.1007/s00439-010-0855-y — OMIA Phene_Article / Article - 2008. Magnetic resonance imaging of right ventricular morphology and function in boxer dogs with arrhythmogenic right ventricular cardiomyopathy. J Vet Intern Med — PubMed:PMID19192154 | DOI:10.1111/j.1939-1676.2008.0266.x — OMIA Phene_Article / Article - 2010. ECG of the month. Arrhythmogenic right ventricular cardiomyopathy in a Boxer. J Am Vet Med Assoc — PubMed:PMID20433394 | DOI:10.2460/javma.236.9.961 — OMIA Phene_Article / Article - 2006. The use of an implantable cardioverter defibrillator in a Boxer Dog to control clinical signs of arrhythmogenic right ventricular cardiomyopathy. J Vet Intern Med — PubMed:PMID17063723 — OMIA Phene_Article / Article - 1991. Boxer cardiomyopathy. A review of the long-term benefits of antiarrhythmic therapy. Vet Clin North Am Small Anim Pract — PubMed:PMID1949503 | DOI:10.1016/s0195-5616(91)50107-8 — OMIA Phene_Article / Article - (18 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:107970 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [184]

Boxer — Canine atopic dermatitis (CAD) (hereditary; OMIA-verified breed predisposition)

Disorder: Canine atopic dermatitis (CAD) [185]

Clin feat: Clinical and other issues relating to this disorder were comprehensively covered in an extensive series of papers published in Veterinary Immunology and Immunopathology in 2001 (all included in the references below) by the ACVD task force on canine atopic dermatitis. [185]

Prevalence: From an anlysis of Case records (n = 23,000) from [the] University [of Sydney] Veterinary Teaching Hospital (UVTH) dogs, including 722 with CAD compared with 13 previous studies, Mazrier et al. (2016) reported that Eleven dog breeds with significant increased OR (≥1.0) were identified; all with breed CAD cases proportionally higher than their base hospital population. Gender risk in males from the pug dog breed (P = 0.007) was detected and the bichon frise breed had a similar trend (P = 0.05). Sixteen predisposed dog breeds were identified by systematic review. All breeds with significant increased OR in UVTH had ADRPR > 1.4; five (boxer, bulldog, Labrador retriever, pug, West Highland white terrier) were recognized as predisposed worldwide. One clade of breeds with common ancestry was highly represented in CAD cases worldwide and in Australia (81% of the significant OR cases). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1994. 207 Intracutaneous Tests in Dogs with Suspicion of Atopic Dermatitis. Kleintierpraxis — OMIA Phene_Article / Article - 1996. Langerhans cell hyperplasia and ige expression in canine atopic dermatitis. Archives of Dermatological Research — PubMed:PMID8919040 — OMIA Phene_Article / Article - 1997. Characterization of the cutaneous inflammatory infiltrate in canine atopic dermatitis. American Journal of Dermatopathology — PubMed:PMID9335242 — OMIA Phene_Article / Article - 1997. Serum and skin IgA concentrations in normal and atopic dogs. Aust Vet J — PubMed:PMID9469228 | DOI:10.1111/j.1751-0813.1997.tb11264.x — OMIA Phene_Article / Article - 1998. Canine atopic dermatitis - pathomechanisms and comparison of ict and elisa with monoclonal anti-ige-antibody [German]. Praktische Tierarzt — OMIA Phene_Article / Article - 1998. Reevaluation of diagnostic criteria of canine atopic dermatitis [French]. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1999. Serum immunoglobulin E concentrations in West Highland White Terrier puppies do not predict development of atopic dermatitis. Veterinary Dermatology — OMIA Phene_Article / Article - 1999. Comparison of intradermal testing and serum testing for allergen-specific IgE using monoclonal IgE antibodies in 84 atopic dogs. Aust Vet J — PubMed:PMID10376096 | DOI:10.1111/j.1751-0813.1999.tb10263.x — OMIA Phene_Article / Article - 2000. Adherence by Staphylococcus intermedius to canine keratinocytes in atopic dermatitis. Research in Veterinary Science — PubMed:PMID10877976 | DOI:10.1053/rvsc.2000.0378 — OMIA Phene_Article / Article - 2000. IgE-reactivity to major Japanese cedar (Cryptomeria japonica) pollen allergens (Cry j 1 and Cry j 2) by ELISA in dogs with atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - 2000. Aero-allergens in canine atopic dermatitis in southeastern Australia based on 1000 intradermal skin tests. Australian Veterinary Journal — PubMed:PMID10920777 — OMIA Phene_Article / Article - 2001. Peripheral blood mononuclear cell responses to Dermatophagogoides farinae in canine atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - (204 additional references in OMIA) - 1994. 207 Intracutaneous Tests in Dogs with Suspicion of Atopic Dermatitis. Kleintierpraxis — OMIA Phene_Article / Article - 1996. Langerhans cell hyperplasia and ige expression in canine atopic dermatitis. Archives of Dermatological Research — PubMed:PMID8919040 — OMIA Phene_Article / Article - 1997. Characterization of the cutaneous inflammatory infiltrate in canine atopic dermatitis. American Journal of Dermatopathology — PubMed:PMID9335242 — OMIA Phene_Article / Article - 1997. Serum and skin IgA concentrations in normal and atopic dogs. Aust Vet J — PubMed:PMID9469228 | DOI:10.1111/j.1751-0813.1997.tb11264.x — OMIA Phene_Article / Article - 1998. Canine atopic dermatitis - pathomechanisms and comparison of ict and elisa with monoclonal anti-ige-antibody [German]. Praktische Tierarzt — OMIA Phene_Article / Article - 1998. Reevaluation of diagnostic criteria of canine atopic dermatitis [French]. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1999. Serum immunoglobulin E concentrations in West Highland White Terrier puppies do not predict development of atopic dermatitis. Veterinary Dermatology — OMIA Phene_Article / Article - 1999. Comparison of intradermal testing and serum testing for allergen-specific IgE using monoclonal IgE antibodies in 84 atopic dogs. Aust Vet J — PubMed:PMID10376096 | DOI:10.1111/j.1751-0813.1999.tb10263.x — OMIA Phene_Article / Article - 2000. Adherence by Staphylococcus intermedius to canine keratinocytes in atopic dermatitis. Research in Veterinary Science — PubMed:PMID10877976 | DOI:10.1053/rvsc.2000.0378 — OMIA Phene_Article / Article - 2000. IgE-reactivity to major Japanese cedar (Cryptomeria japonica) pollen allergens (Cry j 1 and Cry j 2) by ELISA in dogs with atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - 2000. Aero-allergens in canine atopic dermatitis in southeastern Australia based on 1000 intradermal skin tests. Australian Veterinary Journal — PubMed:PMID10920777 — OMIA Phene_Article / Article - 2001. Peripheral blood mononuclear cell responses to Dermatophagogoides farinae in canine atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - (204 additional references in OMIA) - 1994. 207 Intracutaneous Tests in Dogs with Suspicion of Atopic Dermatitis. Kleintierpraxis — OMIA Phene_Article / Article - 1996. Langerhans cell hyperplasia and ige expression in canine atopic dermatitis. Archives of Dermatological Research — PubMed:PMID8919040 — OMIA Phene_Article / Article - 1997. Characterization of the cutaneous inflammatory infiltrate in canine atopic dermatitis. American Journal of Dermatopathology — PubMed:PMID9335242 — OMIA Phene_Article / Article - 1997. Serum and skin IgA concentrations in normal and atopic dogs. Aust Vet J — PubMed:PMID9469228 | DOI:10.1111/j.1751-0813.1997.tb11264.x — OMIA Phene_Article / Article - 1998. Canine atopic dermatitis - pathomechanisms and comparison of ict and elisa with monoclonal anti-ige-antibody [German]. Praktische Tierarzt — OMIA Phene_Article / Article - 1998. Reevaluation of diagnostic criteria of canine atopic dermatitis [French]. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1999. Serum immunoglobulin E concentrations in West Highland White Terrier puppies do not predict development of atopic dermatitis. Veterinary Dermatology — OMIA Phene_Article / Article - 1999. Comparison of intradermal testing and serum testing for allergen-specific IgE using monoclonal IgE antibodies in 84 atopic dogs. Aust Vet J — PubMed:PMID10376096 | DOI:10.1111/j.1751-0813.1999.tb10263.x — OMIA Phene_Article / Article - 2000. Adherence by Staphylococcus intermedius to canine keratinocytes in atopic dermatitis. Research in Veterinary Science — PubMed:PMID10877976 | DOI:10.1053/rvsc.2000.0378 — OMIA Phene_Article / Article - 2000. IgE-reactivity to major Japanese cedar (Cryptomeria japonica) pollen allergens (Cry j 1 and Cry j 2) by ELISA in dogs with atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - 2000. Aero-allergens in canine atopic dermatitis in southeastern Australia based on 1000 intradermal skin tests. Australian Veterinary Journal — PubMed:PMID10920777 — OMIA Phene_Article / Article - 2001. Peripheral blood mononuclear cell responses to Dermatophagogoides farinae in canine atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - (204 additional references in OMIA) - 1994. 207 Intracutaneous Tests in Dogs with Suspicion of Atopic Dermatitis. Kleintierpraxis — OMIA Phene_Article / Article - 1996. Langerhans cell hyperplasia and ige expression in canine atopic dermatitis. Archives of Dermatological Research — PubMed:PMID8919040 — OMIA Phene_Article / Article - 1997. Characterization of the cutaneous inflammatory infiltrate in canine atopic dermatitis. American Journal of Dermatopathology — PubMed:PMID9335242 — OMIA Phene_Article / Article - 1997. Serum and skin IgA concentrations in normal and atopic dogs. Aust Vet J — PubMed:PMID9469228 | DOI:10.1111/j.1751-0813.1997.tb11264.x — OMIA Phene_Article / Article - 1998. Canine atopic dermatitis - pathomechanisms and comparison of ict and elisa with monoclonal anti-ige-antibody [German]. Praktische Tierarzt — OMIA Phene_Article / Article - 1998. Reevaluation of diagnostic criteria of canine atopic dermatitis [French]. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1999. Serum immunoglobulin E concentrations in West Highland White Terrier puppies do not predict development of atopic dermatitis. Veterinary Dermatology — OMIA Phene_Article / Article - 1999. Comparison of intradermal testing and serum testing for allergen-specific IgE using monoclonal IgE antibodies in 84 atopic dogs. Aust Vet J — PubMed:PMID10376096 | DOI:10.1111/j.1751-0813.1999.tb10263.x — OMIA Phene_Article / Article - 2000. Adherence by Staphylococcus intermedius to canine keratinocytes in atopic dermatitis. Research in Veterinary Science — PubMed:PMID10877976 | DOI:10.1053/rvsc.2000.0378 — OMIA Phene_Article / Article - 2000. IgE-reactivity to major Japanese cedar (Cryptomeria japonica) pollen allergens (Cry j 1 and Cry j 2) by ELISA in dogs with atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - 2000. Aero-allergens in canine atopic dermatitis in southeastern Australia based on 1000 intradermal skin tests. Australian Veterinary Journal — PubMed:PMID10920777 — OMIA Phene_Article / Article - 2001. Peripheral blood mononuclear cell responses to Dermatophagogoides farinae in canine atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - (204 additional references in OMIA) - 1994. 207 Intracutaneous Tests in Dogs with Suspicion of Atopic Dermatitis. Kleintierpraxis — OMIA Phene_Article / Article - 1996. Langerhans cell hyperplasia and ige expression in canine atopic dermatitis. Archives of Dermatological Research — PubMed:PMID8919040 — OMIA Phene_Article / Article - 1997. Characterization of the cutaneous inflammatory infiltrate in canine atopic dermatitis. American Journal of Dermatopathology — PubMed:PMID9335242 — OMIA Phene_Article / Article - 1997. Serum and skin IgA concentrations in normal and atopic dogs. Aust Vet J — PubMed:PMID9469228 | DOI:10.1111/j.1751-0813.1997.tb11264.x — OMIA Phene_Article / Article - 1998. Canine atopic dermatitis - pathomechanisms and comparison of ict and elisa with monoclonal anti-ige-antibody [German]. Praktische Tierarzt — OMIA Phene_Article / Article - 1998. Reevaluation of diagnostic criteria of canine atopic dermatitis [French]. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1999. Serum immunoglobulin E concentrations in West Highland White Terrier puppies do not predict development of atopic dermatitis. Veterinary Dermatology — OMIA Phene_Article / Article - 1999. Comparison of intradermal testing and serum testing for allergen-specific IgE using monoclonal IgE antibodies in 84 atopic dogs. Aust Vet J — PubMed:PMID10376096 | DOI:10.1111/j.1751-0813.1999.tb10263.x — OMIA Phene_Article / Article - 2000. Adherence by Staphylococcus intermedius to canine keratinocytes in atopic dermatitis. Research in Veterinary Science — PubMed:PMID10877976 | DOI:10.1053/rvsc.2000.0378 — OMIA Phene_Article / Article - 2000. IgE-reactivity to major Japanese cedar (Cryptomeria japonica) pollen allergens (Cry j 1 and Cry j 2) by ELISA in dogs with atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - 2000. Aero-allergens in canine atopic dermatitis in southeastern Australia based on 1000 intradermal skin tests. Australian Veterinary Journal — PubMed:PMID10920777 — OMIA Phene_Article / Article - 2001. Peripheral blood mononuclear cell responses to Dermatophagogoides farinae in canine atopic dermatitis. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - (204 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:603165 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605803 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605804 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605805 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605844 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605845 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613064 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613518 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613519 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603165 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605803 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605804 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605805 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605844 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605845 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613064 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613518 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613519 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603165 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605803 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605804 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605805 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605844 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605845 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613064 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613518 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613519 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603165 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605803 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605804 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605805 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605844 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605845 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613064 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613518 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613519 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603165 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605803 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605804 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605805 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605844 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605845 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613064 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613518 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613519 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [185]

Boxer — Cleft lip and palate (hereditary; OMIA-verified breed predisposition)

Clin feat: A cleft lip is a type of orofacial cleft that can manifest as a facial deformity due to incomplete fusion of the lip, incisive bone and/or the alveolar process (Pankowski et al., 2018) Cleft palates are orofacial clefts that involve a midline defect of the hard and/or soft palate, resulting in a hole between the oral and nasal cavity (Pankowski et al., 2018). These clefts occur during embryonic development as a result of incomplete fusion of oral or facial tissues (Roman et al., 2019). Cleft lips and palates are generally recognised in neonatal puppies via visual examination or observation of sneezing, coughing, gagging or drainage of milk from the nostrils during feeding (Roman et al., 2019). Cleft palates generally have far more clinical significance than cleft lips. While most cleft lips only present cosmetic issues, large cleft lips and cleft palates present severe feeding issues in puppies and can lead to failure to grow, chronic sinus infections and aspiration pneumonia (Roman et al., 2019). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1972. Cleft lip and palate in dogs (Boxer breed): a preliminary report. Carnivore Genetics Newsletter — OMIA Phene_Article / Article - 2012. Nonsyndromic cleft lip and palate in boxer dogs: evidence of monogenic autosomal recessive inheritance.. Cleft Palate Craniofac J — PubMed:PMID21806339 | DOI:10.1597/11-110 — OMIA Phene_Article / Article - 2009. Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs.. Cleft Palate Craniofac J — PubMed:PMID19115787 | DOI:10.1597/06-229.1 — OMIA Phene_Article / Article - 1965. A genetic study of cleft lip and palate in dogs.. Surg Forum — PubMed:PMID5835234 — OMIA Phene_Article / Article - 1971. Observations on the pathology in a colony of cleft palate and cleft lip dogs.. Cleft Palate J — PubMed:PMID5278761 — OMIA Phene_Article / Article - 1968. Cleft lip and palate in dogs: a progress report.. Cleft Palate J — PubMed:PMID4383842 — OMIA Phene_Article / Article - 1964. Cleft lip and palate in dogs.. Surg Forum — PubMed:PMID14193444 — OMIA Phene_Article / Article - 1961. The comparative anatomy of cleft lip and palate. I. Classification of cleft lip and palate in dogs.. Br J Plast Surg — PubMed:PMID13875838 | DOI:10.1016/s0007-1226(61)80033-7 — OMIA Phene_Article / Article - 1958. Cleft lip and palate in the dog.. J Am Vet Med Assoc — PubMed:PMID13587379 — OMIA Phene_Article / Article - 2017. Morphological evaluation of clefts of the lip, palate, or both in dogs.. Am J Vet Res — PubMed:PMID28738009 | DOI:10.2460/ajvr.78.8.926 — OMIA Phene_Article / Article - 2019. Incidence patterns of orofacial clefts in purebred dogs.. PLoS One — PubMed:PMID31682628 | DOI:10.1371/journal.pone.0224574 — OMIA Phene_Article / Article - 2022. Management of dental and oral developmental conditions in dogs and cats.. Vet Clin North Am Small Anim Pract — PubMed:PMID34838248 | DOI:10.1016/j.cvsm.2021.09.002 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1972. Cleft lip and palate in dogs (Boxer breed): a preliminary report. Carnivore Genetics Newsletter — OMIA Phene_Article / Article - 2012. Nonsyndromic cleft lip and palate in boxer dogs: evidence of monogenic autosomal recessive inheritance. Cleft Palate Craniofac J — PubMed:PMID21806339 | DOI:10.1597/11-110 — OMIA Phene_Article / Article - 2009. Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs. Cleft Palate Craniofac J — PubMed:PMID19115787 | DOI:10.1597/06-229.1 — OMIA Phene_Article / Article - 1965. A genetic study of cleft lip and palate in dogs. Surg Forum — PubMed:PMID5835234 — OMIA Phene_Article / Article - 1971. Observations on the pathology in a colony of cleft palate and cleft lip dogs. Cleft Palate J — PubMed:PMID5278761 — OMIA Phene_Article / Article - 1968. Cleft lip and palate in dogs: a progress report. Cleft Palate J — PubMed:PMID4383842 — OMIA Phene_Article / Article - 1964. Cleft lip and palate in dogs. Surg Forum — PubMed:PMID14193444 — OMIA Phene_Article / Article - 1961. The comparative anatomy of cleft lip and palate. I. Classification of cleft lip and palate in dogs. Br J Plast Surg — PubMed:PMID13875838 | DOI:10.1016/s0007-1226(61)80033-7 — OMIA Phene_Article / Article - 1958. Cleft lip and palate in the dog. J Am Vet Med Assoc — PubMed:PMID13587379 — OMIA Phene_Article / Article - 2017. Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res — PubMed:PMID28738009 | DOI:10.2460/ajvr.78.8.926 — OMIA Phene_Article / Article - 2019. Incidence patterns of orofacial clefts in purebred dogs. PLoS One — PubMed:PMID31682628 | DOI:10.1371/journal.pone.0224574 — OMIA Phene_Article / Article - 2022. Management of dental and oral developmental conditions in dogs and cats. Vet Clin North Am Small Anim Pract — PubMed:PMID34838248 | DOI:10.1016/j.cvsm.2021.09.002 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1972. Cleft lip and palate in dogs (Boxer breed): a preliminary report. Carnivore Genetics Newsletter — OMIA Phene_Article / Article - 2012. Nonsyndromic cleft lip and palate in boxer dogs: evidence of monogenic autosomal recessive inheritance. Cleft Palate Craniofac J — PubMed:PMID21806339 | DOI:10.1597/11-110 — OMIA Phene_Article / Article - 2009. Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs. Cleft Palate Craniofac J — PubMed:PMID19115787 | DOI:10.1597/06-229.1 — OMIA Phene_Article / Article - 1965. A genetic study of cleft lip and palate in dogs. Surg Forum — PubMed:PMID5835234 — OMIA Phene_Article / Article - 1971. Observations on the pathology in a colony of cleft palate and cleft lip dogs. Cleft Palate J — PubMed:PMID5278761 — OMIA Phene_Article / Article - 1968. Cleft lip and palate in dogs: a progress report. Cleft Palate J — PubMed:PMID4383842 — OMIA Phene_Article / Article - 1964. Cleft lip and palate in dogs. Surg Forum — PubMed:PMID14193444 — OMIA Phene_Article / Article - 1961. The comparative anatomy of cleft lip and palate. I. Classification of cleft lip and palate in dogs. Br J Plast Surg — PubMed:PMID13875838 | DOI:10.1016/s0007-1226(61)80033-7 — OMIA Phene_Article / Article - 1958. Cleft lip and palate in the dog. J Am Vet Med Assoc — PubMed:PMID13587379 — OMIA Phene_Article / Article - 2017. Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res — PubMed:PMID28738009 | DOI:10.2460/ajvr.78.8.926 — OMIA Phene_Article / Article - 2019. Incidence patterns of orofacial clefts in purebred dogs. PLoS One — PubMed:PMID31682628 | DOI:10.1371/journal.pone.0224574 — OMIA Phene_Article / Article - 2022. Management of dental and oral developmental conditions in dogs and cats. Vet Clin North Am Small Anim Pract — PubMed:PMID34838248 | DOI:10.1016/j.cvsm.2021.09.002 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1972. Cleft lip and palate in dogs (Boxer breed): a preliminary report. Carnivore Genetics Newsletter — OMIA Phene_Article / Article - 2012. Nonsyndromic cleft lip and palate in boxer dogs: evidence of monogenic autosomal recessive inheritance. Cleft Palate Craniofac J — PubMed:PMID21806339 | DOI:10.1597/11-110 — OMIA Phene_Article / Article - 2009. Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs. Cleft Palate Craniofac J — PubMed:PMID19115787 | DOI:10.1597/06-229.1 — OMIA Phene_Article / Article - 1965. A genetic study of cleft lip and palate in dogs. Surg Forum — PubMed:PMID5835234 — OMIA Phene_Article / Article - 1971. Observations on the pathology in a colony of cleft palate and cleft lip dogs. Cleft Palate J — PubMed:PMID5278761 — OMIA Phene_Article / Article - 1968. Cleft lip and palate in dogs: a progress report. Cleft Palate J — PubMed:PMID4383842 — OMIA Phene_Article / Article - 1964. Cleft lip and palate in dogs. Surg Forum — PubMed:PMID14193444 — OMIA Phene_Article / Article - 1961. The comparative anatomy of cleft lip and palate. I. Classification of cleft lip and palate in dogs. Br J Plast Surg — PubMed:PMID13875838 | DOI:10.1016/s0007-1226(61)80033-7 — OMIA Phene_Article / Article - 1958. Cleft lip and palate in the dog. J Am Vet Med Assoc — PubMed:PMID13587379 — OMIA Phene_Article / Article - 2017. Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res — PubMed:PMID28738009 | DOI:10.2460/ajvr.78.8.926 — OMIA Phene_Article / Article - 2019. Incidence patterns of orofacial clefts in purebred dogs. PLoS One — PubMed:PMID31682628 | DOI:10.1371/journal.pone.0224574 — OMIA Phene_Article / Article - 2022. Management of dental and oral developmental conditions in dogs and cats. Vet Clin North Am Small Anim Pract — PubMed:PMID34838248 | DOI:10.1016/j.cvsm.2021.09.002 — OMIA Phene_Article / Article - (6 additional references in OMIA) - 1972. Cleft lip and palate in dogs (Boxer breed): a preliminary report. Carnivore Genetics Newsletter — OMIA Phene_Article / Article - 2012. Nonsyndromic cleft lip and palate in boxer dogs: evidence of monogenic autosomal recessive inheritance. Cleft Palate Craniofac J — PubMed:PMID21806339 | DOI:10.1597/11-110 — OMIA Phene_Article / Article - 2009. Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs. Cleft Palate Craniofac J — PubMed:PMID19115787 | DOI:10.1597/06-229.1 — OMIA Phene_Article / Article - 1965. A genetic study of cleft lip and palate in dogs. Surg Forum — PubMed:PMID5835234 — OMIA Phene_Article / Article - 1971. Observations on the pathology in a colony of cleft palate and cleft lip dogs. Cleft Palate J — PubMed:PMID5278761 — OMIA Phene_Article / Article - 1968. Cleft lip and palate in dogs: a progress report. Cleft Palate J — PubMed:PMID4383842 — OMIA Phene_Article / Article - 1964. Cleft lip and palate in dogs. Surg Forum — PubMed:PMID14193444 — OMIA Phene_Article / Article - 1961. The comparative anatomy of cleft lip and palate. I. Classification of cleft lip and palate in dogs. Br J Plast Surg — PubMed:PMID13875838 | DOI:10.1016/s0007-1226(61)80033-7 — OMIA Phene_Article / Article - 1958. Cleft lip and palate in the dog. J Am Vet Med Assoc — PubMed:PMID13587379 — OMIA Phene_Article / Article - 2017. Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res — PubMed:PMID28738009 | DOI:10.2460/ajvr.78.8.926 — OMIA Phene_Article / Article - 2019. Incidence patterns of orofacial clefts in purebred dogs. PLoS One — PubMed:PMID31682628 | DOI:10.1371/journal.pone.0224574 — OMIA Phene_Article / Article - 2022. Management of dental and oral developmental conditions in dogs and cats. Vet Clin North Am Small Anim Pract — PubMed:PMID34838248 | DOI:10.1016/j.cvsm.2021.09.002 — OMIA Phene_Article / Article - (6 additional references in OMIA) [186]

Boxer — Spondylosis deformans (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: This is a multifactorial disorder. Using radiographic data from 353 offspring of 24 sires in the Boxer breed, Langeland and Lingaas (1995) estimated heritability from half-sib correlation and from offspring-parent regression. For maximum degree of osteophyte development, the estimates were 0.42 and 0.62, respectively. For the number of affected discs, the estimates were 0.47 and 0.13, respectively. The same authors also observed a positive phenotypic correlation between spondylosis deformans and hip dysplasia. [187]

Summary: This is a multifactorial disorder assessed via a radiograph. It appears to be positively correlated to hip dysplasia. [187]

Control: The intermediate values of heritability indicate that selection against the disorder will be successful in reducing the incidence and severity of the disorder, as judged from radiographs. We cannot be certain that this would be translated into reduced incidence of the clinical signs, but it is likely that this would happen. If the positive phenotypic correlation between this disorder and hip dysplasia (also assessed via a radiograph) is a reflection of a positive genetic correlation, then selection against this disorder will automatically select against hip dysplasia as well, which is good news. However, breeders must realise that in each case, they are selecting on the basis of a radiograph, rather than on clinical signs, and that the genetic parameters (heritabilities, correlations) have been obtained from radiographic data, rather than from clinical signs. Unfortunately, there are still no estimates available of genetic parameters for either spondylosis deformans or hip dysplasia. It must be a fairly safe bet, however, that they would not be too different from those that have been obtained from radiographic data. In the immediate future, we have no option but to make this assumption, and then act on it. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1956. Canine and feline spinal osteoarthritis (spondylitis deformans). Journal of the American Veterinary Medical Association — PubMed:PMID13331829 — OMIA Phene_Article / Article - 1995. Spondylosis deformans in the Boxer: Estimates of heritability.. J Small Anim Pract — PubMed:PMID7603058 | DOI:10.1111/j.1748-5827.1995.tb02872.x — OMIA Phene_Article / Article - 2004. Prevalence of spondylosis deformans and estimates of genetic parameters for the degree of osteophytes development in Italian Boxer dogs.. J Anim Sci — PubMed:PMID14753351 — OMIA Phene_Article / Article - 2019. Spondylosis deformans as an indicator of transport activities in archaeological dogs: A systematic evaluation of current methods for assessing archaeological specimens.. PLoS One — PubMed:PMID30995245 | DOI:10.1371/journal.pone.0214575 — OMIA Phene_Article / Article - 2026. Thoracic spondylosis deformans in search-and-rescue dogs.. Am J Vet Res — PubMed:PMID41771257 | DOI:10.2460/ajvr.25.08.0309 — OMIA Phene_Article / Article - 1956. Canine and feline spinal osteoarthritis (spondylitis deformans). Journal of the American Veterinary Medical Association — PubMed:PMID13331829 — OMIA Phene_Article / Article - 1995. Spondylosis deformans in the Boxer: Estimates of heritability. J Small Anim Pract — PubMed:PMID7603058 | DOI:10.1111/j.1748-5827.1995.tb02872.x — OMIA Phene_Article / Article - 2004. Prevalence of spondylosis deformans and estimates of genetic parameters for the degree of osteophytes development in Italian Boxer dogs. J Anim Sci — PubMed:PMID14753351 — OMIA Phene_Article / Article - 2019. Spondylosis deformans as an indicator of transport activities in archaeological dogs: A systematic evaluation of current methods for assessing archaeological specimens. PLoS One — PubMed:PMID30995245 | DOI:10.1371/journal.pone.0214575 — OMIA Phene_Article / Article - 2026. Thoracic spondylosis deformans in search-and-rescue dogs. Am J Vet Res — PubMed:PMID41771257 | DOI:10.2460/ajvr.25.08.0309 — OMIA Phene_Article / Article - 1956. Canine and feline spinal osteoarthritis (spondylitis deformans). Journal of the American Veterinary Medical Association — PubMed:PMID13331829 — OMIA Phene_Article / Article - 1995. Spondylosis deformans in the Boxer: Estimates of heritability. J Small Anim Pract — PubMed:PMID7603058 | DOI:10.1111/j.1748-5827.1995.tb02872.x — OMIA Phene_Article / Article - 2004. Prevalence of spondylosis deformans and estimates of genetic parameters for the degree of osteophytes development in Italian Boxer dogs. J Anim Sci — PubMed:PMID14753351 — OMIA Phene_Article / Article - 2019. Spondylosis deformans as an indicator of transport activities in archaeological dogs: A systematic evaluation of current methods for assessing archaeological specimens. PLoS One — PubMed:PMID30995245 | DOI:10.1371/journal.pone.0214575 — OMIA Phene_Article / Article - 2026. Thoracic spondylosis deformans in search-and-rescue dogs. Am J Vet Res — PubMed:PMID41771257 | DOI:10.2460/ajvr.25.08.0309 — OMIA Phene_Article / Article - 1956. Canine and feline spinal osteoarthritis (spondylitis deformans). Journal of the American Veterinary Medical Association — PubMed:PMID13331829 — OMIA Phene_Article / Article - 1995. Spondylosis deformans in the Boxer: Estimates of heritability. J Small Anim Pract — PubMed:PMID7603058 | DOI:10.1111/j.1748-5827.1995.tb02872.x — OMIA Phene_Article / Article - 2004. Prevalence of spondylosis deformans and estimates of genetic parameters for the degree of osteophytes development in Italian Boxer dogs. J Anim Sci — PubMed:PMID14753351 — OMIA Phene_Article / Article - 2019. Spondylosis deformans as an indicator of transport activities in archaeological dogs: A systematic evaluation of current methods for assessing archaeological specimens. PLoS One — PubMed:PMID30995245 | DOI:10.1371/journal.pone.0214575 — OMIA Phene_Article / Article - 2026. Thoracic spondylosis deformans in search-and-rescue dogs. Am J Vet Res — PubMed:PMID41771257 | DOI:10.2460/ajvr.25.08.0309 — OMIA Phene_Article / Article - 1956. Canine and feline spinal osteoarthritis (spondylitis deformans). Journal of the American Veterinary Medical Association — PubMed:PMID13331829 — OMIA Phene_Article / Article - 1995. Spondylosis deformans in the Boxer: Estimates of heritability. J Small Anim Pract — PubMed:PMID7603058 | DOI:10.1111/j.1748-5827.1995.tb02872.x — OMIA Phene_Article / Article - 2004. Prevalence of spondylosis deformans and estimates of genetic parameters for the degree of osteophytes development in Italian Boxer dogs. J Anim Sci — PubMed:PMID14753351 — OMIA Phene_Article / Article - 2019. Spondylosis deformans as an indicator of transport activities in archaeological dogs: A systematic evaluation of current methods for assessing archaeological specimens. PLoS One — PubMed:PMID30995245 | DOI:10.1371/journal.pone.0214575 — OMIA Phene_Article / Article - 2026. Thoracic spondylosis deformans in search-and-rescue dogs. Am J Vet Res — PubMed:PMID41771257 | DOI:10.2460/ajvr.25.08.0309 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:184300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:184300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:184300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:184300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:184300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [187]

Boxer — Ventricular arrhythmias and sudden death (hereditary; OMIA-verified breed predisposition)

Prevalence: Meurs et al. (2019): the variant was significantly associated with the arrhythmia in the Rhodesian Ridgeback family (p = 0.001) and was identified as homozygous in the affected offspring and heterozygous in both of the parents. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388245149 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Meurs et al. (2019): "A single missense G/A variant in the QIL1 [also called MICOS13, C20H19ORF70] gene was associated with the cardiac arrhythmia (p < 0.0001). The variant was predicted to change the amino acid from conserved Glycine to Serine and to be deleterious." Evidence (references) - 1994. Inherited ventricular arrhythmias and sudden death in German Shepherd dogs. Journal of the American College of Cardiology — PubMed:PMID8006271 — OMIA Phene_Article / Article - 1996. Phenylephrine-induced ventricular arrhythmias in dogs with inherited sudden death. Journal of Cardiovascular Electrophysiology — PubMed:PMID8867296 — OMIA Phene_Article / Article - 1996. Triggered activity as a mechanism for inherited ventricular arrhythmias in German Shepherd dogs. Journal of the American College of Cardiology — PubMed:PMID8626969 — OMIA Phene_Article / Article - 1997. Heterogeneous sympathetic innervation in german shepherd dogs with inherited ventricular arrhythmia and sudden cardiac death. Circulation — PubMed:PMID9286967 — OMIA Phene_Article / Article - 1999. Abnormal cardiac repolarization and impulse initiation in German shepherd dogs with inherited ventricular arrhythmias and sudden death. Cardiovascular Research — PubMed:PMID10434997 — OMIA Phene_Article / Article - 1999. Familial ventricular arrhythmias in boxers. Journal of Veterinary Internal Medicine — PubMed:PMID10499727 — OMIA Phene_Article / Article - 2000. Electropharmacological characterization of cardiac repolarization in German shepherd dogs with an inherited syndrome of sudden death: Abnormal response to potassium channel blockers. Journal of the American College of Cardiology — PubMed:PMID10987623 — OMIA Phene_Article / Article - 2000. beta(1) and beta(2)-adrenergic receptor subtype effects in German shepherd dogs with inherited lethal ventricular arrhythmias. Cardiovascular Research — PubMed:PMID11054468 — OMIA Phene_Article / Article - 2004. Mechanisms of alpha-adrenergic potentiation of ventricular arrhythmias in dogs with inherited arrhythmic sudden death. Cardiovasc Res — PubMed:PMID14985068 | DOI:10.1016/j.cardiores.2003.12.025 — OMIA Phene_Article / Article - 2003. Heterogeneous ventricular repolarization provides a substrate for arrhythmias in a German shepherd model of spontaneous arrhythmic death. Circulation — PubMed:PMID12939224 | DOI:10.1161/01.CIR.0000086461.86642.22 — OMIA Phene_Article / Article - 2005. Regional dispersion of L-type calcium current in ventricular myocytes of German shepherd dogs with lethal cardiac arrhythmias. Heart Rhythm — PubMed:PMID15851292 | DOI:10.1016/j.hrthm.2004.10.041 — OMIA Phene_Article / Article - 2011. Implantable cardioverter-defibrillator in a German shepherd dog with ventricular arrhythmias. J Vet Cardiol — PubMed:PMID21849269 | DOI:10.1016/j.jvc.2011.04.006 — OMIA Phene_Article / Article - (16 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:618329 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616658 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [188]

Boykin Spaniel — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Boykin Spaniel (Dog) [69]

Boykin Spaniel — Von Willebrand disease II (hereditary; OMIA-verified breed predisposition)

Summary: see also [OMIA:001057-9615]: Von Willebrand disease I in Canis lupus familiaris, [OMIA:001058-9615]: Von Willebrand disease III in Canis lupus familiaris and [OMIA:001056-9615]: Von Willebrand disease, generic in Canis lupus familiaris [189]

Prevalence: Vos-Loohuis et al. (2017) reported that the c.1657G allele fully segregates with the c.4937G allele and VWD in the GSP breed as it does in the GWP breed.... that the c.4937G variant but not the c.1657G allele is present in the Chinese Crested dog breed. Of the 41 tested dogs of this breed, 14 were carriers and three were homozygous for the c.4937G allele. Owners of the Chinese Crested dogs that were homozygous for this variant were contacted, and none of the dogs had signs of a bleeding disorder. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: F8VWF (Entrez Gene ID 399544) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in other species), Kramer et al. (2004) showed that a likely causal variant for this disorder in German Shorthaired Pointers is a base substitution in exon 28 of the VWF gene (c.4937A>G; p.Asn1646Ser). Vos-Loohuis et al. (2017) reported that the most likely causal variant for this disorder in a … Evidence (references) - 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost — PubMed:PMID8128434 — OMIA Phene_Article / Article - 1999. A review of canine inherited bleeding disorders: Biochemical and molecular strategies for disease characterization and carrier detection. J Hered — PubMed:PMID9987916 | DOI:10.1093/jhered/90.1.112 — OMIA Phene_Article / Article - 2001. Canine von Willebrand's disease type 2 in German wirehair pointers in the Netherlands. Veterinary Record — PubMed:PMID12503596 — OMIA Phene_Article / Article - 2004. A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of german shorthaired pointer dogs. Vet Pathol — PubMed:PMID15133170 | DOI:10.1354/vp.41-3-221 — OMIA Phene_Article / Article - 2012. Estimated prevalence of canine Type 2 Von Willebrand disease in the Deutsch-Drahthaar (German Wirehaired Pointer) in Europe. Res Vet Sci — PubMed:PMID22824509 | DOI:10.1016/j.rvsc.2012.06.010 — OMIA Phene_Article / Article - 1996. von Willebrand's disease in the dog and cat. Vet Clin North Am Small Anim Pract — PubMed:PMID8863392 | DOI:10.1016/s0195-5616(96)50057-4 — OMIA Phene_Article / Article - 1992. Management of canine von Willebrand's disease. Probl Vet Med — PubMed:PMID1472774 — OMIA Phene_Article / Article - 2016. Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies. J Thromb Haemost — PubMed:PMID26924758 | DOI:10.1111/jth.13301 — OMIA Phene_Article / Article - 2017. A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers. Anim Genet — PubMed:PMID28696025 | DOI:10.1111/age.12544 — OMIA Phene_Article / Article - 1996. Severe, recessive von Willebrand's disease in German Wirehaired Pointers. J Am Vet Med Assoc — PubMed:PMID8790542 — OMIA Phene_Article / Article - 1996. Plasma von Willebrand factor antigen concentration as a predictor of von Willebrand's disease status in German Wirehaired Pointers. J Am Vet Med Assoc — PubMed:PMID8790543 — OMIA Phene_Article / Article - 2006. Development of a collagen-binding activity assay as a screening test for type II von Willebrand disease in dogs. Am J Vet Res — PubMed:PMID16454628 | DOI:10.2460/ajvr.67.2.242 — OMIA Phene_Article / Article - (5 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:613554 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613160 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [189]

Braque du Bourbonnais — Exfoliative cutaneous lupus erythematosus (hereditary; OMIA-verified breed predisposition)

Breed: Braque du Bourbonnais (Dog) [190]

Summary: Exfoliative cutaneous lupus erythematosus is characterized by scaling and crusting skin lesions that progress over the entire body. In later stages, the disease may also become systemic with the involvement of additional organs. [190]

Clin feat: This is an exfoliating skin disease, with significant scaling and crusting that begin on the face, ears and back. Scaling progresses to involve the entire body. Secondary infections are common. Lesions can be scales, crusts, pustules, papules, erythema, and/or alopecia (Wang et al., 2011, Vroom et al., 1995, Mauldin et al., 2010). Most affected dogs present before 10 months of age, but signs can begin as late as 2.75 years. Dogs that live with this condition for several years may develop lupus nephritis. Many dogs show lameness and a hunched stance due to arthralgia. Dogs can also become infertile, with low sperm counts and abnormal estrous cycles (Wang et al., 2011, Mauldin et al., 2010). [190]

Pathology: ECLE is characterized by vacuolar degeneration of basal keratinocytes and multifocal apoptotic basal cells. Exocytosis of lymphocytes into the basal and suprabasal layers of the epidermis and a mild to moderate band-like subepidermal infiltrate composed of lymphocytes, plasma cells and few histiocytes is present (cell rich interface dermatitis). These changes may result in pigmentary incontinence and subepidermal cleft formation. Interface changes are also present in the infundibulum and the outer root sheath of the isthmus and the suprabulbar region of hair follicles. Follicles may undergo subsequent atrophy. Sebaceous glands may be infiltrated with lymphocytes and become absent multifocally. The epidermis is covered by moderate amounts of orthokeratotic laminar keratin which exfoliates (Bryden et al., 2005, Olivry et al., 2018). Mild vacuolar degeneration of basal keratinocytes may be visible in dogs as early as 6 weeks of age and will be fully developed at the age of 4 to 6 months. A generalized peripheral lymphadenomegaly has been reported in one-third of the dogs (Wang et al., 2011). Direct immunofluorescence revealed the deposition along the epidermal basement membrane of IgG in all, and IgM, IgA and C3 in a smaller percentage of the paraffin sections tested. Indirect immunofluorescence testing revealed the existence of circulating anti-follicular IgG and anti-sebaceous gland antibodies in the serum of more than 50% of the dogs (Bryden et al., 2005). [190]

Prevalence: This is a rare disease among German shorthaired pointers (Vroom et al., 1995) and related hunting dog breeds. Leeb et al. (2020) reported that The homozygous mutant genotype [i.e. homozygous for UNC93B1:c.1438A] was exclusively observed in 23 ECLE affected German Shorthaired Pointers and an ECLE affected Vizsla, but absent from 845 controls. Heterozygous carriers were found in German Shorthaired Pointers, German Longhaired Pointers, and Viszlas (Leeb et al., 2020). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388250234 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Leeb et al. (2020): "investigated dogs with exfoliative cutaneous lupus erythematosus (ECLE), a dog-specific form of chronic CLE that is inherited as a monogenic autosomal recessive trait. A genome-wide association study (GWAS) with 14 cases and 29 controls confirmed a previously published result [Wang et al., 2011] that the causative variant maps to chromosome 18. Autozygosity mapping refined the… Evidence (references) - 1992. Lupoid dermatosis in a German short-haired pointer. Vet Rec — PubMed:PMID1471334 | DOI:10.1136/vr.131.21.495 — OMIA Phene_Article / Article - 1995. Lupoid dermatosis in five german short-haired pointers. Veterinary Dermatology — OMIA Phene_Article / Article - 2005. Clinical, histopathological and immunological characteristics of exfoliative cutaneous lupus erythematosus in 25 German short-haired pointers. Vet Dermatol — PubMed:PMID16101795 | DOI:10.1111/j.1365-3164.2005.00468.x — OMIA Phene_Article / Article - 2010. Exfoliative cutaneous lupus erythematosus in German shorthaired pointer dogs: disease development, progression and evaluation of three immunomodulatory drugs (ciclosporin, hydroxychloroquine, and adalimumab) in a controlled environment. Vet Dermatol — PubMed:PMID20374572 | DOI:10.1111/j.1365-3164.2010.00867.x — OMIA Phene_Article / Article - 2011. Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE. Immunogenetics — PubMed:PMID21132284 | DOI:10.1007/s00251-010-0499-z — OMIA Phene_Article / Article - 2017. Therapeutic effectiveness of calcineurin inhibitors in canine vesicular cutaneous lupus erythematosus. Vet Dermatol — PubMed:PMID28439997 | DOI:10.1111/vde.12448 — OMIA Phene_Article / Article - 2018. Cutaneous lupus erythematosus in dogs: a comprehensive review. BMC Vet Res — PubMed:PMID29669547 | DOI:10.1186/s12917-018-1446-8 — OMIA Phene_Article / Article - 2020. A missense variant affecting the C-terminal tail of UNC93B1 in dogs with exfoliative cutaneous lupus erythematosus (ECLE). Genes (Basel) — PubMed:PMID32028618 | DOI:10.3390/genes11020159 — OMIA Phene_Article / Article - 2019. UNC93B1 recruits syntenin-1 to dampen TLR7 signalling and prevent autoimmunity. Nature — PubMed:PMID31546246 | DOI:10.1038/s41586-019-1612-6 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. German Shorthaired Pointer dogs with exfoliative cutaneous lupus erythematosus develop immune-complex membranous glomerulonephropathy. Vet Pathol — PubMed:PMID37222157 | DOI:10.1177/03009858231173362 — OMIA Phene_Article / Article - 2024. Canine exfoliative cutaneous lupus erythematosus in two mixed breed littermates. Vet Dermatol — PubMed:PMID39344864 | DOI:10.1111/vde.13301 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608204 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [190]

Brazilian Terrier — Mucopolysaccharidosis VII (hereditary; OMIA-verified breed predisposition)

Breed: Brazilian Terrier (Dog) [191]

Summary: Mucopolysaccharidosis VII is a lysosomal storage disease characterized by accumulation of undegraded glycosaminoglycans (dermatan, heparan, and chondroitin sulfates) in lysosomes. Clinical signs include facial dysmorphia, diffuse corneal clouding, appendicular and axial skeletal lesions, and glycosaminoglycans in urine. Affected animals are deficient in the enzyme beta-glucuronidase, which is a lysosomal acid hydrolase. Affected animals have very low enzyme activity compared to normal animals, and carriers have 40-60% enzyme activity compared to normal animals. The mode of inheritance is autosomal recessive. The causative mutation is a G to A substitution in the gene coding for the hydrolase, beta-glucuronidase (GUSB). There is a test available to detect the causative mutation. Testing siblings of affected dogs is recommended. Breeding of carriers or affected dogs is not recommended. Edited by Mark Haskins, VMD, Ph.D [191]

Clin feat: At 4 weeks of age, affected dogs show a shortened, broad face, low-set ears, and a laterally broad chest. By 8 weeks of age, diffuse corneal clouding is apparent. At 9 weeks of age, affected dogs are half as large as their normal littermates, but have disproportionately large heads. Polymorphonuclear leukocytes and lymphocytes from affected animals contain coarse cytoplasmic granules that stain with toluidine blue. Urine from affected animals contain excessive chondroitin 4- and 6-sulfates and dermatan and heparan sulfates. By 2 to 5 months of age, affected dogs have trouble standing but can move in sternal recumbency. Most joints are easily subluxated and crepitant, with swollen, fluctuant joint capsules filled with excessive synovial fluid. There is significant epiphyseal dysplasia. Cardiac abnormalities, primarily mitral insufficiency and aortic aneurism can be present but are variable (Haskins et al., 1991). [191]

Pathology: Affected animals are deficient in the enzyme beta-glucuronidase, which is a lysosomal acid hydrolase. Affected animals have very low enzyme activity compared to normal animals, and carriers have 40-60% enzyme activity compared to normal animals. Signs are caused by accumulation of undegraded glycosaminoglycans in lysosomes (Ray et al., 1999). Affected animals exhibit a misshapen and narrowed trachea, thickening of the AV heart valve leaflets and chordae tendinae, thickened aortic arch, hyperplasia of synovial membranes, and erosion of the articular cartilage (Haskins et al., 1991). Cytoplasmic vacuoles are evident in neurons of the central nervous system, hepatocytes, Kupffer cells, keratocytes, retinal pigment epithelium, AV heart valve fibroblasts, aortic smooth muscle cells, leukocytes, chondrocytes, and synovial cells. These vacuoles are either empty or contain granular or lamellar material (Haskins et al., 1991). [191]

Control: Testing siblings of affected dogs is recommended. Breeding of carriers or affected dogs is not recommended. [191]

Briard — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Briard (Dog) [68]

Briard — Day blindness (hereditary; OMIA-verified breed predisposition)

Summary: References relating to hemeralopia in Alsakan Malamutes have been moved to 'OMIA 001365-9615: Achromatopsia-3, CNGB3-related in Canis lupus familiaris' [20/10/2022] Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1992. Changes in the DC electroretinogram in Briard dogs with hereditary congenital night blindness and partial day blindness.. Exp Eye Res — PubMed:PMID1559557 | DOI:10.1016/s0014-4835(05)80218-0 — OMIA Phene_Article / Article - 1992. Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness.. Exp Eye Res — PubMed:PMID1486939 | DOI:10.1016/0014-4835(92)90007-f — OMIA Phene_Article / Article - 1994. Rod dysplasia and early retinal degeneration in a Briard Shepherd Pup: Clinical, histological, and ultrastructural study: A case report and literature review. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1995. Rod dysplasia and early retinal degeneration in a young Briard Sheepdog. Veterinary Quarterly — OMIA Phene_Article / Article - 1992. Changes in the DC electroretinogram in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res — PubMed:PMID1559557 | DOI:10.1016/s0014-4835(05)80218-0 — OMIA Phene_Article / Article - 1992. Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res — PubMed:PMID1486939 | DOI:10.1016/0014-4835(92)90007-f — OMIA Phene_Article / Article - 1994. Rod dysplasia and early retinal degeneration in a Briard Shepherd Pup: Clinical, histological, and ultrastructural study: A case report and literature review. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1995. Rod dysplasia and early retinal degeneration in a young Briard Sheepdog. Veterinary Quarterly — OMIA Phene_Article / Article - 1992. Changes in the DC electroretinogram in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res — PubMed:PMID1559557 | DOI:10.1016/s0014-4835(05)80218-0 — OMIA Phene_Article / Article - 1992. Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res — PubMed:PMID1486939 | DOI:10.1016/0014-4835(92)90007-f — OMIA Phene_Article / Article - 1994. Rod dysplasia and early retinal degeneration in a Briard Shepherd Pup: Clinical, histological, and ultrastructural study: A case report and literature review. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1995. Rod dysplasia and early retinal degeneration in a young Briard Sheepdog. Veterinary Quarterly — OMIA Phene_Article / Article - 1992. Changes in the DC electroretinogram in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res — PubMed:PMID1559557 | DOI:10.1016/s0014-4835(05)80218-0 — OMIA Phene_Article / Article - 1992. Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res — PubMed:PMID1486939 | DOI:10.1016/0014-4835(92)90007-f — OMIA Phene_Article / Article - 1994. Rod dysplasia and early retinal degeneration in a Briard Shepherd Pup: Clinical, histological, and ultrastructural study: A case report and literature review. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1995. Rod dysplasia and early retinal degeneration in a young Briard Sheepdog. Veterinary Quarterly — OMIA Phene_Article / Article - 1992. Changes in the DC electroretinogram in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res — PubMed:PMID1559557 | DOI:10.1016/s0014-4835(05)80218-0 — OMIA Phene_Article / Article - 1992. Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res — PubMed:PMID1486939 | DOI:10.1016/0014-4835(92)90007-f — OMIA Phene_Article / Article - 1994. Rod dysplasia and early retinal degeneration in a Briard Shepherd Pup: Clinical, histological, and ultrastructural study: A case report and literature review. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1995. Rod dysplasia and early retinal degeneration in a young Briard Sheepdog. Veterinary Quarterly — OMIA Phene_Article / Article [192]

Briard — Retinal dystrophy; congenital stationary night blindness (CSNB) (hereditary; OMIA-verified breed predisposition)

Disorder: Retinal dystrophy; congenital stationary night blindness (CSNB) [193]

Clin feat: Kondo et al. (2015) reported that the diagnosis of this disorder as congenital stationary night blindness by Narfström et al. (1989) was actually incorrect, and that the disorder described in this OMIA entry is not actually congenital stationary night blindness. Kondo et al. (2015) do not provide any suggestions as to the correct diagnosis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403803 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Despite much molecular detective work, the cause of this particular disorder in Swedish Briards remained a mystery for many years. In two papers, Veske et al. (1997) excluded four genes as the source of the mutation causing the disorder: arrestin, rhodopsin, beta-subunit of photoreceptor-specific phosphodiesterase by segregation analysis, and rod photoreceptor cgmp-gated cation channel alpha-subun… Evidence (references) - 1989. The Briard dog - A new animal model of congenital stationary night blindness. Br J Ophthalmol — PubMed:PMID2804031 | DOI:10.1136/bjo.73.9.750 — OMIA Phene_Article / Article - 1996. Retinal pigment epithelial dystrophy in Briard dogs. Research in Veterinary Science — PubMed:PMID8745249 — OMIA Phene_Article / Article - 1997. Lipids of plasma, retina, and retinal pigment epithelium in Swedish Briard dogs with a slowly progressive retinal dystrophy. Experimental Eye Research — PubMed:PMID9176051 | DOI:10.1006/exer.1996.0195 — OMIA Phene_Article / Article - 1997. Isolation of canine retinal arrestin cDNA and exclusion of three candidate genes for Swedish Briard retinal dystrophy. Current Eye Research — PubMed:PMID9088745 — OMIA Phene_Article / Article - 1997. Cases of inherited retinal pigmented epithelium dystrophy in wire-haired fox terrier - an original clinical study and a review of literature [French]. Revue de Medecine Veterinaire — OMIA Phene_Article / Article - 1997. Characterization of canine rod photoreceptor cgmp-gated cation channel alpha-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards. Gene — PubMed:PMID9427553 — OMIA Phene_Article / Article - 1998. Organization of the canine gene encoding the E isoform of retinal guanylate cyclase (CGC-E) and exclusion of its involvement in the inherited retinal dystrophy of the Swedish Briard and Briard-Beagle dogs. Biochimica et Biophysica Acta - Biomembranes — OMIA Phene_Article / Article - 1999. Retinal dystrophy of Swedish briard briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics — PubMed:PMID10191083 | DOI:10.1006/geno.1999.5754 — OMIA Phene_Article / Article - 2001. Congenital stationary night blindness in briards in the UK. Veterinary Record — PubMed:PMID11316301 — OMIA Phene_Article / Article - 2001. Congenital stationary night blindness in briards in the UK. Veterinary Record — PubMed:PMID11334084 — OMIA Phene_Article / Article - 2002. Microdeletion in the RPE65 gene causing hereditary retinal dystrophy (HRD) disease segregates in the Polish population of Briards. Medycyna Weterynaryjna — OMIA Phene_Article / Article - 2002. Vitamin E deficiency in dogs with retinal pigment epithelial dystrophy. Veterinary Record — PubMed:PMID12498409 — OMIA Phene_Article / Article - (40 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:204100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:180069 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613794 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618697 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [193]

Brittany Spaniel — C3 deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Brittany Spaniel (Dog) [194]

Summary: Deficiency of the third component of complement results in susceptibility to a range of bacterial infections and to type 1 membranoproliferative glomerulonephritis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3477095 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The first report of the molecular basis of this disorder was by Ameratunga et al. (1998) who, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human and mouse disorders) in a colony of Brittany dogs segregating for C3 deficiency, identified a frameshift due to "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a… Evidence (references) - 1991. Membranoproliferative glomerulonephritis in dogs with a genetically determined deficiency of the third component of complement. Clin Immunol Immunopathol — PubMed:PMID1864020 | DOI:10.1016/0090-1229(91)90101-f — OMIA Phene_Article / Article - 1986. Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs. American Journal of Medical Genetics — PubMed:PMID3789016 | DOI:10.1002/ajmg.1320250319 — OMIA Phene_Article / Article - 1998. Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. J Immunol — PubMed:PMID9510185 — OMIA Phene_Article / Article - 2010. Complement C3 in Bernese Mountain dogs. Vet Clin Pathol — PubMed:PMID20003027 | DOI:10.1111/j.1939-165X.2009.00205.x — OMIA Phene_Article / Article - 2008. Immunofluorescence staining for the detection of immunoglobulins and complement (C3) in dogs with renal disease. Vet Rec — PubMed:PMID19060316 — OMIA Phene_Article / Article - 2006. Serum concentrations of the third component of complement in healthy dogs and dogs with protein-losing nephropathy. Am J Vet Res — PubMed:PMID16817728 | DOI:10.2460/ajvr.67.7.1105 — OMIA Phene_Article / Article - 1994. Complement C3 deficiency: human, animal, and experimental models. Pathobiology — PubMed:PMID8031472 | DOI:10.1159/000163873 — OMIA Phene_Article / Article - 1993. Effect of age on serum concentrations of the third component of complement in dogs. Zentralbl Veterinarmed B — PubMed:PMID8284953 | DOI:10.1111/j.1439-0450.1993.tb00157.x — OMIA Phene_Article / Article - 1993. Hereditary deficiency of C3 in animals and humans. Int Rev Immunol — PubMed:PMID8340676 | DOI:10.3109/08830189309051170 — OMIA Phene_Article / Article - 1989. Development of an enzyme-linked immunosorbent assay to detect IgG, IgM, and complement (C3) on canine erythrocytes. Am J Vet Res — PubMed:PMID2782718 — OMIA Phene_Article / Article - 1988. Role of C3 in humoral immunity. Defective antibody production in C3-deficient dogs. J Immunol — PubMed:PMID3346548 — OMIA Phene_Article / Article - 1987. C3-like activity in C3-deficient dog serum. Complement — PubMed:PMID3105954 | DOI:10.1159/000463007 — OMIA Phene_Article / Article - (7 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:613779 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120700 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [194]

Brittany Spaniel — Muscular dystrophy (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy (Shelton et al., 2004; Kornegay et al., 2011). [195]

Summary: This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Genetic tests are available. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [195]

Prevalence: Muscular dystrophy in the Golden Retriever (GRMD) has received most study (Kornegay et al., 2011), but has been identified in several breeds. [195]

Gen test: Causative mutations are known in the Golden Retriever, Rottweiler, German Shorthaired Pointer, and Cavalier King Charles Spaniel. A PCR-based test is available to detect the mutation in these breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA molecular-genetics note: All causative mutations occur within the dystrophin gene, although the molecular basis of the dystrophin mutation may be different between breeds. In the Golden Retriever, there is a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene, such that exon 7 is skipped during mRNA processing. The amino acid frame shift causes premature termination of the dystrophin prot… Evidence (references) - 1989. Development of Duchenne-Type Cardiomyopathy - Morphologic Studies in a Canine Model. American Journal of Pathology — PubMed:PMID2679113 — OMIA Phene_Article / Article - 1990. Mosaic Expression of Dystrophin in Carriers of Canine X-Linked Muscular Dystrophy. Laboratory Investigation — PubMed:PMID2406503 — OMIA Phene_Article / Article - 1989. Clinical Electromyographic Studies of Canine X-Linked Muscular Dystrophy. American Journal of Veterinary Research — PubMed:PMID2610444 — OMIA Phene_Article / Article - 1991. Lipid Fluidity and Composition of the Erythrocyte Membrane from Healthy Dogs and Labrador Retrievers with Hereditary Muscular Dystrophy. Neurochemical Research — PubMed:PMID1908955 — OMIA Phene_Article / Article - 1991. Canine X-Linked Muscular Dystrophy Studied with Invivo Phosphorus Magnetic Resonance Spectroscopy. Muscle & Nerve — PubMed:PMID1745283 | DOI:10.1002/mus.880141109 — OMIA Phene_Article / Article - 1991. Invitro Characteristics of Normal and Dystrophic Skeletal Muscle from Dogs. American Journal of Veterinary Research — PubMed:PMID2021236 — OMIA Phene_Article / Article - 1992. An Error in Dystrophin Messenger RNA Processing in Golden Retriever Muscular Dystrophy, an Animal Homologue of Duchenne Muscular Dystrophy. Genomics — PubMed:PMID1577476 — OMIA Phene_Article / Article - 1992. Canine X-Linked Muscular Dystrophy as an Animal Model of Duchenne Muscular Dystrophy - A Review. American Journal of Medical Genetics — PubMed:PMID1536178 | DOI:10.1002/ajmg.1320420320 — OMIA Phene_Article / Article - 1993. Magnetic Affinity Cell Sorting (MACS) Separation and Flow Cytometric Characterization of Neural Cell Adhesion Molecule- Positive, Cultured Myogenic Cells from Normal and Dystrophic Dogs. Experimental Cell Research — PubMed:PMID8375474 | DOI:10.1006/excr.1993.1267 — OMIA Phene_Article / Article - 1993. Comparison of Basic Fibroblast Growth Factor in X-Linked Dystrophin-Deficient Myopathies of Human, Dog and Mouse. Growth Factors — PubMed:PMID8217214 — OMIA Phene_Article / Article - 1994. Experimental Regeneration in Canine Muscular Dystrophy .2. Expression of Myosin Heavy Chain Isoforms. Neuromuscular Disorders — PubMed:PMID7513568 — OMIA Phene_Article / Article - 1994. A Role for Mast Cells in the Progression of Duchenne Muscular Dystrophy - Correlations in Dystrophin-Deficient Humans, Dogs, and Mice. Journal of the Neurological Sciences — PubMed:PMID8195802 — OMIA Phene_Article / Article - (12 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:602307 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [195]

Brussels Griffon — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)

Breed: Brussels Griffon (Dog) [141]

Brussels Griffon — Syringomyelia (hereditary; OMIA-verified breed predisposition)

Summary: See also [OMIA:001861-9615]: Chiari malformation Type I with syringomyelia in Canis lupus familiaris. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1965. Spinal dysraphism in the dog, with comments on syringomylia. Pathologia Veterinaria — PubMed:PMID5893238 — OMIA Phene_Article / Article - 1996. Syringomyelia and hydrocephalus in a dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 2000. Syringohydromyelia in Cavalier King Charles spaniels. Journal of the American Animal Hospital Association — PubMed:PMID10667404 — OMIA Phene_Article / Article - 2000. Syringomyelia and hydromyelia in dogs and cats. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 2000. Magnetic resonance imaging of syringomyelia in five dogs. Journal of Small Animal Practice — PubMed:PMID11002940 — OMIA Phene_Article / Article - 2008. Syringomyelia in cavalier King Charles spaniels.. Vet Rec — PubMed:PMID18326849 — OMIA Phene_Article / Article - 2008. Clinical improvement in two dogs with hydrocephalus and syringohydromyelia after ventriculoperitoneal shunting.. Aust Vet J — PubMed:PMID18271823 | DOI:10.1111/j.1751-0813.2007.00247.x — OMIA Phene_Article / Article - 2008. Radiographic morphology of the cranial portion of the cervical vertebral column in Cavalier King Charles Spaniels and its relationship to syringomyelia.. Am J Vet Res — PubMed:PMID18167092 | DOI:10.2460/ajvr.69.1.89 — OMIA Phene_Article / Article - 2007. Syringomyelia in cavalier King Charles spaniels: the relationship between syrinx dimensions and pain.. J Small Anim Pract — PubMed:PMID17608656 | DOI:10.1111/j.1748-5827.2007.00344.x — OMIA Phene_Article / Article - 2008. Pathophysiology and treatment of neuropathic pain associated with syringomyelia.. Vet J — PubMed:PMID17317245 | DOI:10.1016/j.tvjl.2006.12.007 — OMIA Phene_Article / Article - 2006. Acquired cervical syringomyelia secondary to a brainstem meningioma in a maltese dog.. J Vet Med Sci — PubMed:PMID17146188 — OMIA Phene_Article / Article - 2006. Coexistence of occipital dysplasia and occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel.. J Small Anim Pract — PubMed:PMID17004953 | DOI:10.1111/j.1748-5827.2006.00048.x — OMIA Phene_Article / Article - (46 additional references in OMIA) - 1965. Spinal dysraphism in the dog, with comments on syringomylia. Pathologia Veterinaria — PubMed:PMID5893238 — OMIA Phene_Article / Article - 1996. Syringomyelia and hydrocephalus in a dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 2000. Syringohydromyelia in Cavalier King Charles spaniels. Journal of the American Animal Hospital Association — PubMed:PMID10667404 — OMIA Phene_Article / Article - 2000. Syringomyelia and hydromyelia in dogs and cats. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 2000. Magnetic resonance imaging of syringomyelia in five dogs. Journal of Small Animal Practice — PubMed:PMID11002940 — OMIA Phene_Article / Article - 2008. Syringomyelia in cavalier King Charles spaniels. Vet Rec — PubMed:PMID18326849 — OMIA Phene_Article / Article - 2008. Clinical improvement in two dogs with hydrocephalus and syringohydromyelia after ventriculoperitoneal shunting. Aust Vet J — PubMed:PMID18271823 | DOI:10.1111/j.1751-0813.2007.00247.x — OMIA Phene_Article / Article - 2008. Radiographic morphology of the cranial portion of the cervical vertebral column in Cavalier King Charles Spaniels and its relationship to syringomyelia. Am J Vet Res — PubMed:PMID18167092 | DOI:10.2460/ajvr.69.1.89 — OMIA Phene_Article / Article - 2007. Syringomyelia in cavalier King Charles spaniels: the relationship between syrinx dimensions and pain. J Small Anim Pract — PubMed:PMID17608656 | DOI:10.1111/j.1748-5827.2007.00344.x — OMIA Phene_Article / Article - 2008. Pathophysiology and treatment of neuropathic pain associated with syringomyelia. Vet J — PubMed:PMID17317245 | DOI:10.1016/j.tvjl.2006.12.007 — OMIA Phene_Article / Article - 2006. Acquired cervical syringomyelia secondary to a brainstem meningioma in a maltese dog. J Vet Med Sci — PubMed:PMID17146188 — OMIA Phene_Article / Article - 2006. Coexistence of occipital dysplasia and occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel. J Small Anim Pract — PubMed:PMID17004953 | DOI:10.1111/j.1748-5827.2006.00048.x — OMIA Phene_Article / Article - (46 additional references in OMIA) - 1965. Spinal dysraphism in the dog, with comments on syringomylia. Pathologia Veterinaria — PubMed:PMID5893238 — OMIA Phene_Article / Article - 1996. Syringomyelia and hydrocephalus in a dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 2000. Syringohydromyelia in Cavalier King Charles spaniels. Journal of the American Animal Hospital Association — PubMed:PMID10667404 — OMIA Phene_Article / Article - 2000. Syringomyelia and hydromyelia in dogs and cats. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 2000. Magnetic resonance imaging of syringomyelia in five dogs. Journal of Small Animal Practice — PubMed:PMID11002940 — OMIA Phene_Article / Article - 2008. Syringomyelia in cavalier King Charles spaniels. Vet Rec — PubMed:PMID18326849 — OMIA Phene_Article / Article - 2008. Clinical improvement in two dogs with hydrocephalus and syringohydromyelia after ventriculoperitoneal shunting. Aust Vet J — PubMed:PMID18271823 | DOI:10.1111/j.1751-0813.2007.00247.x — OMIA Phene_Article / Article - 2008. Radiographic morphology of the cranial portion of the cervical vertebral column in Cavalier King Charles Spaniels and its relationship to syringomyelia. Am J Vet Res — PubMed:PMID18167092 | DOI:10.2460/ajvr.69.1.89 — OMIA Phene_Article / Article - 2007. Syringomyelia in cavalier King Charles spaniels: the relationship between syrinx dimensions and pain. J Small Anim Pract — PubMed:PMID17608656 | DOI:10.1111/j.1748-5827.2007.00344.x — OMIA Phene_Article / Article - 2008. Pathophysiology and treatment of neuropathic pain associated with syringomyelia. Vet J — PubMed:PMID17317245 | DOI:10.1016/j.tvjl.2006.12.007 — OMIA Phene_Article / Article - 2006. Acquired cervical syringomyelia secondary to a brainstem meningioma in a maltese dog. J Vet Med Sci — PubMed:PMID17146188 — OMIA Phene_Article / Article - 2006. Coexistence of occipital dysplasia and occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel. J Small Anim Pract — PubMed:PMID17004953 | DOI:10.1111/j.1748-5827.2006.00048.x — OMIA Phene_Article / Article - (46 additional references in OMIA) - 1965. Spinal dysraphism in the dog, with comments on syringomylia. Pathologia Veterinaria — PubMed:PMID5893238 — OMIA Phene_Article / Article - 1996. Syringomyelia and hydrocephalus in a dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 2000. Syringohydromyelia in Cavalier King Charles spaniels. Journal of the American Animal Hospital Association — PubMed:PMID10667404 — OMIA Phene_Article / Article - 2000. Syringomyelia and hydromyelia in dogs and cats. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 2000. Magnetic resonance imaging of syringomyelia in five dogs. Journal of Small Animal Practice — PubMed:PMID11002940 — OMIA Phene_Article / Article - 2008. Syringomyelia in cavalier King Charles spaniels. Vet Rec — PubMed:PMID18326849 — OMIA Phene_Article / Article - 2008. Clinical improvement in two dogs with hydrocephalus and syringohydromyelia after ventriculoperitoneal shunting. Aust Vet J — PubMed:PMID18271823 | DOI:10.1111/j.1751-0813.2007.00247.x — OMIA Phene_Article / Article - 2008. Radiographic morphology of the cranial portion of the cervical vertebral column in Cavalier King Charles Spaniels and its relationship to syringomyelia. Am J Vet Res — PubMed:PMID18167092 | DOI:10.2460/ajvr.69.1.89 — OMIA Phene_Article / Article - 2007. Syringomyelia in cavalier King Charles spaniels: the relationship between syrinx dimensions and pain. J Small Anim Pract — PubMed:PMID17608656 | DOI:10.1111/j.1748-5827.2007.00344.x — OMIA Phene_Article / Article - 2008. Pathophysiology and treatment of neuropathic pain associated with syringomyelia. Vet J — PubMed:PMID17317245 | DOI:10.1016/j.tvjl.2006.12.007 — OMIA Phene_Article / Article - 2006. Acquired cervical syringomyelia secondary to a brainstem meningioma in a maltese dog. J Vet Med Sci — PubMed:PMID17146188 — OMIA Phene_Article / Article - 2006. Coexistence of occipital dysplasia and occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel. J Small Anim Pract — PubMed:PMID17004953 | DOI:10.1111/j.1748-5827.2006.00048.x — OMIA Phene_Article / Article - (46 additional references in OMIA) - 1965. Spinal dysraphism in the dog, with comments on syringomylia. Pathologia Veterinaria — PubMed:PMID5893238 — OMIA Phene_Article / Article - 1996. Syringomyelia and hydrocephalus in a dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 2000. Syringohydromyelia in Cavalier King Charles spaniels. Journal of the American Animal Hospital Association — PubMed:PMID10667404 — OMIA Phene_Article / Article - 2000. Syringomyelia and hydromyelia in dogs and cats. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 2000. Magnetic resonance imaging of syringomyelia in five dogs. Journal of Small Animal Practice — PubMed:PMID11002940 — OMIA Phene_Article / Article - 2008. Syringomyelia in cavalier King Charles spaniels. Vet Rec — PubMed:PMID18326849 — OMIA Phene_Article / Article - 2008. Clinical improvement in two dogs with hydrocephalus and syringohydromyelia after ventriculoperitoneal shunting. Aust Vet J — PubMed:PMID18271823 | DOI:10.1111/j.1751-0813.2007.00247.x — OMIA Phene_Article / Article - 2008. Radiographic morphology of the cranial portion of the cervical vertebral column in Cavalier King Charles Spaniels and its relationship to syringomyelia. Am J Vet Res — PubMed:PMID18167092 | DOI:10.2460/ajvr.69.1.89 — OMIA Phene_Article / Article - 2007. Syringomyelia in cavalier King Charles spaniels: the relationship between syrinx dimensions and pain. J Small Anim Pract — PubMed:PMID17608656 | DOI:10.1111/j.1748-5827.2007.00344.x — OMIA Phene_Article / Article - 2008. Pathophysiology and treatment of neuropathic pain associated with syringomyelia. Vet J — PubMed:PMID17317245 | DOI:10.1016/j.tvjl.2006.12.007 — OMIA Phene_Article / Article - 2006. Acquired cervical syringomyelia secondary to a brainstem meningioma in a maltese dog. J Vet Med Sci — PubMed:PMID17146188 — OMIA Phene_Article / Article - 2006. Coexistence of occipital dysplasia and occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel. J Small Anim Pract — PubMed:PMID17004953 | DOI:10.1111/j.1748-5827.2006.00048.x — OMIA Phene_Article / Article - (46 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:186700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:186700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:186700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:186700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:186700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [196]

Brussels Griffon — Vitreous degeneration (hereditary; OMIA-verified breed predisposition)

Summary: Krishnan et al. (2019) reported a retrospective study of 4217 dogs from the Companion Animal Eye Registry (CAER) that underwent breed screening ophthalmic examinations between 2013 and 2016. The breeds analyzed included the Italian Greyhound, Shih Tzu, Affenpinscher, Bichon Frise, Brussels Griffon, Whippets, and Greyhound. Data collected from CAER included age, gender, number of examinations, and whether vitreous degeneration, along with cataracts, lens luxation, glaucoma and/or retinal detachment were present in either or both eyes.. The study found that breed and age are significant drivers for developing VD. Italian Greyhounds, Brussels Griffons, and Shih Tzus have a significantly higher likelihood of VD compared to the negative control breed, the Greyhound.. However, no association was identified between vitreous degeneration and cataracts, lens luxation, glaucoma, or retinal detachment. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2020. Vitreous degeneration and associated ocular abnormalities in the dog.. Vet Ophthalmol — PubMed:PMID31464365 | DOI:10.1111/vop.12707 — OMIA Phene_Article / Article - 2023. Long-term evaluation of the effects of vitreous degeneration on cataracts and retinal detachment in dogs.. Vet Ophthalmol — PubMed:PMID36840613 | DOI:10.1111/vop.13078 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2020. Vitreous degeneration and associated ocular abnormalities in the dog. Vet Ophthalmol — PubMed:PMID31464365 | DOI:10.1111/vop.12707 — OMIA Phene_Article / Article - 2023. Long-term evaluation of the effects of vitreous degeneration on cataracts and retinal detachment in dogs. Vet Ophthalmol — PubMed:PMID36840613 | DOI:10.1111/vop.13078 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2020. Vitreous degeneration and associated ocular abnormalities in the dog. Vet Ophthalmol — PubMed:PMID31464365 | DOI:10.1111/vop.12707 — OMIA Phene_Article / Article - 2023. Long-term evaluation of the effects of vitreous degeneration on cataracts and retinal detachment in dogs. Vet Ophthalmol — PubMed:PMID36840613 | DOI:10.1111/vop.13078 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2020. Vitreous degeneration and associated ocular abnormalities in the dog. Vet Ophthalmol — PubMed:PMID31464365 | DOI:10.1111/vop.12707 — OMIA Phene_Article / Article - 2023. Long-term evaluation of the effects of vitreous degeneration on cataracts and retinal detachment in dogs. Vet Ophthalmol — PubMed:PMID36840613 | DOI:10.1111/vop.13078 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2020. Vitreous degeneration and associated ocular abnormalities in the dog. Vet Ophthalmol — PubMed:PMID31464365 | DOI:10.1111/vop.12707 — OMIA Phene_Article / Article - 2023. Long-term evaluation of the effects of vitreous degeneration on cataracts and retinal detachment in dogs. Vet Ophthalmol — PubMed:PMID36840613 | DOI:10.1111/vop.13078 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article [197]

Brussels Griffon — isolated growth hormone deficiency (hereditary; OMIA-verified breed predisposition)

Disorder: isolated growth hormone deficiency [198]

Clin feat: Iio et al. (2020):A 6-mo-old female Chihuahua was presented with recurrent episodes of hypoglycemia and collapse. Physical examination revealed proportionate dwarfism, retained puppy hair coat, retained deciduous teeth, and open fontanelles. Routine blood tests revealed hypoglycemia, thrombocytosis, hypoproteinemia, and elevated alkaline phosphatase activity. The urinalysis, radiographs, and ultrasonographs were unremarkable. Endocrine testing revealed that insulin-like growth factor 1 was below the detection limit; concentrations of total thyroxine, baseline cortisol, and cortisol stimulated by tetracosactide acetate were within their reference intervals. The pituitary gland showed no organic abnormalities on magnetic resonance imaging. For definitive diagnosis, we conducted the stimulation test for growth hormone (GH) release and diagnosed isolated GH deficiency. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: GH (Entrez Gene ID 388199274) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Iio et al. (2020) identified a likely causal variant, namely "a homozygous in-frame 6-bp deletion (c.573_578del) that resulted in 1 amino acid substitution (K165N) and 2 amino acid deletions (K166del and D167del) in exon 5 of GH1" Evidence (references) - 2020. Isolated growth hormone deficiency in a Chihuahua with a GH1 mutation. J Vet Diagn Invest — PubMed:PMID32646299 | DOI:10.1177/1040638720938671 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:262400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:139250 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612781 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:173100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [198]

Bull Mastiff — Calvarial hyperostotic syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Bull Mastiff (Dog) [91]

Bull Mastiff — Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus (hereditary; OMIA-verified breed predisposition)

Disorder: Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus [199]

Clin feat: Carmichael et al. (1983) provided the first clinical and pathological description of the disease. The most striking findings were ataxia, visual impairment and changes in behaviour. Cristen et al. (2022) investigated two young Bullmastiffs showing similar clinical signs. They developed progressive gait and behavioural abnormalities with an onset at around 6 months of age. Neurological assessment was consistent with a multifocal brain disease. Magnetic resonance imaging of the brain showed intra-axial bilateral symmetrical focal lesions localised to the cerebellar nuclei. Based on the juvenile age, nature of neurological deficits and imaging findings, an inherited disorder of the brain was suspected. [199]

Pathology: Carmichael et al. (1983) reported Macroscopically there was a moderate to severe internal hydrocephalus with dilation of all ventricles and the cerebral aqueduct. In addition a yellow/brown discoloration of the cerebellar nuclei was noted. The salient microscopic abnormality, a spongy vacuolar change with gliosis, was present in three deep cerebellar nuclei. and a small localised area in the base of the inferior colliculus.. Gliosis was present with an increase in both microglia and astrocytes, many of which were hypertrophied. Axonal spheroids were frequently observed within the lesions.. The lesions were all bilaterally symmetrical. Carmichael (1987) documented changes in the morphology of mitochondria of affected dogs by electron microscopy: Mitochondria were increased in number and many bizarre forms were present. Suiter et al. (2024) report a 9-month-old male Bullmastiff cross dog with progressive proprioceptive ataxia and behaviour changes that was homozygous for the known MFF frameshift variant. Diagnostic imaging and histopathological findings in this dog differed from previously reported cases, suggesting a different selective regional vulnerability of the neurons. [199]

Prevalence: Cristen et al. (2022) reported that The carrier frequency in the unrelated control cohort [of Bullmastiffs] was 12/65 (18%). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388245644 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Cristen et al. (2022) reported that comparison of the whole-genome sequence of an affected Bullmastiff "with 782 control genomes of dogs from diverse breeds . . . revealed a private homozygous frameshift variant in the MFF gene in the affected dog, XM_038574000.1: c.471_475delinsCGCTCT, that is predicted to truncate 55% of the wild type MFF open reading frame, XP_038429928.1: p.(Glu158Alafs*14). H… Evidence (references) - 1983. Familial cerebellar ataxia with hydrocephalus in bull mastiffs. Vet Rec — PubMed:PMID6857976 | DOI:10.1136/vr.112.15.354 — OMIA Phene_Article / Article - 2001. Familial cerebellar ataxia with hydrocephalus in bull mastiffs. Vet Radiol Ultrasound — PubMed:PMID11405268 | DOI:10.1111/j.1740-8261.2001.tb00934.x — OMIA Phene_Article / Article - 2022. Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy. Anim Genet — PubMed:PMID36085405 | DOI:10.1111/age.13263 — OMIA Phene_Article / Article - 1987. Familial cerebellar ataxia in the Bull Mastiff. Master thesis, University of Glasgow Veterinary School — OMIA Phene_Article / Article - 2024. Novel MRI and histopathological findings in a young Bullmastiff cross dog with mitochondrial fission encephalopathy. Vet Radiol Ultrasound — PubMed:PMID38706372 | DOI:10.1111/vru.13342 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:614785 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617086 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [199]

Bull Mastiff — White Doberman Pinscher (hereditary; OMIA-verified breed predisposition)

Disorder: White Doberman Pinscher [200]

Clin feat: Dogs with oculocutaneous albinism type IV have white (cream) coat coloration, blue eyes (iris), pink nose and lips, hypopigmented adnexal structures (eyelid margins, nictitating membrane margins, and cilia), and hypopigmented retinal pigment epithelium and choroid (Winkler et al., 2014). Dogs may also present with photophobia and vision defects (Winkler et al., 2014). Additionally, exposure of the hypopigmented skin to ultraviolet radiation may result in cutaneous melanocytic neoplasms and/or ocular masses (Caduff et al., 2017; Winkler et al., 2014). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: MATP (Entrez Gene ID 388253987) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Sequencing of the candidate gene in one white and one standard Doberman Pincher "revealed a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4[ratio]77,062,968–77,067,051)" (g.27141_31223del (CanFam2)) as a highly likely causative mutation (Winkler et al., 2014). As also reported by Winkler et al. (2014), "This mutation is predicted to cause the last 50 amino… Evidence (references) - 2014. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman Pinscher dogs. PLoS One — PubMed:PMID24647637 | DOI:10.1371/journal.pone.0092127 — OMIA Phene_Article / Article - 2015. A missense mutation in SLC45A2 is associated with albinism in several small long haired dog breeds. J Hered — PubMed:PMID25790827 | DOI:10.1093/jhered/esv008 — OMIA Phene_Article / Article - 2017. A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. Anim Genet — PubMed:PMID28737247 | DOI:10.1111/age.12582 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — OMIA Phene_Article / Article - 2023. Comprehensive analysis of geographic and breed-purpose influences on genetic diversity and inherited disease risk in the Doberman dog breed. Canine Med Genet — PubMed:PMID37277858 | DOI:10.1186/s40575-023-00130-3 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606574 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:227240 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606202 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [200]

Bull Mastiff — retinitis pigmentosa (hereditary; OMIA-verified breed predisposition)

Disorder: retinitis pigmentosa [201]

Clin feat: As detailed by Kijas et al. (2002), rod vision is normal for at least the first few months. But by 12-18 months, degeneration is evident, spreading slowly from a disease focus in one retinal region. In addition, there is an abnormally slow recovery of rod photoreceptor function after exposure to light.Homozygotes have more severe clinical signs than heterozygotes [Frank Nicholas, 26 June 2002] Iwabe et al. (2016) reported that a short single exposure to a dose of white light that is not retinotoxic in [wild-type] WT dogs causes in the T4R RHO retina an acute loss of ONL in the central to mid peripheral region that keeps progressing over the course of several weeks. However, this severe retinal damage does not affect visual behavior presumably because of islands of surviving photoreceptors found in the area centralis including the newly discovered canine fovea-like area, and the lack of damage to peripheral photoreceptors. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: RHO1 (Entrez Gene ID 493763) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Kijas et al. (2002) discovered an autosomal-dominant progressive retinal atrophy in English Mastiff dogs, with clinical signs very similar to a human dominant retinitis pigmentosa that is due to mutations in the gene for rhodopsin. Taking the rhodopsin gene as a strong comparative candidate, Kijas et al. (2002) sequenced all five exons of the canine rhodopsin gene from a heterozygous affected dog,… Evidence (references) - 2002. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID11972042 | DOI:10.1073/pnas.082714499 — OMIA Phene_Article / Article - 2005. Evaluation of prognostic factors, survival rates, and treatment protocols for immune-mediated hemolytic anemia in dogs: 151 cases (1993-2002). J Am Vet Med Assoc — PubMed:PMID15934255 — OMIA Phene_Article / Article - 2009. Steroids do not prevent photoreceptor degeneration in the light-exposed T4R rhodopsin mutant dog retina irrespective of AP-1 inhibition. Invest Ophthalmol Vis Sci — PubMed:PMID19234347 | DOI:10.1167/iovs.08-3111 — OMIA Phene_Article / Article - 2003. Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered — PubMed:PMID12692159 — OMIA Phene_Article / Article - 2005. In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa. Proc Natl Acad Sci U S A — PubMed:PMID9618546 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2016. Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog. Exp Eye Res — PubMed:PMID27085210 | DOI:10.1016/j.exer.2016.04.006 — OMIA Phene_Article / Article - 2015. Exclusion of the unfolded protein response in light-induced retinal degeneration in the canine T4R RHO model of autosomal dominant retinitis pigmentosa. PLoS One — PubMed:PMID25695253 | DOI:10.1371/journal.pone.0115723 — OMIA Phene_Article / Article - 2004. A naturally occurring mutation of the opsin gene (T4R) in dogs affects glycosylation and stability of the G protein-coupled receptor. J Biol Chem — PubMed:PMID15459196 | DOI:10.1074/jbc.M408472200 — OMIA Phene_Article / Article - 2017. Acute and protracted cell death in light-induced retinal degeneration in the canine model of rhodopsin autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci — PubMed:PMID28114588 | DOI:10.1167/iovs.16-20749 — OMIA Phene_Article / Article - 2018. Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector. Proc Natl Acad Sci U S A — PubMed:PMID30127005 | DOI:10.1073/pnas.1805055115 — OMIA Phene_Article / Article - 2022. Mutations in rhodopsin, endothelin B receptor, and CC chemokine receptor 5 in large animals: Modeling human diseases. Prog Mol Biol Transl Sci — PubMed:PMID35595348 | DOI:10.1016/bs.pmbts.2022.02.003 — OMIA Phene_Article / Article - (7 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:610445 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613731 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:136880 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:180380 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [201]

Bull Terrier — Autosomal dominant polycystic kidney disease (ADPKD); Bull terrier polycystic kidney disease (BTPKD); renal cystic disease (hereditary; OMIA-verified breed predisposition)

Breed: Bull Terrier (Dog) [202]

Disorder: Autosomal dominant polycystic kidney disease (ADPKD); Bull terrier polycystic kidney disease (BTPKD); renal cystic disease [202]

Clin feat: Bull terriers with polycystic kidney disease (PKD) have bilateral renal cysts (Gharahkhani et al., 20211). Clinical features include proteinuria, haematuria and pyuria leading to terminal uraemia, poor body condition and signs of renal failure with middle to old age (O'Leary and Turner, 2004). PKD is usually diagnosed by the ultrasonographic detection of at least 3 cysts across the two kidneys and family history of the disease (O'Leary et al., 1999). Bull terriers with PKD have also shown signs of concurrent heart murmurs, increased prevalence of myxomatous mitral valve disease and more severe left ventricular outflow obstruction (O'Leary and Turner, 2004; O'Leary et al. 2005). [202]

Pathology: Pathology of the kidneys may show enlargement or normal size with irregular shape (O'Leary et al., 2002; O'Leary and Turner, 2004). The cysts are generally present in the cortex and medulla of both kidneys, with some concentration at the corticomedullary junction (O'Leary et al., 2002). The fluid of the cysts is usually clear, straw-coloured, serosanguinous and brown (O'Leary et al., 2002). The cysts are lined by a single layer of squamous or low cuboidal epithelial cells, with transitional epithelium sometimes observed (O'Leary et al., 2002). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: PC1 (Entrez Gene ID 26644260) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 1964. Inherited polycystic mononephrosis in the dog. Journal of Heredity — PubMed:PMID14134073 — OMIA Phene_Article / Article - 1998. Polycystic kidney and liver disease in two related West Highland White Terrier litters. Veterinary Pathology — PubMed:PMID9545140 — OMIA Phene_Article / Article - 1998. A length polymorphism in an intron of the canine polycystic kidney disease 1 gene. Animal Genetics — PubMed:PMID9745674 — OMIA Phene_Article / Article - 1999. Polycystic kidney disease in Bull Terriers: an autosomal dominant inherited disorder. Australian Veterinary Journal — PubMed:PMID10812399 — OMIA Phene_Article / Article - 2002. Canine PKD1 is a single-copy gene: Genomic organization and comparative analysis. Genomics — PubMed:PMID12079289 — OMIA Phene_Article / Article - 2002. Renal pathology of polycystic kidney disease and concurrent hereditary nephritis in Bull Terriers. Australian Veterinary Journal — PubMed:PMID12153062 — OMIA Phene_Article / Article - 2003. No disease-associated mutations found in the coding sequence of the canine polycystic kidney disease gene 1 in Bull Terriers with polycystic kidney disease. Anim Genet — PubMed:PMID14510672 — OMIA Phene_Article / Article - 2005. Auscultation and echocardiographic findings in Bull Terriers with and without polycystic kidney disease. Aust Vet J — PubMed:PMID15957386 — OMIA Phene_Article / Article - 2009. Linkage confirms canine pkd1 orthologue as a candidate for bull terrier polycystic kidney disease. Anim Genet — PubMed:PMID19397527 | DOI:10.1111/j.1365-2052.2009.01863.x — OMIA Phene_Article / Article - 1994. Familial polycystic kidney disease in bull terriers. Journal of Small Animal Practice — OMIA Phene_Article / Article - 2004. Chronic renal failure in an English bull terrier with polycystic kidney disease. J Small Anim Pract — PubMed:PMID15553195 — OMIA Phene_Article / Article - 1980. Polycystic disease of the kidney and liver in the Cairn Terrier. Vet Pathol — PubMed:PMID7385577 — OMIA Phene_Article / Article - (7 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:173900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601313 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [202]

Bull Terrier — Lethal acrodermatitis (hereditary; OMIA-verified breed predisposition)

Disorder: Lethal acrodermatitis [203]

Clin feat: Affected puppies show characteristic skin lesions on the feet and on the face, diarrhea, bronchopneumonia, and a failure to thrive. The skin lesions consist of erythema and tightly adherent scales, erosions or ulcerations with crusts involving primarily the feet, distal limbs, elbows, hocks, and muzzle. Later on, hyperkeratosis of the footpads and deformation of the nails occur. LAD affected dogs also show a coat color dilution in pigmented skin areas. An abnormally arched hard palate impacted with decayed, malodorous food is a characteristic clinical marker for the disease (Jezyk et al. 1986; McEwan, 1990; McEwan et al. 2000). LAD dogs are immunodeficient with a reduction in serum IgA levels and frequently suffer from skin infections with Malassezia or Candida (McEwan et al. 2001; McEwan et al. 2003). Affected puppies typically die before they reach an age of two years, either due to infections such as bronchopneumonia or because they are euthanized when their paw pad lesions become very severe and painful. They grow slower than their non-affected littermates and at the age of one year have about half the body weight and size of an unaffected dog (McEwan et al. 2000). [This summary was copied from Bauer et al. 2018] Although the clinical signs resemble zinc deficiency, it is not clear at all whether the disease has any relation to zinc metabolism (Bauer et al. 2018). Oral supplementation with zinc or intravenous zinc injections did not improve the condition (Jezyk et al. 1986). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388303299 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Baurer et al. (2018) reported that "Whole genome sequencing of an LAD affected dog revealed a splice region variant in the MKLN1 gene that was not present in 191 control genomes (chr14:5,731,405T>G or MKLN1:c.400+3A>C). This variant showed perfect association in a larger combined Bull Terrier/Miniature Bull Terrier cohort of 46 cases and 294 controls. The variant was absent from 462 genetica… Evidence (references) - 1990. Lethal Acrodermatitis of Bull Terriers. Vet Rec — PubMed:PMID2402865 — OMIA Phene_Article / Article - 1997. Serum concentrations of zinc and copper in bull terriers with lethal acrodermatitis and tail-chasing behavior. Am J Vet Res — PubMed:PMID9256960 — OMIA Phene_Article / Article - 2007. Analysis of the liver soluble proteome from bull terriers affected with inherited lethal acrodermatitis. Mol Genet Metab — PubMed:PMID17693109 | DOI:10.1016/j.ymgme.2007.07.003 — OMIA Phene_Article / Article - 2003. Immunoglobulin levels in Bull terriers suffering from lethal acrodermatitis. Vet Immunol Immunopathol — PubMed:PMID14592736 | DOI:10.1016/j.vetimm.2003.08.001 — OMIA Phene_Article / Article - 2001. Malassezia and Candida infections in bull terriers with lethal acrodermatitis. J Small Anim Pract — PubMed:PMID11440398 | DOI:10.1111/j.1748-5827.2001.tb02042.x — OMIA Phene_Article / Article - 2000. Diagnostic features, confirmation and disease progression in 28 cases of lethal acrodermatitis of bull terriers. J Small Anim Pract — PubMed:PMID11105789 | DOI:10.1111/j.1748-5827.2000.tb03972.x — OMIA Phene_Article / Article - 1999. Canine zinc-responsive dermatosis. Vet Clin North Am Small Anim Pract — PubMed:PMID10563006 | DOI:10.1016/s0195-5616(99)50133-2 — OMIA Phene_Article / Article - 1996. What is your diagnosis? Lethal acrodermatitis of English bull terriers. J Small Anim Pract — PubMed:PMID8981276 | DOI:10.1111/j.1748-5827.1996.tb02331.x — OMIA Phene_Article / Article - 1986. Lethal acrodermatitis in bull terriers. J Am Vet Med Assoc — PubMed:PMID3710872 — OMIA Phene_Article / Article - 2018. MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet — PubMed:PMID29565995 | DOI:10.1371/journal.pgen.1007264 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:605623 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [203]

Bull Terrier — similar to Alport syndrome in humans (hereditary; OMIA-verified breed predisposition)

Disorder: similar to Alport syndrome in humans [204]

Summary: The first report of this disorder in dogs was in Bull Terriers, by Hood et al. (1990). The same disorder in Dalmations was reported by Hood et al. (2002) [FN 13 Jan 2003]. For other types of hereditary nephritis see also: 'OMIA001359-9615 Nephritis, autosomal recessive'; 'OMIA001112-9615 Nephritis, x-linked';OMIA000708-9615 Nephritis' and 'OMIA 000413-9615 Glomerulonephritis'. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1990. Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene.. Vet Rec — PubMed:PMID2356601 — OMIA Phene_Article / Article - 1991. Proteinuria as an indicator of early renal disease in bull terriers with hereditary nephritis.. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1995. Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome.. Kidney Int — PubMed:PMID7752574 | DOI:10.1038/ki.1995.116 — OMIA Phene_Article / Article - 2002. A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. Nephrology Dialysis Transplantation — OMIA Phene_Article / Article - 1994. Hereditary nephritis in a miniature bull terrier.. Vet Rec — PubMed:PMID7975107 — OMIA Phene_Article / Article - 2000. Ultrastructural appearance of renal and other basement membranes in the Bull terrier model of autosomal dominant hereditary nephritis.. Am J Kidney Dis — PubMed:PMID10922317 | DOI:10.1053/ajkd.2000.8989 — OMIA Phene_Article / Article - 2002. Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers.. Nephrol Dial Transplant — PubMed:PMID12401844 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome.. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2009. Haplotype sharing excludes orthologous COL4A3, COL4A4 or MYH9 loci in hereditary nephritis in bull terriers.. Anim Genet — PubMed:PMID19133935 | DOI:10.1111/j.1365-2052.2008.01829.x — OMIA Phene_Article / Article - 2005. Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization.. DNA Seq — PubMed:PMID16147883 | DOI:10.1080/10425170500136822 — OMIA Phene_Article / Article - 1990. Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene. Vet Rec — PubMed:PMID2356601 — OMIA Phene_Article / Article - 1991. Proteinuria as an indicator of early renal disease in bull terriers with hereditary nephritis. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1995. Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. Kidney Int — PubMed:PMID7752574 | DOI:10.1038/ki.1995.116 — OMIA Phene_Article / Article - 2002. A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. Nephrology Dialysis Transplantation — OMIA Phene_Article / Article - 1994. Hereditary nephritis in a miniature bull terrier. Vet Rec — PubMed:PMID7975107 — OMIA Phene_Article / Article - 2000. Ultrastructural appearance of renal and other basement membranes in the Bull terrier model of autosomal dominant hereditary nephritis. Am J Kidney Dis — PubMed:PMID10922317 | DOI:10.1053/ajkd.2000.8989 — OMIA Phene_Article / Article - 2002. Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. Nephrol Dial Transplant — PubMed:PMID12401844 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2009. Haplotype sharing excludes orthologous COL4A3, COL4A4 or MYH9 loci in hereditary nephritis in bull terriers. Anim Genet — PubMed:PMID19133935 | DOI:10.1111/j.1365-2052.2008.01829.x — OMIA Phene_Article / Article - 2005. Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization. DNA Seq — PubMed:PMID16147883 | DOI:10.1080/10425170500136822 — OMIA Phene_Article / Article - 1990. Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene. Vet Rec — PubMed:PMID2356601 — OMIA Phene_Article / Article - 1991. Proteinuria as an indicator of early renal disease in bull terriers with hereditary nephritis. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1995. Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. Kidney Int — PubMed:PMID7752574 | DOI:10.1038/ki.1995.116 — OMIA Phene_Article / Article - 2002. A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. Nephrology Dialysis Transplantation — OMIA Phene_Article / Article - 1994. Hereditary nephritis in a miniature bull terrier. Vet Rec — PubMed:PMID7975107 — OMIA Phene_Article / Article - 2000. Ultrastructural appearance of renal and other basement membranes in the Bull terrier model of autosomal dominant hereditary nephritis. Am J Kidney Dis — PubMed:PMID10922317 | DOI:10.1053/ajkd.2000.8989 — OMIA Phene_Article / Article - 2002. Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. Nephrol Dial Transplant — PubMed:PMID12401844 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2009. Haplotype sharing excludes orthologous COL4A3, COL4A4 or MYH9 loci in hereditary nephritis in bull terriers. Anim Genet — PubMed:PMID19133935 | DOI:10.1111/j.1365-2052.2008.01829.x — OMIA Phene_Article / Article - 2005. Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization. DNA Seq — PubMed:PMID16147883 | DOI:10.1080/10425170500136822 — OMIA Phene_Article / Article - 1990. Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene. Vet Rec — PubMed:PMID2356601 — OMIA Phene_Article / Article - 1991. Proteinuria as an indicator of early renal disease in bull terriers with hereditary nephritis. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1995. Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. Kidney Int — PubMed:PMID7752574 | DOI:10.1038/ki.1995.116 — OMIA Phene_Article / Article - 2002. A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. Nephrology Dialysis Transplantation — OMIA Phene_Article / Article - 1994. Hereditary nephritis in a miniature bull terrier. Vet Rec — PubMed:PMID7975107 — OMIA Phene_Article / Article - 2000. Ultrastructural appearance of renal and other basement membranes in the Bull terrier model of autosomal dominant hereditary nephritis. Am J Kidney Dis — PubMed:PMID10922317 | DOI:10.1053/ajkd.2000.8989 — OMIA Phene_Article / Article - 2002. Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. Nephrol Dial Transplant — PubMed:PMID12401844 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2009. Haplotype sharing excludes orthologous COL4A3, COL4A4 or MYH9 loci in hereditary nephritis in bull terriers. Anim Genet — PubMed:PMID19133935 | DOI:10.1111/j.1365-2052.2008.01829.x — OMIA Phene_Article / Article - 2005. Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization. DNA Seq — PubMed:PMID16147883 | DOI:10.1080/10425170500136822 — OMIA Phene_Article / Article - 1990. Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene. Vet Rec — PubMed:PMID2356601 — OMIA Phene_Article / Article - 1991. Proteinuria as an indicator of early renal disease in bull terriers with hereditary nephritis. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1995. Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. Kidney Int — PubMed:PMID7752574 | DOI:10.1038/ki.1995.116 — OMIA Phene_Article / Article - 2002. A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. Nephrology Dialysis Transplantation — OMIA Phene_Article / Article - 1994. Hereditary nephritis in a miniature bull terrier. Vet Rec — PubMed:PMID7975107 — OMIA Phene_Article / Article - 2000. Ultrastructural appearance of renal and other basement membranes in the Bull terrier model of autosomal dominant hereditary nephritis. Am J Kidney Dis — PubMed:PMID10922317 | DOI:10.1053/ajkd.2000.8989 — OMIA Phene_Article / Article - 2002. Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. Nephrol Dial Transplant — PubMed:PMID12401844 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2009. Haplotype sharing excludes orthologous COL4A3, COL4A4 or MYH9 loci in hereditary nephritis in bull terriers. Anim Genet — PubMed:PMID19133935 | DOI:10.1111/j.1365-2052.2008.01829.x — OMIA Phene_Article / Article - 2005. Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization. DNA Seq — PubMed:PMID16147883 | DOI:10.1080/10425170500136822 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:104200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [204]

Bulldog — Canine atopic dermatitis (CAD) (hereditary; OMIA-verified breed predisposition)

Breed: Bulldog (Dog) [185]

Cairn Terrier — Autosomal dominant polycystic kidney disease (ADPKD); Bull terrier polycystic kidney disease (BTPKD); renal cystic disease (hereditary; OMIA-verified breed predisposition)

Breed: Cairn Terrier (Dog) [202]

Cairn Terrier — Gallbladder mucoceles (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: Mealey et al. (2010) initially proposed a dominant mode of inheritance with incomplete penetrance in Shetland Sheepdogs, based on the incomplete association between a proposed likely causal variant and disease phenotype. The authors acknowledged that further research is required. In a follow up study by Cullen et al. (2014) a multifactorial mode of inheritance as well as non-inherited etiology are discussed. [205]

Clin feat: GBM is an extrahepatic disease characterised by abnormal, intraluminal accumulation of mucus or thickened bile within the gallbladder. GBM commonly predisposes the animal to secondary gallbladder rupture, systemic infection, and extrahepatic biliary duct obstruction. Therefore, serum biochemistry often shows increased liver enzymes (AST, ALT) indicative of liver damage, hyperbilirubinemia, and leucocytosis in haematology. Common non-specific clinical signs include vomiting, lethargy, abdominal pain, anorexia, icterus, tachypnoea, polyuria-polydipsia, pyrexia, diarrhoea, and abdominal distention (Smalle, Cahalane Köster, 2015). Chronic GBM progressing to ruptured gallbladders often present with more severe clinical signs of marked abdominal pain, jaundice, and pyrexia (Jaffey et al., 2019). [205]

Pathology: Distended gallbladder filled with mucus or bile is commonly the gross pathological findings of GBM. On the thickened inner mucosal surface of the gallbladder, GBM often presents as diffused, abundant, variably sized cystic structures filled with copious amounts of tenacious viscoelastic mucin. Histopathologically, hyperplastic tall columnar epithelial cells with abundant apical cytoplasmic mucus interspersed with scants amounts of bile within the gallbladder wall and bile duct are common (Mealey et al., 2010). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 23857841 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2007. Gallbladder disease in Shetland Sheepdogs: 38 cases (1995-2005). J Am Vet Med Assoc — PubMed:PMID17605668 | DOI:10.2460/javma.231.1.79 — OMIA Phene_Article / Article - 2004. Gallbladder mucocele in dogs: 30 cases (2000-2002). J Am Vet Med Assoc — PubMed:PMID15230443 | DOI:10.2460/javma.2004.224.1615 — OMIA Phene_Article / Article - 2010. An insertion mutation in ABCB4 is associated with gallbladder mucocele formation in dogs. Comp Hepatol — PubMed:PMID20598156 | DOI:10.1186/1476-5926-9-6 — OMIA Phene_Article / Article - 2015. Gallbladder mucocoele: A review. J S Afr Vet Assoc — PubMed:PMID26824341 | DOI:10.4102/jsava.v86i1.1318 — OMIA Phene_Article / Article - 2014. Lack of association of ABCB4 insertion mutation with gallbladder mucoceles in dogs. J Vet Diagn Invest — PubMed:PMID24760133 | DOI:10.1177/1040638714532099 — OMIA Phene_Article / Article - 2019. Effect of clinical signs, endocrinopathies, timing of surgery, hyperlipidemia, and hyperbilirubinemia on outcome in dogs with gallbladder mucocele. Vet J — PubMed:PMID31492387 | DOI:10.1016/j.tvjl.2019.105350 — OMIA Phene_Article / Article - 2004. Surgical management of gallbladder mucoceles in dogs: 22 cases (1999-2003). J Am Vet Med Assoc — PubMed:PMID15552319 | DOI:10.2460/javma.2004.225.1418 — OMIA Phene_Article / Article - 2009. Gall bladder mucoceles and their association with endocrinopathies in dogs: a retrospective case-control study. J Small Anim Pract — PubMed:PMID19954439 | DOI:10.1111/j.1748-5827.2009.00811.x — OMIA Phene_Article / Article - 2025. Diagnosis and management of gallbladder mucocele formation in dogs. J Am Vet Med Assoc — PubMed:PMID40107232 | DOI:10.2460/javma.24.12.0789 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600803 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:171060 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [205]

Canaan Dog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Canaan Dog (Dog) [68]

Cardigan Welsh Corgi — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Cardigan Welsh Corgi (Dog) [68]

Cardigan Welsh Corgi — epidermolysis bullosa simplex, split paw pad disease (hereditary; OMIA-verified breed predisposition)

Disorder: epidermolysis bullosa simplex, split paw pad disease [206]

Clin feat: The severity of the clinical phenotype depends on the specific KRT5 variant. Kiener et al. (2022) examined a Cardigan Welsh Corgi puppy [heterozygous for p.E476K] with skin blistering and erosions that were noticed shortly after birth. It was one of a litter of three puppies, in which both other littermates and the parents were healthy. The affected dog was smaller than the littermates. Vesicles and ulcers were extensively present in the oral cavity, lips and paw pads.... Gentle pressure on the skin near affected areas would result in sloughing of the adjacent epidermis (positive Nikolsky sign;.). The puppy was given supplementary nutrition and adopted by a veterinarian at 10 weeks of age. At that time, the lesions in the oral cavity had healed and the dog was able to eat normally. The dog continued to have waxing and waning lesions on the paw pads, ears, axilla and groin. Blisters would arise intermittently, ulcerate and heal with scarring. Rietmann et al. (2024) studied a family of German Shepherd dogs, in which four dogs developed intermittent paw pad lesions and lameness. The clinical phenotype in German Shepherd dogs with the p.Asn330_Asp335del variant was restricted to the paw pad epidermis and less severe than the phenotype in Cardigan Welsh Corgi with the p.E476K variant. [206]

Pathology: Kiener et al. (2022): At 1 year of age, four skin punch biopsies from lesional areas were obtained under general anesthesia. Histopathologic examination revealed intact subepidermal vesicles along with ulcers, granulation tissue and regions of dermal scarring. Small remnants of basal keratinocytes were evident at the margins of the vesicles and scattered basal keratinocytes were apoptotic. The dog was still alive at 17 months of age (at the time of writing this paper). Rietmann et al. (2024): The paw pads of two of the affected [German Shepherd] dogs [with split paw pad disease] were biopsied and demonstrated cleft formation in the stratum spinosum and stratum corneum, the outermost layers of the epidermis. This finding was unexpected as human patients with KRT5-related EBS show split formation at the basal layer of the epidermis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389417605 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Kiener et al. (2022) "obtained whole genome sequencing data from . . . [an] affected puppy and searched for variants in candidate genes known to cause EB. This revealed a heterozygous missense variant, KRT5:p.(E476K), affecting the highly conserved KLLEGE motif of keratin 5. The mutant allele in the affected puppy arose owing to a de novo mutation event as it was absent from both unaffected parent… Evidence (references) - 2020. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol — PubMed:PMID32017015 | DOI:10.1111/bjd.18921 — OMIA Phene_Article / Article - 2022. KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex. Anim Genet — PubMed:PMID36004757 | DOI:10.1111/age.13257 — OMIA Phene_Article / Article - 2024. KRT5 in-frame deletion in a family of German Shepherd dogs with split paw pad disease resembling localized epidermolysis bullosa simplex in human patients. Anim Genet — PubMed:PMID38742646 | DOI:10.1111/age.13444 — OMIA Phene_Article / Article - 2015. Complete structure of an epithelial keratin dimer: Implications for intermediate filament assembly. PLoS One — PubMed:PMID26181054 | DOI:10.1371/journal.pone.0132706 — OMIA Phene_Article / Article - 2012. Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath. J Invest Dermatol — PubMed:PMID22277943 | DOI:10.1038/jid.2011.450 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:131760 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:131900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601001 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:131800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:131960 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609352 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:148040 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [206]

Catahoula Leopard Dog — Congenital sensorineural deafness (hereditary; OMIA-verified breed predisposition)

Breed: Catahoula Leopard Dog (Dog) [106]

Cavalier King Charles Spaniel — Also known as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Cavalier King Charles Spaniel (Dog) [207]

Disorder: Also known as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency [207]

Clin feat: Christen et al. (2022): A male neutered CKCS, born out of reportedly healthy parents, was presented at the age of 1.5 years, with an acute history of suspected complex focal seizures including prolonged lethargy, being less responsive and proprioceptive ataxia. These episodes initially occurred several times a week, lasting from 20 min to multiple hours during which the dog was mainly lethargic. The dog was started on anticonvulsant medication, which did not result in complete suppression of the seizures. After diagnosis of MCAD deficiency,.the dog was prescribed a low-fat diet and a midnight snack consisting of carbohydrates. Prolonged periods of fasting and formulas that contained medium-chain triglycerides as primary source of fat were also advised to avoid. This management protocol correlated with a complete resolution of clinical signs for the following 6 months. The anticonvulsant medication was therefore reduced to subtherapeutic levels. However, this was reversed as the dose reduction resulted in an increase in seizure frequency.. At the time of writing, the dog has been stable for 9 months on 25 mg/kg levetiracetam three times a day, 3 mg/kg phenobarbital twice a day and a low-fat diet, with no further major seizures and a repeated normal neurological examination. Christen et al. (2022) noted that the clinical genotype-phenotype correlation remains unclear. While the ACADM variant causes the biochemical alteration in the blood acylcarnitine profiles, it is not fully clear whether the MCAD deficiency is also the (only) cause of the clinical signs of the studied patient. Christen et al. (2022) wrote: MCAD deficiency in dogs seemingly does not clinically manifest as severe as in humans. However, our data show a clear increase in MCFAs in ACADM homozygous mutant dogs. This might point to an additional compensatory mechanism in the dog, which prevents or dampens the manifestation of clinical consequences of elevated MCFAs. In humans, phenotypic diversity ranging from sudden neonatal death to asymptomatic status has previously been reported. Human patients with complete loss of MCAD activity can also remain asymptomatic, suggesting that additional genetic or environmental factors may play a role in the phenotypic diversity. Additional genetic or environmental factors are also likely to modulate the phenotype in MCAD deficient dogs. The improvement of clinical signs upon changing to a low-fat diet in our index case indicates that the diet has a major influence on the clinical phenotype. At this time, we cannot exclude the possibility that additional genetic factors also modified the clinical phenotype. While our data conclusively demonstrate that the ACADM frameshift variant causes MCAD deficiency and the biochemical alterations in the lipid metabolism, it is not yet fully clear whether the MCAD deficiency alone is responsible for the clinical phenotype or whether additional environmental and/or genetic risk factors are required for the expression of clinical signs. The identification of the ACADM frameshift variant enables genetic testing for MCAD deficiency and will facilitate future prospective studies to clarify this important question. [207]

Prevalence: Christen et al. (2022): Targeted genotyping of the variant in 162 additional CKCS revealed a variant allele frequency of 23.5% and twelve additional homozygous mutant dogs. [207]

Control: Christen et al. (2022): Testing the CKCS breeding population for the identified ACADM variant is recommended to prevent the unintentional breeding of dogs with MCAD deficiency. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388254719 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Christen et al. (2022) "sequenced the genome of the affected dog and compared the data to 923 control genomes of different dog breeds. The ACADM gene encoding MCAD was considered the top functional candidate gene. The genetic analysis revealed a single homozygous private protein-changing variant in ACADM in the affected dog. This variant, XM_038541645.1:c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTAT… Evidence (references) - 2022. ACADM frameshift variant in Cavalier King Charles Spaniels with medium-chain acyl-CoA dehydrogenase deficiency. Genes (Basel) — PubMed:PMID36292732 | DOI:10.3390/genes13101847 — OMIA Phene_Article / Article - 2007. Refractory seizures associated with an organic aciduria in a dog. J Am Anim Hosp Assoc — PubMed:PMID17473023 | DOI:10.5326/0430163 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:607008 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:201450 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [207]

Cavalier King Charles Spaniel — Dry eye curly coat syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Dry eye curly coat syndrome [208]

Clin feat: CKCSID presents as a combination of two primary disease processes: Keratoconjunctivitis sicca: Decreased tear production leads to drying of the surface of the eye. Common signs include redness in one or both eyes, with a thick mucoid discharge. Chronic dry eyeball surfaces often predisposes to corneal ulceration and further painful secondary bacterial conjunctivitis (Barnett, 2006). Ichythyosiform dermatosis: Typically presents as a rough and curly coat with possible multifocal alopecia. The epidermis is generally dry, scale-like, and flakes off, particularly around the dorsal spine and lateral flankregion. The abdominal venter may be hyperpigmented, whilst the footpads typically show signs of hyperkeratinization. The nails may present with marked growth abnormalities (Hartley et al., 2012). [208]

Pathology: Keratoconjunctivitis sicca develops as a result of decreased aqueous tear production and mucin secretion, leading to progressive loss of the precorneal tear film (PTF) This predisposes it to damage and infection. The exact pathway is poorly understood, but is thought to be due to a neurofunctional abnormality in the lacrimal glands of affected dogs. Dryness and the loss of the tear film leads to profound irritation, diffuse hyperaemia and predisposes secondary conjunctivitis (Hartley et al., 2012). Ichythyosiform dermatosis is characterized as a cutaneous scaling and hyperkeratinization disorder. It develops due to an abnormal rate of cell turnover in outer layer of epidermis, the stratum corneum. Hyperplastic dysregulation of these cells culminates in a loss of the epithelial ‘brick and mortar’ structure. This increased cellular turnover leads to progressive drying and flaking of exterior layers which is exacerbated by increased lipid deposition and further inflammatory mediators (Mauldin, 2013). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 180373696 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing their candidate region (see Mapping section) in affected and normal dogs, Forman et al. (2012) eventually revealed the causative mutation as a "single base deletion in exon 5" in a gene with the somewhat unusual name of Family with sequence similarity 83, member H (FAM83H). Using the genetic variant nomenclature as of 2015, the cuastaive variant can be descripted as c.977delC or p.Pr… Evidence (references) - 2012. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs. Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol — PubMed:PMID22212237 | DOI:10.1111/j.1463-5224.2011.00986.x — OMIA Phene_Article / Article - 2006. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract — PubMed:PMID16961470 | DOI:10.1111/j.1748-5827.2006.00107.x — OMIA Phene_Article / Article - 2012. Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS Genet — PubMed:PMID22253609 | DOI:10.1371/journal.pgen.1002462 — OMIA Phene_Article / Article - 2012. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in Cavalier King Charles spaniel dogs. Part II: candidate gene study. Vet Ophthalmol — PubMed:PMID22339941 | DOI:10.1111/j.1463-5224.2012.00987.x — OMIA Phene_Article / Article - 2017. Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy. Vet Ophthalmol — PubMed:PMID29284193 | DOI:10.1111/vop.12542 — OMIA Phene_Article / Article - 2019. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One — PubMed:PMID30650096 | DOI:10.1371/journal.pone.0209864 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2020. Aust Vet Pract — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:611927 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [208]

Cavalier King Charles Spaniel — Immunodeficiency, CARMIL2-related (hereditary; OMIA-verified breed predisposition)

Summary: Coffey et al. (2024) report the discovery of a CARMIL2 nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP [Pneumocystis pneumonia] (n = 2) or refractory Bordetella pneumonia (n = 1).. Deleterious CARMIL2 variants have recently been reported in human patients with PCP and other recurrent pneumonias. In addition to opportunistic respiratory infection, the affected dogs also exhibited other clinical manifestations of CARMIL2 deficiencies that have been reported in humans, including early-onset gastrointestinal disease, allergic skin disease, mucocutaneous lesions, abscesses, autoimmune disorders, and gastrointestinal parasitism. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298878 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2024. A novel CARMIL2 immunodeficiency identified in a subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella pneumonia. J Fungi (Basel) — PubMed:PMID38535207 | DOI:10.3390/jof10030198 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610859 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618131 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [209]

Cavalier King Charles Spaniel — Xanthine urolithiasis; xanthine nephrolithiasis (hereditary; OMIA-verified breed predisposition)

Disorder: Xanthine urolithiasis; xanthine nephrolithiasis [210]

Clin feat: In affected dogs with MOCOS deficiency excess xanthine builds up in the urine, a product which has a low solubility and readily precipitates out of urine, creating xanthine calculi (Furrow et al., 2016). These calculi act similar to most uroliths, creating partial or complete urethral obstruction, resulting in intermittent or consistent stranguria and dysuria, and may result in secondary renal damage (Furrow et al., 2016). In the dogs investigated by Tate et al. (2021) age at first diagnosis ranged from 7 weeks to 4 years. [210]

Prevalence: The allele frequency of the MOCOS c.232G T (p.Gly78Cys) variant was 0,13 and 0,10 in 386 Manchester Terriers and 285 English Toy Terriers, respectively. The allele frequency of the MOCOS c.383delC variant was 0.03 and 0 in 109 Cavalier King Charles Spaniels and 42 English Cocker Spaniels, respectively. The MOCOS c.137 T C variant was absent from a population of 116 Dachshunds. (Tate et al., 2021) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388254904 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1997. Bilateral xanthine nephrolithiasis in a dog. J Small Anim Pract — PubMed:PMID9239633 | DOI:10.1111/j.1748-5827.1997.tb03471.x — OMIA Phene_Article / Article - 1996. Xanthinuria (xanthine oxidase deficiency) in two Cavalier King Charles spaniels. Veterinary Quarterly — OMIA Phene_Article / Article - 1997. Xanthinuria in a family of Cavalier King Charles spaniels. Vet Q — PubMed:PMID9413115 | DOI:10.1080/01652176.1997.9694766 — OMIA Phene_Article / Article - 1998. Xanthine urolithiasis in a dachshund. Vet Rec — PubMed:PMID9807792 | DOI:10.1136/vr.143.15.420 — OMIA Phene_Article / Article - 2013. Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels. J Small Anim Pract — PubMed:PMID23859747 | DOI:10.1111/jsap.12106 — OMIA Phene_Article / Article - 2016. 2016 ACVIM Forum Research Report Program: Three diverse mutations underlying canine xanthine urolithiasis. J Vet Intern Med — DOI:10.1111/jvim.13963 — OMIA Phene_Article / Article - 1969. [Xanthine urinary lithiasis and xanthinuria in a dachshund. Deficiency, probably genetic, of the xanthine oxidase system]. C R Acad Hebd Seances Acad Sci D — PubMed:PMID4982510 — OMIA Phene_Article / Article - 2021. Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs. Mol Genet Metab Rep — PubMed:PMID34584846 | DOI:10.1016/j.ymgmr.2021.100792 — OMIA Phene_Article / Article - 2011. Xanthine urolithiasis in a Cavalier King Charles spaniel. Vet Rec — PubMed:PMID21742684 | DOI:10.1136/vr.d3932 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:603592 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613274 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [210]

Cavalier King Charles Spaniel — also called: episodic falling syndrome, episodic hypertonicity, hyperekplexia, muscle hypertonicity, paroxysmal exercise-induced dystonia, dyskinesia (hereditary; OMIA-verified breed predisposition)

Disorder: also called: episodic falling syndrome, episodic hypertonicity, hyperekplexia, muscle hypertonicity, paroxysmal exercise-induced dystonia, dyskinesia [211]

Clin feat: Episodic falling syndrome (EFS) in Cavalier King Charles Spaniels is characterised by episodes of ascending hypertonicity affecting the thoracic and pelvic limbs (Gill et al., 2012). Onset of the disease is between 14 weeks and 4 years of age, with varying frequency and severity (Gill et al., 2012). During an episode the dog is ultimately immobilised in a distinctive “deer-stalking” or “praying” position (Gill et al., 2012) and usually recovery of limb function takes 10 minutes (Wright et al., 1987). These episodes can be triggered by exercise, stress, apprehension, or excitement (Herrtage & Palmer, 1983). During exercise, the dogs fall while maintaining consciousness and without cyanosis (Gill et al., 2012). Facial muscle stiffening, stumbling, “bunny-hopping” gait, arching of the back or vocalisation may also be observed (Gill et al., 2012). Dogs present completely normal neurologically between the episodes (Herrtage and Palmer, 1983; Gill et al., 2012). [211]

Pathology: Gill et al., 2012 report that brevican has an essential role in the formation of perineuronal nets governing synapse stability and nerve conduction velocity. Mutations in this gene could therefore explain the observed EFS phenotype. EFS muscle usually appears normal under light microscopy, allowing exclusion of many congenital myopathies (Wright et al., 1987; Gill et al., 2012). Electron microscopy revealed dilation of the sarcoplasmic reticulum with finely granular material (Wright et al., 1987). Some dogs appeared to have completely normal mitochondria. However, in other dogs, there was selective damage such that some swollen mitochondria were interspersed between normal ones. The authors also noted proliferation of tubular structures as the predominant feature in some dogs. Gill et al. (2012) observed only swollen sarcoplasmic reticulum in muscle samples under electron microscopy, and considered this as a secondary change due to muscle overstimulation, further suggesting a CNS basis of the pathology. [211]

Gen test: A DNA test for this disorder in Cavalier King Charles Spaniels was discovered by geneticists at the Animal Health Trustin early 2011, and is available from the Trust. Their discovery was reported by Forman et al. (2012). As described under Molecular basis, another research group independently discovered and published a causal mutation in 2012. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 13003115 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing the most likely positional candidate gene in the candidate region they had identified (see Mapping section), Gill et al. (2012) reported that this disorder in Cavalier King Charles Spaniels is due to a 15.7kb deletion in the BCAN gene, which encodes brain-specific extracellular matrix proteoglycan brevican. By sequencing 5 affected dogs within their candidate region (see Mapping sect… Evidence (references) - 1983. Episodic falling in the cavalier King Charles spaniel. Vet Rec — PubMed:PMID6868317 | DOI:10.1136/vr.112.19.458 — OMIA Phene_Article / Article - 2012. A canine BCAN microdeletion associated with episodic falling syndrome. Neurobiol Dis — PubMed:PMID21821125 | DOI:10.1016/j.nbd.2011.07.014 — OMIA Phene_Article / Article - 2012. Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS Genet — PubMed:PMID22253609 | DOI:10.1371/journal.pgen.1002462 — OMIA Phene_Article / Article - 2019. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One — PubMed:PMID30650096 | DOI:10.1371/journal.pone.0209864 — OMIA Phene_Article / Article - 2014. Canine paroxysmal movement disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID25441627 | DOI:10.1016/j.cvsm.2014.07.006 — OMIA Phene_Article / Article - 1987. A myopathy associated with muscle hypertonicity in the Cavalier King Charles Spaniel. J Comp Pathol — PubMed:PMID3680644 | DOI:10.1016/0021-9975(87)90006-5 — OMIA Phene_Article / Article - 1986. Muscle hypertonicity in the cavalier King Charles spaniel--myopathic features. Vet Rec — PubMed:PMID3716135 | DOI:10.1136/vr.118.18.511 — OMIA Phene_Article / Article - 2005. Neurological diseases of the Cavalier King Charles spaniel. J Small Anim Pract — PubMed:PMID15971896 | DOI:10.1111/j.1748-5827.2005.tb00319.x — OMIA Phene_Article / Article - 2022. Dystonia in veterinary neurology. J Vet Intern Med — PubMed:PMID36086931 | DOI:10.1111/jvim.16532 — OMIA Phene_Article / Article - 2024. Canine paroxysmal dyskinesia-a review. Front Vet Sci — PubMed:PMID39119350 | DOI:10.3389/fvets.2024.1441332 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600347 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [211]

Chesapeake Bay Retriever — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Chesapeake Bay Retriever (Dog) [68]

Chesapeake Bay Retriever — Ectodermal dysplasia/skin fragility syndrome, PKP1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: As reported by Olivry et al. (2012), In all affected dogs, clinical signs occurred immediately after birth with spontaneous sloughing of the nose and footpad epithelium and bleeding of the ear tips if traumatized. Within 48 hours of birth, the lips and facial superficial skin layers also sloughed when rubbed dry or licked by the mother. Three dogs were kept alive by their breeder for three months; all exhibited waxing and waning superficial skin sloughing with erosions and fissures at areas of friction (axillae, groin, caudal tarsi, footpads), concave ear pinnae and mucocutaneous junctions (nasal planum, philtrum, lips, periocular area). [212]

Prevalence: This variant has also been detected during routine genetic testing, in Golden Retrievers (Frank Coopman, pers. comm., 2017) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388302952 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Extensive and detailed clinical, histological, electron micrographical and protein immunomapping investigations (the latter showing a lack of plakophilin-1 (PKP1) in affected dogs) by Olivry et al. (2012) suggested a strong candidate gene. Sequencing of the exons and exon-intron junctions of the canine PKP1 gene revealed a causative mutation: "a G-to-C conversion at the IVS1 splice donor site of t… Evidence (references) - 2012. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One — PubMed:PMID22384142 | DOI:10.1371/journal.pone.0032072 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:604536 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601975 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [212]

Chesapeake Bay Retriever — MPS VI (hereditary; OMIA-verified breed predisposition)

Disorder: MPS VI [213]

Prevalence: Raj et al. (2020): Over the past 17 years, a total of 425 Miniature Pinschers and two mixed‐breed dogs from the USA, Canada and UK were genotyped; of them 18 (4.2%) were homozygous for the missense variant [c.910G>A], including two mixed‐breed dogs, 78 (18.3%) were heterozygous and 331 (77.5%) were homozygous for the wt allele. All of the genotyped Miniature Pinschers that had clinical signs consistent with MPS VI were homozygous for the missense variant.... Whereas the Miniature Pinscher variant seemed to occur commonly (0.133 allele frequency), the Miniature Schnauzer variant was presumed to be rare Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26646828 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in other species), Berman et al. (2004) were the first to report a molecular basis of this disorder, as follows: "When the DNA coding sequence from miniature pinschers affected with MPS VI was compared to the normal canine sequence, a single missense mutation (G to A) was identified. This mutation,… Evidence (references) - 1995. Clinical vignette. Mucopolysaccharidosis VI in a miniature pinscher. J Vet Intern Med — PubMed:PMID8558492 — OMIA Phene_Article / Article - 2004. Mucopolysaccharidosis type VI in miniature pinschers: Screening for the mutation. Journal of Veterinary Internal Medicine — OMIA Phene_Article / Article - 2012. Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J — PubMed:PMID22329490 | DOI:10.1080/00480169.2011.642791 — OMIA Phene_Article / Article - 2012. Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol — PubMed:PMID23121383 | DOI:10.1111/j.1939-165x.2012.00485.x — OMIA Phene_Article / Article - 2015. Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. Can Vet J — PubMed:PMID25750448 — OMIA Phene_Article / Article - 2018. Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. Vet Pathol — PubMed:PMID29157190 | DOI:10.1177/0300985817732115 — OMIA Phene_Article / Article - 2004. Mucopolysaccharidosis type VI caused by a point mutation in the miniature Pinscher and a deletion in the miniature Schnauzer [abstract]. 2nd International Conference on Advances in Canine & Feline Genomics. Utrecht, The Netherlands — OMIA Phene_Article / Article - 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article - 2020. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs. Anim Genet — PubMed:PMID32985704 | DOI:10.1111/age.13005 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:253200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611542 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [213]

Chihuahua — Bilateral anterior amelia (BAA) (hereditary; OMIA-verified breed predisposition)

Breed: Chihuahua (Dog) [214]

Disorder: Bilateral anterior amelia (BAA) [214]

Clin feat: Chevallier et al. (2025): All the [13 affected] the dogs. were Chihuahua-like (n = 6) or mixed-breed Chihuahuas (n = 7) born with no forelimbs.. They all had a scapula on both sides and presented a residual fragment of the humerus engaged in the glenoid cavity that varied in length.. All of them were missing all bones distal to the humerus. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 23857650 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Chevallier et al. (2025): "Six affected Chihuahuas were whole genome sequenced (WGS) and aligned to the CanFam4 assembly. ... Whole genome sequencing identified three single nucleotide variants [NC_049234.1:g.8891861C > T; NC_049234.1:g.8974204C > T and NC_049234.1:g.9789424G > A] associated with the phenotype. Homozygosity for the variants was observed in 12 out of 13 affected dogs, sugg… Evidence (references) - 1982. An autosomal recessive form of hemimelia in dogs. Vet Rec — PubMed:PMID7186700 | DOI:10.1136/vr.110.6.128 — OMIA Phene_Article / Article - 2025. The RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas. Mamm Genome — PubMed:PMID40131457 | DOI:10.1007/s00335-025-10123-1 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:618021 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610575 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618022 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [214]

Chihuahua — Epidermolytic hyperkeratosis; epidermolytic ichthyosis (hereditary; OMIA-verified breed predisposition)

Disorder: Epidermolytic hyperkeratosis; epidermolytic ichthyosis [215]

Summary: This disorder is a form of ichthyosis. [215]

Clin feat: Adult [Norfolk Terrier] dogs with the disease had generalized, pigmented hyperkeratosis with epidermal fragility. (Credille et al., 2005) Kiener et al. (2023) investigated an 11-month-old male Chihuahua. with severe skin lesions gradually progressing from 5 months of age. Clinical examination revealed severe, multifocal hyperkeratosis, mainly affecting paw pads, axillas and the skin around the anus, lips and eyes.. [215]

Pathology: Light microscopic examination defined epidermolysis with hyperkeratosis; ultrastructural changes included a decrease in tonofilaments and abnormal filament aggregation in upper spinous and granular layer keratinocytes. (Credille et al., 2005) Kiener et al. (2023) reported marked epidermal hyperplasia and orthokeratotic hyperkeratosis with hypergranulosis, forming papillary projections on the skin surface in skin biopsies of an affected Chihuahua. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: CK-10 (Entrez Gene ID 26593276) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Credille et al. (2005) documented the molecular basis of this disorder in a family of Norfolk terrier dogs: "Affected dogs were homozygous for a single base GT>TT change in the consensus donor splice site of intron 5 in [the gene for keratin 10] KRT10. . . . . The mutation caused activat… Evidence (references) - 2005. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol — PubMed:PMID16029326 | DOI:10.1111/j.1365-2133.2005.06735.x — OMIA Phene_Article / Article - 2000. Epidermolytic ichthyosis in a dog: clinical, histopathological, immunohistochemical and ultrastructural findings. J Comp Pathol — PubMed:PMID10805985 | DOI:10.1053/jcpa.1999.0371 — OMIA Phene_Article / Article - 2004. A heritable keratinization defect of the superficial epidermis in Norfolk terriers. J Comp Pathol — PubMed:PMID15053927 | DOI:10.1016/j.jcpa.2003.11.003 — OMIA Phene_Article / Article - 2005. Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs. Exp Dermatol — PubMed:PMID15946235 | DOI:10.1111/j.0906-6705.2005.00306.x — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2022. Inheritance of monogenic hereditary skin disease and related canine breeds. Vet Sci — PubMed:PMID36006348 | DOI:10.3390/vetsci9080433 — OMIA Phene_Article / Article - 2023. Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis. Anim Genet — PubMed:PMID37332248 | DOI:10.1111/age.13341 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2021. Ichthyosis in dogs—Congenital dermatologic disorder. Folia Veterinaria — DOI:doi.org/10.2478/fv-2021-0024 — OMIA Phene_Article / Article - 2026. Development of cost-effective PCR-RFLP methods for screening Mendelian disorders in Chihuahua dogs. F.U. Vet. J. Health Sci. — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:113800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609165 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607602 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:148080 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [215]

Chihuahua — Ichthyosis, ALOXE3-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Vinberg et al. (2025) investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic. [216]

Pathology: Vinberg et al. (2025) reported histopathological findings in skin biopsies of an affected Chihuahua which showed markedly increased amounts of keratin in the stratum corneum (marked lamellar orthokeratotic hyperkeratosis), with keratin lifting and flaking, explaining the clinical scaling.. Mildly increased amounts of keratin in the infundibular hair follicle lumen were also observed (infundibular hyperkeratosis). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299051 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Vinberg et al. (2025) "sequenced the genome of the affected [Chihuahua] dog and compared the data to 1567 control genomes. Filtering for private variants identified a homozygous missense variant in ALOXE3, XP_038392720.1:p.(Gly460Asp). ALOXE3 is a known candidate gene for ichthyosis in humans and encodes arachidonate epidermal lipoxygenase 3." Evidence (references) - 2025. ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. Anim Genet — PubMed:PMID41057024 | DOI:10.1111/age.70055 — OMIA Phene_Article / Article - 2026. Development of cost-effective PCR-RFLP methods for screening Mendelian disorders in Chihuahua dogs. F.U. Vet. J. Health Sci. — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:607206 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606545 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [216]

Chihuahua — Ichthyosis, non-epidermolytic, SDR9C7-related (hereditary; OMIA-verified breed predisposition)

Summary: Kiener et al. (2023) investigated a 9-month-old Chihuahua showing excessive scale formation. Clinical and histopathological examinations revealed non-epidermolytic ichthyosis and a genetic defect was suspected. [The authors] therefore sequenced the genome of the affected dog and compared the data with 564 genetically diverse control genomes. Filtering for private variants identified a homozygous missense variant in SDR9C7, c.454CT or p.(Arg152Trp). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248456 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2023. SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis. Anim Genet — PubMed:PMID36967672 | DOI:10.1111/age.13319 — OMIA Phene_Article / Article - 2026. Development of cost-effective PCR-RFLP methods for screening Mendelian disorders in Chihuahua dogs. F.U. Vet. J. Health Sci. — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:609769 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617574 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [217]

Chihuahua — Leigh syndrome, NDUFS7-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Christen et al. (2024): Two Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome were investigated. The dogs presented with progressive ataxia, dystonia, and increased lactate levels. Disease onset was at ~4 months of age and the two dogs were euthanized at ~6 months of age due to the severity of their clinical phenotype. [218]

Pathology: Christen et al. (2024): Brain MRI showed characteristic bilateral symmetrical T2 hyperintense lesions, histologically representing encephalomalacia. Muscle histopathology revealed variability in myofiber size and some accumulations of mitochondria. Ragged red fibers were not obvious. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298884 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Christen et al. (2024): "Whole genome sequencing [of an affected Jack-Russell Terrier × Chihuahua cross] identified a missense variant in a gene associated with human Leigh syndrome, NDUFS7:c.535G>A or p.(Val179Met). The genotypes at the variant co-segregated with the phenotype in the investigated litter as expected for a monogenic autosomal recessive mode of inheritance. [The authors]… Evidence (references) - 2024. NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Sci Rep — PubMed:PMID38316835 | DOI:10.1038/s41598-024-53314-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601825 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:256000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [218]

Chihuahua — classical Ehlers-Danlos syndrome (cEDS), COL5A2-related; Ehlers-Danlos syndrome, classic type, 2 (hereditary; OMIA-verified breed predisposition)

Disorder: classical Ehlers-Danlos syndrome (cEDS), COL5A2-related; Ehlers-Danlos syndrome, classic type, 2 [219]

Clin feat: Kiener et al. (2022): An 18-month-old spayed female Chihuahua was referred to the dermatology consultation for suspicion of EDS. The first clinical signs were noted on both eyes during puppyhood, at which time the dog was presented to the ophthalmologist with a diagnosis of corneal endothelial dystrophy. Moreover, its skin was hyperextensible... and abnormalities were noted on the face around the eyes and on the extremities where the skin was fragile and tore easily after scratching or rubbing.... Several episodes of wounds on the trunk after minor injuries or scratching were also reported. [219]

Pathology: Kiener et al. (2022): Histopathological examination showed a marked reduction in dermis thickness.... The density of collagen fibers was markedly reduced giving a loose appearance of the dermis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246732 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Kiener et al. (2022): "Whole-genome sequencing [of the affected Chihuahua] identified a heterozygous de novo 27 bp deletion in the COL5A2 gene, COL5A2:c.3388_3414del. The in-frame deletion is predicted to remove 9 amino acids in the triple-helical region of COL5A2." Evidence (references) - 2022. A COL5A2 in-frame deletion in a Chihuahua with Ehlers-Danlos syndrome. Genes (Basel) — PubMed:PMID35627319 | DOI:10.3390/genes13050934 — OMIA Phene_Article / Article - 2020. The Ehlers-Danlos syndromes. Nat Rev Dis Primers — PubMed:PMID32732924 | DOI:10.1038/s41572-020-0194-9 — OMIA Phene_Article / Article - 2026. Development of cost-effective PCR-RFLP methods for screening Mendelian disorders in Chihuahua dogs. F.U. Vet. J. Health Sci. — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:130010 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120190 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [219]

Chinese Crested — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Chinese Crested (Dog) [68]

Chinese Crested — Canine ectodermal dysplasia (hereditary; OMIA-verified breed predisposition)

Disorder: Canine ectodermal dysplasia [220]

Summary: Canine ectodermal dysplasia is characterized by hairlessness and missing or abnormally shaped teeth. Early breeding studies demonstrated embryonal lethality of homozygous mutant animals and an autosomal semidominant mode of inheritance (Robinson, 1985). In detail, homozygous mutant embryos die very early during pregnancy and are resorbed, heterozygous dogs exhibit the ectodermal dysplasia phenotype, which is characteristic of several hairless dog breeds. Later studies showed the trait is caused by a 7 bp duplication in exon 1 of FOXI3. This is a desired trait in several breeds, including the Peruvian Inca, Mexican Hairless, and Chinese Crested Dog. Edited by Dr. Margret CasalbrbrSee also [OMIA:001279-9615]: Hypotrichosis, recessive in Canis lupus familiaris (dog) [220]

Clin feat: Affected dogs have varying degrees of hairlessness but most commonly, almost the entire body is affected. Depending on the breed, there will be tufts of hair on the distal limbs and the top of the head. Some dogs have very abnormal teeth, many of which are missing. Others appear to have only mild abnormalities. Toenails may be long and brittle. Neonatal deaths are more common in hairless pups than in their normal littermates. Wiener et al. (2013) provided extensive details of the clinical and histological differences between the three subphenotypes (true hairless, semi-coated and powderpuffs) of Chinese crested dogs and also clearly demonstrated distinct differences between the canine ectodermal dysplasia in Chinese crested dogs and dogs with X-linked ectodermal dysplasia. [220]

Pathology: Histological examination of hairless skin and foot pads shows an absence of hair follicles, adnexal structures, and eccrine glands. [220]

Prevalence: The condition is prevalent in specific breeds. It is considered a desired trait. [220]

Control: As this is a desired trait, no control is needed. However in some breeds, such as the Chinese crested, breeding hairless individuals to each other may result in smaller litter sizes as the presence of a double dose of the mutation in homozygote puppies leads to prenatal mortality. [220]

Gen test: Mutation testing is available. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3481910 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing the more likely of the two positional candidate genes (see Mapping section), Drögemüller et al. (2008) showed that this disorder is due to a 7-bp tandem duplication in exon 1 of FOXI3, a member of the family of forkhead box transcription factor genes. This gene was previously unknown to contribute to the development of ectodermal structures. Evidence (references) - 1993. The Inheritance and Breeding Results of Hairless Descendants of Mexican Hairless Dogs. Laboratory Animals — PubMed:PMID8437436 — OMIA Phene_Article / Article - 1985. Chinese crested dog. Journal of Heredity — PubMed:PMID3998444 — OMIA Phene_Article / Article - 2005. Analysis of the canine EDAR gene and exclusion as a candidate for the hairless phenotype in the Chinese Crested dog. Anim Genet — PubMed:PMID15771734 | DOI:10.1111/j.1365-2052.2005.01242.x — OMIA Phene_Article / Article - 2008. A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science — PubMed:PMID18787161 | DOI:10.1126/science.1162525 — OMIA Phene_Article / Article - 2005. Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. J Hered — PubMed:PMID15958791 | DOI:10.1093/jhered/esi086 — OMIA Phene_Article / Article - 2013. Clinical and histological characterization of hair coat and glandular tissue of Chinese crested dogs. Vet Dermatol — PubMed:PMID23413772 | DOI:10.1111/vde.12008 — OMIA Phene_Article / Article - 2013. Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes. Dev Dyn — PubMed:PMID23441037 | DOI:10.1002/dvdy.23952 — OMIA Phene_Article / Article - 2017. The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci — PubMed:PMID27994129 | DOI:10.1098/rstb.2015.0488 — OMIA Phene_Article / Article - 2017. The dental phenotype of hairless dogs with FOXI3 haploinsufficiency. Sci Rep — PubMed:PMID28710361 | DOI:10.1038/s41598-017-05764-5 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid. Vet Pathol — PubMed:PMID37191329 | DOI:10.1177/03009858231170295 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:305100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612351 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [220]

Chinese Crested — Canine multiple system degeneration; striatonigral and cerebello-olivary degeneration; hereditary cerebellar neuronal abiotrophy (hereditary; OMIA-verified breed predisposition)

Disorder: Canine multiple system degeneration; striatonigral and cerebello-olivary degeneration; hereditary cerebellar neuronal abiotrophy [221]

Clin feat: Stee et al. 2023: This disease has an onset of signs between 9 weeks and 6 months of age. Dogs initially present a mild intention tremor and stiffness in thoracic limb gait, which progresses within 3 to 4 months to severe hypermetric ataxia, spasticity, truncal sway, wide-based stance, delayed postural reactions, and decreased menace response [de Lahunta and Averill, 1976; Deforest et al., 1978; Montgomery and Storts, 1983; O'Brien et al. 2005; de Lahunta et al., 2021]. Signs progress to akinesia, inability to stand and euthanasia by 1 to 2 years of age. Cerebellar atrophy and T2W hyperintensity at the level of the caudate nuclei, putamen, and substantia nigra are visible on MRI in dogs affected for several weeks [O'Brien et al., 2005; de Lahunta et al., 2021]. [221]

Pathology: Stee et al. 2023: Macroscopic changes in advanced cases include a decreased cerebellar size (6%-9% of total brain weight) and necrosis of the caudate nuclei, putamen, and substantia nigra. Microscopically, an ischemic degeneration of Purkinje cells is seen first, followed by Purkinje cell and secondary granule cell loss. With chronicity, degeneration occurs in the olivary nuclei, followed by acute bilateral degeneration of caudate nuclei and substantia nigra neurons [de Lahunta and Averill, 1976; Deforest et al., 1978; Montgomery and Storts, 1983; O'Brien et al. 2005; de Lahunta et al., 2021]. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244778 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Stee et al. 2023: "This disease has been associated [in a non-peer reviewed conference proceeding] with 2 distinct breed-specific autosomal recessive variants in SERAC1, respectively a nonsense variant (XM_038654522.1:c.1536G>A (p.[Trp512*])) in the Kerry Blue Terrier and a 4-bp deletion (XM_038654522.1:c.182+1_182+4del) in the Chinese Crested [Guo et al., 2013]."St Jean et al. (2022) descr… Evidence (references) - 1976. Hereditary neuronal abiotrophy in Kerry Blue Terriers with cerebellar ataxia. Anatomia, Histologia and Embryologia (Zentralblatt fur Veterinarmedizin) — OMIA Phene_Article / Article - 1976. Hereditary cerebellar cortical and extrapyramidal nuclear abiotrophy in Kerry Blue terriers. J Am Vet Med Assoc — PubMed:PMID931776 — OMIA Phene_Article / Article - 1976. Hereditary cerebellar cortical and extrapyramidal nuclear abiotrophy in Kerry Blue Terriers. Proceedings of the Twentieth World Veterinary Congress, Thessaloniki — OMIA Phene_Article / Article - 1975. Hereditary neuronal abiotrophy in Kerry Blue Terriers with cerebellar ataxia. Proceedings of the Twentieth World Veterinary Congress, Thessaloniki — OMIA Phene_Article / Article - 2005. Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. J Hered — PubMed:PMID15958791 | DOI:10.1093/jhered/esi086 — OMIA Phene_Article / Article - 1946. Canine chorea due to striatocerebellar degeneration of unknown etiology. J Am Vet Med Assoc — OMIA Phene_Article / Article - 2022. Pathologic characterization of canine multiple system degeneration in the Ibizan hound. Vet Pathol — PubMed:PMID34490804 | DOI:10.1177/03009858211043088 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 1978. Hereditary cerebellar neuronal abiotrophy in a Kerry Blue Terrier dog. Can Vet J — PubMed:PMID698901 — OMIA Phene_Article / Article - 1983. Hereditary striatonigral and cerebello-olivary degeneration of the Kerry blue terrier. I. Gross and light microscopic central nervous system lesions. Vet Pathol — PubMed:PMID6836871 | DOI:10.1177/030098588302000202 — OMIA Phene_Article / Article - 2013. Canine multiple system degeneration is associated with distinct SERAC1 mutations in two different dog breeds. Proceedings of the 63rd Annual Meeting of the American Society of Human Genetics; October 22-26, 2013; Boston, USA. — OMIA Phene_Article / Article - 2021. Cerebellum. In: Veterinary Neuroanatomy and Clinical Neurology. A DeLahunta, E Glass, M Kent, eds. 5th ed. Philadelphia: Elsevier — OMIA Phene_Article / Article - (3 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:614725 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614739 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [221]

Chinese Shar-Pei — Congenital idiopathic megaesophagus (hereditary; OMIA-verified breed predisposition)

Breed: Chinese Shar-Pei (Dog) [222]

Disorder: Congenital idiopathic megaesophagus [222]

Summary: For detailed information on megaoesophagus in German Shepherd dogs due to variants in the MCHR2 gene see '[OMIA:002716-9615]: Megaoesophagus, MCHR2-related in Canis lupus familiaris' Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1957. Regurgitation in pups. II. Megaesophagus in a pup. Journal of the American Veterinary Medical Association — PubMed:PMID13416103 — OMIA Phene_Article / Article - 1990. Congenital idiopathic megaesophagus in a litter of Chinese Shar-Peis - Clinical, electrodiagnostic, and pathological findings.. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Oesophageal compliance in naturally occurring canine megaoesophagus.. Aust Vet J — PubMed:PMID8280024 | DOI:10.1111/j.1751-0813.1993.tb06079.x — OMIA Phene_Article / Article - 1994. Megaesophagus and hypomotility associated with esophageal leiomyoma in a dog.. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Megaoesophagus in the dog and cat.. Recueil de Medecine Veterinaire — OMIA Phene_Article / Article - 1994. Antibodies to nicotinic acetylcholine receptors in dogs with megaoesophagus.. Aust Vet J — PubMed:PMID7945104 | DOI:10.1111/j.1751-0813.1994.tb03408.x — OMIA Phene_Article / Article - 1994. A clinical survey of megaesophagus in the dog.. Indian Veterinary Journal — OMIA Phene_Article / Article - 1995. Megaoesophagus and glucocorticoid-deficient hypoadrenocorticism in a dog. Journal of Small Animal Practice — PubMed:PMID7783439 — OMIA Phene_Article / Article - 1996. Vagal esophagomotor nerve function and esophageal motor performance in dogs with congenital idiopathic megaesophagus. American Journal of Veterinary Research — PubMed:PMID8725822 — OMIA Phene_Article / Article - 1997. Canine and feline megaesophagus. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1997. Surgical and postoperative management of canine megaesophagus [German]. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Megaesophagus in the dog - a bibliographic review and a new classification proposal [Review] [Spanish]. Archivos de Medicina Veterinaria — OMIA Phene_Article / Article - (21 additional references in OMIA) - 1957. Regurgitation in pups. II. Megaesophagus in a pup. Journal of the American Veterinary Medical Association — PubMed:PMID13416103 — OMIA Phene_Article / Article - 1990. Congenital idiopathic megaesophagus in a litter of Chinese Shar-Peis - Clinical, electrodiagnostic, and pathological findings. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Oesophageal compliance in naturally occurring canine megaoesophagus. Aust Vet J — PubMed:PMID8280024 | DOI:10.1111/j.1751-0813.1993.tb06079.x — OMIA Phene_Article / Article - 1994. Megaesophagus and hypomotility associated with esophageal leiomyoma in a dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Megaoesophagus in the dog and cat. Recueil de Medecine Veterinaire — OMIA Phene_Article / Article - 1994. Antibodies to nicotinic acetylcholine receptors in dogs with megaoesophagus. Aust Vet J — PubMed:PMID7945104 | DOI:10.1111/j.1751-0813.1994.tb03408.x — OMIA Phene_Article / Article - 1994. A clinical survey of megaesophagus in the dog. Indian Veterinary Journal — OMIA Phene_Article / Article - 1995. Megaoesophagus and glucocorticoid-deficient hypoadrenocorticism in a dog. Journal of Small Animal Practice — PubMed:PMID7783439 — OMIA Phene_Article / Article - 1996. Vagal esophagomotor nerve function and esophageal motor performance in dogs with congenital idiopathic megaesophagus. American Journal of Veterinary Research — PubMed:PMID8725822 — OMIA Phene_Article / Article - 1997. Canine and feline megaesophagus. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1997. Surgical and postoperative management of canine megaesophagus [German]. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Megaesophagus in the dog - a bibliographic review and a new classification proposal [Review] [Spanish]. Archivos de Medicina Veterinaria — OMIA Phene_Article / Article - (21 additional references in OMIA) - 1957. Regurgitation in pups. II. Megaesophagus in a pup. Journal of the American Veterinary Medical Association — PubMed:PMID13416103 — OMIA Phene_Article / Article - 1990. Congenital idiopathic megaesophagus in a litter of Chinese Shar-Peis - Clinical, electrodiagnostic, and pathological findings. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Oesophageal compliance in naturally occurring canine megaoesophagus. Aust Vet J — PubMed:PMID8280024 | DOI:10.1111/j.1751-0813.1993.tb06079.x — OMIA Phene_Article / Article - 1994. Megaesophagus and hypomotility associated with esophageal leiomyoma in a dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Megaoesophagus in the dog and cat. Recueil de Medecine Veterinaire — OMIA Phene_Article / Article - 1994. Antibodies to nicotinic acetylcholine receptors in dogs with megaoesophagus. Aust Vet J — PubMed:PMID7945104 | DOI:10.1111/j.1751-0813.1994.tb03408.x — OMIA Phene_Article / Article - 1994. A clinical survey of megaesophagus in the dog. Indian Veterinary Journal — OMIA Phene_Article / Article - 1995. Megaoesophagus and glucocorticoid-deficient hypoadrenocorticism in a dog. Journal of Small Animal Practice — PubMed:PMID7783439 — OMIA Phene_Article / Article - 1996. Vagal esophagomotor nerve function and esophageal motor performance in dogs with congenital idiopathic megaesophagus. American Journal of Veterinary Research — PubMed:PMID8725822 — OMIA Phene_Article / Article - 1997. Canine and feline megaesophagus. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1997. Surgical and postoperative management of canine megaesophagus [German]. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Megaesophagus in the dog - a bibliographic review and a new classification proposal [Review] [Spanish]. Archivos de Medicina Veterinaria — OMIA Phene_Article / Article - (21 additional references in OMIA) - 1957. Regurgitation in pups. II. Megaesophagus in a pup. Journal of the American Veterinary Medical Association — PubMed:PMID13416103 — OMIA Phene_Article / Article - 1990. Congenital idiopathic megaesophagus in a litter of Chinese Shar-Peis - Clinical, electrodiagnostic, and pathological findings. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Oesophageal compliance in naturally occurring canine megaoesophagus. Aust Vet J — PubMed:PMID8280024 | DOI:10.1111/j.1751-0813.1993.tb06079.x — OMIA Phene_Article / Article - 1994. Megaesophagus and hypomotility associated with esophageal leiomyoma in a dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Megaoesophagus in the dog and cat. Recueil de Medecine Veterinaire — OMIA Phene_Article / Article - 1994. Antibodies to nicotinic acetylcholine receptors in dogs with megaoesophagus. Aust Vet J — PubMed:PMID7945104 | DOI:10.1111/j.1751-0813.1994.tb03408.x — OMIA Phene_Article / Article - 1994. A clinical survey of megaesophagus in the dog. Indian Veterinary Journal — OMIA Phene_Article / Article - 1995. Megaoesophagus and glucocorticoid-deficient hypoadrenocorticism in a dog. Journal of Small Animal Practice — PubMed:PMID7783439 — OMIA Phene_Article / Article - 1996. Vagal esophagomotor nerve function and esophageal motor performance in dogs with congenital idiopathic megaesophagus. American Journal of Veterinary Research — PubMed:PMID8725822 — OMIA Phene_Article / Article - 1997. Canine and feline megaesophagus. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1997. Surgical and postoperative management of canine megaesophagus [German]. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Megaesophagus in the dog - a bibliographic review and a new classification proposal [Review] [Spanish]. Archivos de Medicina Veterinaria — OMIA Phene_Article / Article - (21 additional references in OMIA) - 1957. Regurgitation in pups. II. Megaesophagus in a pup. Journal of the American Veterinary Medical Association — PubMed:PMID13416103 — OMIA Phene_Article / Article - 1990. Congenital idiopathic megaesophagus in a litter of Chinese Shar-Peis - Clinical, electrodiagnostic, and pathological findings. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Oesophageal compliance in naturally occurring canine megaoesophagus. Aust Vet J — PubMed:PMID8280024 | DOI:10.1111/j.1751-0813.1993.tb06079.x — OMIA Phene_Article / Article - 1994. Megaesophagus and hypomotility associated with esophageal leiomyoma in a dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1993. Megaoesophagus in the dog and cat. Recueil de Medecine Veterinaire — OMIA Phene_Article / Article - 1994. Antibodies to nicotinic acetylcholine receptors in dogs with megaoesophagus. Aust Vet J — PubMed:PMID7945104 | DOI:10.1111/j.1751-0813.1994.tb03408.x — OMIA Phene_Article / Article - 1994. A clinical survey of megaesophagus in the dog. Indian Veterinary Journal — OMIA Phene_Article / Article - 1995. Megaoesophagus and glucocorticoid-deficient hypoadrenocorticism in a dog. Journal of Small Animal Practice — PubMed:PMID7783439 — OMIA Phene_Article / Article - 1996. Vagal esophagomotor nerve function and esophageal motor performance in dogs with congenital idiopathic megaesophagus. American Journal of Veterinary Research — PubMed:PMID8725822 — OMIA Phene_Article / Article - 1997. Canine and feline megaesophagus. Compendium on Continuing Education for the Practicing Veterinarian — OMIA Phene_Article / Article - 1997. Surgical and postoperative management of canine megaesophagus [German]. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Megaesophagus in the dog - a bibliographic review and a new classification proposal [Review] [Spanish]. Archivos de Medicina Veterinaria — OMIA Phene_Article / Article - (21 additional references in OMIA) [222]

Chinese Shar-Pei — Hyaluronanosis; familial Shar-Pei fever; hereditary cutaneous hyaluronosis/mucinosis; canine autoinflammatory disease (AID); Shar-Pei autoinflammatory disease (SPAID); Shar-Pei recurrent fever syndrome; swollen hock syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Hyaluronanosis; familial Shar-Pei fever; hereditary cutaneous hyaluronosis/mucinosis; canine autoinflammatory disease (AID); Shar-Pei autoinflammatory disease (SPAID); Shar-Pei recurrent fever syndrome; swollen hock syndrome [223]

Clin feat: Shar-Pei autoinflammatory disease (SPAID) is characterized by five signs of inflammation: familial Shar-Pei fever (FSF), arthritis, vesicular hyaluronosis, otitis and amyloidosis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3481181 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 388304307 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Olsson et al. (2011), from the LUPA consortium, presented evidence suggestive that the "distinctive thick and heavily folded skin" of the Shar-Pei breed is associated with several copies of a the "meatmouth" (CNV-E) duplication upstream of the HAS2 gene that encodes hyaluronic acid synthase 2. The duplication results in over-expression of the HAS2 enzyme which in turn results in a build-up of hyal… Evidence (references) - 1993. Inheritance of renal amyloidosis in Chinese Shar-Pei dogs,. J Hered — PubMed:PMID8270767 | DOI:10.1093/oxfordjournals.jhered.a111369 — OMIA Phene_Article / Article - 2011. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. PLoS Genet — PubMed:PMID21437276 | DOI:10.1371/journal.pgen.1001332 — OMIA Phene_Article / Article - 2009. Hereditary cutaneous mucinosis in shar pei dogs is associated with increased hyaluronan synthase-2 mRNA transcription by cultured dermal fibroblasts. Vet Dermatol — PubMed:PMID20178474 | DOI:10.1111/j.1365-3164.2009.00799.x — OMIA Phene_Article / Article - 1992. A canine febrile disorder associated with elevated interleukin-6. Clin Immunol Immunopathol — PubMed:PMID1606750 — OMIA Phene_Article / Article - 2010. Tracking footprints of artificial selection in the dog genome. Proc Natl Acad Sci U S A — PubMed:PMID20080661 | DOI:10.1073/pnas.0909918107 — OMIA Phene_Article / Article - 2012. Renal amyloidosis in dogs: A retrospective study of 91 cases with comparison of the disease between Shar-Pei and Non-Shar-Pei dogs. J Vet Intern Med — PubMed:PMID22268374 | DOI:10.1111/j.1939-1676.2011.00878.x — OMIA Phene_Article / Article - 2013. Thorough investigation of a canine autoinflammatory disease (AID) confirms one main risk locus and suggests a modifier locus for amyloidosis. PLoS One — PubMed:PMID24130694 | DOI:10.1371/journal.pone.0075242 — OMIA Phene_Article / Article - 2011. Increased HAS2-driven hyaluronic acid synthesis in Shar-Pei dogs with hereditary cutaneous hyaluronosis (mucinosis). Vet Dermatol — PubMed:PMID21718367 | DOI:10.1111/j.1365-3164.2011.00986.x — OMIA Phene_Article / Article - 2014. A study of Shar-Pei dogs refutes association of the 'meatmouth' duplication near HAS2 with Familial Shar-Pei Fever. Anim Genet — PubMed:PMID25040095 | DOI:10.1111/age.12193 — OMIA Phene_Article / Article - 2016. Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics — PubMed:PMID27107962 | DOI:10.1186/s12864-016-2619-0 — OMIA Phene_Article / Article - 2017. Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC Genomics — PubMed:PMID28472921 | DOI:10.1186/s12864-017-3737-z — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - (2 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:601636 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605927 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [223]

Chinese Shar-Pei — Non-epidermolytic ichthyosis (hereditary; OMIA-verified breed predisposition)

Disorder: Non-epidermolytic ichthyosis [224]

Clin feat: Affolter et al. 2022: A 3-months old male Chinese shar-pei was presented for scaly skin and reduced overall body growth when compared with his 3 littermates. At the time of presentation severe generalized scaling and alopecia was noted, with scaling most prominent on the head, neck, abdomen, legs, axillary folds and paws. Prominent follicular fronds accompanied surface scaling. The paw pads appeared deformed and hyperkeratotic. Pruritus was not observed. The left eye had an entropium. Skin scrapings for Demodex mites were negative. Skin cytology revealed numerous yeast organisms. [224]

Pathology: Affolter et al. 2022: Biopsies from all three locations revealed severe hyperkeratosis, characterized by prominent keratin lamellae overlaying a marked compact layer of keratin. The epidermis was markedly acanthotic and most infundibular regions were markedly dilated resulting in narrowing of the interfollicular epidermis. The follicular lumina were filled with keratin and the infundibular epithelium was hyperplastic. Some perinuclear clearing was most evident in the prominent granular layer with irregularly sized keratohyalin. Dispersed mast cells and some plasma cells and neutrophils were present in the superficial dermis and the sebaceous glands were prominent. Several small neutrophilic crusts with some cocci were noted entrapped within the thick keratin layer. In the sample from the shoulder some follicles contained neutrophils in their lumina and the epidermis was covered by parakeratosis. Superficial yeast organisms were not observed in sections stained with periodic acid-Schiff stain. Many hair follicles and remaining hair shafts contained clumped melanin. The following morphologic diagnoses were made: 1) severe acanthosis and superficial and follicular hyperkeratosis suggestive of a cornification disturbance and 2) multifocal neutrophilic pustular dermatitis and neutrophilic luminal folliculitis and 3) melanin pigment clumping indicating dilute hair coat color. The latter was considered an expected incidental finding as the dog had a d1/d2 genotype at the MLPH gene and was born out of two clinically inconspicuous dilute-colored parents. Given the overwhelming features of follicular and superficial hyperkeratosis, a hereditary cornification disorder consistent with ichthyosis was considered. Pustules and superficial folliculitis indicated a secondary pyoderma, which, based on skin cytology, was accompanied by a superficial yeast infection. [224]

Prevalence: Affolter et al. (2022) reported on a single affected dog born out of unaffected parents. The ichthyosis phenotype was the result of a de novo mutation event. Therefore, the studied dog most likely represented a unique case. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: KER1 (Entrez Gene ID 388223343) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Affolter et al. (2022) investigated a single affected dog and its parents. The authors performed whole genome trio sequencing and focussed their search on 36 functional candidate genes for ichthyosis. An initial search for private protein-changing variants in the affected dog against 793 publicly available control genomes (excluding the parents) revealed 2 heterozygous candidate variants. Further … Evidence (references) - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2022. A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis. PLoS One — PubMed:PMID36251712 | DOI:10.1371/journal.pone.0275367 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:139350 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:113800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:146590 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607602 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607654 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:144200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600962 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [224]

Chinese Shar-Pei — Prekallikrein deficiency (hereditary; OMIA-verified breed predisposition)

Clin feat: Prekallikrein (PK) is a protein that is involved in the blood clotting process. As a result, dogs with a PK deficiency experience prolonged activated partial thromboplastin Time (aPPT) (Okawa et al., 2011). This disorder is often asymptomatic in the absence of other clotting factor deficiencies (Chin et al., 1986). Classical signs of haemostatic disorders such as haematuria and prolonged bleeding or healing times after surgery have been reported but are unlikely unless there is concurrent disease (Chinn et al. 1986). Gastrointestinal bleeding has also been reported in a dog with this disorder (Otto et al., 1991). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: PK (Entrez Gene ID 26582224) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Okawa et al. (2011) "describe a case of a dog that was referred for neurological defects and had a prolonged activated partial thromboplastin time (aPTT) and normal prothrombin time (PT) with no hemostatic defects. By using human PK-deficient plasma, the dog was diagnosed to have PK deficiency. The nucleotide sequence of normal canine PK cDNA was determined and compared with the genomic sequences … Causal variant(s) - Variant: chromosome 2; pathogenicity class 1; gene ZFHX1B — OMIA Variant / Variant_Phene Evidence (references) - 1991. Factor-XII and partial prekallikrein deficiencies in a dog with recurrent gastrointestinal hemorrhage. J Am Vet Med Assoc — PubMed:PMID1995570 — OMIA Phene_Article / Article - 2011. Prekallikrein deficiency in a dog. J Vet Med Sci — PubMed:PMID20736516 | DOI:10.1292/jvms.10-0207 — OMIA Phene_Article / Article - 1986. Prekallikrein deficiency in a dog. J Am Vet Med Assoc — PubMed:PMID3632973 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:229000 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612423 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [225]

Chinook — Chondrodysplasia, disproportionate short-limbed, ITGA10-related' (hereditary; OMIA-verified breed predisposition)

Breed: Chinook (Dog) [226]

Clin feat: As reported by Bingel and Sande (1982): Radiographic changes included flaring and increased width of the distal metaphyses of the radius and ulna, delayed ossification of the cuboid bones of the carpus, and reduction in length of the vertebral bodies. The zone of chondrocyte proliferation was decreased in width and contained areas of abnormal cell column formation alternated with wide areas of matrix. Chondrocytes in all zones contained one or more inclusions bounded by a smooth discontinuous membrane. The material within the inclusions appeared homogeneous and stained blue-green with Movat's pentachrome and deep blue with alcian blue-periodic acid-Schiff at pH 1.0 and 2.6. The distribution of ruthenium red granules in the matrix frequently revealed poor differentiation into territorial and interterritorial zones. [226]

Prevalence: As reported by Kyöstilä et al. (2013), Carrier frequency of the c.2083C>T mutation was 24% in a cohort of 156 randomly selected Finnish NEs [Norwegian Elkhound] and 8% in a population sample of 287 KBDs [Karelian bear dog]. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388303744 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The most likely functional candidate gene in the region mapped by Kyöstilä et al. (2013) (see above) was ITAG10, encoding integrin subunit alpha 10. Sequencing all exons in this gene in two affecteds, an obligate carrier and a half-sib of an affected dog, revealed four exonic SNVs, namely three synonymous and one nonsense (c.2083C>T in exon 16; p.Arg695*) [omia.variant:336]. Widespread… Evidence (references) - 1982. Chondrodysplasia in the Norwegian Elkhound. Am J Pathol — PubMed:PMID7081383 — OMIA Phene_Article / Article - 2013. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. PLoS One — PubMed:PMID24086591 | DOI:10.1371/journal.pone.0075621 — OMIA Phene_Article / Article - 2016. Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One — PubMed:PMID27525650 | DOI:10.1371/journal.pone.0161005 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:604042 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [226]

Chow Chow — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Chow Chow (Dog) [94]

Chow Chow — ridge; hair ridge; dermoid cyst (hereditary; OMIA-verified breed predisposition)

Disorder: ridge; hair ridge; dermoid cyst [227]

Mode of inheritance: [T]he ridge trait [in Rhodesian Ridgeback dogs] is inherited in a dominant fashion; thus a single copy of this duplication results in appearance of a ridge, and dogs with two copies of the duplication are indistinguishable from dogs with one copy (Waldo and Diaz, 2015) Homozygotes for the Ridge allele are more likely to also have a dermoid sinus (Salmon Hillbertz et al., 2007). Inheritance of dermoid sinuses in other breeds is less well documented. [227]

Summary: Dermoid sinuses and cysts have been described in dogs from several breeds. Hillbertz and Andersson (2006) reported that in the Rhodesian ridgeback population, dogs with the autosomal dominant ridge are predisposed to dermoid sinuses. Salmon Hillbertz et al. (2007) identified the causative mutation for the autosomal dominant dorsal hair ridge in Rhodesian and Thai Ridgeback dogs and proposed that the mutation predisposes to dermoid sinus with low penetrance in duplication heterozygotes and with high penetrance in homozygotes. [227]

Gen test: Waldo and Diaz (2015) reported a useful diagnostic test for the duplication causing the ridge allele detailed above. While homozygotes and heterozygotes for the duplication (Ridge allele) have identical ridge appearance (characteristic of ridged breeds), homozygotes for the Ridge allele are more likely to also have a dermoid sinus (Salmon Hillbertz et al., 2007). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3482387 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 23858819 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 388306198 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 388306207 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The 750kb candidate region on CFA18 identified by Karlsson et al. (2007) (see Mapping section) contains five genes, three of which are fibroblast growth factor (FGF) genes that in chickens have an integral role in embryonic development. In an accompanying paper in the same issue of Nature Genetics, Salmon Hillbertz et al. (2007) reported that the hair-ridge phenotype (which predisposes to dermoid … Evidence (references) - 1966. Dermoid sinus in the Rhodesian Ridgeback. Journal of Small Animal Practice — PubMed:PMID5951011 | DOI:10.1111/j.1748-5827.1966.tb04388.x — OMIA Phene_Article / Article - 1957. Mid dorsal dermoid sinuses in Rhodesian Ridgeback dogs - a case report. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1993. Dermoid Sinus in a Rhodesian Ridgeback. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1995. Dermoid sinus and spinal malformations in a Yorkshire terrier: Diagnosis and follow-up. Journal of Small Animal Practice — PubMed:PMID7603060 — OMIA Phene_Article / Article - 1998. Atypical dermoid sinus in a chow chow dog. Journal of the South African Veterinary Medical Association — OMIA Phene_Article / Article - 1999. A dermoid sinus in a Siberian Husky. Veterinary Dermatology — OMIA Phene_Article / Article - 2000. True dermoid cyst in a Rhodesian ridgeback. Journal of Small Animal Practice — PubMed:PMID11002937 — OMIA Phene_Article / Article - 2007. Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nat Genet — PubMed:PMID17906623 | DOI:10.1038/ng.2007.4 — OMIA Phene_Article / Article - 2007. Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet — PubMed:PMID17906626 | DOI:10.1038/ng.2007.10 — OMIA Phene_Article / Article - 2009. Genome-wide association analysis in domestic animals: a powerful approach for genetic dissection of trait loci. Genetica — PubMed:PMID18704695 | DOI:10.1007/s10709-008-9312-4 — OMIA Phene_Article / Article - 2008. Magnetic resonance imaging in the diagnosis of type 1 dermoid sinus in two Rhodesian Ridgeback dogs. J Small Anim Pract — PubMed:PMID10713979 | DOI:10.1111/j.1748-5827.2000.tb03132.x — OMIA Phene_Article / Article - 2006. Autosomal dominant mutation causing the dorsal ridge predisposes for dermoid sinus in Rhodesian ridgeback dogs. J Small Anim Pract — PubMed:PMID16573760 | DOI:10.1111/j.1748-5827.2006.00016.x — OMIA Phene_Article / Article - (15 additional references in OMIA) [227]

Cirneco dell'Etna — Cirneco oculo-neurological syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Cirneco dell'Etna (Dog) [228]

Disorder: Cirneco oculo-neurological syndrome [228]

Clin feat: Murgiano et al. (2024) reported two Cirneco dell′ Etna dogs from the same litter with retinal degeneration, along with tremors, gait alteration and signs described as either atypical seizures or paroxysmal dyskinesias. Analysis of the brain MRI. showed a discrete area of bilaterally symmetric, peri-ventricular T2 hyperintensity.. This signal abnormality extended towards the internal capsule, where it was accompanied by increased T2 signal within the caudate nuclei bilaterally (right greater than left). There was also moderate ventriculomegaly involving the lateral ventricles. This appeared to result from diffuse thinning of cerebral white matter, most notable in the ventral temporal lobe. The results of the CSF analysis were within normal ranges.. The MRI of the cervical spine did not reveal any abnormalities. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298883 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Murgiano et al. (2024) "undertook homozygosity mapping and whole-genome sequencing ... [and] detected a 1-bp deletion in chromosome 6 [in affected Cirneco dell′ Etna dogs] that was predicted to cause a frameshift and premature stop codon within the canine AMPD2 gene, which encodes adenosine monophosphate deaminase, an enzyme that converts adenosine 5′-monophosphate (AMP) to inosine 5… Evidence (references) - 2024. Frameshift variant in AMPD2 in Cirneco dell'Etna dogs with retinopathy and tremors. Genes (Basel) — PubMed:PMID38397227 | DOI:10.3390/genes15020238 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:102771 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615809 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [228]

Clumber Spaniel — Pyruvate dehydrogenase deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Clumber Spaniel (Dog) [229]

Summary: Deficiency in pyruvate dehydrogenase phosphatase 1 in Clumber and Sussex Spaniels is characterized by exercise intolerance, lactic acidosis, and collapse after exercise. The causative mutation is the same in these breeds. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [229]

Clin feat: Affected dogs show exercise intolerance, lactic acidosis, and post-exercise collapse. Management includes exercise restriction and a high-fat diet with thiamine and carnitine supplementation (Cameron et al., 2007). [229]

Pathology: PDP1 is a key component of the pyruvate dehydrogenase complex (PDHC) that controls the rate of tricarboxylic acid entry into the citric acid cycle. During exercise, large quantities of lactate and pyruvate are generated through the anaerobic pathway. PDP1 deficiency causes severe reduction in pyruvate entry into the citric acid cycle, leading to insufficient generation of ATP and lactate and pyruvate acidosis when muscle is exercised (Cameron et al., 2007). [229]

Prevalence: Of 100 Clumber Spaniels tested, 20 were carriers and 1 was homozygous for the mutation. There is thought to be a high frequency of heterozygotes amongst Clumber Spaniels, but fewer affected dogs alive than expected. This suggests that affected dogs may be at risk for prenatal or neonatal mortality (Cameron et al., 2007). [229]

Control: Since the Clumber and Sussex Spaniel gene pools are small in the USA, gradual elimination of the mutation can be achieved by testing all dogs prior to breeding, and to breeding carriers only to noncarriers. Breeding of affected dogs should be avoided. [229]

Gen test: There is a test available to identify carrier and affected dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: PPM2C (Entrez Gene ID 3478038) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 1979. Collapsing Clumber Spaniels. Veterinary Record — PubMed:PMID516334 — OMIA Phene_Article / Article - 2004. Pyruvate dehydrogenase deficiency in a Sussex spaniel. J Small Anim Pract — PubMed:PMID15049576 — OMIA Phene_Article / Article - 1980. Mitochondrial myopathy in the Sussex spaniel. Vet Rec — PubMed:PMID7361423 — OMIA Phene_Article / Article - 2000. Pyruvate dehydrogenase deficiency in Clumber and Sussex spaniels in the United States and Belgium. J. Vet. Intern. Med. — OMIA Phene_Article / Article - 1979. Collapsing Clumber spaniels. Vet Rec — PubMed:PMID552740 — OMIA Phene_Article / Article - 2007. Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab — PubMed:PMID17095275 | DOI:10.1016/j.ymgme.2006.09.011 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608782 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605993 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [229]

Cockapoo — NADH cytochrome B5 reductase deficiency, hereditary canine methaemoglobinaemia. (hereditary; OMIA-verified breed predisposition)

Breed: Cockapoo (Dog) [88]

Cocker Spaniel — Alport syndrome, X-linked hereditary nephropathy, glomerulonephritis, X- linked nephritis (hereditary; OMIA-verified breed predisposition)

Breed: Cocker Spaniel (Dog) [230]

Disorder: Alport syndrome, X-linked hereditary nephropathy, glomerulonephritis, X- linked nephritis [230]

Summary: X-linked nephritis is caused by mutations in the alpha 5 chain of collagen type IV (COL4A5), a key structural component of the glomerular basement membrane. Affected males have severely reduced COL4A5 levels and early-onset renal failure. For other types of hereditary nephritis see also: '[OMIA:002618-9615] Nephropathy, COL4A4 related '; '[OMIA:001114-9615] Nephritis, autosomal dominant'; [OMIA:000708-9615]: Nephritis' and '[OMIA:000413-9615] Glomerulonephritis'. [230]

Clin feat: Affected males exhibit proteinuria and develop rapidly progressive renal failure, which is usually fatal before 1 year of age in the Samoyed and 18 months of age in the Navasota mixed breed model. Heterozygous female Samoyeds may present with a wide range of renal function, from normal to initially having proteinuria and occasionally microscopic hematuria, but most were healthy until 5 years of age (Baumal et al., 1991). With age, approximately 31% of carrier female Samoyeds developed mild renal disease, and 38% progressed to end-stage renal disease. Possible clinical features may also include hearing loss (Harvey et al., 2001) and and anterior lenticonus (Kashtan, 2002). [230]

Pathology: Collagen type IV is an important contributor to basement membrane structural integrity. Affected males have approximately 10% of normal levels of the alpha 5 chain of collagen type IV, as well as decreased levels of the alpha 3 and alpha 4 chains (Thorner et al., 1996). Multilaminar splitting of glomerular basement membranes is found by electron microscopy (Baumal et al., 1991). The thinning and thickening of the glomerular basement membrane appears as “basket weave” patterns under electron microscopy (Clark et al., 2016). Areas of focal segmental glomerulosclerosis are found by light microscopy (Baumal et al., 1991). These basement membrane changes are also indicated to cause decreased strength of the lens capsule preventing maintenance of normal lens shape (Kashtan, 2002). Alport syndrome also weakens the interaction between the extracellular matrix in the ear resulting in reduced tension on the basement membrane and an inability to respond to high frequency sounds (Harvey et al., 2001). [230]

Control: Males with signs of renal disease should be tested for the causative mutation. As it is an X-linked trait, the dam of affected males is an obligate carrier. Male siblings of affected dogs should be free of the mutation, but female siblings should be tested. Breeding of affected or carrier dogs is not recommended. [230]

Cocker Spaniel — Bernard-Soulier syndrome, type C (hereditary; OMIA-verified breed predisposition)

Clin feat: Gentilini et al. (2019): The affected dogs showed a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts resembling human Bernard-Soulier syndrome (BSS). Furthermore, the lack of functional GPIb-IX-V was demonstrated by immunocytochemistry. [231]

Prevalence: Gentilini et al. (2019): the prevalence of the variant allele [in a sample of Cocker Spaniels from Switzerland and Italy] was 4.6% with a distribution of genotypes frequencies of 91.8% of homozygous wild-type, 7.1% of heterozygous and 1% of homozygous variant. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388304690 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Gentilini et al. (2019): "Whole genome sequencing of one affected dog and visual inspection of the [comparative] candidate genes identified a deletion in the glycoprotein IX platelet (GP9) gene. The GP9 gene encodes a subunit of a platelet surface membrane glycoprotein complex; this functions as a receptor for von Willebrand factor, which initiates the maintenance of hemostasis after injury. Varia… Evidence (references) - 2019. A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. PLoS One — PubMed:PMID31484196 | DOI:10.1371/journal.pone.0220625 — OMIA Phene_Article / Article - 2023. Point-of-care platelet function testing results in a dog with Bernard-Soulier syndrome. Vet Clin Pathol — PubMed:PMID37438861 | DOI:10.1111/vcp.13266 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:231200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:173515 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [231]

Collie Rough — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Collie Rough (Dog) [68]

Collie Rough — Recurrent inflammatory pulmonary disease (hereditary; OMIA-verified breed predisposition)

Clin feat: Hug et al. (2019): The clinical symptoms were similar to primary ciliary dyskinesia (PCD) [OMIA 001540-9615]. However, the affected dogs did not carry any known pathogenic PCD variants [232]

Prevalence: Hug et al. (2019) genotyped 88 Rough Collies consisting of family members and unrelated individuals. All three available cases were homozygous for the mutant allele and all 85 non-affected dogs were either homozygous wildtype (n = 67) or heterozygous (n = 18). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248850 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Comparison by Hug et al. (2019) of the genome sequence of one affected dog with the sequences of 601 control genomes showed that "only a single private homozygous protein-changing variant" was located within the candidate region of chromosome CFA10. "The detected variant was a 4 bp deletion, c.2717_2720delACAG, in the AKNA gene encoding the AT-hook transcription factor. It causes a frame-shift int… Evidence (references) - 2019. AKNA frameshift variant in three dogs with recurrent inflammatory pulmonary disease. Genes (Basel) — PubMed:PMID31357536 | DOI:10.3390/genes10080567 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:605729 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [232]

Collie Smooth — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Collie Smooth (Dog) [69]

Collie — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Collie (Dog) [68]

Coton de Tulear — Bandera's neonatal ataxia (hereditary; OMIA-verified breed predisposition)

Breed: Coton de Tulear (Dog) [233]

Disorder: Bandera's neonatal ataxia [233]

Clin feat: Neurologic examination. of 7 affected puppies. revealed normal mental status, head titubation, intention tremors, and severe gait, stance, and ocular ataxia beginning at 2 weeks of age. One of the pups was able to walk with assistance, but most of the affected pups were unable to stand and used propulsive movements (‘‘swimming’’) for goal-oriented activities. They frequently would fall to lateral recumbency with subsequent decerebellate posturing and paddling. Ocular motor abnormalities included fine vertical tremors at rest and saccadic dysmetria. The condition was nonprogressive at least until 4 months of age. (Coates et al. 2002) [233]

Pathology: Routine light microscopic and immunocytochemical examination of brain, spinal cord, peripheral nerve, and muscle did not disclose any gross or histologic lesions. Compared with the cerebellum from an age-matched normal dog, the cerebellum from an affected dog showed synaptic abnormalities, including loss of presynaptic terminals and organelles associated with parallel fiber varicosities within the molecular layer and increased numbers of lamellar bodies in Purkinje cells. (Coates et al. 2002) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3482627 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Sequencing of the GRM1 positional candidate gene by Zeng et al. (2011) identified the causal mutation as "a 62-bp truncated retrotransposon insert in exon 8". Evidence (references) - 2002. Neonatal cerebellar ataxia in Coton de Tulear dogs. Journal of Veterinary Internal Medicine — PubMed:PMID12465765 — OMIA Phene_Article / Article - 2011. A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia. J Vet Intern Med — PubMed:PMID21281350 | DOI:10.1111/j.1939-1676.2010.0666.x — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:614831 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604473 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617691 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [233]

Coton de Tulear — Multifocal retinopathy 2 (hereditary; OMIA-verified breed predisposition)

Clin feat: Signs of cmr include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina, progressing as the dog ages, to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998). [234]

Coton de Tulear — familial oxalate nephropathy (hereditary; OMIA-verified breed predisposition)

Disorder: familial oxalate nephropathy [235]

Clin feat: Tibetan Spaniels with type 1 primary hyperoxaluria usually present at a young age (from 5 weeks of age) with vomiting, diarrhoea, inappetence, weight loss, poor growth, depression, polydipsia (excessive thirst), polyuria (excessive production of urine) and may have anaemia (Jansen and Arnesen, 1990). The two affected Tibetian Spaniels were emaciated and anaemic at 7- and 9-weeks of age when they were euthanised (Jansen and Arnesen, 1990). Vidgren et al. (2012) report that in Coton de Tulear puppies onset is sudden, starting at an age of 3–4 weeks and resulted in euthanasia within a week. [235]

Pathology: Jansen and Arnesen (1990) report end-stage kidney lesions consistent with an oxalate nephropathy in two affected Tibetan Spaniels at 7- and 9-weeks of age. Vidgren et al. (2012) reported postmortem findings in seven affected Coton de Tulear puppies: The only significant findings were in the kidneys, which were pale with pinpoint white foci scattered in the cortex. Numerous oxalate crystals. were present in the tubules in the renal cortex and at the corticomedullary junction. Smaller crystals were present below the tubular epithelium. Uroliths or nephrocalcinosis were not present. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389508874 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Exon sequencing of the candidate gene AGXT in Coton du Tulear dogs by Vidgren et al. (2012) revealed a missense mutation to be the cause of this disorder; specifically "a single base change (c.996G>A) that changed one conserved residue (p.Gly102Ser)". Evidence (references) - 1990. Oxalate nephropathy in a Tibetan spaniel litter. A probable case of primary hyperoxaluria. J Comp Pathol — PubMed:PMID2394849 — OMIA Phene_Article / Article - 1991. Enzymological characterization of a putative canine analogue of primary hyperoxaluria type 1. Biochim Biophys Acta — PubMed:PMID1672096 — OMIA Phene_Article / Article - 2012. Primary hyperoxaluria in Coton de Tulear. Anim Genet — PubMed:PMID22486513 | DOI:10.1111/j.1365-2052.2011.02260.x — OMIA Phene_Article / Article - 2026. Serum and urine metabolomic profiling in Miniature Schnauzer dogs with and without calcium oxalate urolithiasis. Metabolomics — PubMed:PMID41961373 | DOI:10.1007/s11306-026-02429-1 — OMIA Phene_Article / Article - 2026. Animal models for calcium oxalate kidney stone research. Zool Res — PubMed:PMID42267561 | DOI:10.24272/j.issn.2095-8137.2025.567 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:259900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604285 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [235]

Croatian Sheepdog — bob-tail, bob tail (hereditary; OMIA-verified breed predisposition)

Breed: Croatian Sheepdog (Dog) [130]

Curly Coated Retriever — Curly coat (hereditary; OMIA-verified breed predisposition)

Breed: Curly Coated Retriever (Dog) [170]

Curly Coated Retriever — Glycogen storage disease IIIa (hereditary; OMIA-verified breed predisposition)

Clin feat: Affected dogs show increases in ALT, ALP, and CK within the first year of life. By 14 months of age, lethargy, exercise intolerance, and collapse after exercise may become apparent (Gregory et al., 2007). The disease in Curly-Coated Retrievers is mild compared to what was reported in German shepherds (Ceh et al., 1976; Rafiquzzaman et al., 1976) as a severe metabolic derangement that led to death or euthanasia by 15 months of age. This is likely due to a different mutation or genetic background. Yi et al. (2012) provided a detailed clinical account of the disorder in Curly Coat Retrievers, having established a colony that segregates for the causal mutation described above. They summarise their findings as: Abnormally high glycogen deposition was found in liver and muscle, and, consistent with liver and muscle damage, high and gradually increasing activity of enzymes including AST, ALT, ALP and CPK were found in serum. In muscle, increased glycogen deposition was accompanied by disruption of the contractile apparatus and fraying of myofibrils. Progressive, age-related liver fibrosis and muscle damage caused by glycogen accumulation were the major features of GSD IIIa in affected dogs. [236]

Pathology: In a normal dog, the release of glucagon stimulates the breakdown of glycogen. This breakdown happens through the work of phosphorylase and glycogen debranching enzyme. Dogs with GSD IIIa are deficient in glycogen debranching enzyme, so instead of breaking down glycogen into glucose, they accumulate abnormal glycogen particles. This mostly happens in liver and muscle, which are the tissues that have the highest levels of glycogen metabolism (Gregory et al., 2007). Livers of affected animals are dark red, enlarged, and friable, with smooth edges and a grainy surface appearance. On histologic examination, hepatocytes show global cellular swelling with diaphanous eosinophilic (foamy) cytoplasm, but no evidence of inflammation, fibrosis, or cytoplasmic fat. Glycogen accumulation is evident with PAS staining (Gregory et al., 2007). Glucose homeostasis may be sufficiently affected in times of stress to cause hypoglycemia. [236]

Control: Parents of affected dogs are obligate carriers, and siblings should be tested. Breeding of affected animals is not recommended. If a carrier must be bred, it is advised to breed that dog only to a dog that has tested as homozygous normal. [236]

Gen test: A test is available to detect the mutation. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3479617 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The causative mutation is an adenosine deletion causing premature termination of AGL translation (Gregory et al., 2007). There is an analogous human condition (OMIM# 232400). Evidence (references) - 2007. Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med — PubMed:PMID17338148 | DOI:10.1892/0891-6640(2007)21[40:gsdtii]2.0.co;2 — OMIA Phene_Article / Article - 1983. Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis — PubMed:PMID6408305 — OMIA Phene_Article / Article - 1977. [Glycogen storage disease (III ?) of dogs]. Jikken Dobutsu — PubMed:PMID267585 — OMIA Phene_Article / Article - 1976. Glycogenosis type III in the dog. Acta Vet Scand — PubMed:PMID181976 — OMIA Phene_Article / Article - 1976. Glycogenosis in the dog. Acta Vet Scand — PubMed:PMID1066041 — OMIA Phene_Article / Article - 2012. Characterization of a canine model of glycogen storage disease type IIIa. Dis Model Mech — PubMed:PMID22736456 | DOI:10.1242/dmm.009712 — OMIA Phene_Article / Article - 2014. Correction of glycogen storage disease type III with rapamycin in a canine model. J Mol Med (Berl) — PubMed:PMID24509886 | DOI:10.1007/s00109-014-1127-4 — OMIA Phene_Article / Article - 2016. Natural Progression of Canine Glycogen Storage Disease Type IIIa. Comp Med — PubMed:PMID26884409 — OMIA Phene_Article / Article - 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:232400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610860 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [236]

Czechoslovakian Wolfdog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Czechoslovakian Wolfdog (Dog) [68]

Czechoslovakian Wolfdog — Dwarfism, pituitary, LHX3-related; pituitary dwarfism (hereditary; OMIA-verified breed predisposition)

Disorder: Dwarfism, pituitary, LHX3-related; pituitary dwarfism [237]

Summary: see also [OMIA:000307-9615]Dwarfism, pituitary, generic and [OMIA:002315-9615]: Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris [237]

Clin feat: Dogs with homozygous LXH3 defects experience deficiency in pituitary hormone production, including GH, TSH and reproductive hormones (Voorbji et al., 2011). As a result of the primary insufficiency in GH, IGF levels are low in affected dogs compared to healthy dogs, leading to marked growth retardation with proportional dwarfism (Eigenmann et al., 1984; Voorbij and Kooistra, 2009). The affected puppies have normal growth during the first weeks, but the growth rate markedly slows down (Voorbij, Leegwater and Kooistra, 2014; Voorbij and Kooistra, 2009). Other characteristic clinical features include bilateral symmetrical alopecia mostly at the trunk, neck and proximal extremities, retention of secondary hair coat and lack of guard hairs (Voorbij and Kooistra, 2009). Concurrent problems such as hyperpigmentation, pyoderma, and scales may also occur (Voorbij and Kooistra, 2009). Some dogs develop neurological signs due to anatomical abnormalities in the atlanto-axial joint (Voorbij et al., 2015). [237]

Prevalence: Voorbij et al. (2011) reported that Seven dogs from a group of 37 unrelated GSD from the Dutch population with normal growth were carrier of the 7 bp deletion [omia.variant:363] (allele frequency = 0.094). Voorbij et al. (2014) reported that The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388303261 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Of the 137 genes annotated in the candidate region on CFA9 (see Mapping section above), only one was a likely candidate, namely "LHX3, a transcription factor essential for pituitary gland formation" (Voorbij et al., 2011). Sequencing revealed a causative variant (omia.variant:362) as "a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing the intron size to 68 bp . . . An exon trappin… Evidence (references) - 1979. Pituitary dwarfism. Vet Clin North Am Small Anim Pract — PubMed:PMID462708 | DOI:10.1016/s0195-5616(79)50004-7 — OMIA Phene_Article / Article - 2012. Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome — PubMed:PMID22105877 | DOI:10.1007/s00335-011-9376-9 — OMIA Phene_Article / Article - 2010. [Hypopituitarism associated dwarfism in German Shepherds, saarloos wolf dogs and Czechoslovakian wolf dogs. Access to genetic testing]. Tijdschr Diergeneeskd — PubMed:PMID21287722 — OMIA Phene_Article / Article - 2011. A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs. PLoS One — PubMed:PMID22132174 | DOI:10.1371/journal.pone.0027940 — OMIA Phene_Article / Article - 2009. Pituitary dwarfism in German Shepherd dogs. JCVS — OMIA Phene_Article / Article - 2014. Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med — PubMed:PMID25273400 | DOI:10.1111/jvim.12448 — OMIA Phene_Article / Article - 2015. Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation. J Vet Intern Med — PubMed:PMID25586673 | DOI:10.1111/jvim.12523 — OMIA Phene_Article / Article - 2021. Dwarfism in Tibetan Terrier dogs with an LHX3 mutation. J Vet Diagn Invest — PubMed:PMID33890524 | DOI:10.1177/10406387211007526 — OMIA Phene_Article / Article - 1984. Growth hormone and insulin-like growth factor I in German shepherd dwarf dogs. Acta Endocrinol (Copenh) — PubMed:PMID6322493 | DOI:10.1530/acta.0.1050289 — OMIA Phene_Article / Article - 2021. Wellbeing, quality of life, presence of concurrent diseases, and survival times in untreated and treated German Shepherd dogs with dwarfism. PLoS One — PubMed:PMID34370756 | DOI:10.1371/journal.pone.0255678 — OMIA Phene_Article / Article - 2024. A nonsynonymous substitution of Lhx3 leads to changes in body size in dogs and mice. Genes (Basel) — PubMed:PMID38927675 | DOI:10.3390/genes15060739 — OMIA Phene_Article / Article - 2025. Pituitary dwarfism and adrenocorticotropic hormone deficiency in a White Swiss Shepherd dog with LHX3 mutation. J Vet Intern Med — PubMed:PMID40833232 | DOI:10.1111/jvim.70193 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600577 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:221750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [237]

Czechoslovakian Wolfdog — Pituitary hormone deficiency, generic (hereditary; OMIA-verified breed predisposition)

Summary: see also OMIA entries that refer to gene-relaed forms of pituitary dwarfism, e.g. [OMIA:002315-9615]: Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris and [OMIA:002314-9615]: Dwarfism, pituitary, LHX3-related in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1976. Pituitary dwarfism in German Shepherd dogs : additional evidence of simple, autosomal recessive inheritance. Nordisk Veterinaermedicin — PubMed:PMID980693 — OMIA Phene_Article / Article - 1974. Pituitary dwarfism in German Shepherd dogs : genetic investigations. Nordisk Veterinaermedicin — PubMed:PMID4449724 — OMIA Phene_Article / Article - 1975. Pituitary dwarfism in German Shepherd dogs: studies on somatomedin activity. Nordisk Veterinaermedicin — PubMed:PMID1178442 — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs. Journal of Small Animal Practice — PubMed:PMID723236 — OMIA Phene_Article / Article - 1976. Somatomedin levels in dogs with pituitary dwarfism. Hereditas — OMIA Phene_Article / Article - 1975. Hereditary pituitary dwarfism in German Shepherd dogs. Hunden. Medlemsblad Dansk Kennel Klub — OMIA Phene_Article / Article - 1978. Origin and distribution of pituitary dwarfism in the dog and a basis for detecting carriers of various genetic diseases using biochemical methods. Kleintierpraxis — OMIA Phene_Article / Article - 1981. Diagnosis and treatment of dwarfism in a German Shepherd dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs: a genetic analysis of some Australian data. Journal of Small Animal Practice — PubMed:PMID642476 — OMIA Phene_Article / Article - 1990. Delayed growth in 2 German Shepherd dog littermates with normal serum concentrations of growth hormone, thyroxine, and cortisol.. J Am Vet Med Assoc — PubMed:PMID2295557 — OMIA Phene_Article / Article - 1991. Congenital hypothyroid dwarfism in a family of Giant Schnauzers.. J Vet Intern Med — PubMed:PMID2061865 | DOI:10.1111/j.1939-1676.1991.tb00932.x — OMIA Phene_Article / Article - 1993. Disturbed release of growth hormone in mature dogs - A comparison with congenital growth hormone deficiency.. Vet Rec — PubMed:PMID8116157 | DOI:10.1136/vr.133.22.542 — OMIA Phene_Article / Article - (23 additional references in OMIA) - 1976. Pituitary dwarfism in German Shepherd dogs : additional evidence of simple, autosomal recessive inheritance. Nordisk Veterinaermedicin — PubMed:PMID980693 — OMIA Phene_Article / Article - 1974. Pituitary dwarfism in German Shepherd dogs : genetic investigations. Nordisk Veterinaermedicin — PubMed:PMID4449724 — OMIA Phene_Article / Article - 1975. Pituitary dwarfism in German Shepherd dogs: studies on somatomedin activity. Nordisk Veterinaermedicin — PubMed:PMID1178442 — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs. Journal of Small Animal Practice — PubMed:PMID723236 — OMIA Phene_Article / Article - 1976. Somatomedin levels in dogs with pituitary dwarfism. Hereditas — OMIA Phene_Article / Article - 1975. Hereditary pituitary dwarfism in German Shepherd dogs. Hunden. Medlemsblad Dansk Kennel Klub — OMIA Phene_Article / Article - 1978. Origin and distribution of pituitary dwarfism in the dog and a basis for detecting carriers of various genetic diseases using biochemical methods. Kleintierpraxis — OMIA Phene_Article / Article - 1981. Diagnosis and treatment of dwarfism in a German Shepherd dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs: a genetic analysis of some Australian data. Journal of Small Animal Practice — PubMed:PMID642476 — OMIA Phene_Article / Article - 1990. Delayed growth in 2 German Shepherd dog littermates with normal serum concentrations of growth hormone, thyroxine, and cortisol. J Am Vet Med Assoc — PubMed:PMID2295557 — OMIA Phene_Article / Article - 1991. Congenital hypothyroid dwarfism in a family of Giant Schnauzers. J Vet Intern Med — PubMed:PMID2061865 | DOI:10.1111/j.1939-1676.1991.tb00932.x — OMIA Phene_Article / Article - 1993. Disturbed release of growth hormone in mature dogs - A comparison with congenital growth hormone deficiency. Vet Rec — PubMed:PMID8116157 | DOI:10.1136/vr.133.22.542 — OMIA Phene_Article / Article - (23 additional references in OMIA) - 1976. Pituitary dwarfism in German Shepherd dogs : additional evidence of simple, autosomal recessive inheritance. Nordisk Veterinaermedicin — PubMed:PMID980693 — OMIA Phene_Article / Article - 1974. Pituitary dwarfism in German Shepherd dogs : genetic investigations. Nordisk Veterinaermedicin — PubMed:PMID4449724 — OMIA Phene_Article / Article - 1975. Pituitary dwarfism in German Shepherd dogs: studies on somatomedin activity. Nordisk Veterinaermedicin — PubMed:PMID1178442 — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs. Journal of Small Animal Practice — PubMed:PMID723236 — OMIA Phene_Article / Article - 1976. Somatomedin levels in dogs with pituitary dwarfism. Hereditas — OMIA Phene_Article / Article - 1975. Hereditary pituitary dwarfism in German Shepherd dogs. Hunden. Medlemsblad Dansk Kennel Klub — OMIA Phene_Article / Article - 1978. Origin and distribution of pituitary dwarfism in the dog and a basis for detecting carriers of various genetic diseases using biochemical methods. Kleintierpraxis — OMIA Phene_Article / Article - 1981. Diagnosis and treatment of dwarfism in a German Shepherd dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs: a genetic analysis of some Australian data. Journal of Small Animal Practice — PubMed:PMID642476 — OMIA Phene_Article / Article - 1990. Delayed growth in 2 German Shepherd dog littermates with normal serum concentrations of growth hormone, thyroxine, and cortisol. J Am Vet Med Assoc — PubMed:PMID2295557 — OMIA Phene_Article / Article - 1991. Congenital hypothyroid dwarfism in a family of Giant Schnauzers. J Vet Intern Med — PubMed:PMID2061865 | DOI:10.1111/j.1939-1676.1991.tb00932.x — OMIA Phene_Article / Article - 1993. Disturbed release of growth hormone in mature dogs - A comparison with congenital growth hormone deficiency. Vet Rec — PubMed:PMID8116157 | DOI:10.1136/vr.133.22.542 — OMIA Phene_Article / Article - (23 additional references in OMIA) - 1976. Pituitary dwarfism in German Shepherd dogs : additional evidence of simple, autosomal recessive inheritance. Nordisk Veterinaermedicin — PubMed:PMID980693 — OMIA Phene_Article / Article - 1974. Pituitary dwarfism in German Shepherd dogs : genetic investigations. Nordisk Veterinaermedicin — PubMed:PMID4449724 — OMIA Phene_Article / Article - 1975. Pituitary dwarfism in German Shepherd dogs: studies on somatomedin activity. Nordisk Veterinaermedicin — PubMed:PMID1178442 — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs. Journal of Small Animal Practice — PubMed:PMID723236 — OMIA Phene_Article / Article - 1976. Somatomedin levels in dogs with pituitary dwarfism. Hereditas — OMIA Phene_Article / Article - 1975. Hereditary pituitary dwarfism in German Shepherd dogs. Hunden. Medlemsblad Dansk Kennel Klub — OMIA Phene_Article / Article - 1978. Origin and distribution of pituitary dwarfism in the dog and a basis for detecting carriers of various genetic diseases using biochemical methods. Kleintierpraxis — OMIA Phene_Article / Article - 1981. Diagnosis and treatment of dwarfism in a German Shepherd dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs: a genetic analysis of some Australian data. Journal of Small Animal Practice — PubMed:PMID642476 — OMIA Phene_Article / Article - 1990. Delayed growth in 2 German Shepherd dog littermates with normal serum concentrations of growth hormone, thyroxine, and cortisol. J Am Vet Med Assoc — PubMed:PMID2295557 — OMIA Phene_Article / Article - 1991. Congenital hypothyroid dwarfism in a family of Giant Schnauzers. J Vet Intern Med — PubMed:PMID2061865 | DOI:10.1111/j.1939-1676.1991.tb00932.x — OMIA Phene_Article / Article - 1993. Disturbed release of growth hormone in mature dogs - A comparison with congenital growth hormone deficiency. Vet Rec — PubMed:PMID8116157 | DOI:10.1136/vr.133.22.542 — OMIA Phene_Article / Article - (23 additional references in OMIA) - 1976. Pituitary dwarfism in German Shepherd dogs : additional evidence of simple, autosomal recessive inheritance. Nordisk Veterinaermedicin — PubMed:PMID980693 — OMIA Phene_Article / Article - 1974. Pituitary dwarfism in German Shepherd dogs : genetic investigations. Nordisk Veterinaermedicin — PubMed:PMID4449724 — OMIA Phene_Article / Article - 1975. Pituitary dwarfism in German Shepherd dogs: studies on somatomedin activity. Nordisk Veterinaermedicin — PubMed:PMID1178442 — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs. Journal of Small Animal Practice — PubMed:PMID723236 — OMIA Phene_Article / Article - 1976. Somatomedin levels in dogs with pituitary dwarfism. Hereditas — OMIA Phene_Article / Article - 1975. Hereditary pituitary dwarfism in German Shepherd dogs. Hunden. Medlemsblad Dansk Kennel Klub — OMIA Phene_Article / Article - 1978. Origin and distribution of pituitary dwarfism in the dog and a basis for detecting carriers of various genetic diseases using biochemical methods. Kleintierpraxis — OMIA Phene_Article / Article - 1981. Diagnosis and treatment of dwarfism in a German Shepherd dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1978. Pituitary dwarfism in German Shepherd dogs: a genetic analysis of some Australian data. Journal of Small Animal Practice — PubMed:PMID642476 — OMIA Phene_Article / Article - 1990. Delayed growth in 2 German Shepherd dog littermates with normal serum concentrations of growth hormone, thyroxine, and cortisol. J Am Vet Med Assoc — PubMed:PMID2295557 — OMIA Phene_Article / Article - 1991. Congenital hypothyroid dwarfism in a family of Giant Schnauzers. J Vet Intern Med — PubMed:PMID2061865 | DOI:10.1111/j.1939-1676.1991.tb00932.x — OMIA Phene_Article / Article - 1993. Disturbed release of growth hormone in mature dogs - A comparison with congenital growth hormone deficiency. Vet Rec — PubMed:PMID8116157 | DOI:10.1136/vr.133.22.542 — OMIA Phene_Article / Article - (23 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:221750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:221750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:221750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:221750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:221750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [238]

Dachshund — Acromelanism; Himalayan coat color/colour (hereditary; OMIA-verified breed predisposition)

Breed: Dachshund (Dog) [239]

Disorder: Acromelanism; Himalayan coat color/colour [239]

Mode of inheritance: Bychkova et al. (2020): The proband’s mother, which is black-and-tan, is a heterozygous carrier of the c.230A allele [omia.variant:1247]. [239]

Prevalence: Bychkova et al. (2020): none of the 210 dogs of different breeds, unrelated to the proband, carried the c.230A allele Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388198949 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bychkova et al. (2020): "Sequencing of the coding part of the TYR gene from the proband ["a dachshund with a unique coat color resembling the Himalayan type"] revealed a homozygous variant (c.230G > A) in exon 1, leading to an amino acid substitution (p.R77Q) in a conserved region of the protein [omia.variant:1247]."Van Buren et al. (2025) "investigated a family of rescue dogs that… Evidence (references) - 2002. Linkage mapping of TYR to dog chromosome 21. Anim Genet — PubMed:PMID12464032 | DOI:10.1046/j.1365-2052.2002.00938_8.x — OMIA Phene_Article / Article - 2020. Identification of a candidate genetic variant for the Himalayan color pattern in dogs. Gene — PubMed:PMID33039541 | DOI:10.1016/j.gene.2020.145212 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — OMIA Phene_Article / Article - 2025. A TYR-iffic discovery: Identification of a second TYR variant associated with acromelanism in dogs. Anim Genet — PubMed:PMID39709984 | DOI:10.1111/age.13496 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:203100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606952 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606933 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [239]

Dachshund — Brittle bone disease (hereditary; OMIA-verified breed predisposition)

Disorder: Brittle bone disease [240]

Summary: Several forms of osteogenesis imperfecta have been identified so far in dogs. See also 'OMIA000754-9615 Osteogenesis imperfecta, generic', 'OMIA002126-9615 Osteogenesis imperfecta, type III, COL1A1-related' and 'OMIA 002112-9615 Osteogenesis imperfecta, COL1A2-related' [240]

Clin feat: Clinical features include reduced agility, pain, spontaneous and intrauterine bone and teeth fractures, joint hyperlaxity, brittle, thin-walled primary teeth, and reduced bone density on radiography (Seeliger et al., 2003). Low bone mass and reduced bone strength leading to bone fragility and deformity can be observed (Lindert et al., 2015). other clinical signs include blue-grey sclera, progressive hearing loss, dwarfism, and other developmental complications (Drögemüller et al., 2009). Stillbirths have been reported to occur as part of this condition (Schütz et al., 2013). [240]

Pathology: Histologically collagen fibres are reduced in number but regularly patterned. Insufficient conversion of cartilage and connective tissue to bone is resulting in reduced bone mass and absence of mature bone tissue in both medullary and cortical regions. The dentine layer of the teeth is thin and missing a normal tubular pattern. The bone marrow has slightly increased density of all cell lines (Seeliger et al., 2003) [240]

Prevalence: Schütz et al. (2012) genotyped 591 German Dachshunds and estimated the frequency of the causative allele to be 8.86%. They also observed a significantly increased mortality rate among the offspring of carriers. Eckardt et al. (2013) reported the results of genotyping 1352 Dachshunds from 12 European countries for the causative mutation: The overall frequency of OI [osteogenesis imperfecta] carriers was 12.9 per cent. Across all different size varieties, the SERPINH1 mutation was over-represented in wire-haired dachshunds with 17.3 per cent OI carriers. Among the different countries, the proportion of OI carriers was highest in Germany with 20.4 per cent. As noted by Schütz et al. (2013), this estimate is consistent with the allele-frequency estimate of Schütz et al. (2012). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3483476 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Drögemüller et al. (2009) showed that this disorder in Dachsunds is due to a missense variant (c.977T>C, p.Leu326Pro) in a conserved domain of the SERPINH1 gene. SERPINH1 acts as a chaperone to assist in the correct assembly of the nascent procollagen chains (Widmer et al. 2012). Lindert et al. (2015) investigated the functional impact of the SERPINH1 variant in detail by studying fibroblast cultu… Evidence (references) - 2009. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet — PubMed:PMID19629171 | DOI:10.1371/journal.pgen.1000579 — OMIA Phene_Article / Article - 2013. Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec — PubMed:PMID23315765 | DOI:10.1136/vr.101122 — OMIA Phene_Article / Article - 2012. [Osteogenesis imperfecta in the Dachshund]. Kleintierpraxis — OMIA Phene_Article / Article - 2003. Osteogenesis imperfecta in two litters of dachshunds. Vet Pathol — PubMed:PMID12949410 | DOI:10.1354/vp.40-5-530 — OMIA Phene_Article / Article - 2012. [DNA testing for osteogenesis imperfecta in the Dachshund.]. Point Veterinaire — OMIA Phene_Article / Article - 2013. Osteogenesis imperfecta in dachshunds. Vet Rec — PubMed:PMID23525816 | DOI:10.1136/vr.f1823 — OMIA Phene_Article / Article - 2013. Osteogenesis imperfecta in dachshunds. J. Eckardt, S. Kluth, C. Dierks, U. Philipp and O. Distl comment. Vet Rec — PubMed:PMID23525818 | DOI:10.1136/vr.f1870 — OMIA Phene_Article / Article - 2015. Molecular consequences of the SERPINH1/HSP47 mutation in the dachshund natural model of osteogenesis imperfecta. J Biol Chem — PubMed:PMID26004778 | DOI:10.1074/jbc.M115.661025 — OMIA Phene_Article / Article - 2012. Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition. Proc Natl Acad Sci U S A — PubMed:PMID22847422 | DOI:10.1073/pnas.1208072109 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600943 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613848 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [240]

Dachshund — Neuronal ceroid lipofuscinosis, 1 (hereditary; OMIA-verified breed predisposition)

Summary: The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules, early neuronal death, and progressive neurodegeneration of the central nervous system. NCL1 is a rare disorder of dachshunds caused by severely deficient palmitoyl protein thioesterase (PPT1) activity. Signs appear as early as nine months of age, and include behavioral changes, nervousness, disorientation, ataxia, weakness, kyphosis, stiffness of gait, uncontrolled rhythmic head movements, and visual impairment. Fundic examination may show diffuse retinal thinning and retinal vessel degeneration. The mode of inheritance is autosomal recessive. There is no effective treatment. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [241]

Clin feat: Diffuse retinal thinning and severe retinal vessel degeneration were present at 7 months of age, followed by complete blindness at 8 months of age (Sanders et al., 2010). Additional signs appeared at nine months of age, including disorientation, ataxia, weakness, visual impairment, and behavioral changes. These progressed to kyphosis and stiffness in gait, uncontrolled rhythmic head movements, inability to recognize the owner, severe vision loss, sensitivity to loud noise, inappropriate vocalization, circling, loss of coordination and general weakness. There is no effective treatment. [241]

Pathology: The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules, early neuronal death, and progressive neurodegeneration of the central nervous system. Affected dogs are severely deficient in palmitoyl protein thioesterase (PPT1), a key enzyme in creating hydrophobic regions in proteins, allowing them to interact with membranes, participate in vesicular transport and signal transduction, and maintain cellular architecture. As a result of severely deficient PPT1 activity, autofluorescent material accumulates in neuronal lysosomes of the retina, cerebellum, and cerebral cortex, followed by progressive neurodegeneration (Sanders et al., 2010). The central retina maintains its normal thickness and structure, and has inclusions in many retinal layers, including photoreceptor inner segments, outer nuclear layer, and ganglion cell layer. The peripheral retina appears significantly thinned with loss of the photoreceptor cell layer and absence of normal structural layering (Sanders et al., 2010). Storage material is widely abundant in the cerebral cortex and cerebellum. In the latter, increased concentration was identified in the granular layer with little or no accumulation in Purkinje cells (Sanders et al., 2010). [241]

Prevalence: Thus far, one affected animal and three carriers from the same pedigree have been identified (Sanders et al., 2010). [241]

Control: Parents of affected dogs are obligate carriers. Siblings of affected animals should be tested. Breeding of affected or carrier dogs is not recommended. [241]

Dachshund — Neuronal ceroid lipofuscinosis, 2 (hereditary; OMIA-verified breed predisposition)

Clin feat: Progressive loss of vision under dim light begins in affected dogs at 6-7 months of age (Sanders et al., 2011). Unilaterally decreased menace response begins at 8 months of age, followed by intention and resting tremors of the head, and myoclonus. Cerebellar ataxia (dysmetria, incoordination) began at 9-10 months of age. Other neurological signs include altered cognitive function, motor dysfunction, and myoclonus. Tests of cognitive ability were significantly different from normal dogs at 6 months of age (Sanders et al., 2011). Other signs reported include seizures, hyperactivity, howling, aggressive behavior, hypermetria, circling, and diarrhea (Awano et al., 2006). No effective treatment has been identified, and affected dogs die by 12 months of age (Awano et al., 2006). Intrathecal administration of TPP1 caused a robust immune response and did not improve the overall function of treated dogs (Vuillemenot et al., 2011). [242]

Pathology: Affected dogs have less than 1% TPP1 activity in the cerebral cortex (Awano et al., 2006). Autofluorescent lysosomal storage occurs throughout the central nervous system. Some cerebral cortex cells have large storage bodies, but most have little to none. Storage material is present in all layers of the cerebellum, but only moderate in Purkinje cells. In the spinal cord, most autofluorescent storage is in large motor neurons. Curvilinear aggregates in the lysosomes are identified by electron microscopy (Awano et al., 2006, Vuillemenot et al., 2011). Histopathology of the cerebellum includes white matter depletion, decreased numbers of cortical neurons, a narrowed molecular layer, a sparsely populated internal granular layer, and irregularly spaced Purkinje cells. Larger neurons in the cerebrum and spinal cord contain coarse eosinophilic, PAS positive cytoplasmic granules (Awano et al., 2006). [242]

Prevalence: The mutation appears to be uncommon among miniature long-haired dachshunds (Awano et al., 2006). [242]

Dachshund — XY difference of sexual development, HSD17B3-related (hereditary; OMIA-verified breed predisposition)

Summary: Information about this condition was previously included under OMIA:001601-9615: XY differences of sexual development, generic in Canis lupus familiaris [28/09/2023] Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388302837 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Krzeminska et al. (2019): "The entire coding sequence and flanking regions of the introns, 5′‐UTR and 3′‐UTR [of "six genes of the testosterone pathway, encoding enzymes (CYP17A1, HSD3B2, HSD17B3, SRD5A2) and transcription factors (NR5A1, AR)"] were analyzed in five DSD dogs (78,XY, SRY‐positive) with ambiguous external genitalia and in 15 control dogs. A homozygous deletion of 2 bp in exon 2 of H… Evidence (references) - 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:264300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605573 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [243]

Dachshund, Miniature Long-Haired — Early-onset cone-rod dystrophy, RPGRIP1-CRD (hereditary; OMIA-verified breed predisposition)

Breed: Dachshund, Miniature Long-Haired (Dog) [244]

Disorder: Early-onset cone-rod dystrophy, RPGRIP1-CRD [244]

Clin feat: The earliest ophthalmoscopic signs, which include changes in the granular appearance of the tapetal fundus followed by generalized tapetal hyperreflectivity and retinal vascular attenuation, are detectable at approximately 6 months of age. The electroretinogram of affected dogs is typically normal in waveform and latency at 10 weeks of age but markedly reduced in amplitude or even virtually extinguished by 9 months. (Mellersh et al., 2006) [244]

Pathology: Significant histological changes are visible at 10.5 weeks of age, including thinning of the outer nuclear layer, irregularity and attenuation of the rod photoreceptor outer segments, and early disorganization of the rod outer segment disc lamellae, and by 25 weeks the photoreceptors are grossly degenerate. (Mellersh et al., 2006) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244116 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 388249508 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: In miniature longhaired dachshunds with this disorder, Mellersh et al. (2006) discovered a 44-bp insertion in exon 2 of the RPGRIP1 gene that encodes retinitis pigmentosa GTPase regulator-interacting protein 1. The insertion results in a frameshift, which in turn creates a premature stop codon. At the time, this appeared to be the causative mutation, and was so listed in OMIA. However, subsequent … Evidence (references) - 1993. Progressive retinal atrophy in miniature longhaired dachshund dogs. British Veterinary Journal — PubMed:PMID8439801 | DOI:10.1016/S0007-1935(05)80211-8 — OMIA Phene_Article / Article - 2006. Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics — PubMed:PMID16806805 | DOI:10.1016/j.ygeno.2006.05.004 — OMIA Phene_Article / Article - 2009. Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Mol Vis — PubMed:PMID19936303 — OMIA Phene_Article / Article - 2009. The RPGRIP1-deficient dog, a promising canine model for gene therapy. Mol Vis — PubMed:PMID19223988 — OMIA Phene_Article / Article - 2011. Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue. Invest Ophthalmol Vis Sci — PubMed:PMID21282582 | DOI:10.1167/iovs.10-6094 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 1965. Canine retinopathies–III. The other breeds. Journal of Small Animal Practice — OMIA Phene_Article / Article - 2007. Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund. Invest Ophthalmol Vis Sci — PubMed:PMID17724213 | DOI:10.1167/iovs.04-0737 — OMIA Phene_Article / Article - 2012. RPGRIP1 and cone-rod dystrophy in dogs. Adv Exp Med Biol — PubMed:PMID22183349 | DOI:10.1007/978-1-4614-0631-0_42 — OMIA Phene_Article / Article - 2012. Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. Mamm Genome — PubMed:PMID22193413 | DOI:10.1007/s00335-011-9384-9 — OMIA Phene_Article / Article - 2011. Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. Vet Ophthalmol — PubMed:PMID21521437 | DOI:10.1111/j.1463-5224.2010.00848.x — OMIA Phene_Article / Article - 2012. Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs. Invest Ophthalmol Vis Sci — PubMed:PMID22807295 | DOI:10.1167/iovs.12-10178 — OMIA Phene_Article / Article - (13 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:608194 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613826 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605446 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610070 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [244]

Dachshund, Miniature Smooth-Haired — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Dachshund, Miniature Smooth-Haired (Dog) [61]

Dachshund, Miniature Wire-Haired — Afibrinogenaemia, FGA-related (hereditary; OMIA-verified breed predisposition)

Breed: Dachshund, Miniature Wire-Haired (Dog) [245]

Summary: Mischke et al. (2021): “we present a family of miniature wire-haired Dachshunds segregating for congenital afibrinogenemia. We employed homozygosity mapping, a genome-wide association study (GWAS), and sequencing of fibrinogen genes in order to identify a mutation responsible for afibrinogenemia.” [245]

Clin feat: Mischke et al. (2021): “Three seven-week-old miniature wire-haired Dachshunds were presented … with excessive bleedings after fitting with a chip two days before. Two puppies were female and one male. One female died a few days later due to severe bleedings. The second female puppy survived up to an age of one year. Owners reported recurrent episodes with severe bleedings in the skin and gums. The third affected male puppy is under intensive veterinary care and still alive at the age of seven years despite intermittent severe bleeding episodes. … Case 4 … died from a hemoabdomen after a traumatic splenic rupture. [245]

Pathology: Mischke et al. (2021): In the affected dogs, PT Prothrombin time, aPTT [activated partial thromboplastin time], and TT [thrombin time assay] exceeded the upper limits of detection (200 s). PT measured with the optimized assay revealed increased or normal activities of factors II, V, VII, and X, respectively (case 1: 149%; case 2: 104%; case 3: 126%; 100% = average of normal adult dogs) and a moderate reduction in case 4 (44%, reference range in adult dogs: 75–130%). Fibrinogen concentration according to the coagulometric Clauss method was below the lowest detection limit in all four cases (0.2 g/L; reference 1.0–3.0 g/L). Platelet count was normal in all four affected animals suffering from bleeding complications.” Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244177 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Mischke et al. (2021): “Sanger sequencing of all three fibrinogen genes in two cases and validation of the FGA-associated mutation (FGA:g.6296delT, NC_006597.3:g.52240694delA, rs1152388481) in pedigree members showed a perfect co-segregation with afibrinogenemia-affected phenotypes, obligate carriers, and healthy animals. In addition, the rs1152388481 variant was validated in 393 Dachshunds and sa… Evidence (references) - 2021. An FGA frameshift variant associated with afibrinogenemia in Dachshunds. Genes (Basel) — PubMed:PMID34356081 | DOI:10.3390/genes12071065 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:134820 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:202400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [245]

Dachshund, Miniature — Dilute coat color with neurological defects (hereditary; OMIA-verified breed predisposition)

Breed: Dachshund, Miniature (Dog) [246]

Disorder: Dilute coat color with neurological defects [246]

Clin feat: Christen et al. (2021): A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated.. The puppy had visible coat color dilution and was unable to hold its head on its own or to remain in a stable prone position for an extended period. [246]

Pathology: Christen et al. (2021): Histopathological examination revealed an accumulation of clumped melanin and deposition of accumulated keratin within the hair follicles, accompanied by dermal pigmentary incontinence. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246333 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Christen et al. (2021) "sequenced the genome of the affected dog and compared the data to 795 control genomes. MYO5A, coding for myosin VA, was investigated as the top functional candidate gene. This search revealed a private homozygous frameshift variant in MYO5A, XM_022412522.1:c.4973_4974insA, predicted to truncate 269 amino acids (13.8%) of the wild type myosin VA protein, XP_022268230.1:p.(As… Evidence (references) - 1994. Cerebellar Purkinje cell degeneration and coat color dilution in a family of Rhodesian-Ridgeback dogs. J Vet Intern Med — PubMed:PMID8046673 | DOI:10.1111/j.1939-1676.1994.tb03207.x — OMIA Phene_Article / Article - 2021. MYO5A frameshift variant in a Miniature Dachshund with coat color dilution and neurological defects resembling human Griscelli syndrome type 1. Genes (Basel) — PubMed:PMID34680875 | DOI:10.3390/genes12101479 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:214450 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:160777 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [246]

Dachshund, Miniature — LGMD2D; alpha-sarcoglycanopathy (hereditary; OMIA-verified breed predisposition)

Disorder: LGMD2D; alpha-sarcoglycanopathy [247]

Clin feat: Clinical signs first becomes apparent in affected Miniature Dachshunds when they are young, at approximately 6 months of age, and is slowly progressive (Mickelson et al, 2021). Dogs with this disease will show signs such as exercise intolerance, a stiff gait, difficulty swallowing and pneumonia (Mickelson et al., 2021). Blood tests will show consistent high levels of the muscle enzyme, creatinine kinase (CK) in the blood and urine tests will show myoglobinuria, an excess of myoglobin indicating muscle breakdown (Mickelson et al, 2021). A marked and persistent elevation in CK, even if the dog is not showing clinical signs, may be an indicator of disease in young Miniature Dachshunds (Mickelson et al, 2021). [247]

Pathology: Mickelson et al. (2021): Pathological changes in muscle biopsies from the four affected miniature dachshunds were dystrophic in nature regardless of the clinical presentation.. Immunofluorescent antibody staining. showed a normal pattern for the dystrophin rod domain and patchy staining with the antibody against the c-terminus of dystrophin. Staining for utrophin and laminin α-2 was similar to control muscle. Clusters of regenerating fibers were highlighted with the antibody against developmental myosin heavy chain (dMHC). Staining for α-sarcoglycan and γ-sarcoglycan was absent and staining was decreased for β-sarcoglycan. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388304440 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Mickleson et al. (2021): "Genetic mapping and whole genome sequencing" in a "cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria" "identified a premature stop codon mutation in the sarcoglycan A subunit gene (SGCA)" as a likely causal variant. Evidence (references) - 2021. Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D. Skelet Muscle — PubMed:PMID33407862 | DOI:10.1186/s13395-020-00257-y — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608099 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600119 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [247]

Dalmatian — Also known as Acute respiratory distress syndrome (ARDS) (hereditary; OMIA-verified breed predisposition)

Breed: Dalmatian (Dog) [248]

Disorder: Also known as Acute respiratory distress syndrome (ARDS) [248]

Clin feat: Tachypnea and noisy respiration. Shortly before death: respiratory distress, characterized by strenuous and rapid respirations, together with cyanosis and vomiting. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249339 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Holopainen et al. (2017) "combined SNP-based homozygosity mapping of two ARDS-affected Dalmatian dogs and whole genome sequencing of one affected dog to identify a case-specific homozygous nonsense variant, c.31C>T; p.R11* in the ANLN gene. Subsequent analysis of the variant in a total cohort of 188 Dalmatians, including seven cases, indicated complete segregation of the variant with the disease a… Evidence (references) - 1995. Lung injury leading to respiratory distress syndrome in young Dalmatian dogs. Journal of Veterinary Internal Medicine — PubMed:PMID7674217 — OMIA Phene_Article / Article - 2009. Pulmonary histopathology in Dalmatians with familial acute respiratory distress syndrome (ARDS). J Comp Pathol — PubMed:PMID19628215 | DOI:10.1016/j.jcpa.2009.05.008 — OMIA Phene_Article / Article - 2017. ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. PLoS Genet — PubMed:PMID28222102 | DOI:10.1371/journal.pgen.1006625 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:616027 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [248]

Dalmatian — Dalmatian leukodystrophy; miniature poodle demyelination (hereditary; OMIA-verified breed predisposition)

Disorder: Dalmatian leukodystrophy; miniature poodle demyelination [249]

Summary: Information about canine spongiform leukoencephalomyelopathy or Shetland Sheepdog leukodystrophy in Shetland Sheepdogs and Australian cattle dogs due to mutations in the mitochondrial CYTB gene have been moved to 'OMIA:002684-9615: Leukodystrophy, CYTB-related in Canis lupus familiaris'. Other forms of leukodystrophy exist and have separate entries. [3/5/2023] Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1977. Hereditary 'cavitating' leucodystrophy in Dalmatian dogs: light and electron microscopic studies. Acta Neuropathologia — OMIA Phene_Article / Article - 1961. Idiopathic demyelination of brain-stem and spinal cord in a Miniature Poodle puppy. J Pathol Bacteriol — PubMed:PMID13724072 | DOI:10.1002/path.1700820109 — OMIA Phene_Article / Article - 1977. Inherited necrotizing myelopathy of Afghan Hounds.. J Neuropathol Exp Neurol — PubMed:PMID886368 | DOI:10.1097/00005072-197707000-00008 — OMIA Phene_Article / Article - 1987. Myeloencephalopathy with eosinophilic refractile bodies (Rosenthal fibers) in a Scottish terrier.. J Am Vet Med Assoc — PubMed:PMID3570949 — OMIA Phene_Article / Article - 1977. Hereditary 'cavitating' leucodystrophy in Dalmatian dogs: light and electron microscopic studies. Acta Neuropathologia — OMIA Phene_Article / Article - 1961. Idiopathic demyelination of brain-stem and spinal cord in a Miniature Poodle puppy. J Pathol Bacteriol — PubMed:PMID13724072 | DOI:10.1002/path.1700820109 — OMIA Phene_Article / Article - 1977. Inherited necrotizing myelopathy of Afghan Hounds. J Neuropathol Exp Neurol — PubMed:PMID886368 | DOI:10.1097/00005072-197707000-00008 — OMIA Phene_Article / Article - 1987. Myeloencephalopathy with eosinophilic refractile bodies (Rosenthal fibers) in a Scottish terrier. J Am Vet Med Assoc — PubMed:PMID3570949 — OMIA Phene_Article / Article - 1977. Hereditary 'cavitating' leucodystrophy in Dalmatian dogs: light and electron microscopic studies. Acta Neuropathologia — OMIA Phene_Article / Article - 1961. Idiopathic demyelination of brain-stem and spinal cord in a Miniature Poodle puppy. J Pathol Bacteriol — PubMed:PMID13724072 | DOI:10.1002/path.1700820109 — OMIA Phene_Article / Article - 1977. Inherited necrotizing myelopathy of Afghan Hounds. J Neuropathol Exp Neurol — PubMed:PMID886368 | DOI:10.1097/00005072-197707000-00008 — OMIA Phene_Article / Article - 1987. Myeloencephalopathy with eosinophilic refractile bodies (Rosenthal fibers) in a Scottish terrier. J Am Vet Med Assoc — PubMed:PMID3570949 — OMIA Phene_Article / Article - 1977. Hereditary 'cavitating' leucodystrophy in Dalmatian dogs: light and electron microscopic studies. Acta Neuropathologia — OMIA Phene_Article / Article - 1961. Idiopathic demyelination of brain-stem and spinal cord in a Miniature Poodle puppy. J Pathol Bacteriol — PubMed:PMID13724072 | DOI:10.1002/path.1700820109 — OMIA Phene_Article / Article - 1977. Inherited necrotizing myelopathy of Afghan Hounds. J Neuropathol Exp Neurol — PubMed:PMID886368 | DOI:10.1097/00005072-197707000-00008 — OMIA Phene_Article / Article - 1987. Myeloencephalopathy with eosinophilic refractile bodies (Rosenthal fibers) in a Scottish terrier. J Am Vet Med Assoc — PubMed:PMID3570949 — OMIA Phene_Article / Article - 1977. Hereditary 'cavitating' leucodystrophy in Dalmatian dogs: light and electron microscopic studies. Acta Neuropathologia — OMIA Phene_Article / Article - 1961. Idiopathic demyelination of brain-stem and spinal cord in a Miniature Poodle puppy. J Pathol Bacteriol — PubMed:PMID13724072 | DOI:10.1002/path.1700820109 — OMIA Phene_Article / Article - 1977. Inherited necrotizing myelopathy of Afghan Hounds. J Neuropathol Exp Neurol — PubMed:PMID886368 | DOI:10.1097/00005072-197707000-00008 — OMIA Phene_Article / Article - 1987. Myeloencephalopathy with eosinophilic refractile bodies (Rosenthal fibers) in a Scottish terrier. J Am Vet Med Assoc — PubMed:PMID3570949 — OMIA Phene_Article / Article [249]

Dalmatian — Dwarfism, PRKG2-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Rudd Garces et al. (2021) investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes. Mäkeläinen et al. (2025): affected [Dalmation] dogs had short legs and showed clear gait abnormalities. The front legs were curved with an outward-angled elbow joint and an outward rotation of the paw. Due to the severity of the condition, the affected dogs were euthanized. [250]

Pathology: Mäkeläinen et al. (2025): Microscopically, the growth plates of the distal ulna and radius [of affected Dalmation dogs] were irregular showing disorganized areas of resting, proliferative and hypertrophic zones.. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253078 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Rudd Garces et al. (2021): "The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed dwarfism. This variant, PRKG2:XM_022413533.1:c.1634+1G>T [omia.variant:1373], affects the splice donor site and is therefore predicted to disrupt the function of the PKRG2 gene .... "Mäkelä… Evidence (references) - 2021. PRKG2 splice site variant in Dogo Argentino dogs with disproportionate dwarfism. Genes (Basel) — PubMed:PMID34680883 | DOI:10.3390/genes12101489 — OMIA Phene_Article / Article - 2025. A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. PLoS One — PubMed:PMID41296694 | DOI:10.1371/journal.pone.0322107 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601591 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [250]

Dalmatian — Leukodystrophy, cavitating (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: Bjerkås (1977): The disease is probably transmitted by autosomal recessive inheritance. [251]

Clin feat: Bjerkås (1977): The symptoms started at the age of 3-6 months and were dominated by visual deficiency and/or progressive locomotive abnormalities. [251]

Pathology: Bjerkås (1977): the most consistent lesions were found bilaterally in the region of the centrum semiovale. The optic nerves were also frequently affected, the basal ganglia and spinal cord were affected infrequently. The main lesions were confined to myelin, while axons and nerve cells were spared, particularly in the early stages of the lesions. Numerous phagocytes were observed which contained engulfed myelin and other lipid breakdown products. Ultrastructurally and histochemically the disease differs from previously described types of leucodystrophy. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1974. Hereditary myelin defect in Dalmatian dogs in Norway. Proceedings of the 12th Nordic Veterinary Congress, Reykjavik — OMIA Phene_Article / Article - 1979. Hereditary leukodystrophy in Dalmatian dogs in Norway. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 1977. Hereditary "cavitating" leucodystrophy in Dalmation dogs. Light and electron microscopic studies.. Acta Neuropathol — PubMed:PMID930564 | DOI:10.1007/bf00688706 — OMIA Phene_Article / Article - 1974. Hereditary myelin defect in Dalmatian dogs in Norway. Proceedings of the 12th Nordic Veterinary Congress, Reykjavik — OMIA Phene_Article / Article - 1979. Hereditary leukodystrophy in Dalmatian dogs in Norway. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 1977. Hereditary "cavitating" leucodystrophy in Dalmation dogs. Light and electron microscopic studies. Acta Neuropathol — PubMed:PMID930564 | DOI:10.1007/bf00688706 — OMIA Phene_Article / Article - 1974. Hereditary myelin defect in Dalmatian dogs in Norway. Proceedings of the 12th Nordic Veterinary Congress, Reykjavik — OMIA Phene_Article / Article - 1979. Hereditary leukodystrophy in Dalmatian dogs in Norway. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 1977. Hereditary "cavitating" leucodystrophy in Dalmation dogs. Light and electron microscopic studies. Acta Neuropathol — PubMed:PMID930564 | DOI:10.1007/bf00688706 — OMIA Phene_Article / Article - 1974. Hereditary myelin defect in Dalmatian dogs in Norway. Proceedings of the 12th Nordic Veterinary Congress, Reykjavik — OMIA Phene_Article / Article - 1979. Hereditary leukodystrophy in Dalmatian dogs in Norway. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 1977. Hereditary "cavitating" leucodystrophy in Dalmation dogs. Light and electron microscopic studies. Acta Neuropathol — PubMed:PMID930564 | DOI:10.1007/bf00688706 — OMIA Phene_Article / Article - 1974. Hereditary myelin defect in Dalmatian dogs in Norway. Proceedings of the 12th Nordic Veterinary Congress, Reykjavik — OMIA Phene_Article / Article - 1979. Hereditary leukodystrophy in Dalmatian dogs in Norway. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 1977. Hereditary "cavitating" leucodystrophy in Dalmation dogs. Light and electron microscopic studies. Acta Neuropathol — PubMed:PMID930564 | DOI:10.1007/bf00688706 — OMIA Phene_Article / Article [251]

Dalmatian — Lysosomal storage disease, CNP-related (hereditary; OMIA-verified breed predisposition)

Summary: Bullock et al. (2022) report a progressive neurological disorder in purebred Dalmatian dogs with similarities to the neuronal ceroid lipofuscinoses. Keller et al. (2024) report a Weimaraner with the same condition caused by a different variant in the CNP gene. [252]

Clin feat: Bullock et al. (2022): “The disease [in Dalmatians] is characterized by anxiety, pacing and circling, hypersensitivity, cognitive decline, sleep disturbance, loss of coordination, loss of control over urination and defecation, and visual impairment. Neurological signs first became apparent when the dogs were approximately 18 months of age and progressed slowly. Two affected littermates were euthanized at approximately 7 years, 5 months and 8 years, 2 months of age due to the severity of neurological impairment. The mother of the affected dogs and four other relatives exhibited milder, later-onset neurological signs.” Keller et al. (2024) report a male Weimaraner: Clinical signs included fecal incontinence, lethargy, moderate paraparesis, proprioceptive pelvic limb ataxia, falling, cognitive decline, incoordination, decreased interest in food, changes in posture, and episodes of trance-like behavior. Neurologic signs were first observed at approximately 4 years, 10 months of age and progressed slowly. Magnetic resonance imaging showed generalized brain atrophy with areas of white matter pathology. Humane euthanasia was elected at 6 years, 7 months of age due to increasing severity of the neurological signs [252]

Pathology: Bullock et al. (2022): “Pronounced accumulations of autofluorescent intracellular inclusions were found in cerebral cortex, cerebellum, optic nerve, and cardiac muscle of the affected [Dalmatian] dogs. These inclusions co-localized with immunolabeling of the lysosomal marker protein LAMP2 and bound antibodies to mitochondrial ATPase subunit c, indicating that the dogs suffered from a lysosomal storage disease with similarities to the neuronal ceroid lipofuscinoses. Ultrastructural analysis indicated that the storage bodies were surrounded by a single-layer membrane, but the storage granules were distinct from those reported for other lysosomal storage diseases.” Keller et al. (2024) report histopathological findings in the affected Weimaraner: Autofluorescent intracellular granules were observed in the cerebral and cerebellar cortexes, optic nerve, and cardiac muscle of the affected dog. These abnormal inclusions in the cerebral cortex and cardiac muscle immunolabeled with antibodies to mitochondrial ATP synthase subunit c protein, like that observed in the neuronal ceroid lipofuscinosis group of lysosomal storage diseases. Immunolabeling also demonstrated pronounced neuroinflammation in brain tissues. The ultrastructural appearances of the disease-related inclusion bodies in the brain and optic nerve were quite variable. The ultrastructure and locations of many of the inclusions in the nervous tissues suggested that they were derived, at least in part, from the myelin surrounding axons. The storage bodies in the cardiac muscle were located in mitochondria-rich regions and consisted of parallel arrays of membrane-like components interspersed with electron-dense flocculent material. The disease was characterized by pronounced abnormalities in the myelin of the brain and optic nerve consisting of distinctive areas of ballooning between the layers of myelin. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388303336 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bullock et al. (2022): “ Whole genome sequences, generated with DNA from the two euthanized Dalmatians, both contained a rare, homozygous single-base deletion and reading-frame shift in CNP … . The late-onset disease was exhibited by five of seven related Dalmatians that were heterozygous for the deletion allele and over 8 years of age, whereas none of 16 age-matched reference-allele homozygotes d… Evidence (references) - 2022. Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs. Gene — PubMed:PMID35447247 | DOI:10.1016/j.gene.2022.146513 — OMIA Phene_Article / Article - 2024. Homozygous CNP mutation and neurodegeneration in Weimaraners: Myelin abnormalities and accumulation of lipofuscin-like inclusions. Genes (Basel) — PubMed:PMID38397235 | DOI:10.3390/genes15020246 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:619071 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:123830 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [252]

Dandie Dinmont Terrier — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)

Breed: Dandie Dinmont Terrier (Dog) [137]

Danish/swedish Farm Dog — Pelger-Huet anomaly (hereditary; OMIA-verified breed predisposition)

Breed: Danish/swedish Farm Dog (Dog) [125]

Deutscher Wachtelhund — Glycogen storage disease VII (hereditary; OMIA-verified breed predisposition)

Breed: Deutscher Wachtelhund (Dog) [84]

Doberman Pinscher — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Doberman Pinscher (Dog) [68]

Doberman Pinscher — DINGS (hereditary; OMIA-verified breed predisposition)

Disorder: DINGS [253]

Summary: See also: [OMIA:002196-9615]: Deafness, unilateral and vestibular dysfunction, PTPRQ-related in Canis lupus familiaris (dog) [253]

Prevalence: Webb et al. (2019): Of 632 [unaffected Doberman Pinscher] dogs tested, none were homozygous. We found that 62 dogs were heterozygous for the mutation, suggesting an allele frequency of 4.9% (62/1224 chromosomes sampled) and a carrier frequency in the breed of nearly 10%. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388251254 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Analysis of sequence in the mapped region of an affected Doberman Pinscher enabled Webb et al. (2019) to identify a missence mutation in the MYO7A gene (c.3719G>A; p.R1240Q) as the likely causal variant. All affected dogs were homozygous for this variant. Evidence (references) - 1992. Congenital deafness and vestibular deficit in the Dobermann. Journal of Small Animal Practice — DOI:10.1111/j.1748-5827.1992.tb01120.x — OMIA Phene_Article / Article - 2005. Congenital sensorineural deafness in dogs: a molecular genetic approach toward unravelling the responsible genes. Vet J — PubMed:PMID15727910 | DOI:10.1016/j.tvjl.2004.01.015 — OMIA Phene_Article / Article - 2012. Canine deafness. Vet Clin North Am Small Anim Pract — PubMed:PMID23122177 | DOI:10.1016/j.cvsm.2012.08.010 — OMIA Phene_Article / Article - 2019. A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. Can J Vet Res — PubMed:PMID31097876 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:276900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600060 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601317 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:276903 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [253]

Doberman Pinscher — Deafness, unilateral and vestibular dysfunction, PTPRQ-related' (hereditary; OMIA-verified breed predisposition)

Summary: See also: [OMIA:002148-9615]: Deafness, bilateral, and vestibular dysfunction, MYO7A-related [254]

Prevalence: Guevar et al. (2018): Prevalence of the variant was 1.5% in a cohort of 202 unaffected Doberman Pinschers; all unaffected Doberman Pinschers were heterozygous or heterozygous for the reference allele. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249459 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Guvear et al. (2018): "WGS [whole-genome sequencing of one affected dog] and variant filtering [against 154 normal dogs] identified an alteration in a gene associated with both deafness and vestibular disease in humans: protein tyrosine phosphatase, receptor type Q (PTPRQ). There was a homozygous A insertion at CFA15: 22 989 894, causing a frameshift mutation in exon 39 of the gene. This insertion… Evidence (references) - 2018. Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene. J Vet Intern Med — PubMed:PMID29460419 | DOI:10.1111/jvim.15060 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613391 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617663 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603317 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [254]

Doberman Pinscher — Disease is also called Type 1 von Willebrand Disease, vWDI, angiohaemophillia, von Willebrand disorder, von Willebrand factor deficiency (hereditary; OMIA-verified breed predisposition)

Disorder: Disease is also called Type 1 von Willebrand Disease, vWDI, angiohaemophillia, von Willebrand disorder, von Willebrand factor deficiency [255]

Clin feat: Type I von Willebrand disease involves a quantitative partial deficiency of von Willebrand factor, which is a protein involved in blood clotting (Boudreaux, 2012). Clinical features can be characterised as increased bleeding tendency. However, this can be variable. Excessive prolonged bleeding from minor wounds, tooth eruptions, heat or surgical incision are observed in clinically affected dogs with low vWF (Barr & McMichael, 2012; Dodds, 1984). Sudden gingival bleeding, epistaxis, gastrointestinal bleeding, haematuria, subcutaneous haematomas, petechiae can also occur (Thomas, 1996). VWD poses a significant risk in surgery or trauma, where clotting function is very important (Thomas, 1996). Treatment of affected dogs is possible (Thomas, 1996). [255]

Pathology: Platelet count, prothrombin and partial thromboplastin times are usually normal in dogs with vWDI (Burgess et al., 2009). Buccal mucosal bleeding time (BMBT) can be used to determine haemostatic ability. A positive BMBT can indicate vWDI but requires further coagulative tests as it can be present with other coagulopathies. BMBT can also be normal in mild cases (Thomas, 1996). A decreased level of vWF is detected in a vWF:Ag assay with abnormal values of <50% and values of <35% at notable risk of bleeding. vWD dogs will have normal to slightly elevated vWF antigen to collagen binding activity ratios (Burgess et al., 2009). [255]

Control: Use of DNA diagnostics as a sole diagnostic tool for vWDI is not advised as the c.7437A variant has been reported to be only partially associated with the disorder in the Doberman Pinscher breed and the Kromfohrländer breed (incomplete penetrance). Quantification of plasma vWF and in vivo and in vitro tests of vWF-dependent platelet function should be used to diagnose the disease and results from such tests may inform future breeding decissions. This may include von Willebrand factor (vWF) antigen (Ag) test, vwF collagen binding assay, buccal mucosal bleeding time (BMBT), complete blood count (CBC), prothrombin (PT) and partial thromboplastin times (PTT), platelet function analysis (PFA-100) (Thomas, 1996; Burgess et al., 2009) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: F8VWF (Entrez Gene ID 399544) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: As reported by Boudreaux (2012), a likely causal mutation for this disorder in Doberman Pinchers was reported in US Patent 6074832, submitted by Brewer et al. (Michigan State University) in 2000. According to the patent, the actual mutation is a synonymous base substitution at nucleotide 7437 in exon 43 (Ser 2479) of the VWF gene, which decreases the effectiveness of a splice site. Gentilini and T… Evidence (references) - 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost — PubMed:PMID8128434 — OMIA Phene_Article / Article - 1995. Measurement of von Willebrand factor-specific mRNA and release and storage of von Willebrand factor from endothelial cells of dogs with type-I von Willebrands disease. American Journal of Veterinary Research — PubMed:PMID8599517 — OMIA Phene_Article / Article - 1998. Plasma von-Willebrand-factor changes during various reproductive cycle stages in mixed-breed dogs with normal von-Willebrand-factor and in Doberman Pinschers with type-I von-Willebrands-disease. American Journal of Veterinary Research — PubMed:PMID9442254 — OMIA Phene_Article / Article - 1998. Efficacy of fresh-frozen plasma and cryoprecipitate in dogs with Von-Willebrands-disease or hemophilia a. Journal of Veterinary Internal Medicine — PubMed:PMID9560764 — OMIA Phene_Article / Article - 1999. A review of canine inherited bleeding disorders: Biochemical and molecular strategies for disease characterization and carrier detection. J Hered — PubMed:PMID9987916 | DOI:10.1093/jhered/90.1.112 — OMIA Phene_Article / Article - 1999. Desmopressin enhances the binding of plasma von Willebrand factor to collagen in plasmas from normal dogs and dogs with Type I von Willebrand's disease. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 2000. Inheritance of von Willebrand's disease in a colony of Doberman Pinschers. Am J Vet Res — PubMed:PMID10685679 | DOI:10.2460/ajvr.2000.61.115 — OMIA Phene_Article / Article - 2000. Combined von Willebrand disease and factor XII deficiency (vWD San Diego) in the dog and humans [German]. Praktische Tierarzt — OMIA Phene_Article / Article - 2001. von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers. American Journal of Veterinary Research — PubMed:PMID11277201 — OMIA Phene_Article / Article - 2002. Effect of desmopressin acetate administration on primary hemostasis in Doberman Pinschers with type-1 von Willebrand disease as assessed by a point-of-care instrument. American Journal of Veterinary Research — PubMed:PMID12492285 — OMIA Phene_Article / Article - 2005. Effect of desmopressin on von Willebrand factor multimers in Doberman Pinschers with type 1 von Willebrand disease. Am J Vet Res — PubMed:PMID15938072 — OMIA Phene_Article / Article - 2004. Detection of von Willebrand disease (vWD) in Doberman, Manchester Terrier and Poodle. Kleintierpraxis — OMIA Phene_Article / Article - (22 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:193400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613160 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [255]

Doberman Pinscher — Ligneous membranitis (hereditary; OMIA-verified breed predisposition)

Summary: Ainsworth et al. (2015) Ligneous membranitis (LM) is a rare chronic inflammatory condition of the mucous membranes associated with plasminogen (encoded by PLG) deficiency in affected humans and dogs.. We identified related Scottish Terriers (littermates) with severe LM and unaffected relatives (sire, dam and a sibling from a previous litter).. Sequencing of PLG from the affected dogs revealed a homozygous A>T single nucleotide polymorphism in an intron donor site (c.1256+2T>A). Turba et al. (2021): LM was diagnosed in a 7-month-old male Maltese dog. The dog was examined for severe recurrent conjunctivitis. A diagnosis of ligneous conjunctivitis was made by an ophthalmologist after a thorough eye examination and was confirmed by a complete lack of plasma activity of plasminogen. The main local signs were redness of the conjunctiva with persistent membranes having ligneous (wood-like) membranes on the eyes. The disease was associated with a complex rearrangement involving the plasminogen gene loci, causing the complete deletion of exon 1. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388199107 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Ainsworth et al. (2015): an A>T SNP in an intron donor site (c.1256+2T>A) Turba et al. (2021): a deletion of 5986 bp involving exon 1 and the flanking region Evidence (references) - 1996. Ligneous conjunctivitis in four Doberman pinschers. J Am Anim Hosp Assoc — PubMed:PMID8875361 | DOI:10.5326/15473317-32-5-439 — OMIA Phene_Article / Article - 2008. Ligneous conjunctivitis secondary to a congenital plasminogen deficiency in a dog. J Am Vet Med Assoc — PubMed:PMID18312178 | DOI:10.2460/javma.232.5.715 — OMIA Phene_Article / Article - 1998. The effect of compression ratio and release time on the categorical rating of sound quality. J Acoust Soc Am — PubMed:PMID9604341 | DOI:10.1121/1.422745 — OMIA Phene_Article / Article - 2016. Features and outcome of a glomerulonephropathy associated with ligneous conjunctivitis in a Doberman pinscher dog. Can Vet J — PubMed:PMID27152037 — OMIA Phene_Article / Article - 2016. Presentation, clinical pathological and post-mortem findings in three related Scottish terriers with ligneous membranitis. J Small Anim Pract — PubMed:PMID26840763 | DOI:10.1111/jsap.12443 — OMIA Phene_Article / Article - 2015. Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene. Anim Genet — PubMed:PMID26360520 | DOI:10.1111/age.12339 — OMIA Phene_Article / Article - 2012. Genetics of ligneous membranitis in a family of Scottish terriers. J Small Anim Pract — PubMed:PMID23898908 | DOI:10.1111/j.1748-5827.2012.01309.x — OMIA Phene_Article / Article - 2012. Ligneous membranitis in Scottish terriers. Vet Rec — PubMed:PMID22890402 | DOI:10.1136/vr.e5382 — OMIA Phene_Article / Article - 2009. Ligneous conjunctivitis in a plasminogen-deficient dog: clinical management and 2-year follow-up. Vet Ophthalmol — PubMed:PMID19604341 | DOI:10.1111/j.1463-5224.2009.00700.x — OMIA Phene_Article / Article - 2021. A large deletion in the plasminogen gene is associated with ligneous membranitis in a Maltese dog. Anim Genet — PubMed:PMID34370320 | DOI:10.1111/age.13130 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:217090 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:173350 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [256]

Doberman Pinscher — Mannosidosis, alpha (hereditary; OMIA-verified breed predisposition)

Clin feat: Bullock et al. (2023): A 7-month-old Doberman Pinscher dog presented with progressive neurological signs and brain atrophy suggestive of a hereditary neurodegenerative disorder. The dog was euthanized due to the progression of disease signs. [257]

Pathology: Bullock et al. (2023): Microscopic examination of tissues [from the affected Doberman Pinscher]. revealed massive accumulations of vacuolar inclusions in cells throughout the central nervous system, suggestive of a lysosomal storage disorder.. In addition to the vacuolar inclusions characteristic of α-mannosidosis, the dog exhibited accumulations of autofluorescent intracellular inclusions in some of the same tissues. The autofluorescence was similar to that which occurs in a group of lysosomal storage disorders called neuronal ceroid lipofuscinoses (NCLs). As in many of the NCLs, some of the storage bodies immunostained strongly for mitochondrial ATP synthase subunit c protein. This protein is not a substrate for α-mannosidase, so its accumulation and the development of storage body autofluorescence were likely due to a generalized impairment of lysosomal function secondary to the accumulation of α-mannosidase substrates.. In addition to storage body accumulation, glial activation indicative of neuroinflammation was observed in the brain and spinal cord of the proband. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388251065 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bullock et al. (2023): "A whole genome sequence generated with DNA from the affected [Doberman Pinscher] dog contained a likely causal, homozygous missense variant in MAN2B1 that predicted an Asp104Gly amino acid substitution that was unique among whole genome sequences from over 4000 dogs. A lack of detectable α-mannosidase enzyme activity confirmed a diagnosis of a-mannosidosis." Evidence (references) - 2023. A homozygous MAN2B1 missense mutation in a Doberman Pinscher dog with neurodegeneration, cytoplasmic vacuoles, autofluorescent storage granules, and an α-mannosidase deficiency. Genes (Basel) — PubMed:PMID37761886 | DOI:10.3390/genes14091746 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:248500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609458 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [257]

Doberman Pinscher — Polyglandular autoimmune syndrome, type II (hereditary; OMIA-verified breed predisposition)

Summary: see also 'OMIA 001808-9615: Multiple autoimmune diseases syndrome in Canis lupus familiaris' Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1995. Hypoadrenocorticism in a family of Leonbergers.. J Am Anim Hosp Assoc — PubMed:PMID7552661 | DOI:10.5326/15473317-31-4-301 — OMIA Phene_Article / Article - 2016. Polyglandular endocrinopathy type II (Schmidt's syndrome) in a Dobermann pinscher.. J Small Anim Pract — PubMed:PMID27487017 | DOI:10.1111/jsap.12535 — OMIA Phene_Article / Article - 1995. Hypoadrenocorticism in a family of Leonbergers. J Am Anim Hosp Assoc — PubMed:PMID7552661 | DOI:10.5326/15473317-31-4-301 — OMIA Phene_Article / Article - 2016. Polyglandular endocrinopathy type II (Schmidt's syndrome) in a Dobermann pinscher. J Small Anim Pract — PubMed:PMID27487017 | DOI:10.1111/jsap.12535 — OMIA Phene_Article / Article - 1995. Hypoadrenocorticism in a family of Leonbergers. J Am Anim Hosp Assoc — PubMed:PMID7552661 | DOI:10.5326/15473317-31-4-301 — OMIA Phene_Article / Article - 2016. Polyglandular endocrinopathy type II (Schmidt's syndrome) in a Dobermann pinscher. J Small Anim Pract — PubMed:PMID27487017 | DOI:10.1111/jsap.12535 — OMIA Phene_Article / Article - 1995. Hypoadrenocorticism in a family of Leonbergers. J Am Anim Hosp Assoc — PubMed:PMID7552661 | DOI:10.5326/15473317-31-4-301 — OMIA Phene_Article / Article - 2016. Polyglandular endocrinopathy type II (Schmidt's syndrome) in a Dobermann pinscher. J Small Anim Pract — PubMed:PMID27487017 | DOI:10.1111/jsap.12535 — OMIA Phene_Article / Article - 1995. Hypoadrenocorticism in a family of Leonbergers. J Am Anim Hosp Assoc — PubMed:PMID7552661 | DOI:10.5326/15473317-31-4-301 — OMIA Phene_Article / Article - 2016. Polyglandular endocrinopathy type II (Schmidt's syndrome) in a Dobermann pinscher. J Small Anim Pract — PubMed:PMID27487017 | DOI:10.1111/jsap.12535 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [258]

Dogo Argentino — Congenital sensorineural deafness (hereditary; OMIA-verified breed predisposition)

Breed: Dogo Argentino (Dog) [106]

Dogue de Bordeaux — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)

Breed: Dogue de Bordeaux (Dog) [76]

Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (hereditary; OMIA-verified breed predisposition)

Clin feat: Plassais et al. (2015): The onset usually occurred between 10 weeks and 1 year of age. First described by Paradis (1992), affected dogs exhibit a painful thickening of the footpads with severe keratinous proliferations and fissures only at the ground contact locations similar to those observed in FNEPPK patients.... Cracks predispose the dogs to secondary infections, leading to lameness, causing the dog to be reluctant to walk. Nails did not seem to be affected... Similarly, no other cutaneous sign such as oral leukoplakia, cysts, or follicular keratosis was reported. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388255238 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Plassais et al. (2015) "carried out mutation screening on several keratins [located in the candidate region of CFA9] in 14 affected dogs and 16 controls and identified a complex mutation in KRT16 corresponding to an insertion/deletion (indel) of four nucleotides and a separate 1 bp deletion 15 nucleotides downstream in exon 6 . . . . This complex indel results in an insertion of 1 bp in affected d… Evidence (references) - 1992. Footpad hyperkeratosis in a family of Dogues de Bordeaux. Veterinary Dermatology — DOI:10.1111/j.1365-3164.1992.tb00148.x — OMIA Phene_Article / Article - 2015. A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK). Journal of Investigative Dermatology — PubMed:PMID25521457 | DOI:10.1038/jid.2014.526 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:148067 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [259]

Domestic Shorthair — Many alias names exist for the phenotype. They include congenital cornification disorder; CHILD nevi; CHILD-like nevi; ILVEN. The human phenotype resulting from NSDHL loss-of-function variants is termed congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). CHILD syndrome is characterized by epidermal nevi and striking unilateral limb defects. Animals (cats, dogs, mice) with NSDHL variants have similar epidermal nevi, but so far were never reported to also have the limb defects seen in human CHILD syndrome. (hereditary; OMIA-verified breed predisposition)

Breed: Domestic Shorthair (Cat) [260]

Clin feat: De Lucia et al. (2019): A 2‐year‐old, female, domestic short hair cat with a history of multiple alopecic, verrucous, hyperpigmented and erythematous skin lesions, following Blaschko's lines on the head, the limbs, the trunk and paw pads. The same authors concluded that the clinical signs of this single cat correspond to the feline counterpart of human inflammatory linear verrucous epidermal nevus (ILVEN), which closely resembles a mild form of CHILD syndrome, a disorder caused by mutations in the same gene. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389725407 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: De Lucia et al. (2019): "a heterozygous missense variant in the NSDHL gene: XM_004000985.5:c.397A>G or XP_004001034.1:p.(Ser133Gly) [omia.variant:1055]. The variant was absent from 93 additional genetically diverse control cats as demonstrated by Sanger sequencing. The variant was predicted to affect the essential serine residue of the catalytic tetrad 109Asn‐133Ser‐160Tyr‐164Lys in the conserv… Evidence (references) - 2019. Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi. Vet Dermatol — PubMed:PMID30474267 | DOI:10.1111/vde.12699 — OMIA Phene_Article / Article - 2012. Feline epidermal nevi resembling human inflammatory linear verrucous epidermal nevus. J Vet Med Sci — PubMed:PMID22672841 | DOI:10.1292/jvms.12-0117 — OMIA Phene_Article / Article - 2019. X-linked cutaneous mosaicism in a dog. Vet Dermatol — PubMed:PMID31012178 | DOI:10.1111/vde.12748 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:308050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300275 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [260]

Donggyeongi, Republic of Korea — bob-tail, bob tail (hereditary; OMIA-verified breed predisposition)

Breed: Donggyeongi, Republic of Korea (Dog) [130]

Dutch Shepherd — Cerebellar degeneration-myositis complex, inflammatory myopathy (hereditary; OMIA-verified breed predisposition)

Breed: Dutch Shepherd (Dog) [261]

Disorder: Cerebellar degeneration-myositis complex, inflammatory myopathy [261]

Clin feat: Shelton et al. (2019) reported in Dutch Shepherd dogs with the p.L349P variant: Five related Dutch Shepherd dogs with progressive muscle weakness and generalized muscle atrophy beginning at 3 to 9 months of age were euthanized by 2 years of age. Clinical signs included muscle tremors, pelvic limb stiffness, weakness progressing to inability to walk, and severe muscle atrophy. Serum CK activity was moderately elevated (ranging from 800–2,500 IU/L (reference values 200 IU/L) in all affected dogs, indicating myofiber damage. As far as could be determined, affected dogs did not have behavioral abnormalities or seizure activity, interacted with littermates and other dogs, and were visual with no ocular abnormalities noted. As myopathic changes predominated, extensive evaluations by a veterinary neurologist for central nervous system disease or by an ophthalmologist for ocular disease were not performed. Christen et al. (2022) reported in 4 Nova Scotia Duck Tolling Retrievers with the p.P446L variant: Age of onset of neurological signs was between 10 weeks and 6 months. Clinical abnormalities were restricted to the neuromuscular system in all four dogs. Neurological examination showed generalized ataxia and hypermetria, which was more pronounced in the pelvic limbs in all four dogs. Intentional head tremor was present in one dog. In two dogs, generalized neuromuscular weakness became apparent after 1 month, characterized by exercise intolerance, episodic collapse, stiff gait, and bunny hopping. Hopping was delayed in four limbs in three dogs, menace responses were absent in one dog, and decreased withdrawal reflexes were found in four limbs of three dogs.. Blood examination showed increases in serum creatine kinase concentrations in all four dogs (between 3 and 25 times greater than the upper reference limit). An EMG showed mild spontaneous activity in peripheral limb muscles. MRI of the brain in the same dog showed bilateral symmetrical lesions in the cerebellum and multifocal lesions in the masticatory muscles. [261]

Pathology: Shelton et al. (2019): Histopathology of muscle biopsies confirmed an inflammatory myopathy and immune-mediated, infectious and dystrophic disorders were considered. Christen et al. (2022): Muscle and nerve biopsies showed a fiber-invasive lymphohistiocytic myositis without evidence of intracellular infectious agents on histology and tissue PCR. The only other abnormality seen on postmortem examination was severe cerebellar nuclear degeneration. Based on the available clinical and diagnostic findings, we tentatively termed the phenotype of the four affected dogs cerebellar degeneration—myositis complex (CDMC). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246702 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2019. A mutation in the mitochondrial aspartate/glutamate carrier leads to a more oxidizing intramitochondrial environment and an inflammatory myopathy in Dutch shepherd dogs. J Neuromuscul Dis — PubMed:PMID31594244 | DOI:10.3233/JND-190421 — OMIA Phene_Article / Article - 2022. SLC25A12 missense variant in Nova Scotia Duck Tolling Retrievers affected by cerebellar degeneration-myositis complex (CDMC). Genes (Basel) — PubMed:PMID35886006 | DOI:10.3390/genes13071223 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:612949 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603667 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [261]

Dutch Tulip Hound — Dyskinesia, paroxysmal, SOD1-related (hereditary; OMIA-verified breed predisposition)

Breed: Dutch Tulip Hound (Dog) [262]

Summary: A different mutation in the SOD1 gene causes adult onset disease: OMIA 000263-9615: Degenerative myelopathy in Canis lupus familiaris [262]

Clin feat: Mandigers et al. (2021): Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated within weeks and elective euthanasia was performed.. In all pups, routine hematology and clinical chemistry and urinalysis did not reveal any significant abnormalities. In two pups the complete vertebral column was radiographically examined, in four pups an EMG (electromyogram) performed and these did not reveal any abnormalities. On four pups a so-called tensilon test was performed that ruled out myasthenia gravis. In two pups the acetylcholinesterase receptor titer for myasthenia gravis was measured and was found not to be abnormal. In seven pups titers for toxoplasmosis and neospora revealed no increase. In three pups an additional organic acid analysis was performed, which did not reveal any abnormality. [262]

Pathology: Mandigers et al. (2021): Routine post-mortem examinations were possible in 8 of these 12 pups. These revealed no morphological abnormalities macroscopically. Histologically, the most consistent finding was mild, random Wallerian-like degeneration in the brain stem and spinal cord with mild denervation atrophy of the skeletal muscle. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403559 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Mandigers et al. (2021): "The DNA sequence analysis of SOD1 showed that the patients were homozygous for a frameshift mutation in the fourth codon. ... A G-nucleotide of the fourth codon of the gene is replaced by a CAC-trinucleotide. The shifted coding sequence runs into a stop codon at the tenth codon. The annotation of the indel mutation is NM001003035.1:c.12delinsCAC. The protein annotation is… Evidence (references) - 2021. A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy. Hum Genet — PubMed:PMID33677640 | DOI:10.1007/s00439-021-02271-6 — OMIA Phene_Article / Article - 2021. International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med — PubMed:PMID33769611 | DOI:10.1111/jvim.16108 — OMIA Phene_Article / Article - 2021. Nearly 30 years of animal models to study amyotrophic lateral sclerosis: A historical overview and future perspectives. Int J Mol Sci — PubMed:PMID34830115 | DOI:10.3390/ijms222212236 — OMIA Phene_Article / Article - 2022. Dystonia in veterinary neurology. J Vet Intern Med — PubMed:PMID36086931 | DOI:10.1111/jvim.16532 — OMIA Phene_Article / Article - 2024. Canine paroxysmal dyskinesia-a review. Front Vet Sci — PubMed:PMID39119350 | DOI:10.3389/fvets.2024.1441332 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:147450 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618598 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:105400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [262]

English Bulldog — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)

Breed: English Bulldog (Dog) [76]

English Bulldog — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)

Summary: Cystinuria, type 1 - A is an inherited defect that causes failure of reabsorption of cystine in the proximal renal tubule, leading to cystine precipitation in the urine. Formation of crystals and calculi lead to urolithiasis and urinary tract obstruction. The disorder is inherited as an autosomal recessive trait and it is caused by a mutation in SLC3A1. Edited by Dr. Paula Henthorn (modified by IT 23/5/2022 and 29/3/2023) [263]

Clin feat: Presenting signs include recurrent cystitis, hematuria, and stranguria. Calculi may become lodged in the urinary bladder, urethra, or kidney, causing partial or complete urinary blockage, which can result in renal failure (Brons et al., 2013). A relatively earlier age of onset has been identified in Newfoundlands compared to other breeds that develop cystinuria. Diagnosis is achieved by identifying characteristically hexagonal cystine crystals in urine sediment, or cystine calculi in stone analysis. Metabolic screening tests on urine (cyanide nitroprusside test, amino acid chromatography or amino acid quantification) can detect cystinuria before or after clinical onset. Since cystine easily precipitates in acidic urine to form uroliths, treatment includes alkalinization of the urine, high fluid intake, and drugs that increase cystine solubility (Harnevik et al., 2006). As summarised by Brons et al. (2013), Cystinuria type I - A is characterised by: occurs in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≤500 in heterozygotes. [263]

Pathology: Cystinuria is caused by a defect in amino acid transport in epithelial cells of the proximal tubule of the nephron and gastrointestinal epithelium. The relevant amino acids (cystine, ornithine, lysine, and arginine) are transported by a heteromeric amino acid transporter encoded by the genes SLC3A1 and SLC7A9. Clinical signs are caused by failure of reabsorption of these amino acids, leading to precipitation in the urine. In the case of cystine, it readily reaches saturation concentration in urine, which can be exacerbated by a low urinary pH. Formation of crystals and calculi lead to urolithiasis, recurrent cystitis and urinary tract obstruction. Although the transport defect also occurs in the intestine, there is no associated nutritional deficiency. [263]

Prevalence: Cystinuria is most commonly identified in male dogs, and rarely seen in female dogs. In at least one breed, this is due to the differences in the anatomy of the urethra in males and females. Cystinuria has been most extensively studied in Newfoundlands (Henthorn et al., 2000), but various forms of cystinuria have been recognized in over 60 breeds (Osborne et al., 1999). [263]

Control: Affected Newfoundlands are homozygous for the c.586CT mutation, but homozygous females may be undetected clinically. Heterozygous Newfoundlands are unaffected carriers. All progeny of affected male and female Newfoundlands are carriers. It is recommended to avoid breeding that may result in affected dogs. Should carriers be bred to noncarriers, all offspring should be tested. Fitzwilliams et al. (2023) identified allele frequencies of 0.40 and 0.40 in English bulldogs from Denmark for the c.574AG and c.2092AG variants, respectively. The authors state: “Due to high allele frequencies, limited genetic diversity, continued uncertainty about the genetic background of cystinuria, and more severe health problems in the [English bulldog] breed, selection based on genetic testing for the mutations in SLC3A1 cannot be recommended in the Danish population of English bulldogs. However, results of the genetic test may be used as a guide to recommend prophylactic treatment.” Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403700 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1936. Canine cystinuria. III. Journal of Biological Chemistry — OMIA Phene_Article / Article - 1940. Canine cystinuria V. Family history of two cystinuria dogs and cystine determinates in dog urine. Journal of Biological Chemistry — OMIA Phene_Article / Article - 1993. Canine cystinuria - something old, something new. British Veterinary Journal — PubMed:PMID8334504 | DOI:10.1016/S0007-1935(05)80167-8 — OMIA Phene_Article / Article - 1993. Urinary excretion of amino acids in normal and cystinuric dogs. British Veterinary Journal — PubMed:PMID8334507 | DOI:10.1016/S0007-1935(05)80171-X — OMIA Phene_Article / Article - 1993. Canine cystinuria - An extended study on the effects of 2- mercaptopropionylglycine on cystine urolithiasis and urinary cystine excretion. British Veterinary Journal — PubMed:PMID8334506 | DOI:10.1016/S0007-1935(05)80170-8 — OMIA Phene_Article / Article - 1995. Inheritance of cystinuria and renal defect in Newfoundlands. J Am Vet Med Assoc — PubMed:PMID7493896 — OMIA Phene_Article / Article - 1999. Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract — PubMed:PMID10028158 | DOI:10.1016/s0195-5616(99)50011-9 — OMIA Phene_Article / Article - 2000. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Human Genetics — PubMed:PMID11129328 | DOI:doi: 10.1007/s004390000392 — OMIA Phene_Article / Article - 2001. Cystinuria in the dog: Clinical studies during 14 years of medical treatment. J Vet Intern Med — PubMed:PMID11467594 — OMIA Phene_Article / Article - 2009. Canine and feline urolithiasis: examination of over 50 000 urolith submissions to the Canadian veterinary urolith centre from 1998 to 2008. Can Vet J — PubMed:PMID20190975 — OMIA Phene_Article / Article - 2006. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria. Mamm Genome — PubMed:PMID16845473 | DOI:10.1007/s00335-005-0146-4 — OMIA Phene_Article / Article - 2006. Efficient screening of the cystinuria-related C663T Slc3a1 nonsense mutation in Newfoundland dogs by denaturing high-performance liquid chromatography. J Vet Diagn Invest — PubMed:PMID16566266 | DOI:10.1177/104063870601800116 — OMIA Phene_Article / Article - (7 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:220100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104614 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [263]

English Cocker Spaniel — Autosomal recessive hereditary nephropathy; Alport syndrome; autosomal recessive nephritis (hereditary; OMIA-verified breed predisposition)

Breed: English Cocker Spaniel (Dog) [264]

Disorder: Autosomal recessive hereditary nephropathy; Alport syndrome; autosomal recessive nephritis [264]

Summary: For other types of hereditary nephritis/nephropathy see also: 'OMIA:001112-9615: Nephritis, X-linked'; 'OMIA:001114-9615 Nephritis, autosomal dominant'; OMIA000708-9615: Nephritis' and 'OMIA:000413-9615 Glomerulonephritis'. [264]

Prevalence: Prevalence: Andrade et al. (2020) reported the frequency of the c.115T variant as 0.9% in English Cocker Spaniels in Brazil. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403841 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1998. Early diagnosis of familial nephropathy in English Cocker Spaniels. J Am Anim Hosp Assoc — PubMed:PMID9590445 | DOI:10.5326/15473317-34-3-189 — OMIA Phene_Article / Article - 1998. A model of autosomal recessive Alport-syndrome in English Cocker Spaniel dogs. Kidney International — PubMed:PMID9734596 | DOI:10.1046/j.1523-1755.1998.00062.x — OMIA Phene_Article / Article - 2007. Genetic cause of autosomal recessive hereditary nephropathy in the English Cocker Spaniel. J Vet Intern Med — PubMed:PMID17552442 | DOI:10.1892/0891-6640(2007)21[394:gcoarh]2.0.co;2 — OMIA Phene_Article / Article - 2013. Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID23464675 | DOI:10.1111/vec.12031 — OMIA Phene_Article / Article - 2012. Characterization of the genetic basis for autosomal recessive hereditary nephropathy in the English Springer Spaniel. J Vet Intern Med — PubMed:PMID22369189 | DOI:10.1111/j.1939-1676.2012.00888.x — OMIA Phene_Article / Article - 2020. Allele frequency of nonsense mutation responsible for hereditary nephropathy in English cocker spaniel dogs. Vet Anim Sci — PubMed:PMID32734115 | DOI:10.1016/j.vas.2020.100114 — OMIA Phene_Article / Article - 2002. Animal models of Alport syndrome. Nephrol Dial Transplant — PubMed:PMID12147777 | DOI:10.1093/ndt/17.8.1359 — OMIA Phene_Article / Article - 2005. Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization. DNA Seq — PubMed:PMID16147883 | DOI:10.1080/10425170500136822 — OMIA Phene_Article / Article - 2025. Genotype-based molecular mechanisms in Alport syndrome. J Am Soc Nephrol — PubMed:PMID39899372 | DOI:10.1681/ASN.0000000647 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:120131 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:203780 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:141200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [264]

English Cocker Spaniel — Coat colour, ticked (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: Based on an analysis of coat-colour inheritance in more than 2,000 dogs in his Bar Harbor colony and on data collected on around 20,000 dogs from thousands of breeders, Little (1953) proposed a ticked locus with two alleles, the dominant T (ticked) allele and the recessive t allele for non-ticked. Little (1957) discussed evidence for this locus. [265]

Summary: Brancalion et al. (2021): “ticked” and “roan”... both describe the presence of flecks of color that vary in distribution and intensity within otherwise “clear” white markings. The appearance of the pigment in the white patterning caused by ticking and roaning intensifies in the weeks after birth.... Colloquially, ticked is regarded as the appearance of pigmented spots in white areas of the body. Pigmented spots from ticking range in size from only a few hairs to coin-sized and are most dense on the muzzle and legs.... In contrast, pigmentation in the white patterning associated with roan is a mixture of pigmented and white hairs throughout the areas of the coat that would otherwise be white (Little 1953), with the phenotype dispersed relatively evenly across the body. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253552 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1957. The Inheritance of Coat Color in Dogs. Comstock Publishing Associates, Cornell University Press, Ithaca, NY — OMIA Phene_Article / Article - 1953. An analysis of coat-color inheritance in the dog (abstract only). Science — OMIA Phene_Article / Article - 2021. Roan, ticked and clear coat patterns in the canine are associated with three haplotypes near usherin on CFA38. Anim Genet — PubMed:PMID33539602 | DOI:10.1111/age.13040 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — OMIA Phene_Article / Article [265]

English Cocker Spaniel — Pseudomyotonia, paradoxical, SLC7A10-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Stee et al. (2020) report onset of episodes of myotonic-like generalised muscle stiffness post strenuous exercise (exercise-induced, climbing stairs, jumping) in affected dogs typically before they are 2 years of age. Episodes generally resolve in less than 45 seconds, but van Poucke et al. (2023) report that more severe episodes can be associated with apnoea and cyanosis. Stee et al. (2020) state that extreme outside temperatures seemed to considerably worsen episode frequency and severity in most dogs. Complete blood count, serum biochemistry including electrolytes, urinalysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, electromyography, motor nerve conduction velocity, ECG, and echocardiography were unremarkable. Muscle biopsy samples showed moderate but nonspecific muscle atrophy. [266]

Prevalence: Van Poucke et al. (2023): The [c.126CA(p.(Cys42Ter)) SLC7A10] variant has an estimated prevalence of 2.5% in both breeds in the British study samples, but was not identified in the Belgian study samples. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388250809 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2020. Paradoxical pseudomyotonia in English Springer and Cocker Spaniels. J Vet Intern Med — PubMed:PMID31729100 | DOI:10.1111/jvim.15660 — OMIA Phene_Article / Article - 2023. The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels. Anim Genet — PubMed:PMID36869603 | DOI:10.1111/age.13312 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:607959 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [266]

English Cocker Spaniel — Retinal dysplasia, NDP-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Joyce et al. (2021): In the original litter examined (seven puppies), two males were found to have behavioural signs suggestive of severe visual deficits (determined by observing their movements in unfamiliar surroundings), absent pupillary light reflexes, wandering nystagmus, darkened irises, and extensive posterior segment haemorrhage. Ocular ultrasonography revealed total retinal detachment and increased echogenicity within posterior segment in all eyes. The globe diameters (anterior to posterior) were comparable with their normal litter mates at 16mm in all dogs except one affected dog, whose globes were 15mm OU.. One male was found to be bilaterally cryptorchid on clinical examination.. In the second litter examined (four puppies), one male displayed behavioural signs suggestive of severe visual deficits (determined by observing his movements in unfamiliar surroundings), and was found to have absent dazzle and pupillary light reflexes, a wandering nystagmus, corneal endothelial opacities ventrally in the right eye, darkened irises, hyphema of the right eye and extensive posterior segment haemorrhage in both eyes, with the retina in the left eye appearing detached and as a fibrovascular retrolental mass. Ocular ultrasonography revealed total retinal detachment and increased echogenicity within the posterior segment in both eyes. The left globe appeared microphthalmic with an anterior-posterior diameter of 16.42mm versus 21.88mm in the right eye. The affected male was subsequently re-examined, the left eye appeared relatively unchanged whereas the corneal pathology had advanced to diffuse corneal degeneration with neovascularisation and dense crystalline stromal deposits in the right eye. Microphakia was evident along with incipient nuclear cataract being present.. On clinical examination the dog was found to be cryptorchid at 10 months old. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388306737 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: One affected dog was whole genome sequenced, followed by analysis using a candidate gene approach (COL9A2, COL9A3, NHEJ1, RS1 and NDP genes) and a whole genome approach (WGS was compared with 814 unaffected canids to identify candidate variants). "Candidate variants were tested for appropriate segregation in the ECS family and association with disease was assessed using samples from a total of 180… Evidence (references) - 2021. Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog. PLoS One — PubMed:PMID33945575 | DOI:10.1371/journal.pone.0251071 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:310600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300658 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:305390 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [267]

English Cocker Spaniel — Retinopathy with Vitamin E deficiency; central progressive retinal atrophy; vitamin E deficiency retinopathy; retinal pigment epithelial dystrophy (hereditary; OMIA-verified breed predisposition)

Disorder: Retinopathy with Vitamin E deficiency; central progressive retinal atrophy; vitamin E deficiency retinopathy; retinal pigment epithelial dystrophy [268]

Clin feat: Oliver et al. (2024): Ophthalmic abnormalities observed in [Retinopathy with Vitamin E Deficiency]-affected [English Cocker Spaniel] include lipofuscin granule deposition within the tapetal fundus and subsequent retinal degeneration resulting in visual deficits. Affected dogs may also exhibit neurological signs that include ataxia and hindlimb proprioceptive deficit. In all cases, circulating plasma concentrations of alpha-tocopherol are low. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298980 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Oliver et al. (2025): "Whole genome sequencing (WGS) of two [English Cocker Spaniel] cases identified a 102bp deletion in exon 1 of the Alpha Tocopherol Transfer Protein gene (TTPA), truncating the protein by 34 amino acids. The c.23_124del variant segregated with RVED in a total of 30 cases and 43 controls." Evidence (references) - 2002. Vitamin E deficiency in dogs with retinal pigment epithelial dystrophy. Veterinary Record — PubMed:PMID12498409 — OMIA Phene_Article / Article - 2025. A TTPA deletion is associated with Retinopathy with Vitamin E Deficiency (RVED) in the English Cocker Spaniel Dog. G3 (Bethesda) — PubMed:PMID39874248 | DOI:10.1093/g3journal/jkaf016 — OMIA Phene_Article / Article - 1976. Pigment epithelial dystrophy in the dog. Experimental Eye Research — DOI:10.1016/0014-4835(76)90207-4 — OMIA Phene_Article / Article - 2012. Oral vitamin E absorption in English Cocker Spaniels with familial vitamin E deficiency and retinal pigment epithelial dystrophy. Vet Ophthalmol — PubMed:PMID22831287 | DOI:10.1111/j.1463-5224.2012.01049.x — OMIA Phene_Article / Article - 2003. Clinical and pathological observations in English cocker spaniels with primary metabolic vitamin E deficiency and retinal pigment epithelial dystrophy. Vet Rec — PubMed:PMID14509574 | DOI:10.1136/vr.153.10.287 — OMIA Phene_Article / Article - 1954. Degenerations of the dog retina. VI. Central progressive atrophy with pigment epithelial dystrophy. Br J Ophthalmol — PubMed:PMID13208961 | DOI:10.1136/bjo.38.11.653 — OMIA Phene_Article / Article - 1981. Vitamin E deficiency retinopathy in dogs. Am J Vet Res — PubMed:PMID7224322 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600415 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:277460 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [268]

English Cocker Spaniel — Shaking pup (hereditary; OMIA-verified breed predisposition)

Disorder: Shaking pup [269]

Clin feat: Affected Springer Spaniel dogs may be smaller than littermates, and often present with difficulty standing, ataxia, and generalised tremors that typically appear at 10-12 days of age (Griffiths et al., 1981). Death often occurs at 3-4 months of age (Griffiths et al., 1981; Nadon et al., 1990). male pup displayed pronounced generalized tremors, progressive motor dysfunction, and markedly impaired growth. [269]

Pathology: This disease is characterised by hypomyelination and reduced numbers of mature oligodendrocytes in the central nervous system (CNS) only, with abnormalities most pronounced in the cerebrum and optic nerve (Griffiths et al., 1981; Duncan et al., 1983). Histological features include shortened internodes, reduced thickness or absence of myelin sheaths of CNS axons, and expansion of the perinuclear sheaths and rough endoplasmic reticulum (RER) of oligodendrocytes (Griffiths et al., 1981; Duncan et al.,1983). Due to the X-linked mode of inheritance this disease affects males predominately. Due to X-inactivation in females, animals that are heterozygotes can present with tremors that disappear over time, and can present with myelin mosaicism in the CNS (Duncan et al., 1987). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: PLP (Entrez Gene ID 4773602) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in humans, mice and rats), Nadon et al. (1990) reported the causative mutation as "a point mutation at position 219 of the coding sequence [of the PLP gene; now called PLP1] that results in a histidine to proline change in the protein". According to the current variant nomenclatur… Evidence (references) - 1981. Shaking pups: a disorder of central myelination in the Spaniel dog. Part 1. Clinical, genetic and light-microscopical observations. J Neurol Sci — PubMed:PMID7196438 | DOI:10.1016/0022-510x(81)90154-4 — OMIA Phene_Article / Article - 1990. A point mutation in the proteolipid protein gene of the shaking pup interrupts oligodendrocyte development. Development — PubMed:PMID1723945 | DOI:10.1242/dev.110.2.529 — OMIA Phene_Article / Article - 1995. A suspected case of idiopathic generalised tremor (shaker disease) in a shih tzu. Veterinary Record — PubMed:PMID7676584 — OMIA Phene_Article / Article - 1996. Molecular analysis of glial cell development in the canine shaking pup mutant. Developmental Neuroscience — PubMed:PMID8894446 — OMIA Phene_Article / Article - 1998. Myelin mosaicism and brain plasticity in heterozygous females of a canine X-linked trait. Annals of Neurology — PubMed:PMID9818933 | DOI:10.1002/ana.410440511 — OMIA Phene_Article / Article - 2004. A case of shaker dog disease in a miniature dachshund. J Vet Med Sci — PubMed:PMID15472486 — OMIA Phene_Article / Article - 1997. Intracellular transport of the DM-20 bearing shaking pup (shp) mutation and its possible phenotypic consequences. J Neurosci Res — PubMed:PMID9418971 | DOI:10.1002/(SICI)1097-4547(19971201)50:53.0.CO;2-# — OMIA Phene_Article / Article - 1987. Disproportional expression of proteolipid protein and DM-20 in the X-linked, dysmyelinating shaking pup mutant. J Neurochem — PubMed:PMID2445922 | DOI:10.1111/j.1471-4159.1987.tb02454.x — OMIA Phene_Article / Article - 1987. Myelin mosaicism in female heterozygotes of the canine shaking pup and myelin-deficient rat mutants. Brain Res — PubMed:PMID3828784 | DOI:10.1016/0006-8993(87)91062-6 — OMIA Phene_Article / Article - 1986. Myelin proteins in the CNS of 'shaking pups'. Brain Res — PubMed:PMID3708384 — OMIA Phene_Article / Article - 1983. 'Shaking pups': a disorder of central myelination in the spaniel dog. IV. Freeze-fracture electron microscopic studies of axons, oligodendrocytes and astrocytes in the spinal cord white matter. Neuropathol Appl Neurobiol — PubMed:PMID6646344 | DOI:10.1111/j.1365-2990.1983.tb00122.x — OMIA Phene_Article / Article - 1983. 'Shaking pups': a disorder of central myelination in the spaniel dog. III. Quantitative aspects of glia and myelin in the spinal cord and optic nerve. Neuropathol Appl Neurobiol — PubMed:PMID6646343 | DOI:10.1111/j.1365-2990.1983.tb00121.x — OMIA Phene_Article / Article - (3 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:312080 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300401 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [269]

English Cocker Spaniel — X-linked progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)

Disorder: X-linked progressive retinal atrophy [270]

Clin feat: Bionda et al. (2026) report related male English Cocker Spaniel dogs with a progressive vision deficit. Retinal pathology was recorded around 3-4 years of age with a possible earlier onset of visual impairment. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299092 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bionda et al. (2026) identified a 1-bp deletion in exon 36 of the CACNA1F gene (NC_049260.1:g.42,516,353del; XM_038587436.1:c.4,481del, XP_038443364.1:p.Phe1482LeufsTer8; omia.variant:1881) as likely causal variant for a novel form of X-linked progressive retinal atrophy in related English Cocker Spaniel dogs. Evidence (references) - 2026. Deletion in CACNA1F gene causes X-linked progressive retinal atrophy in English Cocker Spaniel dogs. BMC Vet Res — PubMed:PMID41882631 | DOI:10.1186/s12917-026-05421-y — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:300110 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300476 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300071 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [270]

English Foxhound — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: English Foxhound (Dog) [61]

English Mastiff — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: English Mastiff (Dog) [68]

English Mastiff — Osteogenesis imperfecta, generic (hereditary; OMIA-verified breed predisposition)

Summary: See also entries for osteogenesis imperfecta for which likely causal variants have been identified, e.g., [OMIA:002112-9615] Osteogenesis imperfecta, COL1A2-related'; '[OMIA:001483-9615] Osteogenesis imperfecta, SERPINH1-related' and '[OMIA:002126-9615] Osteogenesis imperfecta, type III, COL1A1-related' Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1956. Idiopathic familial osteoporosis in dogs: 'Osteogenesis imperfecta'. Annals of the New York Academy of Sciences — OMIA Phene_Article / Article - 1960. [Contribution to the clinical picture and pathology of Osteogenesis imperfecta in the young dog.] Beitrag zur Klinik und Pathologie der Osteogenesis imperfecta bei Junghunden.. Zentralblatt fur Veterinarmedizin — OMIA Phene_Article / Article - 1991. Case report - Osteogenesis imperfecta in a German Shepherd puppy.. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Clinical signs and diagnosis of osteogenesis imperfecta in three dogs. J Am Vet Med Assoc — PubMed:PMID9227748 — OMIA Phene_Article / Article - 2000. Osteogenesis imperfecta in three dogs from a single litter. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 2021. Osteogenesis imperfecta in two Finnish Lapphund puppies.. Vet Med (Auckl) — PubMed:PMID34168973 | DOI:10.2147/VMRR.S308418 — OMIA Phene_Article / Article - 2019. Osteogenesis and dentinogenesis imperfecta in a four-month-old English mastiff.. Veterinary Record Case Reports — DOI:10.1136/vetreccr-2019-000835 — OMIA Phene_Article / Article - 1956. Idiopathic familial osteoporosis in dogs: 'Osteogenesis imperfecta'. Annals of the New York Academy of Sciences — OMIA Phene_Article / Article - 1960. [Contribution to the clinical picture and pathology of Osteogenesis imperfecta in the young dog.] Beitrag zur Klinik und Pathologie der Osteogenesis imperfecta bei Junghunden. Zentralblatt fur Veterinarmedizin — OMIA Phene_Article / Article - 1991. Case report - Osteogenesis imperfecta in a German Shepherd puppy. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Clinical signs and diagnosis of osteogenesis imperfecta in three dogs. J Am Vet Med Assoc — PubMed:PMID9227748 — OMIA Phene_Article / Article - 2000. Osteogenesis imperfecta in three dogs from a single litter. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 2021. Osteogenesis imperfecta in two Finnish Lapphund puppies. Vet Med (Auckl) — PubMed:PMID34168973 | DOI:10.2147/VMRR.S308418 — OMIA Phene_Article / Article - 2019. Osteogenesis and dentinogenesis imperfecta in a four-month-old English mastiff. Veterinary Record Case Reports — DOI:10.1136/vetreccr-2019-000835 — OMIA Phene_Article / Article - 1956. Idiopathic familial osteoporosis in dogs: 'Osteogenesis imperfecta'. Annals of the New York Academy of Sciences — OMIA Phene_Article / Article - 1960. [Contribution to the clinical picture and pathology of Osteogenesis imperfecta in the young dog.] Beitrag zur Klinik und Pathologie der Osteogenesis imperfecta bei Junghunden. Zentralblatt fur Veterinarmedizin — OMIA Phene_Article / Article - 1991. Case report - Osteogenesis imperfecta in a German Shepherd puppy. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Clinical signs and diagnosis of osteogenesis imperfecta in three dogs. J Am Vet Med Assoc — PubMed:PMID9227748 — OMIA Phene_Article / Article - 2000. Osteogenesis imperfecta in three dogs from a single litter. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 2021. Osteogenesis imperfecta in two Finnish Lapphund puppies. Vet Med (Auckl) — PubMed:PMID34168973 | DOI:10.2147/VMRR.S308418 — OMIA Phene_Article / Article - 2019. Osteogenesis and dentinogenesis imperfecta in a four-month-old English mastiff. Veterinary Record Case Reports — DOI:10.1136/vetreccr-2019-000835 — OMIA Phene_Article / Article - 1956. Idiopathic familial osteoporosis in dogs: 'Osteogenesis imperfecta'. Annals of the New York Academy of Sciences — OMIA Phene_Article / Article - 1960. [Contribution to the clinical picture and pathology of Osteogenesis imperfecta in the young dog.] Beitrag zur Klinik und Pathologie der Osteogenesis imperfecta bei Junghunden. Zentralblatt fur Veterinarmedizin — OMIA Phene_Article / Article - 1991. Case report - Osteogenesis imperfecta in a German Shepherd puppy. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Clinical signs and diagnosis of osteogenesis imperfecta in three dogs. J Am Vet Med Assoc — PubMed:PMID9227748 — OMIA Phene_Article / Article - 2000. Osteogenesis imperfecta in three dogs from a single litter. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 2021. Osteogenesis imperfecta in two Finnish Lapphund puppies. Vet Med (Auckl) — PubMed:PMID34168973 | DOI:10.2147/VMRR.S308418 — OMIA Phene_Article / Article - 2019. Osteogenesis and dentinogenesis imperfecta in a four-month-old English mastiff. Veterinary Record Case Reports — DOI:10.1136/vetreccr-2019-000835 — OMIA Phene_Article / Article - 1956. Idiopathic familial osteoporosis in dogs: 'Osteogenesis imperfecta'. Annals of the New York Academy of Sciences — OMIA Phene_Article / Article - 1960. [Contribution to the clinical picture and pathology of Osteogenesis imperfecta in the young dog.] Beitrag zur Klinik und Pathologie der Osteogenesis imperfecta bei Junghunden. Zentralblatt fur Veterinarmedizin — OMIA Phene_Article / Article - 1991. Case report - Osteogenesis imperfecta in a German Shepherd puppy. Kleintierpraxis — OMIA Phene_Article / Article - 1997. Clinical signs and diagnosis of osteogenesis imperfecta in three dogs. J Am Vet Med Assoc — PubMed:PMID9227748 — OMIA Phene_Article / Article - 2000. Osteogenesis imperfecta in three dogs from a single litter. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 2021. Osteogenesis imperfecta in two Finnish Lapphund puppies. Vet Med (Auckl) — PubMed:PMID34168973 | DOI:10.2147/VMRR.S308418 — OMIA Phene_Article / Article - 2019. Osteogenesis and dentinogenesis imperfecta in a four-month-old English mastiff. Veterinary Record Case Reports — DOI:10.1136/vetreccr-2019-000835 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:166210 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166220 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259420 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259440 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166210 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166220 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259420 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259440 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166210 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166220 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259420 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259440 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166210 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166220 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259420 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259440 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166210 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:166220 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259420 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:259440 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [271]

English Pointer — hereditary sensory neuropathy (hereditary; OMIA-verified breed predisposition)

Breed: English Pointer (Dog) [272]

Disorder: hereditary sensory neuropathy [272]

Clin feat: As summarised by Plassais et al. (2016): Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact [272]

Prevalence: Correard et al. (2017): This mutation [chr4.g.70,875,561C>T] is responsible for insensitivity to pain in four sporting dog breeds and it perfectly segregates with the disease in 250 sporting dogs of known clinical status. Moreover, it was not found in any of the 900 unaffected dogs from 130 different breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253976 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: "Targeted high-throughput sequencing of [the positional candidate segment] in 4 affected and 4 unaffected dogs" enabled Plassais et al. (2016) to identify 478 variants, only one of which "perfectly segregated with the expected recessive inheritance in 300 sporting dogs of known clinical status, while it was never present in 900 unaffected dogs from 130 other breeds. This variant, located 90 kb ups… Evidence (references) - 2011. Acral mutilation syndrome in a miniature pinscher. J Comp Pathol — PubMed:PMID20961556 | DOI:10.1016/j.jcpa.2010.08.014 — OMIA Phene_Article / Article - 2005. Acral mutilation and analgesia in 13 French spaniels. Vet Dermatol — PubMed:PMID15842538 | DOI:10.1111/j.1365-3164.2005.00443.x — OMIA Phene_Article / Article - 1983. Hereditary sensory neuropathy. Nociceptive loss and acral mutilation in pointer dogs: canine hereditary sensory neuropathy. Am J Pathol — PubMed:PMID6574711 — OMIA Phene_Article / Article - 1981. Acral mutilation and nociceptive loss in English pointer dogs. A canine sensory neuropathy. Acta Neuropathol — PubMed:PMID6259871 — OMIA Phene_Article / Article - 2016. A point mutation in a lincRNA upstream of GDNF is associated to a canine insensitivity to pain: A spontaneous model for human sensory neuropathies. PLoS Genetics — PubMed:PMID28033318 | DOI:10.1371/journal.pgen.1006482 — OMIA Phene_Article / Article - 1973. [Comparative problems of acrodystrophic neuropathies in man and dogs]. Schweiz Arch Neurol Neurochir Psychiatr — PubMed:PMID4725277 — OMIA Phene_Article / Article - 1964. Die Zehennekrose bei kurzhaarigen Vorstehhunden. Kleintierpraxis — OMIA Phene_Article / Article - 1984. Reduced substance P-like immunoreactivity in hereditary sensory neuropathy of pointer dogs. Acta Neuropathol — PubMed:PMID6203326 | DOI:10.1007/BF00688468 — OMIA Phene_Article / Article - 2019. Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Hum Genet — PubMed:PMID30955094 | DOI:10.1007/s00439-019-02003-x — OMIA Phene_Article / Article - 2017. A spontaneous dog model for a human sensory neuropathy: identification of a mutation in the upstream region of a neurotrophic factor. Bull Acad Vét Fr — DOI:10.4267/2042/61953 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - (1 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:223900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:201300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608654 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613115 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614213 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600837 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [272]

English Setter — Also described as epidermal acantholysis (hereditary; OMIA-verified breed predisposition)

Breed: English Setter (Dog) [273]

Disorder: Also described as epidermal acantholysis [273]

Clin feat: Sueki et al. (1997) reported skin lesions on the ventral chest of a single 7 month old English Setter and on the head and knee of two of his crossbred offspring: skin lesions were characterized by hairless, hypertrophic plaques. The surface of the lesion was rough, with occasional serous crusting and peripheral scaling. Pruritus was minimal. The lesions enlarged slowly, and no additional lesion developed. Linek et al. (2020) reported a 4-month-old female Irish Terrier. with a well demarcated ulcerative and crusting lesion in the right ear canal.. The lesion was successfully treated. Over the course of three years, the dog additionally developed three dermal nodules of up to 4 cm in diameter that were excised and healed without complications. [273]

Pathology: Sueki et al. (1997): Histopathologically, these lesions [in the English Setter] showed epidermal hyperplasia with individual enlargement of keratinocytes, extensive acantholysis and minimal dyskeratosis. Ultrastructural analysis revealed that attachment plaques of desmosomes were still intact while some tonofilaments were detached from them in early lesions; there were well-developed microvilli at dissociated cell surfaces. Linek et al. (2020): clinical, histological, immunohistological, and ultrastructural findings in a male English Setter and two of its female offspring were initially reported as Hailey-Hailey disease [Shanley et al., 1993; Sueki et al., 1997]. A subsequent study found depletion of the ATP2A2-gated stores in cultured keratinocytes from one of these dogs and suggested that these dogs had Darier disease and not Hailey-Hailey disease as previously reported [Müller et al., 2006]. Pathohistology of the Irish Terrier revealed multiple infundibular cysts extending from the upper dermis to the subcutis. The cysts were lined by squamous epithelium, which presented with abundant acantholysis of suprabasal keratinocytes. Infundibular cysts represent a novel finding not previously reported in Darier patients. (Linek et al., 2020) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: SERCA2A (Entrez Gene ID 388199337) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Linek et al. (2020): "Whole genome sequencing of the affected [Irish Terrier] dog was performed, and the [comparative] functional candidate genes for Darier disease (ATP2A2) and Hailey-Hailey disease (ATP2C1) were investigated. The analysis revealed a heterozygous SINE insertion into the ATP2A2 gene, at the end of intron 14, close to the boundary of exon 15. Analysis of the ATP2A2 mRNA from skin o… Evidence (references) - 1997. Dominantly inherited epidermal acantholysis in dogs, simulating human benign familial chronic pemphigus (Hailey-Hailey disease). Br J Dermatol — PubMed:PMID9068730 — OMIA Phene_Article / Article - 2009. Dermatoses affecting desmosomes in animals: a mechanistic review of acantholytic blistering skin diseases. Vet Dermatol — PubMed:PMID20178467 | DOI:10.1111/j.1365-3164.2009.00821.x — OMIA Phene_Article / Article - 2020. ATP2A2 SINE insertion in an Irish Terrier with Darier disease and associated infundibular cyst formation. Genes (Basel) — PubMed:PMID32354065 | DOI:10.3390/genes11050481 — OMIA Phene_Article / Article - 2006. Consequences of depleted SERCA2-gated calcium stores in the skin. J Invest Dermatol — PubMed:PMID16397524 | DOI:10.1038/sj.jid.5700091 — OMIA Phene_Article / Article - 1993. Canine benign familial chronic pemphigus. Advances in Veterinary Dermatology — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease. Anim Genet — PubMed:PMID36883421 | DOI:10.1111/age.13314 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:124200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:108740 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [273]

English Shepherd — Progressive retinal atrophy 3, PRA3 (Tibetan Terrier); Progressive retinal atrophy 6, PRA6 (English Shepherd) (hereditary; OMIA-verified breed predisposition)

Breed: English Shepherd (Dog) [274]

Disorder: Progressive retinal atrophy 3, PRA3 (Tibetan Terrier); Progressive retinal atrophy 6, PRA6 (English Shepherd) [274]

Prevalence: While the FAM161A insertion reporteed by Downs and Mellersch (2014) has strong claims to being causative (see Molecular section), the authors cautioned that heterogeneity exists: This [FAM161A, omia.variant:925] mutation segregates with the disease in 22 out of 35 cases tested (63%). Of the PRA controls, none are homozygous for the mutation, 15% carry the mutation and 85% are homozygous wildtype. This mutation was also identified in Tibetan Terriers, although our results indicate that PRA is genetically heterogeneous in both Tibetan Spaniels and Tibetan Terriers. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248644 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Encouraged by the fact that a comparative (human) candidate gene (namely FAM161A, mutations in which cause retinosis pigmentosa (RP) 28) shows conserved synteny with the candidate region identified in their GWAS (see Mapping section), Downs and Mellersch (2014) next-gen sequenced the 3.8Mb candidate region in 4 affected, 2 obligate carriers and 2 unaffecteds, identifying the most likely candidate … Evidence (references) - 1978. Lens luxation and progressive retinal atrophy in the Tibetan Terrier. Vet Rec — PubMed:PMID308725 | DOI:10.1136/vr.103.8.160 — OMIA Phene_Article / Article - 1994. Progressive retinal atrophy in the Tibetan Spaniel in Norway and Sweden. Vet Rec — PubMed:PMID8009801 | DOI:10.1136/vr.134.15.377 — OMIA Phene_Article / Article - 2004. Genetic analysis of presumed inherited eye diseases in Tibetan Terriers. Vet J — PubMed:PMID15301758 | DOI:10.1016/S1090-0233(03)00143-6 — OMIA Phene_Article / Article - 2014. An intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers. PLoS One — PubMed:PMID24705771 | DOI:10.1371/journal.pone.0093990 — OMIA Phene_Article / Article - 1988. Progressive retinal atrophy in Tibetan terriers. J Am Vet Med Assoc — PubMed:PMID3356591 — OMIA Phene_Article / Article - 2016. FAM161A and TTC8 are differentially expressed in non-allelelic early onset retinal degeneration. Adv Exp Med Biol — PubMed:PMID26427412 | DOI:10.1007/978-3-319-17121-0_27 — OMIA Phene_Article / Article - 2024. Exonic short interspersed nuclear element insertion in FAM161A is associated with autosomal recessive progressive retinal atrophy in the English Shepherd. Genes (Basel) — PubMed:PMID39062732 | DOI:10.3390/genes15070952 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606068 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613596 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [274]

English Springer Spaniel — Autosomal recessive hereditary nephropathy; Alport syndrome; autosomal recessive nephritis (hereditary; OMIA-verified breed predisposition)

Breed: English Springer Spaniel (Dog) [264]

English Springer Spaniel — Dyserythropoietic anemia and myopathy syndrome (hereditary; OMIA-verified breed predisposition)

Clin feat: Holland et al. (1991) A polysystemic disorder was observed in three related English Springer Spaniel dogs that demonstrated regurgitation from an early age, slowly progressive temporal muscle atrophy with partial trismus, and less pronounced generalized skeletal muscle atrophy. All dogs exhibited moderate dyserythropoietic anemia, polymyopathy with megaesophagus, and varying degrees of cardiomegaly. Østergård Jensen et al. (2022) investigated five affected Swedish ESSPs, as well as tissue samples from two puppies who died within the first day: all dogs affected with DAMS appeared slightly stunted, less well muscled, and less active compared to their littermates during the first few weeks of life.. [The dogs presented later with] exercise intolerance, weakness, and regurgitation from puppyhood. In addition, difficulties opening and closing the mouth, dysphagia, and difficulty in lapping water., as well as aspiration pneumonia., seizures., and chronic diarrhea., were noted in the affected juvenile dogs. The affected dogs were 0.7 to 4 years of age at the initial examination and were followed over a period from two months to three years.. Progressive weakness, muscle atrophy—particularly of the temporal and pelvic muscles—trismus, dysphagia, and regurgitation due to megaesophagus were observed at all ages. Affected dogs had a non-regenerative, microcytic hypochromic anemia with metarubricytosis, target cells, and acanthocytes. Marked erythroid hyperplasia and dyserythropoiesis with non-orderly maturation of erythrocytes and inappropriate microcytic metarubricytosis were present.. The five affected dogs. were euthanized at approximately 1, 1.5, 5, 7, and 7.5 years of age, respectively, due to failure to thrive, progressive clinical signs, and poor quality of life.. [The] two puppies (in a litter of nine) that died shortly after birth were homozygous for the EHBP1L1 variant.. These neonatal losses indicate that EHBP1L1 deficiency could also be a cause of neonatal death in dogs, but the specific cause of death was not determined. Thomas-Hollands et al. (2021): Two Labrador retriever littermates were identified based on incidentally noted marked microcytosis and inappropriate metarubricytosis. Muscle atrophy was noted and associated with distinctive pathological findings in biopsy samples from 1 dog studied.. the dogs. did not have apparent cardiac disease. [275]

Pathology: Østergård Jensen et al. (2022): Muscle biopsies [of affected ESSP] showed centralized nuclei, central pallor, lipocyte infiltrates, and fibrosis, which was consistent with centronuclear myopathy. Thomas-Hollands et al. (2021): Muscle biopsy samples [of an affected Labrador] were collected from the contralateral right biceps, triceps, and frontalis muscles.. Prominent findings are variability in myofiber size, central nuclei., and central accumulations of reactivity that are basophilic with the HE stain and red with the modified Gomori trichrome stain, and dark brown or dark blue with the cytochrome C oxidase and SDH reactions, respectively.. These findings supported a noninflammatory, congenital myopathy with pathological changes consistent with the centronuclear/myotubular myopathy group of neuromuscular diseases. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388250269 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1991. Dyserythropoiesis, polymyopathy, and cardiac disease in three related English springer spaniels. J Vet Intern Med — PubMed:PMID1920252 | DOI:10.1111/j.1939-1676.1991.tb00942.x — OMIA Phene_Article / Article - 2022. EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses. Genes (Basel) — PubMed:PMID36140701 | DOI:10.3390/genes13091533 — OMIA Phene_Article / Article - 2021. Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates. J Vet Intern Med — PubMed:PMID34227150 | DOI:10.1111/jvim.16214 — OMIA Phene_Article / Article - 2022. An EHPB1L1 nonsense mutation associated with congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates. Genes (Basel) — PubMed:PMID36011338 | DOI:10.3390/genes13081427 — OMIA Phene_Article / Article - 2024. European EHBP1L1 genotyping survey of dyserythropoietic anemia and myopathy Syndrome in English Springer Spaniels. Vet Sci — PubMed:PMID39728936 | DOI:10.3390/vetsci11120596 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:619583 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [275]

English Springer Spaniel — Factor XI deficiency (hereditary; OMIA-verified breed predisposition)

Clin feat: Congenital Factor XI deficiency is characterised by abnormal haemostasis and excessive bleeding, usually following trauma or surgery. Clinical signs of abnormal haemostasis and excessive bleeding include bruising, epistaxis, and menorrhagia (Fogh and Fogh, 1988). Affected dogs have significantly decreased Factor XI activity levels (less than 10%), heterozygous/carrier dogs have decreased Factor XI activity levels, (25-50%) but appear to be asymptomatic (Fogh and Fogh, 1988). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3476214 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: A molecular basis for this disorder was first reported by Tcherneva et al. (2007): "the 7th coding exon differs between normal and affected animals. It is normally 110 bp long, but in affected KBTs it contains a short interspersed nucleotide element (SINE) insertion. This exonic SINE is 90 bp long, consisting mostly of adenines coding for lysine which is presumed to affect the 3rd apple domain of … Evidence (references) - 1994. Factor XI deficiency in Kerry Blue Terriers. Journal of the American Veterinary Medical Association — PubMed:PMID7730123 — OMIA Phene_Article / Article - 2006. Coagulation factor XI deficiency in Kerry blue terrier dogs is caused by an exonic sine insertion. Journal of Veterinary Internal Medicine — OMIA Phene_Article / Article - 1971. Canine factor XI (plasma thromboplastin antecedent) deficiency. J Lab Clin Med — PubMed:PMID5166932 — OMIA Phene_Article / Article - 1988. Inherited coagulation disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID3282382 | DOI:10.1016/s0195-5616(88)50018-9 — OMIA Phene_Article / Article - 1974. Hereditary and acquired hemorrhagic disorders in animals. Prog Hemost Thromb — PubMed:PMID4604529 — OMIA Phene_Article / Article - 2007. Molecular base of coagulation factor XI deficiency in Kerry Blue terrier. Bulgarian Journal of Veterinary Medicine — OMIA Phene_Article / Article - 2009. Factor XI deficiency in animal models. J Thromb Haemost — PubMed:PMID19630774 | DOI:10.1111/j.1538-7836.2009.03393.x — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:264900 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612416 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [276]

English Springer Spaniel — Fucosidosis, alpha (hereditary; OMIA-verified breed predisposition)

Summary: Alpha fucosidosis is a lysosomal disease characterized by severe, progressive neurological degeneration. Affected dogs usually die or are euthanized by 3-4 years of age. There is a test available. Therapeutic methods are under investigation. [277]

Clin feat: Affected dogs appear clinically normal until around 4-6 months of age, when behavioral signs are first noticeable. Signs include progressive ataxia, proprioceptive dysfunction, change in temperament, dysphagia, dysphonia, loss of learned behavior, muscle wasting, and apparent blindness. Affected dogs usually die or are euthanized by 3-4 years of age (Skelly et al., 1996, Fletcher et al., 2011). Bone marrow transplantation therapy slowed progression and decreased severity of clinical signs, but only if performed at an early age (Taylor et al., 1992). [277]

Pathology: Affected animals are deficient in both forms of alpha-L-fucosidase, and are unable to completely degrade complex oligosaccharides. Therefore, they accumulate fucose-containing oligosaccharides and glycopeptides in lysosomes, which appear as vacuoles in histologic section. Heterozygous animals have about 50% of normal fucosidase activity (Abraham et al., 1984, Skelly et al., 1996). Lysosomal storage disturbs normal extracellular traffic and activates microglia, which causes the inflammatory response. Vacuolation and inflammation of neurons in the frontal cortex occurs by 2 months of age, before clinical signs become apparent. Chronic neuroinflammation can cause secretion of tumor necrosis factor alpha, which is a pro-apoptotic cytokine. This causes neuronal loss (Fletcher et al., 2011). [277]

Prevalence: This disorder has been reported in ESSP in UK, Australia and USA. [277]

English Springer Spaniel — Hyperfibrinolysis (hereditary; OMIA-verified breed predisposition)

Disorder: Hyperfibrinolysis [278]

Clin feat: Kilpatrick et al. (2025) A 7-month-old female spayed English Springer Spaniel (ESS) was evaluated for spontaneous hemoperitoneum. Hyperfibrinolysis was identified on thromboelastography. . Absence of PAI-1 in the proband's platelets was documented using LC–MS/MS. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299022 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Kilpatrick et al. (2025) : "Whole genome sequencing of the [English Springer Spaniel, ESS] proband identified a unique homozygous insertion at chr6:8640592 [omia.variant:1812] in exon 1 of SERPINE1, which is predicted to cause a premature stop codon. The unaffected littermate was heterozygous for the mutation. Two unrelated ESS and 1 [Welsh Springer Spaniel] WSS with post-operative hemorrhage… Evidence (references) - 2025. Identification of a novel mutation in the SERPINE1 gene causing clinical hyperfibrinolysis in English Springer Spaniel dogs. J Vet Intern Med — PubMed:PMID40470612 | DOI:10.1111/jvim.70150 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613329 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:173360 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [278]

English Springer Spaniel — Jack Russel terrier type congenital myasthenic syndrome; post-synaptic congenital myasthenic syndrome; myasthenia gravis-like disease (hereditary; OMIA-verified breed predisposition)

Disorder: Jack Russel terrier type congenital myasthenic syndrome; post-synaptic congenital myasthenic syndrome; myasthenia gravis-like disease [279]

Clin feat: Rinz et al. (2015) reported that affected Jack Russell Terrier (JRT) pups appeared normal until 6 weeks of age. Affected JRT pups showed generalized muscle weakness at 7 weeks of age, walking only briefly for 10–15 short-strided steps before sitting or lying down. Treatment with anticholinesterase drug resulted in temporary improvement of muscle weakness. Development of drug resistance necessitated euthanasia. Herder et al. (2017): In a litter of Heideterriers, four out of 11 puppies showed a lack of reflexes and coordination of the front limbs 6 days after birth. Consciousness and general condition of these animals was reported to be normal, and none showed fever. The four affected puppies displayed weakness progressing over the course of the day and peaking at night time. The most severely affected animal showed falling to the side and recumbency, while still being alert and trying to play in this position. [279]

Pathology: Rinz et al. (2015): No indication of a primary nervous system or muscle disorder was found on post-mortem examination [of affected Jack Russell Terriers]. Occasional groups of atrophic myofibers of both fiber types were noted in cryosections stained with the myofibrillar ATPase reaction. Several end-plates were identified by the esterase reaction product staining, but no AChRs were detectable in serial cryosections by labeling with fluorescent α-bungarotoxin. Herder et al. (2017) reported lack of significant pathological findings in most muscles except for mild lipomatosis musculorum in the M. triceps in a Heideterrier. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388247226 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing two positional functional candidate genes, Rinz et al. (2015) concluded that a likely causal mutation in Jack Russell Terriers is "a single base insertion [omia.variant:614, published as c.633_634insC] in exon 7 of CHRNE that predicts a frameshift mutation and a premature stop codon [p.Gly212Argfs*274]". Herder et al. (2017) investigated a litter of Heideterriers, in which 4… Evidence (references) - 1978. Congenital myasthenia in the Jack Russel Terrier (correspondence). Vet Rec — PubMed:PMID741601 | DOI:10.1136/vr.103.19.433 — OMIA Phene_Article / Article - 2015. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord — PubMed:PMID26429099 | DOI:10.1016/j.nmd.2015.09.005 — OMIA Phene_Article / Article - 1974. Myasthenia in the dog. Vet Rec — PubMed:PMID4446286 | DOI:10.1136/vr.95.20.452 — OMIA Phene_Article / Article - 1984. Congenital canine myasthenia gravis: I. Deficient junctional acetylcholine receptors. Muscle Nerve — PubMed:PMID6543919 | DOI:10.1002/mus.880070904 — OMIA Phene_Article / Article - 1984. Congenital canine myasthenia gravis: II. Acetylcholine receptor metabolism. Muscle Nerve — PubMed:PMID6543920 | DOI:10.1002/mus.880070905 — OMIA Phene_Article / Article - 1984. Recessive mode of inheritance in myasthenia gravis in the Jack Russell terrier. Vet Rec — PubMed:PMID6719791 | DOI:10.1136/vr.114.14.350 — OMIA Phene_Article / Article - 2017. Frame-shift variant in the CHRNE gene in a juvenile dog with suspected myasthenia gravis-like disease. Anim Genet — PubMed:PMID28508416 | DOI:10.1111/age.12558 — OMIA Phene_Article / Article - 2020. Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats. J Vet Intern Med — PubMed:PMID32668077 | DOI:10.1111/jvim.15855 — OMIA Phene_Article / Article - 2024. Independent CHRNE mutations at serine 503 in English Springer Spaniels and a Smooth Fox Terrier having congenital myasthenic syndrome. Anim Genet — PubMed:PMID38853290 | DOI:10.1111/age.13456 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:605809 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616324 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608931 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:100725 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [279]

English Springer Spaniel — Long QT syndrome, KCNQ1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Ware et al. (2015): A 5-year-old, healthy English Springer Spaniel died suddenly 4 months after delivering a litter of 7 puppies. Within 4 months of the dam's death, 3 offspring also died suddenly.. Three of 4 littermates examined. had prolonged QT intervals with unique T-wave morphology. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388250219 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Ware et al. (2015): "DNA sequencing of the KCNQ1 [functional candidate] gene identified a heterozygous single base pair mutation, unique to these 3 [affected English Springer Spaniel] dogs, which changes a conserved amino acid from threonine to lysine and is predicted to change protein structure." Evidence (references) - 2023. The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract — PubMed:PMID37423841 | DOI:10.1016/j.cvsm.2023.05.016 — OMIA Phene_Article / Article - 2015. Sudden death associated with QT interval prolongation and KCNQ1 gene mutation in a family of English Springer Spaniels. J Vet Intern Med — PubMed:PMID25779927 | DOI:10.1111/jvim.12550 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:192500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607542 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [280]

Entlebucher Mountain Dog — Ectopic ureter (hereditary; OMIA-verified breed predisposition)

Breed: Entlebucher Mountain Dog (Dog) [281]

Clin feat: Ectopic ureter (EU) is a congenital malformation where one or both ureters enter the bladder in an abnormal anatomical position, outside of the trigone area. The ureters enter on the bladder neck, urethra, uterus or vagina (Reichler et al., 2012). Ectopic ureters can be classified in intramural and extramural, depending on if they bypass the bladder or not. The extramural EU bypasses the bladder completely and opens into the possible abnormal anatomical structures, while the intramural enters the bladder wall in the correct anatomic position (trigone area) but extends within the bladder to then open into an abnormal position. Urinary incontinence is the most common clinical sign of EU and affected dogs often present at a very young age (Koie et al., 2000), with males also commonly showing signs of urinary incontinence at a more advanced age (Holt and Moore, 1995). Diagnosis of EU is best achieved by different imaging methods such as intravenous urography and ultrasonography (Lamb and Gregory, 1998; Koie et al., 2000; Taylor et al., 2022). Treatment involves surgical reposition of ectopic ureter into the bladder and medication for incontinence when needed (Koie et al., 2000). [281]

Pathology: Urinary tract infections related to urinary incontinence are common in presentation of dogs with EU (Fritsche et al., 2013). These result in inflammation throughout the urinary tract (e.g. urethritis, cystitis, ureteritis, pyelonephritis). In a large portion of cases, EU has also been associated with other urogenital conformational or functional abnormalities such as hydronephrosis, dilated ureters, vestibulo-vaginal malformations, hypoplastic bladder or kidney, congenital urethral sphincter mechanism incompetence (USMI), ureterocele, renal dysgenesis, pelvic bladder and others (Reichler et al., 2012; Dekerle et al., 2022). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1969. Ectopic ureter in a male dog.. J Am Vet Med Assoc — PubMed:PMID5812515 — OMIA Phene_Article / Article - 1971. Ectopic ureter in the dog.. J Am Vet Med Assoc — PubMed:PMID5106547 — OMIA Phene_Article / Article - 1973. Canine ectopic ureter--two further case reports.. J Small Anim Pract — PubMed:PMID4789312 | DOI:10.1111/j.1748-5827.1973.tb06496.x — OMIA Phene_Article / Article - 1974. Ectopic ureter in dogs: epidemiologic features.. Teratology — PubMed:PMID4428421 | DOI:10.1002/tera.1420100206 — OMIA Phene_Article / Article - 1975. Urinary incontinence due to ectopic ureter in a male dog.. J Am Vet Med Assoc — PubMed:PMID1168184 — OMIA Phene_Article / Article - 1976. Ectopic ureter in the bitch.. Vet Rec — PubMed:PMID1274140 | DOI:10.1136/vr.98.15.299 — OMIA Phene_Article / Article - 1980. Bilateral ectopic ureter in a male dog with urinary incontinence.. J Am Vet Med Assoc — PubMed:PMID7462081 — OMIA Phene_Article / Article - 1986. Ectopic ureter in a dog: extension from the kidney to the urinary bladder and to the urethra.. J Am Vet Med Assoc — PubMed:PMID3744991 — OMIA Phene_Article / Article - 1998. Ultrasonographic findings in 14 dogs with ectopic ureter.. Vet Radiol Ultrasound — PubMed:PMID9634190 | DOI:10.1111/j.1740-8261.1998.tb00343.x — OMIA Phene_Article / Article - 1999. What is your diagnosis? Ectopic ureter.. J Am Vet Med Assoc — PubMed:PMID10319171 — OMIA Phene_Article / Article - 2000. Four cases of lowered urethral pressure in canine ectopic ureter.. J Vet Med Sci — PubMed:PMID11129871 | DOI:10.1292/jvms.62.1221 — OMIA Phene_Article / Article - 2002. Urinary incontinence in a dog with an ectopic ureterocele.. J Am Anim Hosp Assoc — PubMed:PMID11804312 | DOI:10.5326/0380029 — OMIA Phene_Article / Article - (36 additional references in OMIA) - 1969. Ectopic ureter in a male dog. J Am Vet Med Assoc — PubMed:PMID5812515 — OMIA Phene_Article / Article - 1971. Ectopic ureter in the dog. J Am Vet Med Assoc — PubMed:PMID5106547 — OMIA Phene_Article / Article - 1973. Canine ectopic ureter--two further case reports. J Small Anim Pract — PubMed:PMID4789312 | DOI:10.1111/j.1748-5827.1973.tb06496.x — OMIA Phene_Article / Article - 1974. Ectopic ureter in dogs: epidemiologic features. Teratology — PubMed:PMID4428421 | DOI:10.1002/tera.1420100206 — OMIA Phene_Article / Article - 1975. Urinary incontinence due to ectopic ureter in a male dog. J Am Vet Med Assoc — PubMed:PMID1168184 — OMIA Phene_Article / Article - 1976. Ectopic ureter in the bitch. Vet Rec — PubMed:PMID1274140 | DOI:10.1136/vr.98.15.299 — OMIA Phene_Article / Article - 1980. Bilateral ectopic ureter in a male dog with urinary incontinence. J Am Vet Med Assoc — PubMed:PMID7462081 — OMIA Phene_Article / Article - 1986. Ectopic ureter in a dog: extension from the kidney to the urinary bladder and to the urethra. J Am Vet Med Assoc — PubMed:PMID3744991 — OMIA Phene_Article / Article - 1998. Ultrasonographic findings in 14 dogs with ectopic ureter. Vet Radiol Ultrasound — PubMed:PMID9634190 | DOI:10.1111/j.1740-8261.1998.tb00343.x — OMIA Phene_Article / Article - 1999. What is your diagnosis? Ectopic ureter. J Am Vet Med Assoc — PubMed:PMID10319171 — OMIA Phene_Article / Article - 2000. Four cases of lowered urethral pressure in canine ectopic ureter. J Vet Med Sci — PubMed:PMID11129871 | DOI:10.1292/jvms.62.1221 — OMIA Phene_Article / Article - 2002. Urinary incontinence in a dog with an ectopic ureterocele. J Am Anim Hosp Assoc — PubMed:PMID11804312 | DOI:10.5326/0380029 — OMIA Phene_Article / Article - (36 additional references in OMIA) - 1969. Ectopic ureter in a male dog. J Am Vet Med Assoc — PubMed:PMID5812515 — OMIA Phene_Article / Article - 1971. Ectopic ureter in the dog. J Am Vet Med Assoc — PubMed:PMID5106547 — OMIA Phene_Article / Article - 1973. Canine ectopic ureter--two further case reports. J Small Anim Pract — PubMed:PMID4789312 | DOI:10.1111/j.1748-5827.1973.tb06496.x — OMIA Phene_Article / Article - 1974. Ectopic ureter in dogs: epidemiologic features. Teratology — PubMed:PMID4428421 | DOI:10.1002/tera.1420100206 — OMIA Phene_Article / Article - 1975. Urinary incontinence due to ectopic ureter in a male dog. J Am Vet Med Assoc — PubMed:PMID1168184 — OMIA Phene_Article / Article - 1976. Ectopic ureter in the bitch. Vet Rec — PubMed:PMID1274140 | DOI:10.1136/vr.98.15.299 — OMIA Phene_Article / Article - 1980. Bilateral ectopic ureter in a male dog with urinary incontinence. J Am Vet Med Assoc — PubMed:PMID7462081 — OMIA Phene_Article / Article - 1986. Ectopic ureter in a dog: extension from the kidney to the urinary bladder and to the urethra. J Am Vet Med Assoc — PubMed:PMID3744991 — OMIA Phene_Article / Article - 1998. Ultrasonographic findings in 14 dogs with ectopic ureter. Vet Radiol Ultrasound — PubMed:PMID9634190 | DOI:10.1111/j.1740-8261.1998.tb00343.x — OMIA Phene_Article / Article - 1999. What is your diagnosis? Ectopic ureter. J Am Vet Med Assoc — PubMed:PMID10319171 — OMIA Phene_Article / Article - 2000. Four cases of lowered urethral pressure in canine ectopic ureter. J Vet Med Sci — PubMed:PMID11129871 | DOI:10.1292/jvms.62.1221 — OMIA Phene_Article / Article - 2002. Urinary incontinence in a dog with an ectopic ureterocele. J Am Anim Hosp Assoc — PubMed:PMID11804312 | DOI:10.5326/0380029 — OMIA Phene_Article / Article - (36 additional references in OMIA) - 1969. Ectopic ureter in a male dog. J Am Vet Med Assoc — PubMed:PMID5812515 — OMIA Phene_Article / Article - 1971. Ectopic ureter in the dog. J Am Vet Med Assoc — PubMed:PMID5106547 — OMIA Phene_Article / Article - 1973. Canine ectopic ureter--two further case reports. J Small Anim Pract — PubMed:PMID4789312 | DOI:10.1111/j.1748-5827.1973.tb06496.x — OMIA Phene_Article / Article - 1974. Ectopic ureter in dogs: epidemiologic features. Teratology — PubMed:PMID4428421 | DOI:10.1002/tera.1420100206 — OMIA Phene_Article / Article - 1975. Urinary incontinence due to ectopic ureter in a male dog. J Am Vet Med Assoc — PubMed:PMID1168184 — OMIA Phene_Article / Article - 1976. Ectopic ureter in the bitch. Vet Rec — PubMed:PMID1274140 | DOI:10.1136/vr.98.15.299 — OMIA Phene_Article / Article - 1980. Bilateral ectopic ureter in a male dog with urinary incontinence. J Am Vet Med Assoc — PubMed:PMID7462081 — OMIA Phene_Article / Article - 1986. Ectopic ureter in a dog: extension from the kidney to the urinary bladder and to the urethra. J Am Vet Med Assoc — PubMed:PMID3744991 — OMIA Phene_Article / Article - 1998. Ultrasonographic findings in 14 dogs with ectopic ureter. Vet Radiol Ultrasound — PubMed:PMID9634190 | DOI:10.1111/j.1740-8261.1998.tb00343.x — OMIA Phene_Article / Article - 1999. What is your diagnosis? Ectopic ureter. J Am Vet Med Assoc — PubMed:PMID10319171 — OMIA Phene_Article / Article - 2000. Four cases of lowered urethral pressure in canine ectopic ureter. J Vet Med Sci — PubMed:PMID11129871 | DOI:10.1292/jvms.62.1221 — OMIA Phene_Article / Article - 2002. Urinary incontinence in a dog with an ectopic ureterocele. J Am Anim Hosp Assoc — PubMed:PMID11804312 | DOI:10.5326/0380029 — OMIA Phene_Article / Article - (36 additional references in OMIA) - 1969. Ectopic ureter in a male dog. J Am Vet Med Assoc — PubMed:PMID5812515 — OMIA Phene_Article / Article - 1971. Ectopic ureter in the dog. J Am Vet Med Assoc — PubMed:PMID5106547 — OMIA Phene_Article / Article - 1973. Canine ectopic ureter--two further case reports. J Small Anim Pract — PubMed:PMID4789312 | DOI:10.1111/j.1748-5827.1973.tb06496.x — OMIA Phene_Article / Article - 1974. Ectopic ureter in dogs: epidemiologic features. Teratology — PubMed:PMID4428421 | DOI:10.1002/tera.1420100206 — OMIA Phene_Article / Article - 1975. Urinary incontinence due to ectopic ureter in a male dog. J Am Vet Med Assoc — PubMed:PMID1168184 — OMIA Phene_Article / Article - 1976. Ectopic ureter in the bitch. Vet Rec — PubMed:PMID1274140 | DOI:10.1136/vr.98.15.299 — OMIA Phene_Article / Article - 1980. Bilateral ectopic ureter in a male dog with urinary incontinence. J Am Vet Med Assoc — PubMed:PMID7462081 — OMIA Phene_Article / Article - 1986. Ectopic ureter in a dog: extension from the kidney to the urinary bladder and to the urethra. J Am Vet Med Assoc — PubMed:PMID3744991 — OMIA Phene_Article / Article - 1998. Ultrasonographic findings in 14 dogs with ectopic ureter. Vet Radiol Ultrasound — PubMed:PMID9634190 | DOI:10.1111/j.1740-8261.1998.tb00343.x — OMIA Phene_Article / Article - 1999. What is your diagnosis? Ectopic ureter. J Am Vet Med Assoc — PubMed:PMID10319171 — OMIA Phene_Article / Article - 2000. Four cases of lowered urethral pressure in canine ectopic ureter. J Vet Med Sci — PubMed:PMID11129871 | DOI:10.1292/jvms.62.1221 — OMIA Phene_Article / Article - 2002. Urinary incontinence in a dog with an ectopic ureterocele. J Am Anim Hosp Assoc — PubMed:PMID11804312 | DOI:10.5326/0380029 — OMIA Phene_Article / Article - (36 additional references in OMIA) [281]

Eurasier — Dandy-Walker-like malformation; inferior cerebellar hypoplasia (hereditary; OMIA-verified breed predisposition)

Breed: Eurasier (Dog) [282]

Disorder: Dandy-Walker-like malformation; inferior cerebellar hypoplasia [282]

Clin feat: This disorder in Eurasier dogs was described by Bernardino et al. (2015): A uniform cerebellar malformation characterized by consistent absence of the caudal portions of the cerebellar vermis and, to a lesser degree, the caudal portions of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was recognized in 14 closely related Eurasier dogs. Hydrocephalus was an additional feature in some dogs. All dogs displayed non-progressive ataxia, which had already been noted when the dogs were 5 - 6 weeks old. The severity of the ataxia varied between dogs, from mild truncal sway, subtle dysmetric gait, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia in puppies and episodic falling or rolling. Follow-up examinations in adult dogs showed improvement of the cerebellar ataxia and a still absent menace response. Epileptic seizures occurred in some dogs. The association of partial vermis agenesis with an enlarged fourth ventricle and an enlarged caudal (posterior) fossa resembled a Dandy-Walker-like malformation in some dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244833 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Comparison of the whole-genome sequence of one of the affected Eurasier dogs with similar data from 47 dogs of other breeds enabled Gerber et al. (2015) to narrow the candidate field down to 4 non-synonymous variants. Genotyping of these four variants in 34 Eurasier dogs revealed only one variant that co-segregated perfectly with the disorder allele: a single bp deletion in VLDLR (c.1713delC) whic… Evidence (references) - 2015. Inferior cerebellar hypoplasia resembling a dandy-walker-like malformation in purebred eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study. PLoS One — PubMed:PMID25668516 | DOI:10.1371/journal.pone.0117670 — OMIA Phene_Article / Article - 2015. A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). PLoS One — PubMed:PMID25668033 | DOI:10.1371/journal.pone.0108917 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:224050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:192977 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [282]

Eurasier — Polioencephalopathy, MECR-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Rawson et al. (2024): Three Eurasier dogs (littermates) presented with early onset movement disorders (9 weeks in 2, 4-6 months in 1). Progressive gait abnormalities were detected in 2 of the dogs, persistent divergent strabismus in 1, whereas consciousness and behavior remained intact in all dogs. One dog was euthanized at 25 months.. Magnetic resonance imaging of the brain in Dogs 1 and 2 identified symmetrical, bilateral T2 and fluid attenuated inversion recovery hyperintense, T1 hypo to isointense, nonenhancing lesions of the caudate nucleus, lateral and medial geniculate nuclei, thalamus, hippocampus, rostral colliculus and mild generalized brain atrophy. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298860 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Rawson et al. (2024): "Whole genome sequencing of Dog 1 and further genetic analyses in the family were performed. A cohort of 115 Eurasier controls was genotyped for specific variants. ... [The authors] investigations support MECR:c.823A>G [XM_038531348.1:c.823A>G; XP_038387276.1:p.(Met275Val)] as a possible causative variant for this presumed hereditary and progressive PE in these litterma… Evidence (references) - 2024. Polioencephalopathy in Eurasier dogs. J Vet Intern Med — PubMed:PMID38041431 | DOI:10.1111/jvim.16945 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608205 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617282 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [283]

Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-related (hereditary; OMIA-verified breed predisposition)

Breed: Finnish Hound (Dog) [284]

Clin feat: Neurological examinations on ten affected dogs revealed rapidly progressing generalized cerebellar ataxia, tremors, and failure to thrive. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI. (Kyöstilä et al. (2012) [284]

Pathology: Pathological and histological examinations indicated cerebellum-restricted neurodegeneration. Marked loss of Purkinje cells was detected in the cerebellar cortex with secondary changes in other cortical layers. (Kyöstilä et al. (2012) [284]

Control: A simple blood test is now available for detecting carriers of the causative mutation. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 274066165 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Kyöstilä et al. (2012) reported the causative mutation as being a "missense mutation, c.1972T>C; p.Ser658Pro, in a highly conserved protein domain" of the SEL1L gene, whose peptide is a "component of the endoplasmic reticulum (ER)–associated protein degradation (ERAD) machinery". Since mutations in this gene have not previously been reported in any species, this discovery provides a new potenti… Evidence (references) - 2012. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet — PubMed:PMID22719266 | DOI:10.1371/journal.pgen.1002759 — OMIA Phene_Article / Article - 1971. [Cerebellar ataxia in a Finnish hurrier] Ett fall av cerebellar ataxi hos finsk stövare (Swedish). Suomen Eläinlääkärilehti — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:602329 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [284]

Finnish Lapphund — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)

Breed: Finnish Lapphund (Dog) [285]

Clin feat: Affected dogs exhibit regurgitation and recurrent vomiting of mucus. Constant panting, dyspnoea, dysphonia, and dysphagia are evident at 13 months (Seppälä et al., 2013). Loss of condition, progressive muscular weakness, and exercise intolerance may become apparent (Almodóvar-Payá et al., 2020). Glycogen storage disease II (GSD II) in dogs may lead to decreases in ALP, and increases in ALAT, BUN, and glucose levels (Walvoort et al., 1984). Biochemical studies demonstrated a severe deficiency of acid α-glucosidase activity in heart, skeletal muscle, and liver fibroblasts. Glycogen content was substantially elevated in the heart and skeletal muscle (Walvoort et al., 1982). Haematology shows increases in monocyte count and increases in mean platelet volume at 18 months (Seppälä et al., 2013). Radiographs of affected dogs show dilatation of the oesophagus and cardiac enlargement; ultrasound indicates liver changes (Seppälä et al., 2013). GSD II is often associated with clinical heart disease and myocardial hypertrophy (Walvoort et al., 1984). [285]

Pathology: Acid α-glucosidase is responsible for the degradation of glycogen to glucose in lysosomes. Dogs with GSD II are significantly deficient in active acid α-glucosidase, leading to the accumulation of glycogen inside lysosomes of the heart, skeletal muscle, and smooth muscle (Almodóvar-Payá et al., 2020). This excessive glycogen storage may lead to progressive muscular weakness, cardiac hypertrophy, cardio-respiratory failure, and death (Walvoort et al.,1985; Seppälä et al., 2013). A finding unique to GSD II in dogs is the megaoesophagus and its associated symptoms of regurgitation and vomiting (Seppälä et al., 2013). [285]

Prevalence: Seppälä et al. (2013) screened 95 Finnish Lapphunds, 99 Lapponian Herders and 34 Swedish Lapphunds for the c.2237GA; p.W746* causal mutation, observing 5%, 2% and zero carriers, respectively. This mutation was not present in 304 dogs from 21 other breeds. The same authors state that they identified carriers from Lapponian Herders although no affected cases have been reported in this breed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249964 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Adopting the comparative candidate-gene approach (based on similarity of diagnostic signs with humans), Seppälä et al. (2013) sequenced the canine GAA gene (encoding acid α-glucosidase) in "two affected Finnish Lapphunds, their dam and an unrelated healthy 8-year-old Finnish Lapphund as control", revealing a causal nonsense mutation: a "c.2237G>A mutation leading to a premature stop codon at amino… Evidence (references) - 1970. A case of glycogenic cardiomegaly in a dog. Acta Vet Scand — PubMed:PMID5270856 | DOI:10.1186/BF03547980 — OMIA Phene_Article / Article - 1993. Molecular biology, therapeutic trials and animal models of lysosomal storage diseases - Type-II glycogenosis as an example. Annales de Biologie Clinique — OMIA Phene_Article / Article - 1985. Glycogen storage disease type II in the Lapland dog. Vet Q — PubMed:PMID3901497 — OMIA Phene_Article / Article - 1985. Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II. Res Vet Sci — PubMed:PMID3923581 — OMIA Phene_Article / Article - 1985. Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis — PubMed:PMID3921759 — OMIA Phene_Article / Article - 1984. Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet — PubMed:PMID6391168 | DOI:10.1002/ajmg.1320190323 — OMIA Phene_Article / Article - 1983. Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis — PubMed:PMID6408305 — OMIA Phene_Article / Article - 1982. Canine glycogen storage disease type II. A biochemical study of an acid alpha-glucosidase-deficient Lapland dog. Biochim Biophys Acta — PubMed:PMID7041988 — OMIA Phene_Article / Article - 2013. A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One — PubMed:PMID23457621 | DOI:10.1371/journal.pone.0056825 — OMIA Phene_Article / Article - 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article - 2015. Large animal models and new therapies for glycogen storage disease. J Inherit Metab Dis — PubMed:PMID25224826 | DOI:10.1007/s10545-014-9766-8 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:232300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606800 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [285]

Finnish Lapphund — Retinal atrophy, progressive, IFT122-related (hereditary; OMIA-verified breed predisposition)

Summary: Kaukonen et al. (2021): Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants in PRCD and BEST1 genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively. However, all retinal dystrophy cases in LHs are not explained by these variants.. We report here a recessive missense variant in IFT122 as a candidate causal variant for a novel canine RP model.. [286]

Clin feat: Kaukonen et al. (2021): examinations had revealed clinical findings compatible with generalized PRA in 10 LHs (five males, five females), as these dogs presented with bilateral, diffuse tapetal hyperreflectivity and vessel attenuation. Two of the 10 cases were only examined as young or middle-aged adults (at 1.9 and 5.1 years of age) when they exhibited only mild fundus changes and were therefore diagnosed to have “PRA suspected”. The remaining eight dogs were also examined later in life and had been diagnosed as “PRA affected” at an average age of 9.0 years (± SD 2.9). Typical early findings included night blindness and diffuse tapetal hyperreflectivity. Disease progression was slow as some of the affected dogs still had some visual capacity left at 13 years. All the cases were genotyped for the PRCD p.C2Y and the cmr3 (p.P463fs, p.G489V) variants.. Of the 10 cases, all were wild-type for the PRCD variant, while four were wild-type and six heterozygous for the two cmr3 variants.. Spectral-domain optical coherence tomography (SD-OCT) was performed.. The thicknesses of the whole retina with the retinal pigment epithelium (RPE) and outer retinal layers, including outer nuclear layer, inner segments and outer segments of photoreceptors, and RPE, were severely reduced in the affected dog.. Interestingly, the photoreceptor layer was not completely lost despite the dog’s old age.. Apart from the ocular signs, all three dogs were clinically healthy. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244977 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Kaukonen et al. (2021): "whole-genome sequencing of an affected LH [Lapponian Herders] revealed a missense variant, c.3176G>A, in the intraflagellar transport 122 (IFT122) gene. The variant was also found in Finnish Lapphunds, in which its clinical relevancy needs to be studied further. The variant interrupts a highly conserved residue, p.(R1059H)." Evidence (references) - 2021. A missense variant in IFT122 associated with a canine model of retinitis pigmentosa. Hum Genet — PubMed:PMID33606121 | DOI:10.1007/s00439-021-02266-3 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606045 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:218330 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [286]

Flat-Coated Retriever — Histiocytosis, malignant (hereditary; OMIA-verified breed predisposition)

Breed: Flat-Coated Retriever (Dog) [168]

Flat-Coated Retriever — Obesity (hereditary; OMIA-verified breed predisposition)

Clin feat: Obesity is a common condition that affects a large percentage of our companion animals (Raffan et al., 2016). Though a high calory diet and a lack of exercise may be at the base, a genetic component to obesity has been investigated (Raffan et al., 2016; Mankowska et al., 2017). A 14bp deletion in the proopiomelanocortin (POMC) gene was found in some Labrador retrievers and Flat-coated retrievers (Raffan et al., 2016). This mutation is predicted to disrupts the action of two peptides (β-MSH and β-endorphin), which are potent appetite and energy metabolism regulators. Due to a disrupted control of appetite, dogs with this mutation are more prone to overfeeding and hence gaining weight and adiposity (Raffan et al., 2016). An increased incidence of this mutation has been reported in assistance dogs, suggesting that selection of food-driven dogs for better trainability purposes inadvertently lead to the selection for this mutation. This mutation has not yet been identified in other breeds and doesn’t seem to have any correlation with diabetes mellitus to date (Davison et al., 2017). [287]

Prevalence: Intriguingly, Raffan et al. (2016) reported that the frequency of the POMC deletion was 45% in a group of 81 Labrador retrievers used as assistance dog breeding stock compared with a frequency of around 12% in random samples of Labrador Retrievers. As the authors explain, Temperament and ‘‘trainability’’ are the main drivers for selection of assistance dogs, and ‘‘positive reinforcement’’ with food reward is a mainstay of puppy training. We therefore hypothesize that dogs carrying the POMC deletion may be more likely to be selected as assistance dogs. The fact that the allelic frequency at this locus is significantly out of Hardy-Weinberg equilibrium in assistance dog breeding stock could be seen as support for the notion that selection has occurred at this locus. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: ACTH (Entrez Gene ID 388199157) — OMIA Phene_Gene / GeneSynonym - Gene: ADCY8 (Entrez Gene ID 388249697) — OMIA Phene_Gene / GeneSynonym - Gene: Entrez Gene ID 398299015 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2016. A deletion in the canine POMC gene is associated with weight and appetite in obesity-prone Labrador Retriever dogs. Cell Metab — PubMed:PMID27157046 | DOI:10.1016/j.cmet.2016.04.012 — OMIA Phene_Article / Article - 2017. Confirmation that a deletion in the POMC gene is associated with body weight of Labrador Retriever dogs. Res Vet Sci — PubMed:PMID28235700 | DOI:10.1016/j.rvsc.2017.02.014 — OMIA Phene_Article / Article - 2017. The canine POMC gene, obesity in Labrador Retrievers and susceptibility to diabetes mellitus. J Vet Intern Med — PubMed:PMID28176381 | DOI:10.1111/jvim.14636 — OMIA Phene_Article / Article - 2017. Polymorphism and methylation of the MC4R gene in obese and non-obese dogs. Mol Biol Rep — PubMed:PMID28755272 | DOI:10.1007/s11033-017-4114-3 — OMIA Phene_Article / Article - 2020. The genetic basis of obesity and related metabolic diseases in humans and companion animals. Genes — PubMed:PMID33233816 | DOI:10.3390/genes11111378 — OMIA Phene_Article / Article - 2021. Adipositas beim Hund – ein Überblick zu den Ursachen [Obesity in dogs - A review of underlying reasons]. Tierarztl Prax Ausg K Kleintiere Heimtiere — PubMed:PMID34425607 | DOI:10.1055/a-1548-2293 — OMIA Phene_Article / Article - 2022. No evidence that long runs of homozygosity tend to harbor risk variants for polygenic obesity in Labrador retriever dogs. J Appl Genet — PubMed:PMID35471496 | DOI:10.1007/s13353-022-00693-0 — OMIA Phene_Article / Article - 2023. A study of 41 canine orthologues of human genes involved in monogenic obesity reveals marker in the ADCY3 for body weight in Labrador Retrievers. Vet Sci — PubMed:PMID37368776 | DOI:10.3390/vetsci10060390 — OMIA Phene_Article / Article - 2024. Obesity risk factors in British Labrador retrievers: Effect of sex, neuter status, age, chocolate coat colour and food motivation. Vet Rec — PubMed:PMID37747436 | DOI:10.1002/vetr.3410 — OMIA Phene_Article / Article - 2023. Uncovering structural variants associated with body weight and obesity risk in labrador retrievers: a genome-wide study. Front Genet — PubMed:PMID37799139 | DOI:10.3389/fgene.2023.1235821 — OMIA Phene_Article / Article - 2024. Low resting metabolic rate and increased hunger due to β-MSH and β-endorphin deletion in a canine model. Sci Adv — PubMed:PMID38446876 | DOI:10.1126/sciadv.adj3823 — OMIA Phene_Article / Article - 2024. Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight. Sci Rep — PubMed:PMID38480780 | DOI:10.1038/s41598-024-56060-y — OMIA Phene_Article / Article - (3 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:164160 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614962 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [287]

Fox Terrier — Congenital idiopathic megaesophagus (hereditary; OMIA-verified breed predisposition)

Breed: Fox Terrier (Dog) [222]

Foxhound — Pelger-Huet anomaly (hereditary; OMIA-verified breed predisposition)

Breed: Foxhound (Dog) [125]

French Bulldog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: French Bulldog (Dog) [68]

French Bulldog — Coat colour, HPS3-related (hereditary; OMIA-verified breed predisposition)

Clin feat: HPS3 deficient (cocoa) coloured dogs are born brown. Their colour darkens with age and they become slightly darker than TYRP1-deficient (chocolate) dogs as adults (Kiener et al. 2020). So far, it has not been investigated whether cocoa coloured dogs have any bleeding disorder or visual impairments, similar to what has been observed in human patients with Hermansky-Pudlak syndrome 3. [288]

Pathology: Laukner et al. (2021): As HPS3 variants in humans cause the Hermansky-Pudlak syndrome type 3, which in addition to oculocutaneous albinism is characterized by a storage pool deficiency leading to bleeding tendency, we also investigated the phenotypic consequences of the HPS3 variant in French Bulldogs on hematological parameters. HPS3 mutant dogs had a significantly lowered platelet dense granules abundance. However, no increased bleeding tendencies in daily routine were reported by dog owners. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388251625 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2020. Novel brown coat color (cocoa) in French bulldogs results from a nonsense variant in HPS3. Genes (Basel) — PubMed:PMID32526956 | DOI:10.3390/genes11060636 — OMIA Phene_Article / Article - 2021. Effects of Cocoa genotypes on coat color, platelets and coagulation parameters in French bulldogs. Genes (Basel) — PubMed:PMID34356108 | DOI:10.3390/genes12071092 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:614072 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606118 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [288]

French Bulldog — Congenital hypothyroidism with goiter (hereditary; OMIA-verified breed predisposition)

Disorder: Congenital hypothyroidism with goiter [289]

Summary: Congenital hypothyroidism (CH) is an endocrine disorder characterized by inadequate T4 levels early in life concurrent with signs of hypothyroidism. Disease can be primary (failure to make T4), which is due to abnormal thyroid development or function. Primary hypothyroidism often presents with goiter but can be due to thyroid dysgenesis. CH can be secondary (failure to make bioactive TSH), which is caused by abnormal pituitary development or function. CH can also be tertiary (failure to make TRH) due to abnormal hypothalamic function. Signs of CH with goiter include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, and delay in maturation changes such as dental eruption, opening of eyes and ear canals, and growth of guard hairs. Other signs include thickened subcutis, lethargy, unresponsiveness, and failure to suckle. The disorder is lethal unless diagnosed and treated early. Goiter, extremely low T4, and increased TSH are signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs. In dogs likely causal variants have been described in at least two genes (TPO - described in this entry, and SLC5A5 - see 'OMIA002174-9615 Hypothyroidism, congenital dyshormonogenic, with goiter). Non-genetic forms of the condition are possible and may represent some of the case studies for which references are listed in this entry. The mode of inheritance is autosomal recessive for TPO-related congenital hypothyroidism in dogs. Causative mutations in 3 terrier breeds and the Spanish water dog are all in the gene that codes for thyroid peroxidase (TPO), the enzyme responsible for irreversible binding of iodide to thyroglobulin. This process is known as organification of iodide, and it is a necessary step of thyroid hormone synthesis. If thyroid peroxidase activity is not present, the animal is unable to make T4 and presents with primary hypothyroidism. Goiter develops as thyroid cells undergo hypertrophy and hyperplasia due to unrelenting TSH stimulation. DNA-based tests are available to detect the TPO mutation in all 4 breeds. Breeding of carrier animals to each other is not recommended. If a carrier animal is bred to a homozygous normal animal, testing the offspring is advised. Edited by John C. Fyfe, D.V.M., Ph.D. (edited by IT 22/5/2022) [289]

Clin feat: Signs include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, delayed dental eruption, delayed opening of eyes and ear canals, delayed haircoat maturation, thickened subcutis, lethargy, unresponsiveness, failure to suckle. Goiter, extremely low T4, and increased TSH are signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs. Onset of signs is early (less than one week of age) in primary congenital hypothyroidism Clinical signs of iodine toxicosis in fetal and early postnatal life are similar to those of congenital hypothyroidism but the two disorders are distinguished by different thyroid histology. [289]

Pathology: Congenital hypothyroidism caused by a mutation in TPO is a form of dyshormonogenesis. Thyroid peroxidase is the enzyme responsible for irreversible binding of iodide to thyroglobulin, a necessary step of thyroid hormone synthesis. If thyroid peroxidase activity is not present, the animal is unable to make thyroid hormones and will present with primary hypothyroidism (Fyfe et al., 2003). Goiter will develop in a few weeks due to unrelenting TSH secretion. [289]

Prevalence: Most hypothyroidism is not congenital – only 3.6% of hypothyroid dogs are less than one year of age (Bojanic et al., 2011). Rat Terriers are thought to have acquired the mutation fairly recently, as a result of interbreeding with Toy Fox Terriers (Pettigrew et al., 2007). [289]

Control: Breeding of carrier animals to each other is not recommended. If a carrier animal is bred to a homozygous normal animal, testing the offspring is advised. [289]

Gen test: DNA-based tests are available to detect the mutations in all 4 breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403521 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 1990. Cutaneous Mucinous Vesiculation in a Dog with Hypothyroidism. Journal of the American Veterinary Medical Association — PubMed:PMID2307615 — OMIA Phene_Article / Article - 1989. Canine Hypothyroidism - Etiology, Incidence, Symptoms, Diagnosis and Treatment. Annales de Medecine Veterinaire — OMIA Phene_Article / Article - 1991. Congenital hypothyroid dwarfism in a family of Giant Schnauzers. J Vet Intern Med — PubMed:PMID2061865 | DOI:10.1111/j.1939-1676.1991.tb00932.x — OMIA Phene_Article / Article - 1993. Insulin Resistance in 3 Dogs with Hypothyroidism and Diabetes mellitus. Journal of the American Veterinary Medical Association — PubMed:PMID8496104 — OMIA Phene_Article / Article - 1993. Congenital Hypothyroidism in a Boxer Dog. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1993. Plasma Cholesterol and Lipoprotein Concentrations in the Dog - The Effects of Age, Breed, Gender and Endocrine Disease. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1993. Altered platelet indices in dogs with hypothyroidism and cats with hyperthyroidism. Am J Vet Res — PubMed:PMID8116929 — OMIA Phene_Article / Article - 1994. Hypothyroidism in Dogs - 66 Cases (1987-1992). Journal of the American Veterinary Medical Association — PubMed:PMID8175472 — OMIA Phene_Article / Article - 1994. Neurological Signs Related to Hypothyroidism in the Dog - Review of the Literature and Case Reports. Schweizer Archiv Fur Tierheilkunde — PubMed:PMID8091179 — OMIA Phene_Article / Article - 1994. Plasma von Willebrand factor antigen concentration in dogs with hypothyroidism. Journal of the American Veterinary Medical Association — PubMed:PMID7730121 — OMIA Phene_Article / Article - 1995. Isolation of thyroid peroxidase and lack of autoantibodies to the enzyme in dogs with autoimmune thyroid disease. American Journal of Veterinary Research — PubMed:PMID7695146 — OMIA Phene_Article / Article - 1995. Hypothyroidism and von Willebrand factor. Journal of the American Veterinary Medical Association — PubMed:PMID7744675 — OMIA Phene_Article / Article - (97 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:274500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606765 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [289]

French Bulldog — Muscle hypertrophy, dysphagia, and gait abnormalities (hereditary; OMIA-verified breed predisposition)

Summary: Shelton et al. (2024) describe 4 French Bulldogs with muscle hypertrophy, swallowing disorders, and gait abnormalities. Two of the dogs had a likely causal variant in the CLCN1 gene (see [OMIA:000698-9615]: Myotonia in Canis lupus familiaris for details). Whole genome sequencing in one dog identified a variant in PDE4C [c15dup; XP_038422764.1:p.A6Rfs*46], which is the major phosphodiesterase expressed in skeletal muscle and may play a role in decreasing muscle atrophy. In one case for which whole genome sequencing was not performed, genotyping for the identified variants was not confirmed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs.. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — OMIA Phene_Article / Article - 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — OMIA Phene_Article / Article - 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — OMIA Phene_Article / Article - 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — OMIA Phene_Article / Article - 2024. Variants in CLCN1 and PDE4C associated with muscle hypertrophy, dysphagia, and gait abnormalities in young French Bulldogs. Animals (Basel) — PubMed:PMID38473107 | DOI:10.3390/ani14050722 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600128 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [290]

French Spaniel — hereditary sensory neuropathy (hereditary; OMIA-verified breed predisposition)

Breed: French Spaniel (Dog) [272]

Frisian Water Dog — Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive (hereditary; OMIA-verified breed predisposition)

Breed: Frisian Water Dog (Dog) [291]

Summary: See also '[OMIA:000220-9615]: Severe combined immunodeficiency disease, autosomal, PRKDC-related' for severe combined immunodeficiency disease caused by genetic variants in the PRKDC gene. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3482170 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Verfuurden et al. (2011): c.2893G>T; p.Glu965* in Frisian Water Dog Evidence (references) - 2011. Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun — PubMed:PMID21293384 | DOI:10.1038/gene.2011.6 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601457 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:179615 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:179616 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [291]

Galgo Español — Bald thigh syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Galgo Español (Dog) [292]

Mode of inheritance: Brunner et al. (2019) concluded that BTS [bald thigh syndrome] is caused by structural HS [hair shaft] defects which are associated with the downregulation of genes and proteins essential for HS differentiation and HS assembly. The underlying genetic defect has not yet been identified and we suggest a complex mode of inheritance. [292]

Summary: Brunner et al. (2019): Bald thigh syndrome (BTS) is a hair loss disorder seen in Greyhounds and other sighthound breeds into which the Greyhound has been introgressed such as Whippets, Galgo Español, and Magyar Agár. [292]

Clin feat: Brunner et al. (2019): BTS is characterized by bilateral hair loss on the caudal and lateral thighs, but alopecia may extend to the distal hind legs, the ventral abdomen and the chest. In some cases even the ventral neck is involved. Dogs of any age and sex may be affected. [292]

Pathology: Brunner et al. (2019): While the histology is rather unspecific in most cases, trichogram analysis and scanning electron microscopy revealed severe structural abnormalities in hair shafts of affected dogs. This finding is supported by the results of the transcriptomic and proteomic profiling where genes and proteins important for differentiation of the inner root sheath and the assembly of a proper hair shaft were downregulated. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA molecular-genetics note: Brunner et al. (2019): "The genetic analysis revealed a missense variant in the IGFBP5 gene homozygous in all available Greyhounds and other sighthounds. Further research is required to clarify whether the IGFBP5 variant represents a predisposing genetic risk factor." Because of this cautious conclusion, this variant has not been included in the OMIA table of likely causal variants. Evidence (references) - 2019. Bald thigh syndrome in sighthounds-Revisiting the cause of a well-known disease. PLoS One — PubMed:PMID30794648 | DOI:10.1371/journal.pone.0212645 — OMIA Phene_Article / Article - 2007. Results of a web-based health survey of retired racing Greyhounds. J Vet Intern Med — PubMed:PMID18196733 | DOI:10.1892/07-063.1 — OMIA Phene_Article / Article - 2000. Bald thigh syndrome of Greyhound dogs: gross and microscopic findings. Veterinary Dermatology — PubMed:PMID34644855 | DOI:10.1046/j.1365-3164.2000.00175.x — OMIA Phene_Article / Article [292]

German Hunting Terrier — Exercise induced metabolic myopathy (hereditary; OMIA-verified breed predisposition)

Breed: German Hunting Terrier (Dog) [293]

Clin feat: Lepori et al. (2018): Clinical signs included exercise induced weakness, muscle pain, and suspected rhabdomyolysis. Affected dogs have elevated serum creatine kinase (CK) and alanine aminotransferase (ALT) activities. An acylcarnitine profile from blood revealed an elevated tetradecenoylcarnitine (C14:1) peak suggesting the diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD). [293]

Pathology: Lepori et al. (2018): Muscle samples harvested from the affected German Hunting Terriers. revealed a mild to moderate necrotizing myopathy with enrichment of interfibrillar lipid droplets and mitochondrial abnormalities. Changes were widely spread and more prominent in type 2 fibers. Nerve biopsies. were unremarkable. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388254161 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Lepori et al. (2018): "Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the [comparative functional candidate] ACADVL gene encoding acyl-CoA dehydrogenase very long chain, c.1728C>A or p.(Tyr576*). The variant showed perfect association with the phenotype in the 10 affected and more than 500 control dogs of various breeds." Evidence (references) - 2018. A nonsense variant in the ACADVL gene in German Hunting Terriers with exercise induced metabolic myopathy. G3 (Bethesda) — PubMed:PMID29491033 | DOI:10.1534/g3.118.200084 — OMIA Phene_Article / Article - 2019. Verlaufsuntersuchungen bei Deutschen Jagdterriern mit belastungsabhängiger metabolischer Myopathie [Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy]. Tierarztl Prax Ausg K Kleintiere Heimtiere — PubMed:PMID31814088 | DOI:10.1055/a-1027-2533 — OMIA Phene_Article / Article - 2023. Identification of Genetic Risk Factors for Monogenic and Complex Canine Diseases. Annu Rev Anim Biosci — PubMed:PMID36322969 | DOI:10.1146/annurev-animal-050622-055534 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:201475 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609575 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [293]

German Longhaired Pointer — Thyroid follicular cell carcinoma, predisposition to (hereditary; OMIA-verified breed predisposition)

Breed: German Longhaired Pointer (Dog) [294]

Summary: Yu et al. (2021) described familial thyroid follicular cell carcinomas in Dutch German longhaired pointers (GLPs). Yu et al. (2021) investigated the genetic causes of the disease using a combined approach of genome-wide association study and runs of homozygosity (ROH) analysis based on 170k SNP array genotype data and whole-genome sequences. [294]

Clin feat: Yu et al. (2021): The age of diagnosis ranged between 4.5 and 13.5 years, and 76% of cases were diagnosed before 10 years of age, implying an early onset of disease. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403521 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2021. Deleterious mutations in the TPO gene associated with familial thyroid follicular cell carcinoma in Dutch German longhaired pointers. Genes (Basel) — PubMed:PMID34209805 | DOI:10.3390/genes12070997 — OMIA Phene_Article / Article - 2022. Familial follicular cell thyroid carcinomas in a large number of Dutch German longhaired pointers. Vet Comp Oncol — PubMed:PMID34464021 | DOI:10.1111/vco.12769 — OMIA Phene_Article / Article - 2022. A recurrent somatic missense mutation in GNAS gene identified in familial thyroid follicular cell carcinomas in German longhaired pointer dogs. BMC Genomics — PubMed:PMID36151521 | DOI:10.1186/s12864-022-08885-y — OMIA Phene_Article / Article - 2025. Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas. Commun Biol — PubMed:PMID41353477 | DOI:10.1038/s42003-025-09225-y — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606765 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603386 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:188550 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605642 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [294]

German Pinscher — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: German Pinscher (Dog) [94]

German Pinscher — Glycogen storage disease Ia (hereditary; OMIA-verified breed predisposition)

Summary: Glycogen storage disease I is a severe disorder of glycogen metabolism characterized by glycogen accumulation, particularly in the liver. Signs include severe hepatomegaly, failure to thrive, coma, and death. There is a genetic test available. [295]

Clin feat: Affected animals are hypoglycemic if fasted, and develop lactic acidosis, hypertriglyceridemia, and hyperuricemia (Specht et al., 2011). Signs include severe hepatomegaly, poor body condition, lethargy, failure to thrive, coma, and death. [295]

Pathology: Glucose-6-phosphate catalyzes the production of glucose from glucose-6-phosphate. The mutant G6PC has 15 times less activity than the normal enzyme (Kishnani et al., 1997) and decreased amounts in the liver and kidney (Kishnani et al., 2001). Affected dogs develop severe hypoglycemia, glycogen storage, and progressive hepatomegaly. Hepatocytes are diffusely vacuolated, containing large quantities of glycogen. Soft tissue mineralization can occur in renal tubules and pulmonary alveolar septa (Brix et al., 1995). [295]

Prevalence: Christen et al. (2021) genotyped 208 German Pinscher dogs for the German Pinscher variant and identified a carrier frequency of 12%. [295]

Gen test: The base substitution in Maltese Terriers removes an NcoI restriction site, thereby enabling a simple RFLP PCR test to detect carriers. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: G6Pase (Entrez Gene ID 3429665) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 1995. Glycogen storage disease type Ia in two littermate maltese puppies. Veterinary Pathology — PubMed:PMID8578635 — OMIA Phene_Article / Article - 1997. Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med — PubMed:PMID9259982 | DOI:10.1006/bmme.1997.2600 — OMIA Phene_Article / Article - 2001. Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Veterinary Pathology — PubMed:PMID11199168 — OMIA Phene_Article / Article - 2002. Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors. Gene Therapy — PubMed:PMID12101432 | DOI:10.1038/sj.gt.3301728 — OMIA Phene_Article / Article - 2011. Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease. J Biomed Biotechnol — PubMed:PMID21318173 | DOI:10.1155/2011/646257 — OMIA Phene_Article / Article - 2011. Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia. Gene Ther — PubMed:PMID21654821 | DOI:10.1038/gt.2011.86 — OMIA Phene_Article / Article - 2010. Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther — PubMed:PMID20163245 | DOI:10.1089/hum.2009.157 — OMIA Phene_Article / Article - 2008. AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. Mol Ther — PubMed:PMID18362924 | DOI:10.1038/mt.2008.15 — OMIA Phene_Article / Article - 2013. Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. Mol Genet Metab — PubMed:PMID23623482 | DOI:10.1016/j.ymgme.2013.03.018 — OMIA Phene_Article / Article - 2012. In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. J Inherit Metab Dis — PubMed:PMID22310927 | DOI:10.1007/s10545-012-9454-5 — OMIA Phene_Article / Article - 2012. Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia. Hum Gene Ther — PubMed:PMID22185325 | DOI:10.1089/hum.2011.106 — OMIA Phene_Article / Article - 2009. Gene therapy for inhereted metabolic disorders in companion animals. ILAR J — PubMed:PMID19293457 | DOI:10.1093/ilar.50.2.122 — OMIA Phene_Article / Article - (8 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:232200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613742 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [295]

German Pointer — Epidermolysis bullosa, junctionalis, LAMA3-related (hereditary; OMIA-verified breed predisposition)

Breed: German Pointer (Dog) [104]

German Shepherd Dog — Anal furunculosis (hereditary; OMIA-verified breed predisposition)

Breed: German Shepherd Dog (Dog) [296]

Gen test: The Kennel Club's list of genetic tests (http://www.thekennelclub.org.uk/download/8288/DNA-Tests-Worldwide-2.pdf) includes an indirect DNA test for this disorder, based on the MHC association reported by Kennedy et al. (2008). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2009. Analysis of NOD1, NOD2, TLR1, TLR2, TLR4, TLR5, TLR6 and TLR9 genes in anal furunculosis of German shepherd dogs.. Tissue Antigens — PubMed:PMID19254256 | DOI:10.1111/j.1399-0039.2008.01190.x — OMIA Phene_Article / Article - 2009. Association of canine anal furunculosis with TNFA is secondary to linkage disequilibrium with DLA-DRB1.. Tissue Antigens — PubMed:PMID19254251 | DOI:10.1111/j.1399-0039.2008.01188.x — OMIA Phene_Article / Article - 2008. Interleukin-2 and interferon-gamma mRNA expression in canine anal furunculosis lesions and the effect of ciclosporin therapy.. Vet Immunol Immunopathol — PubMed:PMID18541310 | DOI:10.1016/j.vetimm.2008.04.018 — OMIA Phene_Article / Article - 2008. Risk of anal furunculosis in German shepherd dogs is associated with the major histocompatibility complex.. Tissue Antigens — PubMed:PMID17999655 | DOI:10.1111/j.1399-0039.2007.00964.x — OMIA Phene_Article / Article - 2014. Genetics of canine anal furunculosis in the German shepherd dog.. Immunogenetics — PubMed:PMID24626934 | DOI:10.1007/s00251-014-0766-5 — OMIA Phene_Article / Article - 1973. The management of anal furunculosis.. J Small Anim Pract — PubMed:PMID4803921 | DOI:10.1111/j.1748-5827.1973.tb06467.x — OMIA Phene_Article / Article - 1980. Anal furunculosis: a review of seventy cases.. J Small Anim Pract — PubMed:PMID7230744 | DOI:10.1111/j.1748-5827.1980.tb01359.x — OMIA Phene_Article / Article - 1980. Canine anal furunculosis: a modified approach.. J Small Anim Pract — PubMed:PMID7230745 | DOI:10.1111/j.1748-5827.1980.tb01360.x — OMIA Phene_Article / Article - 1988. Anal furunculosis.. Vet Rec — PubMed:PMID3195021 | DOI:10.1136/vr.123.13.355-b — OMIA Phene_Article / Article - 1988. Anal furunculosis.. Vet Rec — PubMed:PMID3201692 | DOI:10.1136/vr.123.17.452 — OMIA Phene_Article / Article - 1988. Anal furunculosis.. Vet Rec — PubMed:PMID3201701 | DOI:10.1136/vr.123.19.499 — OMIA Phene_Article / Article - 1988. Anal furunculosis.. Vet Rec — PubMed:PMID3206811 | DOI:10.1136/vr.123.21.555-a — OMIA Phene_Article / Article - 2009. Analysis of NOD1, NOD2, TLR1, TLR2, TLR4, TLR5, TLR6 and TLR9 genes in anal furunculosis of German shepherd dogs. Tissue Antigens — PubMed:PMID19254256 | DOI:10.1111/j.1399-0039.2008.01190.x — OMIA Phene_Article / Article - 2009. Association of canine anal furunculosis with TNFA is secondary to linkage disequilibrium with DLA-DRB1. Tissue Antigens — PubMed:PMID19254251 | DOI:10.1111/j.1399-0039.2008.01188.x — OMIA Phene_Article / Article - 2008. Interleukin-2 and interferon-gamma mRNA expression in canine anal furunculosis lesions and the effect of ciclosporin therapy. Vet Immunol Immunopathol — PubMed:PMID18541310 | DOI:10.1016/j.vetimm.2008.04.018 — OMIA Phene_Article / Article - 2008. Risk of anal furunculosis in German shepherd dogs is associated with the major histocompatibility complex. Tissue Antigens — PubMed:PMID17999655 | DOI:10.1111/j.1399-0039.2007.00964.x — OMIA Phene_Article / Article - 2014. Genetics of canine anal furunculosis in the German shepherd dog. Immunogenetics — PubMed:PMID24626934 | DOI:10.1007/s00251-014-0766-5 — OMIA Phene_Article / Article - 1973. The management of anal furunculosis. J Small Anim Pract — PubMed:PMID4803921 | DOI:10.1111/j.1748-5827.1973.tb06467.x — OMIA Phene_Article / Article - 1980. Anal furunculosis: a review of seventy cases. J Small Anim Pract — PubMed:PMID7230744 | DOI:10.1111/j.1748-5827.1980.tb01359.x — OMIA Phene_Article / Article - 1980. Canine anal furunculosis: a modified approach. J Small Anim Pract — PubMed:PMID7230745 | DOI:10.1111/j.1748-5827.1980.tb01360.x — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3195021 | DOI:10.1136/vr.123.13.355-b — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3201692 | DOI:10.1136/vr.123.17.452 — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3201701 | DOI:10.1136/vr.123.19.499 — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3206811 | DOI:10.1136/vr.123.21.555-a — OMIA Phene_Article / Article - 2009. Analysis of NOD1, NOD2, TLR1, TLR2, TLR4, TLR5, TLR6 and TLR9 genes in anal furunculosis of German shepherd dogs. Tissue Antigens — PubMed:PMID19254256 | DOI:10.1111/j.1399-0039.2008.01190.x — OMIA Phene_Article / Article - 2009. Association of canine anal furunculosis with TNFA is secondary to linkage disequilibrium with DLA-DRB1. Tissue Antigens — PubMed:PMID19254251 | DOI:10.1111/j.1399-0039.2008.01188.x — OMIA Phene_Article / Article - 2008. Interleukin-2 and interferon-gamma mRNA expression in canine anal furunculosis lesions and the effect of ciclosporin therapy. Vet Immunol Immunopathol — PubMed:PMID18541310 | DOI:10.1016/j.vetimm.2008.04.018 — OMIA Phene_Article / Article - 2008. Risk of anal furunculosis in German shepherd dogs is associated with the major histocompatibility complex. Tissue Antigens — PubMed:PMID17999655 | DOI:10.1111/j.1399-0039.2007.00964.x — OMIA Phene_Article / Article - 2014. Genetics of canine anal furunculosis in the German shepherd dog. Immunogenetics — PubMed:PMID24626934 | DOI:10.1007/s00251-014-0766-5 — OMIA Phene_Article / Article - 1973. The management of anal furunculosis. J Small Anim Pract — PubMed:PMID4803921 | DOI:10.1111/j.1748-5827.1973.tb06467.x — OMIA Phene_Article / Article - 1980. Anal furunculosis: a review of seventy cases. J Small Anim Pract — PubMed:PMID7230744 | DOI:10.1111/j.1748-5827.1980.tb01359.x — OMIA Phene_Article / Article - 1980. Canine anal furunculosis: a modified approach. J Small Anim Pract — PubMed:PMID7230745 | DOI:10.1111/j.1748-5827.1980.tb01360.x — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3195021 | DOI:10.1136/vr.123.13.355-b — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3201692 | DOI:10.1136/vr.123.17.452 — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3201701 | DOI:10.1136/vr.123.19.499 — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3206811 | DOI:10.1136/vr.123.21.555-a — OMIA Phene_Article / Article - 2009. Analysis of NOD1, NOD2, TLR1, TLR2, TLR4, TLR5, TLR6 and TLR9 genes in anal furunculosis of German shepherd dogs. Tissue Antigens — PubMed:PMID19254256 | DOI:10.1111/j.1399-0039.2008.01190.x — OMIA Phene_Article / Article - 2009. Association of canine anal furunculosis with TNFA is secondary to linkage disequilibrium with DLA-DRB1. Tissue Antigens — PubMed:PMID19254251 | DOI:10.1111/j.1399-0039.2008.01188.x — OMIA Phene_Article / Article - 2008. Interleukin-2 and interferon-gamma mRNA expression in canine anal furunculosis lesions and the effect of ciclosporin therapy. Vet Immunol Immunopathol — PubMed:PMID18541310 | DOI:10.1016/j.vetimm.2008.04.018 — OMIA Phene_Article / Article - 2008. Risk of anal furunculosis in German shepherd dogs is associated with the major histocompatibility complex. Tissue Antigens — PubMed:PMID17999655 | DOI:10.1111/j.1399-0039.2007.00964.x — OMIA Phene_Article / Article - 2014. Genetics of canine anal furunculosis in the German shepherd dog. Immunogenetics — PubMed:PMID24626934 | DOI:10.1007/s00251-014-0766-5 — OMIA Phene_Article / Article - 1973. The management of anal furunculosis. J Small Anim Pract — PubMed:PMID4803921 | DOI:10.1111/j.1748-5827.1973.tb06467.x — OMIA Phene_Article / Article - 1980. Anal furunculosis: a review of seventy cases. J Small Anim Pract — PubMed:PMID7230744 | DOI:10.1111/j.1748-5827.1980.tb01359.x — OMIA Phene_Article / Article - 1980. Canine anal furunculosis: a modified approach. J Small Anim Pract — PubMed:PMID7230745 | DOI:10.1111/j.1748-5827.1980.tb01360.x — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3195021 | DOI:10.1136/vr.123.13.355-b — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3201692 | DOI:10.1136/vr.123.17.452 — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3201701 | DOI:10.1136/vr.123.19.499 — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3206811 | DOI:10.1136/vr.123.21.555-a — OMIA Phene_Article / Article - 2009. Analysis of NOD1, NOD2, TLR1, TLR2, TLR4, TLR5, TLR6 and TLR9 genes in anal furunculosis of German shepherd dogs. Tissue Antigens — PubMed:PMID19254256 | DOI:10.1111/j.1399-0039.2008.01190.x — OMIA Phene_Article / Article - 2009. Association of canine anal furunculosis with TNFA is secondary to linkage disequilibrium with DLA-DRB1*. Tissue Antigens — PubMed:PMID19254251 | DOI:10.1111/j.1399-0039.2008.01188.x — OMIA Phene_Article / Article - 2008. Interleukin-2 and interferon-gamma mRNA expression in canine anal furunculosis lesions and the effect of ciclosporin therapy. Vet Immunol Immunopathol — PubMed:PMID18541310 | DOI:10.1016/j.vetimm.2008.04.018 — OMIA Phene_Article / Article - 2008. Risk of anal furunculosis in German shepherd dogs is associated with the major histocompatibility complex. Tissue Antigens — PubMed:PMID17999655 | DOI:10.1111/j.1399-0039.2007.00964.x — OMIA Phene_Article / Article - 2014. Genetics of canine anal furunculosis in the German shepherd dog. Immunogenetics — PubMed:PMID24626934 | DOI:10.1007/s00251-014-0766-5 — OMIA Phene_Article / Article - 1973. The management of anal furunculosis. J Small Anim Pract — PubMed:PMID4803921 | DOI:10.1111/j.1748-5827.1973.tb06467.x — OMIA Phene_Article / Article - 1980. Anal furunculosis: a review of seventy cases. J Small Anim Pract — PubMed:PMID7230744 | DOI:10.1111/j.1748-5827.1980.tb01359.x — OMIA Phene_Article / Article - 1980. Canine anal furunculosis: a modified approach. J Small Anim Pract — PubMed:PMID7230745 | DOI:10.1111/j.1748-5827.1980.tb01360.x — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3195021 | DOI:10.1136/vr.123.13.355-b — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3201692 | DOI:10.1136/vr.123.17.452 — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3201701 | DOI:10.1136/vr.123.19.499 — OMIA Phene_Article / Article - 1988. Anal furunculosis. Vet Rec — PubMed:PMID3206811 | DOI:10.1136/vr.123.21.555-a — OMIA Phene_Article / Article [296]

German Shepherd Dog — German Shepherd dog pyoderma (hereditary; OMIA-verified breed predisposition)

Disorder: German Shepherd dog pyoderma [297]

Mode of inheritance: Wisselink et al. (1989) presented pedigree data and claimed autosomal recessive inheritance, but did not actually conduct a segregation analysis. Rosser (2006): Although dogs with GSP may have clinically similar presentations, the underlying causes of the disease process can be multifactorial in etiology.. [P]urebred German Shepherd Dogs are predisposed to the development of this disease, but it is important to note that a similar condition may occur in German Shepherd crossbred dogs and other herding breeds of dogs. [297]

Clin feat: Rosser (2006): The most common lesion initially observed in cases of GSP is clinically similar to that of a “hot spot” and is usually first noticed in the lumbosacral region, lateral hip, or lateral thigh region.. As the disease progresses, several additional lesions may be observed, including areas of posttraumatic alopecia, hyperpigmentation, papules, pustules, hemorrhagic bullae, ulcers, crusts, and draining tracts (usually with a hemopurulent discharge) with surrounding friable tissue. The disease ultimately takes on the appearance of chronic deep pyoderma or cellulitis, and there is frequently an associated regional lymphadenopathy. Less commonly observed clinical signs may include a purulent otitis externa, perianal fistulas, focal metatarsal fistulas (sterile pedal panniculitis), and fever with signs of systemic illness [Denerolle et al., 1998; Rosser 1997; Ihrke DeManuelle, 1999]. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1988. Immunologic aspects of German shepherd dog pyoderma (GSP).. Vet Immunol Immunopathol — PubMed:PMID3176335 | DOI:10.1016/0165-2427(88)90047-5 — OMIA Phene_Article / Article - 1989. German shepherd dog pyoderma: a genetic disorder.. Vet Q — PubMed:PMID2781707 | DOI:10.1080/01652176.1989.9694215 — OMIA Phene_Article / Article - 1990. Investigations on the role of flea antigen in the pathogenesis of German shepherd dog pyoderma (GSP).. Vet Q — PubMed:PMID2321348 | DOI:10.1080/01652176.1990.9694237 — OMIA Phene_Article / Article - 1990. Investigations on the role of staphylococci in the pathogenesis of German shepherd dog pyoderma (GSP).. Vet Q — PubMed:PMID2321349 | DOI:10.1080/01652176.1990.9694238 — OMIA Phene_Article / Article - 1994. An immunopathological study of deep pyoderma in the dog.. Res Vet Sci — PubMed:PMID8146448 | DOI:10.1016/0034-5288(94)90190-2 — OMIA Phene_Article / Article - 1995. Tissue immunoglobulin G subclasses observed in immune-mediated dermatopathy, deep pyoderma and hypersensitivity dermatitis in dogs.. Res Vet Sci — PubMed:PMID7709067 | DOI:10.1016/0034-5288(95)90094-2 — OMIA Phene_Article / Article - 1995. Lymphocyte subset abnormalities in German shepherd dog pyoderma (GSP).. Vet Immunol Immunopathol — PubMed:PMID8746694 | DOI:10.1016/0165-2427(95)05463-4 — OMIA Phene_Article / Article - 1997. German shepherd dog pyoderma: a prospective study of 12 dogs.. J Am Anim Hosp Assoc — PubMed:PMID9204474 | DOI:10.5326/15473317-33-4-355 — OMIA Phene_Article / Article - 1997. Aspects of the humoral immune response to Staphylococcus intermedius in dogs with superficial pyoderma, deep pyoderma and anal furunculosis.. Vet Immunol Immunopathol — PubMed:PMID9336879 | DOI:10.1016/s0165-2427(97)00029-9 — OMIA Phene_Article / Article - 2004. Antibiotic responsive ulcerative dermatoses in German Shepherd Dogs with mucocutaneous pyoderma.. Aust Vet J — PubMed:PMID15359964 | DOI:10.1111/j.1751-0813.2004.tb11165.x — OMIA Phene_Article / Article - 2006. German Shepherd Dog pyoderma.. Vet Clin North Am Small Anim Pract — PubMed:PMID16364785 | DOI:10.1016/j.cvsm.2005.09.008 — OMIA Phene_Article / Article - 2014. Azithromycin pharmacokinetics in the serum and its distribution to the skin in healthy dogs and dogs with pyoderma.. Vet J — PubMed:PMID24472431 | DOI:10.1016/j.tvjl.2013.12.022 — OMIA Phene_Article / Article - (8 additional references in OMIA) - 1988. Immunologic aspects of German shepherd dog pyoderma (GSP). Vet Immunol Immunopathol — PubMed:PMID3176335 | DOI:10.1016/0165-2427(88)90047-5 — OMIA Phene_Article / Article - 1989. German shepherd dog pyoderma: a genetic disorder. Vet Q — PubMed:PMID2781707 | DOI:10.1080/01652176.1989.9694215 — OMIA Phene_Article / Article - 1990. Investigations on the role of flea antigen in the pathogenesis of German shepherd dog pyoderma (GSP). Vet Q — PubMed:PMID2321348 | DOI:10.1080/01652176.1990.9694237 — OMIA Phene_Article / Article - 1990. Investigations on the role of staphylococci in the pathogenesis of German shepherd dog pyoderma (GSP). Vet Q — PubMed:PMID2321349 | DOI:10.1080/01652176.1990.9694238 — OMIA Phene_Article / Article - 1994. An immunopathological study of deep pyoderma in the dog. Res Vet Sci — PubMed:PMID8146448 | DOI:10.1016/0034-5288(94)90190-2 — OMIA Phene_Article / Article - 1995. Tissue immunoglobulin G subclasses observed in immune-mediated dermatopathy, deep pyoderma and hypersensitivity dermatitis in dogs. Res Vet Sci — PubMed:PMID7709067 | DOI:10.1016/0034-5288(95)90094-2 — OMIA Phene_Article / Article - 1995. Lymphocyte subset abnormalities in German shepherd dog pyoderma (GSP). Vet Immunol Immunopathol — PubMed:PMID8746694 | DOI:10.1016/0165-2427(95)05463-4 — OMIA Phene_Article / Article - 1997. German shepherd dog pyoderma: a prospective study of 12 dogs. J Am Anim Hosp Assoc — PubMed:PMID9204474 | DOI:10.5326/15473317-33-4-355 — OMIA Phene_Article / Article - 1997. Aspects of the humoral immune response to Staphylococcus intermedius in dogs with superficial pyoderma, deep pyoderma and anal furunculosis. Vet Immunol Immunopathol — PubMed:PMID9336879 | DOI:10.1016/s0165-2427(97)00029-9 — OMIA Phene_Article / Article - 2004. Antibiotic responsive ulcerative dermatoses in German Shepherd Dogs with mucocutaneous pyoderma. Aust Vet J — PubMed:PMID15359964 | DOI:10.1111/j.1751-0813.2004.tb11165.x — OMIA Phene_Article / Article - 2006. German Shepherd Dog pyoderma. Vet Clin North Am Small Anim Pract — PubMed:PMID16364785 | DOI:10.1016/j.cvsm.2005.09.008 — OMIA Phene_Article / Article - 2014. Azithromycin pharmacokinetics in the serum and its distribution to the skin in healthy dogs and dogs with pyoderma. Vet J — PubMed:PMID24472431 | DOI:10.1016/j.tvjl.2013.12.022 — OMIA Phene_Article / Article - (8 additional references in OMIA) - 1988. Immunologic aspects of German shepherd dog pyoderma (GSP). Vet Immunol Immunopathol — PubMed:PMID3176335 | DOI:10.1016/0165-2427(88)90047-5 — OMIA Phene_Article / Article - 1989. German shepherd dog pyoderma: a genetic disorder. Vet Q — PubMed:PMID2781707 | DOI:10.1080/01652176.1989.9694215 — OMIA Phene_Article / Article - 1990. Investigations on the role of flea antigen in the pathogenesis of German shepherd dog pyoderma (GSP). Vet Q — PubMed:PMID2321348 | DOI:10.1080/01652176.1990.9694237 — OMIA Phene_Article / Article - 1990. Investigations on the role of staphylococci in the pathogenesis of German shepherd dog pyoderma (GSP). Vet Q — PubMed:PMID2321349 | DOI:10.1080/01652176.1990.9694238 — OMIA Phene_Article / Article - 1994. An immunopathological study of deep pyoderma in the dog. Res Vet Sci — PubMed:PMID8146448 | DOI:10.1016/0034-5288(94)90190-2 — OMIA Phene_Article / Article - 1995. Tissue immunoglobulin G subclasses observed in immune-mediated dermatopathy, deep pyoderma and hypersensitivity dermatitis in dogs. Res Vet Sci — PubMed:PMID7709067 | DOI:10.1016/0034-5288(95)90094-2 — OMIA Phene_Article / Article - 1995. Lymphocyte subset abnormalities in German shepherd dog pyoderma (GSP). Vet Immunol Immunopathol — PubMed:PMID8746694 | DOI:10.1016/0165-2427(95)05463-4 — OMIA Phene_Article / Article - 1997. German shepherd dog pyoderma: a prospective study of 12 dogs. J Am Anim Hosp Assoc — PubMed:PMID9204474 | DOI:10.5326/15473317-33-4-355 — OMIA Phene_Article / Article - 1997. Aspects of the humoral immune response to Staphylococcus intermedius in dogs with superficial pyoderma, deep pyoderma and anal furunculosis. Vet Immunol Immunopathol — PubMed:PMID9336879 | DOI:10.1016/s0165-2427(97)00029-9 — OMIA Phene_Article / Article - 2004. Antibiotic responsive ulcerative dermatoses in German Shepherd Dogs with mucocutaneous pyoderma. Aust Vet J — PubMed:PMID15359964 | DOI:10.1111/j.1751-0813.2004.tb11165.x — OMIA Phene_Article / Article - 2006. German Shepherd Dog pyoderma. Vet Clin North Am Small Anim Pract — PubMed:PMID16364785 | DOI:10.1016/j.cvsm.2005.09.008 — OMIA Phene_Article / Article - 2014. Azithromycin pharmacokinetics in the serum and its distribution to the skin in healthy dogs and dogs with pyoderma. Vet J — PubMed:PMID24472431 | DOI:10.1016/j.tvjl.2013.12.022 — OMIA Phene_Article / Article - (8 additional references in OMIA) - 1988. Immunologic aspects of German shepherd dog pyoderma (GSP). Vet Immunol Immunopathol — PubMed:PMID3176335 | DOI:10.1016/0165-2427(88)90047-5 — OMIA Phene_Article / Article - 1989. German shepherd dog pyoderma: a genetic disorder. Vet Q — PubMed:PMID2781707 | DOI:10.1080/01652176.1989.9694215 — OMIA Phene_Article / Article - 1990. Investigations on the role of flea antigen in the pathogenesis of German shepherd dog pyoderma (GSP). Vet Q — PubMed:PMID2321348 | DOI:10.1080/01652176.1990.9694237 — OMIA Phene_Article / Article - 1990. Investigations on the role of staphylococci in the pathogenesis of German shepherd dog pyoderma (GSP). Vet Q — PubMed:PMID2321349 | DOI:10.1080/01652176.1990.9694238 — OMIA Phene_Article / Article - 1994. An immunopathological study of deep pyoderma in the dog. Res Vet Sci — PubMed:PMID8146448 | DOI:10.1016/0034-5288(94)90190-2 — OMIA Phene_Article / Article - 1995. Tissue immunoglobulin G subclasses observed in immune-mediated dermatopathy, deep pyoderma and hypersensitivity dermatitis in dogs. Res Vet Sci — PubMed:PMID7709067 | DOI:10.1016/0034-5288(95)90094-2 — OMIA Phene_Article / Article - 1995. Lymphocyte subset abnormalities in German shepherd dog pyoderma (GSP). Vet Immunol Immunopathol — PubMed:PMID8746694 | DOI:10.1016/0165-2427(95)05463-4 — OMIA Phene_Article / Article - 1997. German shepherd dog pyoderma: a prospective study of 12 dogs. J Am Anim Hosp Assoc — PubMed:PMID9204474 | DOI:10.5326/15473317-33-4-355 — OMIA Phene_Article / Article - 1997. Aspects of the humoral immune response to Staphylococcus intermedius in dogs with superficial pyoderma, deep pyoderma and anal furunculosis. Vet Immunol Immunopathol — PubMed:PMID9336879 | DOI:10.1016/s0165-2427(97)00029-9 — OMIA Phene_Article / Article - 2004. Antibiotic responsive ulcerative dermatoses in German Shepherd Dogs with mucocutaneous pyoderma. Aust Vet J — PubMed:PMID15359964 | DOI:10.1111/j.1751-0813.2004.tb11165.x — OMIA Phene_Article / Article - 2006. German Shepherd Dog pyoderma. Vet Clin North Am Small Anim Pract — PubMed:PMID16364785 | DOI:10.1016/j.cvsm.2005.09.008 — OMIA Phene_Article / Article - 2014. Azithromycin pharmacokinetics in the serum and its distribution to the skin in healthy dogs and dogs with pyoderma. Vet J — PubMed:PMID24472431 | DOI:10.1016/j.tvjl.2013.12.022 — OMIA Phene_Article / Article - (8 additional references in OMIA) - 1988. Immunologic aspects of German shepherd dog pyoderma (GSP). Vet Immunol Immunopathol — PubMed:PMID3176335 | DOI:10.1016/0165-2427(88)90047-5 — OMIA Phene_Article / Article - 1989. German shepherd dog pyoderma: a genetic disorder. Vet Q — PubMed:PMID2781707 | DOI:10.1080/01652176.1989.9694215 — OMIA Phene_Article / Article - 1990. Investigations on the role of flea antigen in the pathogenesis of German shepherd dog pyoderma (GSP). Vet Q — PubMed:PMID2321348 | DOI:10.1080/01652176.1990.9694237 — OMIA Phene_Article / Article - 1990. Investigations on the role of staphylococci in the pathogenesis of German shepherd dog pyoderma (GSP). Vet Q — PubMed:PMID2321349 | DOI:10.1080/01652176.1990.9694238 — OMIA Phene_Article / Article - 1994. An immunopathological study of deep pyoderma in the dog. Res Vet Sci — PubMed:PMID8146448 | DOI:10.1016/0034-5288(94)90190-2 — OMIA Phene_Article / Article - 1995. Tissue immunoglobulin G subclasses observed in immune-mediated dermatopathy, deep pyoderma and hypersensitivity dermatitis in dogs. Res Vet Sci — PubMed:PMID7709067 | DOI:10.1016/0034-5288(95)90094-2 — OMIA Phene_Article / Article - 1995. Lymphocyte subset abnormalities in German shepherd dog pyoderma (GSP). Vet Immunol Immunopathol — PubMed:PMID8746694 | DOI:10.1016/0165-2427(95)05463-4 — OMIA Phene_Article / Article - 1997. German shepherd dog pyoderma: a prospective study of 12 dogs. J Am Anim Hosp Assoc — PubMed:PMID9204474 | DOI:10.5326/15473317-33-4-355 — OMIA Phene_Article / Article - 1997. Aspects of the humoral immune response to Staphylococcus intermedius in dogs with superficial pyoderma, deep pyoderma and anal furunculosis. Vet Immunol Immunopathol — PubMed:PMID9336879 | DOI:10.1016/s0165-2427(97)00029-9 — OMIA Phene_Article / Article - 2004. Antibiotic responsive ulcerative dermatoses in German Shepherd Dogs with mucocutaneous pyoderma. Aust Vet J — PubMed:PMID15359964 | DOI:10.1111/j.1751-0813.2004.tb11165.x — OMIA Phene_Article / Article - 2006. German Shepherd Dog pyoderma. Vet Clin North Am Small Anim Pract — PubMed:PMID16364785 | DOI:10.1016/j.cvsm.2005.09.008 — OMIA Phene_Article / Article - 2014. Azithromycin pharmacokinetics in the serum and its distribution to the skin in healthy dogs and dogs with pyoderma. Vet J — PubMed:PMID24472431 | DOI:10.1016/j.tvjl.2013.12.022 — OMIA Phene_Article / Article - (8 additional references in OMIA) [297]

German Shepherd Dog — Hip Dysplasia (hereditary; OMIA-verified breed predisposition)

Laxity of the hip joint, resulting from a shallow acetabulum and/or a small, mis-shapen head of the femur. In severe cases, affected animals are lame. [298]

Species-specific name: Canine hip dysplasia [298]

REDUCING NUTRITIONASSOCIATED GROWTH COMPLICATIONS Nutrient imbalances and excesses during growth may lead to developmental orthopedic diseases and subsequent development of osteoarthritis in largeand giant-breed dogs (FIGURE 1). [298]

ENERGY REQUIREMENTS Meal-restricted feeding has been shown to reduce the frequency of developmental orthopedic disease and early osteoarthritis in large- and giant-breed dogs compared to ad lib feeding2 by preventing the maximal rate of growth and therefore reducing mechanical stress to developing joint cartilage. [298]

Genetic correlations among canine hip dysplasia radiographic traits in a cohort of Australian German Shepherd Dogs, and implications for the design of a more effective genetic control program. [298]

Lumbosacral transitional vertebrae, canine hip dysplasia, and sacroiliac joint degenerative changes on ventrodorsal radiographs of the pelvis in police working German shepherd dogs. [298]

Evaluation of risk factors for degenerative joint disease associated with hip dysplasia in German Shepherd Dogs, Golden Retrievers, Labrador Retrievers, and Rottweilers [298]

An assessment of the agreement between the New Zealand Veterinary Association Hip Dysplasia Scoring System and the PennHIP Distraction Index in German Shepherd dogs. [298]

Skeletal development of Greyhounds, German Shepherd dogs and their crossbreed offspring: an investigation with special reference to hip dysplasia [298]

Isolation, characterization and molecular screening of canine SLC26A2 (sulphate transporter) in German Shepherd dogs with hip dysplasia. [298]

Heritability and phenotypic variation of canine hip dysplasia radiographic traits in a cohort of Australian German shepherd dogs. [298]

German Shepherd Dog — Ichthyosis, ASPRV1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Bauer et al. (2017) describe a novel non-epidermolytic form of ichthyosis in a German Shepherd. In this breed, until now, no ichthyosis cases have been reported in the scientific literature.... Dermatological examination revealed generalized hypotrichosis and focal areas of alopecia with generalized severe exfoliation of greyish scales and mild erythema. Comedones were seen on the ventral abdomen and in the perivulvar area. [299]

Pathology: Bauer et al. (2017): Histopathological analysis of four skin biopsies from different body regions revealed a severe laminar to compact orthokeratotic hyperkeratosis extending into the follicular infundibula in all biopsies. The keratin layers were multifocally exfoliating as large scales. The underlying epidermis was mildly hyperplastic. In the biopsy from the inguinal region, the infundibula of the hair follicles were moderately dilated. The histological findings were consistent with a cornification disorder and an inherited non-epidermolytic ichthyosis as possible cause. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248660 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bauer et al. (2017): "Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the ASPRV1 gene encoding "aspartic peptidase, retroviral-like 1", which is also known as skin aspartic protease (SASPase). The variant [omia.variant:111] was absent in both parents and therefore due to a de novo… Evidence (references) - 2017. A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet — PubMed:PMID28249031 | DOI:10.1371/journal.pgen.1006651 — OMIA Phene_Article / Article - 2021. Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol — PubMed:PMID34796560 | DOI:10.1111/vde.13033 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2022. Inheritance of monogenic hereditary skin disease and related canine breeds. Vet Sci — PubMed:PMID36006348 | DOI:10.3390/vetsci9080433 — OMIA Phene_Article / Article - 2024. Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis. Anim Genet — PubMed:PMID38549226 | DOI:10.1111/age.13423 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:146750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611765 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [299]

German Shepherd Dog — Leukocyte adhesion deficiency, type III (hereditary; OMIA-verified breed predisposition)

Clin feat: Key clinical signs include pyrexia, bleeding diathesis, and dental disease (Hugo Heading, 2014; Boudreaux et al.,2010). Other signs may include joint effusions (Hugo Heading, 2014), lameness, and infections, such as pododermatitis, deep pyoderma, and cellulitis (Boudreaux et al., 2010). Bleeding diathesis has been noted to occur following injury or surgery (Boudreaux et al., 2010; Hugo and Heading, 2014). Affected dogs have persistent leukocytosis and neutrophilia (Hugo Heading, 2014; Boudreaux et al., 2010). Assays of haemostasis may yield variable results, including prolonged buccal mucosal bleeding times, normal coagulation screening assays and vWF antigen concentration, and delayed platelet aggregation and clot retraction (Hugo Heading, 2014; Boudreaux et al., 2010). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 23858892 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing a likely candidate gene (based on clinical signs and pathology) in a single German Shepherd Dog that had been euthanased five years previously), Boudreaux et al. (2010) reported that a "12-base pair insertion was identified in the coding region for KINDLIN3 in the affected dog but not in the canine genome sequence or the control dog sequences. This mutation is predicted to result in … Evidence (references) - 2010. A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections. Thromb Haemost — PubMed:PMID20126836 | DOI:10.1160/TH09-09-0571 — OMIA Phene_Article / Article - 2014. Leucocyte adhesion deficiency III in a mixed-breed dog. Aust Vet J — PubMed:PMID24954630 | DOI:10.1111/avj.12206 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:612840 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607901 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [300]

German Shepherd Dog — Mannosidosis, beta (hereditary; OMIA-verified breed predisposition)

Clin feat: Jolly et al. (2019): A neurological disease was investigated in 3 German Shepherd pups from the same litter that failed to grow normally, appeared stiff, were reluctant to move, and were deaf. They developed intermittent seizures and ataxia and had proprioceptive defects. [301]

Pathology: Jolly et al. (2019): Histopathology showed severe vacuolation of neurons, astrocytes in nervous tissue, renal tubular epithelial cells, and macrophages in nervous tissue, spleen, and liver. Vacuoles appeared empty with no storage material stained by periodic acid–Schiff (PAS) or Sudan black stains, leading to a diagnosis of a lysosomal storage disease and in particular an oligosaccharidosis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253111 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2019. β-Mannosidosis in German Shepherd Dogs. Vet Pathol — PubMed:PMID30983534 | DOI:10.1177/0300985819839239 — OMIA Phene_Article / Article - 2019. Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization. Mol Genet Metab — PubMed:PMID31439511 | DOI:10.1016/j.ymgme.2019.08.002 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:248510 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609489 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [301]

German Shepherd Dog — Shaking puppy syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Shaking puppy syndrome [302]

Summary: Quitt et al. (2021) described a novel hypomyelinating leukodystrophy in 11 related German Shepherd dogs. The clinical course was nonprogressive and adult dogs walked with residual pelvic limb ataxia. Repeated conventional brain MRI was useful to characterize abnormal maturation of subcortical and cerebellar white matter. The disease is thought to be genetic in origin with an autosomal recessive mode of inheritance. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2021. A hypomyelinating leukodystrophy in German Shepherd dogs.. J Vet Intern Med — PubMed:PMID33734486 | DOI:10.1111/jvim.16085 — OMIA Phene_Article / Article - 2024. Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies.. J Vet Intern Med — PubMed:PMID38544400 | DOI:10.1111/jvim.17055 — OMIA Phene_Article / Article - 2021. A hypomyelinating leukodystrophy in German Shepherd dogs. J Vet Intern Med — PubMed:PMID33734486 | DOI:10.1111/jvim.16085 — OMIA Phene_Article / Article - 2024. Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies. J Vet Intern Med — PubMed:PMID38544400 | DOI:10.1111/jvim.17055 — OMIA Phene_Article / Article - 2021. A hypomyelinating leukodystrophy in German Shepherd dogs. J Vet Intern Med — PubMed:PMID33734486 | DOI:10.1111/jvim.16085 — OMIA Phene_Article / Article - 2024. Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies. J Vet Intern Med — PubMed:PMID38544400 | DOI:10.1111/jvim.17055 — OMIA Phene_Article / Article - 2021. A hypomyelinating leukodystrophy in German Shepherd dogs. J Vet Intern Med — PubMed:PMID33734486 | DOI:10.1111/jvim.16085 — OMIA Phene_Article / Article - 2024. Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies. J Vet Intern Med — PubMed:PMID38544400 | DOI:10.1111/jvim.17055 — OMIA Phene_Article / Article - 2021. A hypomyelinating leukodystrophy in German Shepherd dogs. J Vet Intern Med — PubMed:PMID33734486 | DOI:10.1111/jvim.16085 — OMIA Phene_Article / Article - 2024. Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies. J Vet Intern Med — PubMed:PMID38544400 | DOI:10.1111/jvim.17055 — OMIA Phene_Article / Article [302]

German Shepherd Dog — This entry includes information about primary hyperparathyroidism (PHPT) (hereditary; OMIA-verified breed predisposition)

Disorder: This entry includes information about primary hyperparathyroidism (PHPT) [303]

Mode of inheritance: Genetic forms of primary hyperparathyroidism include a suspected recessive form with early onset in German Shepherd puppies (Thompson et al., 1984) and an autosomal dominant form with adult onset in Keeshond (Goldstein et al., 2007). [303]

Summary: This disorder occurs in many different forms, many of which are not inherited. Goldstein et al. (2008) report that the majority of cases of primary hyperparathyroidism in dogs are due to adenoma, and that malignant parathyroid carcinoma are considered rare. Breed predispositions have been reported and a neonatal form of hyperparathyroidism with a suspected autosomal recessive mode of inheritance has been reported in German Shepherd puppies (Thompson et al., 1984) and inherited hyperparathyroidism with adult onset and a suspected autosomal dominant mode of inheritance has been reported in Keeshond (Goldstein et al., 2007). A non-published DNA test is offered for Keeshond. [303]

Clin feat: Across genetic and non-genetic forms of the disease, the most common clinical signs associated with canine hyperparathyroidism include polyuria (Thompson et al., 1984; Gear et al. 2005; Sakals et al., 2010; Jores and Kessler, 2011), polydipsia (Thompson et al., 1984; Gear et al., 2005; Sakals et al., 2010; Jores and Kessler, 2011) stiff gait (Jores and Kessler, 2011) and weakness (Thompson et al., 1984; Sakals et al., 2010). Less common clinical signs include anorexia (Sakals et al., 2010), stunted growth (Thompson et al., 1984) and reduced activity (Jores and Kessler, 2011). Changes in haematology and biochemistry have been noted, with many published case reports indicating mild to extensive hypercalcaemia (Thompson et al., 1984; Sakals et al., 2010; Jores and Kessler, 2011), hypophosphatemia (Thompson et al., 1984; Jores and Kessler, 2011) and elevated serum parathyroid hormone (Sakals et al., 2010; Jores and Kessler, 2011) to be the key changes associated with canine hyperparathyroidism. [303]

Pathology: Reported pathological findings are focused on the appearance of neoplastic lesions within the parathyroid gland/s, with the key diagnostic feature being nodular enlargement of the parathyroid gland (Gear et al., 2005). A study relating to a genetic form of the disease with early onset also noted reduced bone density (Thompson et al., 1984) using radiographs, likely as a result of calcium mobilisation from bones due to elevated serum parathyroid hormone in individuals with hyperparathyroidism. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA molecular-genetics note: A DNA test for the disorder in Keeshond is included in the OFA's list at https://ofa.org/all-dna-tests/, which directs enquiries to the Animal Health Diagnostic Center at Cornell University: https://www.vet.cornell.edu/animal-health-diagnostic-center/testing/protocols/primary-hyperparathyroidism. The molecular basis has not been published (American Kennel Club Canine Health Foundation, 2021). Evidence (references) - 1996. Primary hyperparathyroidism in a dog. Australian Veterinary Practitioner — OMIA Phene_Article / Article - 1996. Use of technetium tc 99M sestamibi for detection of a parathyroid adenoma in a dog with primary hyperparathyroidism. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1999. Primary hyperparathyreodism in dogs - the significance of parathyroidea sonography in 5 cases [German]. Kleintierpraxis — OMIA Phene_Article / Article - 1999. Percutaneous ultrasound-guided chemical parathyroid ablation for treatment of primary hyperparathyroidism in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID10416475 — OMIA Phene_Article / Article - 2001. Percutaneous ultrasonographically guided radiofrequency heat ablation for treatment of primary hyperparathyroidism in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID11318360 — OMIA Phene_Article / Article - 2005. What is your diagnosis? Primary hyperparathyroidism. J Am Vet Med Assoc — PubMed:PMID15706967 — OMIA Phene_Article / Article - 2005. Primary hyperparathyroidism in 29 dogs: diagnosis, treatment, outcome and associated renal failure. J Small Anim Pract — PubMed:PMID15682734 — OMIA Phene_Article / Article - 2007. Inheritance, mode of inheritance, and candidate genes for primary hyperparathyroidism in Keeshonden. J Vet Intern Med — PubMed:PMID17338170 — OMIA Phene_Article / Article - 2007. Primary hyperparathyroidism in dogs and cats. Clin Tech Small Anim Pract — PubMed:PMID17591292 | DOI:10.1053/j.ctsap.2007.03.006 — OMIA Phene_Article / Article - 2010. Diagnosing the etiology of hypercalcemia in a dog: a case of primary hyperparathyroidism. Vet Pathol — PubMed:PMID20472810 | DOI:10.1177/0300985809359604 — OMIA Phene_Article / Article - 2009. Primary hyperparathyroidism and monoclonal gammopathy in a dog. J Vet Intern Med — PubMed:PMID19175743 | DOI:10.1111/j.1939-1676.2008.0223.x — OMIA Phene_Article / Article - 2009. Validation of a rapid parathyroid hormone assay and intraoperative measurement of parathyroid hormone in dogs with benign naturally occurring primary hyperparathyroidism. Vet Surg — PubMed:PMID19152627 | DOI:10.1111/j.1532-950X.2008.00457.x — OMIA Phene_Article / Article - (13 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:145000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:145001 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239199 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:256120 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600166 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [303]

German Shepherd Dog — congenital idiopathic megaesophagus, CIM (hereditary; OMIA-verified breed predisposition)

Disorder: congenital idiopathic megaesophagus, CIM [304]

Summary: See also [OMIA:000631-9615]: Megaoesophagus, generic in Canis lupus familiaris (dog) [304]

Prevalence: Bell et al. (2022) reported that male GSDs are twice as likely to be affected as females and show that the sex bias is independent of body size. We propose that female endogenous factors (e.g., estrogen) are protective via their role in promoting relaxation of the sphincter between the esophagus and stomach, facilitating food passage. [304]

Control: Bell et al. (2022): Together, sex and the MCHR2 repeat sequence accurately predict affection status in over 75% of dogs, and a genetic test is now available to facilitate breeding decisions aimed at reducing disease incidence. [304]

Gen test: Kehl and Shelling (2025) assessed the usefulness if the congenital idiopathic megaoesophagus (CIM-test) in White Swiss shepherds: The results showed clearly that the CIM-test in this breed is almost not informative, and a selection would probably not reduce the prevalence but only lower the genetic variability. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: GPR145 (Entrez Gene ID 388199077) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Bell et al. (2022): "Within the first intron of MCHR2, we identified a 33 bp variable number tandem repeat (VNTR) containing a consensus binding sequence for the T-box family of transcription factors. Across dogs and wolves, the major allele includes two copies of the repeat, whereas the predominant alleles in GSDs have one or three copies. The single-copy allele is strongly associated with CIM [C… Evidence (references) - 2012. Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome — PubMed:PMID22105877 | DOI:10.1007/s00335-011-9376-9 — OMIA Phene_Article / Article - 2022. Congenital idiopathic megaesophagus in the German shepherd dog is a sex-differentiated trait and is associated with an intronic variable number tandem repeat in Melanin-Concentrating Hormone Receptor 2. PLoS Genet — PubMed:PMID35271580 | DOI:10.1371/journal.pgen.1010044 — OMIA Phene_Article / Article - 2019. Survey of owners on population characteristics, diagnosis, and environmental, health, and disease associations in dogs with megaesophagus. Res Vet Sci — PubMed:PMID30543946 | DOI:10.1016/j.rvsc.2018.11.026 — OMIA Phene_Article / Article - 2025. Ist der Megaoesophagus-Test beim Weissen Schweizer Schäferhund (Berger Blanc Suisse) aussagekräftig? [Is the megaesophagus test valid for White Swiss Shepherds (Berger Blanc Suisse)?]. Schweiz Arch Tierheilkd — PubMed:PMID40626856 | DOI:10.17236/sat00460 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606111 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [304]

German Shorthaired Pointer — Coat colour, roan (hereditary; OMIA-verified breed predisposition)

Breed: German Shorthaired Pointer (Dog) [105]

German Shorthaired Pointer — Epidermolysis bullosa, junctionalis (hereditary; OMIA-verified breed predisposition)

Summary: Olivry et al. (1997) describe the existence of a previously unreported form of familial localized non-lethal JEB in German Shorthaired Pointer littermates.. The defective expression of collagen XVII is likely to be caused by mutation(s) of the COL17A1 gene, as previously reported in humans. [305]

Clin feat: Olivry et al. (1997) Acral, auricular and oral erosions and ulcers were observed. Severe ulceration of the footpads was present. [305]

Pathology: Olivry et al. (1997) Skin biopsy specimens of non-lesional and lesional skin of affected dogs were screened for a defect in basement membrane proteins using indirect immunofluorescence and immunoperoxidase testing. Epidermal staining for laminin-5 and integrin α6β4 was similar in affected and normal control dogs. Lack of expression of collagen XVII was uniquely identified in all sections of JEB probands compared with normal control dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1997. Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa. Vet Dermatol — PubMed:PMID34644840 | DOI:10.1046/j.1365-3164.1997.d01-17.x — OMIA Phene_Article / Article - 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review.. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — OMIA Phene_Article / Article - 1997. Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa. Vet Dermatol — PubMed:PMID34644840 | DOI:10.1046/j.1365-3164.1997.d01-17.x — OMIA Phene_Article / Article - 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — OMIA Phene_Article / Article - 1997. Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa. Vet Dermatol — PubMed:PMID34644840 | DOI:10.1046/j.1365-3164.1997.d01-17.x — OMIA Phene_Article / Article - 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — OMIA Phene_Article / Article - 1997. Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa. Vet Dermatol — PubMed:PMID34644840 | DOI:10.1046/j.1365-3164.1997.d01-17.x — OMIA Phene_Article / Article - 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — OMIA Phene_Article / Article - 1997. Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa. Vet Dermatol — PubMed:PMID34644840 | DOI:10.1046/j.1365-3164.1997.d01-17.x — OMIA Phene_Article / Article - 2023. Spontaneous autoimmune subepidermal blistering diseases in animals: a comprehensive review. BMC Vet Res — PubMed:PMID36849885 | DOI:10.1186/s12917-023-03597-1 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [305]

German Shorthaired Pointer — Lethality, BTBD17-related (hereditary; OMIA-verified breed predisposition)

Summary: See also 'OMIA:000901-9615: XX difference of sexual development, generic in Canis lupus familiaris' for the association of the BTBD17 variant with differences in sexual development. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249908 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2017. XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). PLoS One — PubMed:PMID29053721 | DOI:10.1371/journal.pone.0186331 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — OMIA Phene_Article / Article [306]

German Spitz — Oculocutaneous albinism, OCA2-related (hereditary; OMIA-verified breed predisposition)

Breed: German Spitz (Dog) [307]

Clin feat: The three affected German Spitz puppies reported in Caduff et al. (2017) showed a light brown (hazel) coat colour and blue eyes. Pigmentation of the coat and eyes became slightly darker with age. The owner reported that the affected puppies used to squint in bright sunlight (photophobia) and had difficulties to perceive hand signals in bright sunlight. Photophobia and mild to moderate visual deficits are also common in human patients with oculocutaneous albinism type II. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253619 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The OCA2 gene is located in the critical interval on chromosome 3. Whole genome sequencing of one of the affected dogs revealed a splice site variant in the OCA2 gene that co-segregated with the phenotype in the German Spitz family. The variant did not occur in 181 normally pigmented dogs from various breeds. As OCA2 loss of function variants have been shown to cause oculocutaneous albinism in man… Evidence (references) - 2017. OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. PLoS One — PubMed:PMID28973042 | DOI:10.1371/journal.pone.0185944 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article - 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:203200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611409 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [307]

German Spitz — Retinal atrophy, progressive, GUCY2D-related (hereditary; OMIA-verified breed predisposition)

Summary: Bortolini et al. (2023) describe the clinical, preliminary electroretinographic and optical coherence tomography features of a newly identified form of progressive retinal atrophy (PRA) in German Spitzes, and identify the causal gene mutation. [308]

Clin feat: Bortolini et al. (2023): Initial fundus changes were pale papilla and mild vascular attenuation. Oscillatory nystagmus was noted in 14 of 16 clinically affected puppies. Vision was impaired under both scotopic and photopic conditions. Rod- mediated ERGs were unrecordable in all affected dogs tested, reduced cone-mediated responses were present in one animal at 3 months of age and unrecordable in the other affected animals tested. Multiple small retinal bullae were observed in three clinically affected animals.. OCT showed that despite loss of function, retinal structure was initially well-preserved, although a slight retinal thinning developed in older animals with the ventral retina being more severely affected. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388199326 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bortolini et al. (2023): "A mutation was identified in GUCY2D, which segregated with the disease (NM_001003207.1:c.1598_1599insT; p.(Ser534GlufsTer20))." Evidence (references) - 2023. Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D. Vet Ophthalmol — PubMed:PMID36872573 | DOI:10.1111/vop.13079 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article - 2025. GUCY2D-associated retinopathy: A comparative study between humans and German Spitz dogs. Vet Sci — PubMed:PMID41012804 | DOI:10.3390/vetsci12090879 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600179 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601777 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:204000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618555 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [308]

German Wirehaired Pointer — Corneal dystrophy (hereditary; OMIA-verified breed predisposition)

Breed: German Wirehaired Pointer (Dog) [309]

Giant Schnauzer — Cardiomyopathy, dilated, RBM20-related (hereditary; OMIA-verified breed predisposition)

Breed: Giant Schnauzer (Dog) [310]

Clin feat: Harmon et al. (2017): describe the clinical features of DCM in standard schnauzers. Medical records for 15 standard schnauzers diagnosed with DCM were reviewed. The median age at diagnosis of DCM was 1.6 yr, with all dogs developing left-sided congestive heart failure (CHF). The median age of onset of CHF was 1.6 yr, and was significantly shorter in males (1.5 yr) than for females (2.35 yr). The median survival time after diagnosis of CHF was 22 days, and was shorter in males (13 days) than females (62 days). Median lifespan is shorter (3.06 years) in standard schnauzers homozygous for the mutation compared to those heterozygous (15.11 years) or wild-type (15.18 years) (Leach et al., 2022) [310]

Pathology: In the study by Harmon et al. (2017), postmortems performed on 5 SSNZ with DCM revealed moderate to marked cardiomegaly with biventricular dilation in all dogs. Histopathological examination performed on the left ventricle and interventricular septum showed myocyte degeneration in 4 out of 5 SSNZ, and increased interstitial fibrosis and myocyte attenuation in 3 SSNZ. [310]

Prevalence: Leach et al. (2022) genotyped 2136 samples from 14 different dog breeds for the associated RBM20 variant.. approximately 21% of all tested SSNZ [standard schnauzer] samples carried at least one allele of the RBM20 variant, with 93% of those samples testing HET for the gene variant. Only 1.5% of the tested SSNZ samples were HOM for the gene variant.. The RBM20 variant was also identified in GSNZ [giant schnauzer] dogs and was associated with DCM and premature death. The gene variant was not found in any of the 36 samples from breeds other than SSNZ or GSNZ. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252456 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2017. Dilated cardiomyopathy in standard schnauzers: Retrospective study of 15 cases. J Am Anim Hosp Assoc — PubMed:PMID27841675 | DOI:10.5326/JAAHA-MS-6506 — OMIA Phene_Article / Article - 2014. Dilated cardiomyopathy in standard schnauzers with a homozygous 22 bp deletion in RBM20. Proceedings of the 32nd ACVIM Forum, 2014 June 4–7; Nashville, TN, USA. — DOI:https://doi.org/10.1111/jvim.12375 — OMIA Phene_Article / Article - 2022. Prevalence, geographic distribution, and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs. J Vet Cardiol — PubMed:PMID34144877 | DOI:10.1016/j.jvc.2021.05.002 — OMIA Phene_Article / Article - 2022. Screening for dilated cardiomyopathy in dogs. J Vet Cardiol — PubMed:PMID34732313 | DOI:10.1016/j.jvc.2021.09.004 — OMIA Phene_Article / Article - 2003. Proposed guidelines for the diagnosis of canine idiopathic dilated cardiomyopathy. J Vet Cardiol — PubMed:PMID19081360 | DOI:10.1016/S1760-2734(06)70047-9 — OMIA Phene_Article / Article - 2022. Genetic basis of dilated cardiomyopathy in dogs and its potential as a bidirectional model. Animals (Basel) — PubMed:PMID35804579 | DOI:10.3390/ani12131679 — OMIA Phene_Article / Article - 2023. The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract — PubMed:PMID37423841 | DOI:10.1016/j.cvsm.2023.05.016 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613172 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613171 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [310]

Giant Schnauzer — Retinal atrophy, progressive, NECAP1-related (hereditary; OMIA-verified breed predisposition)

Summary: See also [OMIA:003061-9615]: Leukoencephalomyelopathy, NECAP1-related in Canis lupus familiaris (dog) for a different phenotype caused by variants in the same gene. [311]

Prevalence: Hitti et al. (2019): Five thousand one hundred and thirty canids of 175 breeds, 10 cross-breeds and 3 wolves were genotyped for c.544G>A. Only the three PRA-affected GS were homozygous (allele frequency in GS, excluding proband family = 0.015). In addition, we identified heterozygotes belonging to Spitz and Dachshund varieties, demonstrating c.544G>A segregates in other breeds of German origin. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252325 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: "Whole genome sequencing of two PRA-affected full-siblings and both unaffected parents" followed by variant "filtering against 568 canine genomes" enabled Hitti et al. (2019) to identify "a single nucleotide variant in the gene encoding NECAP endocytosis associated 1 (NECAP1): c.544G>A (p.Gly182Arg)" as the likely causal variant of this disorder in "Giant Schnauzer (GS) littermates [that] prese… Evidence (references) - 2019. Whole genome sequencing of Giant Schnauzer dogs with progressive retinal atrophy establishes NECAP1 as a novel candidate gene for retinal degeneration. Genes (Basel) — PubMed:PMID31117272 | DOI:10.3390/genes10050385 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:611623 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615833 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [311]

Giant Schnauzer — Squamous cell carcinoma of the digit (hereditary; OMIA-verified breed predisposition)

Clin feat: As summarised by Karyadi et al. (2013), SCCD is a locally aggressive cancer that causes lytic bone lesions, sometimes with multiple toe recurrence. [312]

Prevalence: As mentioned above, only dark-coloured Standard Poodles are susceptible; light-coloured dogs of the same breed are rarely affected. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: 710-712 (Entrez Gene ID 388199034) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 1983. [Squamous cell carcinoma of the toes in dogs]. Dtsch Tierarztl Wochenschr — PubMed:PMID6354679 — OMIA Phene_Article / Article - 1984. Basal- and squamous-cell neoplasms of dogs and cats. Am J Dermatopathol — PubMed:PMID6731733 | DOI:10.1097/00000372-198404000-00017 — OMIA Phene_Article / Article - 1992. Treatment by digital amputation of subungual squamous cell carcinoma in dogs: 21 cases (1987-1988). J Am Vet Med Assoc — PubMed:PMID1399782 — OMIA Phene_Article / Article - 1995. Evaluation of dogs with digit masses: 117 cases (1981-1991). J Am Vet Med Assoc — PubMed:PMID7657570 — OMIA Phene_Article / Article - 2005. Canine digital tumors: a veterinary cooperative oncology group retrospective study of 64 dogs. J Vet Intern Med — PubMed:PMID16231717 | DOI:10.1892/0891-6640(2005)19[720:cdtavc]2.0.co;2 — OMIA Phene_Article / Article - 2007. Agreement among surgical pathologists evaluating routine histologic sections of digits amputated from cats and dogs. J Vet Diagn Invest — PubMed:PMID17609360 | DOI:10.1177/104063870701900420 — OMIA Phene_Article / Article - 1989. Squamous cell carcinoma of the nail bed in three related giant schnauzers. Vet Rec — PubMed:PMID2800263 | DOI:10.1136/vr.125.12.322 — OMIA Phene_Article / Article - 2008. Tumors of the Skin and Soft Tissues. In:. Tumors in Domestic Animals. Meuten DJ, editor. Ames, Iowa: Iowa State University Press — OMIA Phene_Article / Article - 2013. A Copy Number Variant at the KITLG Locus Likely Confers Risk for Canine Squamous Cell Carcinoma of the Digit. PLoS Genet — PubMed:PMID23555311 | DOI:10.1371/journal.pgen.1003409 — OMIA Phene_Article / Article - 2014. Domestic dogs and cancer research: a breed-based genomics approach. ILAR J — PubMed:PMID24936030 | DOI:10.1093/ilar/ilu017 — OMIA Phene_Article / Article - 2016. Bottlenecks and selective sweeps during domestication have increased deleterious genetic variation in dogs. Proc Natl Acad Sci U S A — PubMed:PMID26699508 | DOI:10.1073/pnas.1512501113 — OMIA Phene_Article / Article - 2023. KITLG copy number germline variations in Schnauzer breeds and their relevance in digital squamous cell carcinoma in black giant Schnauzers. Vet Sci — PubMed:PMID36851451 | DOI:10.3390/vetsci10020147 — OMIA Phene_Article / Article - (2 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:184745 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [312]

Glen of Imaal Terrier — Progressive retinal atrophy; PRA-crd3 (hereditary; OMIA-verified breed predisposition)

Breed: Glen of Imaal Terrier (Dog) [313]

Disorder: Progressive retinal atrophy; PRA-crd3 [313]

Clin feat: Onset of disease has been reported on average at 6 years of age (Kropatsch et al., 2010). Affected dogs develop visual problems (difficulties avoiding obstacles in dim light) and the disease gradually results in total blindness (Goldstein et al., 2010). However, ophthalmoscopical changes can be observed in dogs as young as 3 years of age and can present either as subtle but generalized hyperreflectivity of the tapetal fundus, and retinal vascular attenuation or as a discrete, distinctly hyperreflective lesion, with no accompanying ophthalmoscopic evidence of generalized retinal disease (Goldstein et al., 2010). The electroretinogram (ERG) was normal in a 12-weeks-old affected dog. ERG dysfunction was detected at 15 month of age. As the disease progresses ERG changes become more pronounced. Loss of cone function is more severe compared to loss of rod function (Goldstein et al., 2010). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 23852799 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Fine mapping and subsequent sequencing enabled Kropatsch et al. (2010) to identify the causal mutation as "a deletion of exons 15 and 16 which alters the reading frame leading to a premature stop codon" in the ADAM9 gene. A week later came a report of an independent exhaustive evaluation of candidate genes (both comparative positional and positional) that eventually enabled Goldstein et al. (2010)… Evidence (references) - 2010. An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol Vis — PubMed:PMID20806078 — OMIA Phene_Article / Article - 2010. Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. Mol Cell Probes — PubMed:PMID20691256 | DOI:10.1016/j.mcp.2010.07.007 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:612775 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602713 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [313]

Golden Retriever — CD (hereditary; OMIA-verified breed predisposition)

Breed: Golden Retriever (Dog) [314]

Disorder: CD [314]

Summary: As reported by Davidson et al. (2004), The CD phenotype was determined by videofluoroscopy, and dogs were classified as affected if the upper esophageal sphincter (UES) did not open, if there were morphologic abnormalities of the UES, or if opening of the UES was delayed for or = 6 videofluoroscopic frames (0.2 seconds) after closure of the epiglottis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2004. Inheritance of cricopharyngeal dysfunction in Golden Retrievers.. Am J Vet Res — PubMed:PMID15027684 — OMIA Phene_Article / Article - 2025. Surgical management of cricopharyngeal achalasia in Spaniels results in favorable outcomes, with persistence or recurrence of mild signs documented in some dogs.. J Am Vet Med Assoc — PubMed:PMID41043475 | DOI:10.2460/javma.25.06.0415 — OMIA Phene_Article / Article - 2004. Inheritance of cricopharyngeal dysfunction in Golden Retrievers. Am J Vet Res — PubMed:PMID15027684 — OMIA Phene_Article / Article - 2025. Surgical management of cricopharyngeal achalasia in Spaniels results in favorable outcomes, with persistence or recurrence of mild signs documented in some dogs. J Am Vet Med Assoc — PubMed:PMID41043475 | DOI:10.2460/javma.25.06.0415 — OMIA Phene_Article / Article - 2004. Inheritance of cricopharyngeal dysfunction in Golden Retrievers. Am J Vet Res — PubMed:PMID15027684 — OMIA Phene_Article / Article - 2025. Surgical management of cricopharyngeal achalasia in Spaniels results in favorable outcomes, with persistence or recurrence of mild signs documented in some dogs. J Am Vet Med Assoc — PubMed:PMID41043475 | DOI:10.2460/javma.25.06.0415 — OMIA Phene_Article / Article - 2004. Inheritance of cricopharyngeal dysfunction in Golden Retrievers. Am J Vet Res — PubMed:PMID15027684 — OMIA Phene_Article / Article - 2025. Surgical management of cricopharyngeal achalasia in Spaniels results in favorable outcomes, with persistence or recurrence of mild signs documented in some dogs. J Am Vet Med Assoc — PubMed:PMID41043475 | DOI:10.2460/javma.25.06.0415 — OMIA Phene_Article / Article - 2004. Inheritance of cricopharyngeal dysfunction in Golden Retrievers. Am J Vet Res — PubMed:PMID15027684 — OMIA Phene_Article / Article - 2025. Surgical management of cricopharyngeal achalasia in Spaniels results in favorable outcomes, with persistence or recurrence of mild signs documented in some dogs. J Am Vet Med Assoc — PubMed:PMID41043475 | DOI:10.2460/javma.25.06.0415 — OMIA Phene_Article / Article [314]

Golden Retriever — Congenital eye malformation; microphthalmos (hereditary; OMIA-verified breed predisposition)

Disorder: Congenital eye malformation; microphthalmos [315]

Mode of inheritance: Autosomal dominant with incomplete penetrance [315]

Prevalence: Hug et al. (2019): All three available cases were heterozygous. Five additional close relatives including the common sire were also heterozygous, but did not show any obvious eye phenotypes. The variant was absent from the 464 unrelated Golden Retrievers and 17 non-affected siblings of the cases. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388255052 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By comparing the genome sequence of one affected Golden Retriever with the sequence of 601 control genomes, Hug et al. (2019) identified a "heterozygous private nonsense variant, c.487C>T . . . in the SIX6 gene. This variant is predicted to truncate about a third of the open reading frame, p.(Gln163*) . . . We hypothesize that the residual amount of functional SIX6 protein likely to be expresse… Evidence (references) - 2019. A SIX6 nonsense variant in Golden Retrievers with congenital eye malformations. Genes (Basel) — PubMed:PMID31207931 | DOI:10.3390/genes10060454 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article - 2026. Genetic link across species: SIX6, a major human glaucoma gene, confers susceptibility to glaucoma in Shiba-Inu dogs. Invest Ophthalmol Vis Sci — PubMed:PMID41533905 | DOI:10.1167/iovs.67.1.5 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:212550 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606326 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [315]

Golden Retriever — Congenital myasthenic syndromes (hereditary; OMIA-verified breed predisposition)

Disorder: Congenital myasthenic syndromes [316]

Clin feat: Affected puppies present with a history of generalised skeletal muscle weakness and fatigue with an onset in the first weeks to months of life (Mignan et al., 2020). As reported by Rinz et al. (2014): Neurological examination was consistent with a generalized neuromuscular disease with marked short-strided tetraparesis that worsened with exercise. Postural reactions were preserved with the exception of hopping which was diminished in all limbs when the puppies were made to bear full weight. Spinal reflexes including the patellar, cranial tibial, and flexor withdrawals were reduced in all limbs. A pyridostigmine bromide challenge resulted in worsening of muscle weakness. Clinical signs often progress despite treatment, and most reported cases have resulted in death or euthanasia of affected puppies (Mignan et al., 2020). [316]

Pathology: As a result of the COLQ mutation, acetylcholinesterase is anchored to the basal lamina of the neuromuscular junction (NMJ). Measurement of the compound muscle action potential through electrodiagnostic testing after repetitive nerve stimulation shows a decremental response, which is consistent with failure of neuromuscular transmission (Tsai et al., 2020). A NMJ antibody testing for acetylcholinesterase is negative (Mignan et al., 2020). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: COLQ (Entrez Gene ID 388304030) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 2014. A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome. PLoS One — PubMed:PMID25166616 | DOI:10.1371/journal.pone.0106425 — OMIA Phene_Article / Article - 2020. Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. J Vet Intern Med — PubMed:PMID31769119 | DOI:10.1111/jvim.15667 — OMIA Phene_Article / Article - 2020. Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats. J Vet Intern Med — PubMed:PMID32668077 | DOI:10.1111/jvim.15855 — OMIA Phene_Article / Article - 2016. Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review. Neuromuscul Disord — PubMed:PMID27080328 | DOI:10.1016/j.nmd.2016.03.002 — OMIA Phene_Article / Article - 2018. Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms. Ann N Y Acad Sci — PubMed:PMID29405353 | DOI:10.1111/nyas.13595 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:603034 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603033 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [316]

Golden Retriever — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)

Prevalence: Kolicheski et al. (2017): To estimate the frequency of the 3-bp HEXB deletion among the Shiba Inu, all 40 Shiba Inu represented in the University of Missouri DNA repository were genotyped by PCR-RFLP for this deletion. Thirty-seven of the tested Shiba Inu were homozygous for the reference allele; the other 3 were heterozygotes. These heterozygotes were born in 2002, 2004, and 2007. There are no known familial relationships among them or between them and the 2 affected Shiba Inu described here. This observation suggests that the 3-bp HEXB deletion may be rare but widely distributed in the Shiba Inu breed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 296413295 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2002. Sandhoff disease in a golden retriever dog. J Inherit Metab Dis — PubMed:PMID12227463 | DOI:10.1023/a:1016562626961 — OMIA Phene_Article / Article - 2005. Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever. Can Vet J — PubMed:PMID15884653 — OMIA Phene_Article / Article - 2010. GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. J Vet Intern Med — PubMed:PMID20695991 | DOI:10.1111/j.1939-1676.2010.0564.x — OMIA Phene_Article / Article - 1987. Partial deficiency of beta-hexosaminidase activity in canine GM2-gangliosidosis. Tohoku J Exp Med — PubMed:PMID2958961 | DOI:10.1620/tjem.152.333 — OMIA Phene_Article / Article - 2012. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Vet J — PubMed:PMID22766310 | DOI:10.1016/j.tvjl.2012.05.021 — OMIA Phene_Article / Article - 2013. Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan. J Vet Med Sci — PubMed:PMID24161966 | DOI:10.1292/jvms.13-0443 — OMIA Phene_Article / Article - 2015. GM2 gangliosidosis variant 0 (Sandhoff Disease) in a mixed-breed dog. J Am Anim Hosp Assoc — PubMed:PMID26535459 | DOI:10.5326/JAAHA-MS-6258 — OMIA Phene_Article / Article - 2016. In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res — PubMed:PMID27036194 | DOI:10.1186/s12917-016-0691-y — OMIA Phene_Article / Article - 2016. Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet — PubMed:PMID27499644 | DOI:10.2147/TACG.S85354 — OMIA Phene_Article / Article - 2017. GM2 gangliosidosis in Shiba Inu dogs with an in-frame deletion in HEXB. J Vet Intern Med — PubMed:PMID28833537 | DOI:10.1111/jvim.14794 — OMIA Phene_Article / Article - 2018. Canine GM2-gangliosidosis Sandhoff disease associated with a 3-base pair deletion in the HEXB gene. J Vet Intern Med — PubMed:PMID29106755 | DOI:10.1111/jvim.14862 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:268800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606873 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [317]

Golden Retriever — Golden Retriever PRA 2, Golden Retriever progressive retinal atrophy 2 (hereditary; OMIA-verified breed predisposition)

Disorder: Golden Retriever PRA 2, Golden Retriever progressive retinal atrophy 2 [318]

Clin feat: Progressive retinal atrophy results in bilateral degeneration of the retina. Affected dogs typically present with bilateral and progressive loss of vision and will eventually be completely blind. Clinical signs of PRA 2 typically begin to manifest at an average age of 5 years. Clinical examination in affected animals will show a hyper-reflective tapetum and retinal vessel attenuation. In later stages of the disease, dogs will show changes in pigment, pale optic discs and optic nerve atrophy (Downs et al., 2011). Mäkeläinen et al. (2020): The progression of PRA for two of the dogs was followed for 2 years.. In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388247952 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Downs et al. (2014) reported that "a single nucleotide deletion was identified in exon 8 of the TTC8 gene of affected Golden Retrievers. The frame shift mutation was predicted to cause a premature termination codon. In a larger cohort, this mutation, TTC8c.669delA, segregates correctly in 22 out of 29 cases tested (75.9%)." The authors concluded that "PRA is genetically heterogeneous in ... the Go… Evidence (references) - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2014. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol — PubMed:PMID26401321 | DOI:10.1186/2052-6687-1-4 — OMIA Phene_Article / Article - 2016. FAM161A and TTC8 are differentially expressed in non-allelelic early onset retinal degeneration. Adv Exp Med Biol — PubMed:PMID26427412 | DOI:10.1007/978-3-319-17121-0_27 — OMIA Phene_Article / Article - 2020. Deletion in the Bardet-Biedl syndrome gene TTC8 results in a syndromic retinal degeneration in dogs. Genes (Basel) — PubMed:PMID32962042 | DOI:10.3390/genes11091090 — OMIA Phene_Article / Article - 2022. Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil. Front Vet Sci — PubMed:PMID36325094 | DOI:10.3389/fvets.2022.973854 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613464 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615985 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608132 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [318]

Golden Retriever — Golden Retriever ichthyosis type 2 (hereditary; OMIA-verified breed predisposition)

Disorder: Golden Retriever ichthyosis type 2 [319]

Summary: Kiener et al. (2022) investigated 14 Golden Retrievers with scales that were not homozygous for the mutant PNPLA1 allele suggesting a genetically distinct new form of ichthyosis. [319]

Clin feat: Kiener et al. (2022) affected dogs had large white to grey and powdery to adherent scale throughout the hair coat. The abdominal skin was mildly hyperpigmented. Thick white scale was adherent to the concave surface of the pinnae. According to anecdotal reports from breeders, the scaling in ICH2-affected Golden Retrievers may be more severe and adherent than in Golden Retrievers with the PNPLA1-related from of ichthyosis (Kiener et al. 2022). [319]

Golden Retriever — Hereditary spectrin deficiency (hereditary; OMIA-verified breed predisposition)

Disorder: Hereditary spectrin deficiency [320]

Summary: Slappendel et al. (2005) were the first to describe hereditary spectrin deficiency in dogs: A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5 adult Golden Retriever dogs, which had recovered from hemolytic anemia but whose OF [osmotic fragility] had persistently remained increased. OF also was increased and spectrin concentration was decreased (60-73%) in 10 dogs of an apparently healthy family of 19 Golden Retrievers related to a proband. Pedigree analysis revealed autosomal dominant inheritance.. It is not clear whether spectrin deficiency in Golden Retrievers may result in hemolytic anemia, as in humans. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2005. Hereditary spectrin deficiency in Golden Retriever dogs.. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article - 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog.. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article - 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia.. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — OMIA Phene_Article / Article - 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article - 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article - 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — OMIA Phene_Article / Article - 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article - 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article - 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — OMIA Phene_Article / Article - 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article - 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article - 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — OMIA Phene_Article / Article - 2005. Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med — PubMed:PMID15822562 — OMIA Phene_Article / Article - 2022. Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest — PubMed:PMID36184929 | DOI:10.1177/10406387221127268 — OMIA Phene_Article / Article - 2023. Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol — PubMed:PMID37272477 | DOI:10.1111/vcp.13235 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612653 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612653 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612653 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612653 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109270 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:182900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612653 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [320]

Golden Retriever — Hip Dysplasia (hereditary; OMIA-verified breed predisposition)

Estimates of prevalence of hip dysplasia in Golden Retrievers and Rottweilers and the influence of bias on published prevalence figures. [298]

Genetic correlations of hip dysplasia scores for Golden retrievers and Labrador retrievers in France, Sweden and the UK. [298]

Breeding Values and Genetic Trend for Hip Dysplasia in the Norwegian Golden Retriever Population [298]

Analysis of the hip status of Golden Retrievers in Brazil-A study of health and genetic improvement. [298]

Neutering dogs: effects on joint disorders and cancers in golden retrievers. [298]

Golden Retriever — Osteogenesis imperfecta, type III, COL1A1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Campbell et al. (2000): a 12-week-old male golden retriever puppy of small stature. had multiple fractures in various stages of healing affecting the ribs and nearly every long bone. Dentinogenesis imperfecta was also present. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388199150 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Campbell et al. (2000) showed that the disorder in a Golden Retriever was due to "a G to C point mutation for nucleotide 1,276 [of the COL1A1 gene], predicting a codon change from glycine (GGA) to alanine (GCA) for amino acid 208. This change disrupts the normal Gly-X-Y pattern of the colla… Evidence (references) - 1997. Clinical signs and diagnosis of osteogenesis imperfecta in three dogs. J Am Vet Med Assoc — PubMed:PMID9227748 — OMIA Phene_Article / Article - 2000. Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha 1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta. Arch Biochem Biophys — PubMed:PMID11147834 | DOI:10.1006/abbi.2000.2099 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:259420 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120150 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [321]

Golden Retriever — This entry was previously called Ichthyosis, Golden Retriever (hereditary; OMIA-verified breed predisposition)

Disorder: This entry was previously called Ichthyosis, Golden Retriever [322]

Summary: At the time when the causal mutation for this disorder was discovered to be in the PNPLA1 gene in Golden Retrievers, this gene had not been implicated in any human cases of the same disorder nor in any other diseases. Having made the canine discovery, Grall et al. (2012) then sequenced the PNPLA1 gene in human families with affected individuals, and discovered one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. This is an original way to discover clinically-important human mutations: to start by identifying what appear to be homologous disorders in spontaneous animal models, to identify the causal mutation in the animal model, and then use such knowledge to inform human medicine and also benefit veterinary medicine. (Thanks to Catherine André and Judith Fischer for their suggestions to FN in relation to this and other sections of this page; 27 January 2012) [322]

Gen test: A genetic test for omia.variant:616 has been licenced to [Antagene, Lyon, France]. The genetic test for omia.variant:1775 is not protected by a patent. It is offered under the test designation ichthyosis 3 (Ich3) by the [VGL of UC Davis]. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 180373481 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The Golden Retriever causal mutation was reported by Grall et al. (2012) to be an "insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs". Using the genetic variant nomeclature as of 2015, the causative variant can be described as c.1445_1447delinsTACTACTA or p.N482Ifs*11 (omia.variant:616).Rietmann et al. (2025) conducted whol… Evidence (references) - 2009. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract — PubMed:PMID19413748 | DOI:10.1111/j.1748-5827.2009.00730.x — OMIA Phene_Article / Article - 2012. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet — PubMed:PMID22246504 | DOI:10.1038/ng.1056 — OMIA Phene_Article / Article - 2007. Epidemiological, clinical, histopathological and ultrastructural aspects of ichthyosis in golden retrievers: a report of 50 cases. Veterinary Dermatology — OMIA Phene_Article / Article - 2008. The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever. Vet Pathol — PubMed:PMID18424829 | DOI:10.1354/vp.45-2-174 — OMIA Phene_Article / Article - 2008. Cornification defect in the golden retriever: clinical, histopathological, ultrastructural and genetic characterisation. Vet Dermatol — PubMed:PMID18477327 | DOI:10.1111/j.1365-3164.2008.00667.x — OMIA Phene_Article / Article - 2011. [Frequency of gene defects in selected European retriever populations]. Schweiz Arch Tierheilkd — PubMed:PMID21866517 | DOI:10.1024/0036-7281/a000236 — OMIA Phene_Article / Article - 2015. Is "milk crust" a transient form of golden retriever ichthyosis?. Vet Dermatol — PubMed:PMID26178606 | DOI:10.1111/vde.12216 — OMIA Phene_Article / Article - 2016. Rare phenotypes in domestic animals: unique resources for multiple applications. Anim Genet — PubMed:PMID26662214 | DOI:10.1111/age.12393 — OMIA Phene_Article / Article - 2004. Diagnostic dermatology. Can Vet J — PubMed:PMID15532893 — OMIA Phene_Article / Article - 2016. Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. Vet Dermatol — PubMed:PMID27237723 | DOI:10.1111/vde.12323 — OMIA Phene_Article / Article - 2021. Description of breed ancestry and genetic health traits in arctic sled dog breeds. Canine Med Genet — PubMed:PMID34544496 | DOI:10.1186/s40575-021-00108-z — OMIA Phene_Article / Article - 2021. Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol — PubMed:PMID34796560 | DOI:10.1111/vde.13033 — OMIA Phene_Article / Article - (6 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:612121 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615024 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [322]

Golden Retriever — congenital hypomyelinating polyneuropathy; HPN (hereditary; OMIA-verified breed predisposition)

Disorder: congenital hypomyelinating polyneuropathy; HPN [323]

Summary: Cook et al. (2023): “Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates [see [OMIA:001292-9615]: Polyneuropathy, generic in Canis lupus familiaris]. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388302814 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Cook et al. (2023): “Whole-genome sequencing was performed on all four [affected Golden Retriever] …, and variants from each dog were compared to variants found across >1,000 other dogs, all presumably unaffected with HPN. Likely causative variants were identified for each HPN-affected GR.” The authors identified 3 likely causal variants in functional candidate genes MTMR2, MPZ and SH3TC2. “Cas… Evidence (references) - 2023. Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy. Neuromuscul Disord — PubMed:PMID37400349 | DOI:10.1016/j.nmd.2023.06.007 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:603557 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601382 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [323]

Golden Retriever — congenital hypomyelinating polyneuropathy; HPN (hereditary; OMIA-verified breed predisposition)

Mode of inheritance: Probably autosomal dominant [324]

Goldendoodle — Congenital idiopathic megaesophagus (hereditary; OMIA-verified breed predisposition)

Breed: Goldendoodle (Dog) [222]

Gordon Setter — Canine hereditary ataxia (hereditary; OMIA-verified breed predisposition)

Breed: Gordon Setter (Dog) [325]

Disorder: Canine hereditary ataxia [325]

Clin feat: The clinical phenotype is identical in both breeds [Old English Sheepdogs and Gordon Setters] with an onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI) (Agler et al. 2014) Schwarz et al. (2025) reported two affected mixed breed dogs with clinical signs of progressive cerebellar ataxia, hypermetria, and absent menace response. The MRI revealed generalized brain atrophy, reduced cortical demarcation, hypoplastic corpus callosum, and cerebellar folia thinning.. [325]

Pathology: As reported by Agler et al. (2014), Histopathology, immunohistochemistry and ultrastructural evaluation of the brains of affected dogs from both breeds [Old English Sheepdogs and Gordon Setters] identified dramatic Purkinje neuron loss with axonal spheroids, accumulation of autophagosomes, ubiquitin positive inclusions and a diffuse increase in cytoplasmic neuronal ubiquitin staining. [325]

Prevalence: Agler et al. (2014) reported an allele frequency for omia.variant:88 of 14.3% in a sample of 630 Old English Sheepdogs and 22.2% in a sample of 90 Gordon Setters. None of 194 dogs from 43 other breeds had the mutant allele. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388247079 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Sanger sequencing of the six candidate variants (see Mapping section above) in additional cases and controls revealed the most likely causal mutation to be an "RAB24 SNP polymorphism [which] was an A to C transversion located at position 113 [c.113A>C, omia.variant:88] in the first of its eight exons . . . [which] produced an amino acid change from glutamine (Q) to proline (P) at posit… Evidence (references) - 1980. Hereditary cerebellar cortical abiotrophy in the Gordon Setter. J Am Vet Med Assoc — PubMed:PMID7440348 — OMIA Phene_Article / Article - 1981. Clinical features of inherited cerebellar degeneration in Gordon Setters. J Am Vet Med Assoc — PubMed:PMID7341602 — OMIA Phene_Article / Article - 2000. Cerebellar degeneration in Old English Sheepdogs. J Am Vet Med Assoc — PubMed:PMID11043686 | DOI:10.2460/javma.2000.217.1162 — OMIA Phene_Article / Article - 2014. Canine hereditary ataxia in Old English Sheepdogs and Gordon Setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet — PubMed:PMID24516392 | DOI:10.1371/journal.pgen.1003991 — OMIA Phene_Article / Article - 1984. Synaptic neurochemical alterations associated with neuronal degeneration in an inherited cerebellar ataxia of Gordon Setters. J Neuropathol Exp Neurol — PubMed:PMID6502189 | DOI:10.1097/00005072-198411000-00003 — OMIA Phene_Article / Article - 1985. Canine inherited ataxia: ultrastructural observations. J Neuropathol Exp Neurol — PubMed:PMID3973637 | DOI:10.1097/00005072-198503000-00005 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article - 2025. RAB24 missense variant in dogs with cerebellar ataxia. Genes (Basel) — PubMed:PMID40869982 | DOI:10.3390/genes16080934 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:612415 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [325]

Gordon Setter — Neurological syndrome (hereditary; OMIA-verified breed predisposition)

Clin feat: Yaeger et al. (2000) summarised the diagnostic criteria as: a) early age of onset (3–4 weeks of age), b) characteristic clinical signs (pups exhibit crooked necks and carry heads low, stiffened posture, and staggering gait; appear blind; begin to cry, often incessantly; lose muscle tone and the ability to stand), c) progression to recumbency by 5–6 weeks of age, d) multiple pups generally affected in each litter, e) identification of swollen astrocytes primarily in the cerebellar and cerebrocortical white matter and white matter tracts of the brainstem, f) identification of increased numbers of GFAP-stained astrocyte cytoplasmic processes (this lesion is most readily visualized in the cortical white matter and granular layer of the cerebellum), and g) exclusion of other disease processes. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2000. An autosomal recessive, lethal, neurologic disease of Gordon Setter puppies.. J Vet Diagn Invest — PubMed:PMID11108461 | DOI:10.1177/104063870001200615 — OMIA Phene_Article / Article - 2000. An autosomal recessive, lethal, neurologic disease of Gordon Setter puppies. J Vet Diagn Invest — PubMed:PMID11108461 | DOI:10.1177/104063870001200615 — OMIA Phene_Article / Article - 2000. An autosomal recessive, lethal, neurologic disease of Gordon Setter puppies. J Vet Diagn Invest — PubMed:PMID11108461 | DOI:10.1177/104063870001200615 — OMIA Phene_Article / Article - 2000. An autosomal recessive, lethal, neurologic disease of Gordon Setter puppies. J Vet Diagn Invest — PubMed:PMID11108461 | DOI:10.1177/104063870001200615 — OMIA Phene_Article / Article - 2000. An autosomal recessive, lethal, neurologic disease of Gordon Setter puppies. J Vet Diagn Invest — PubMed:PMID11108461 | DOI:10.1177/104063870001200615 — OMIA Phene_Article / Article [326]

Gordon Setter — progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)

Disorder: progressive retinal atrophy [327]

Gen test: A DNA test for this disorder is provided by the UK Animal Health Trust. Details are available at: http://www.aht.org.uk/genetics_prarcd4.html Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 287044800 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Downs et al. (2013) reported the causal mutation of this type of progressive retinal atrophy in Gordon Setter and Irish Setters as being a frameshift mutation (c.3149_3150insC) in the gene C2orf71 (now called C17H2orf71 or photoreceptor cilium actin regulator, PCARE). However, this mutation does not account for all cases, indicating that there are more causal mutations yet to be discovered. Downs … Evidence (references) - 2011. Inherited disease: new DNA test to help detect PRA mutation in Gordon setters. Vet Rec — PubMed:PMID21493523 | DOI:10.1136/vr.d1014 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2013. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet — PubMed:PMID22686255 | DOI:10.1111/j.1365-2052.2012.02379.x — OMIA Phene_Article / Article - 2016. Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. Vet Ophthalmol — PubMed:PMID26009980 | DOI:10.1111/vop.12284 — OMIA Phene_Article / Article - 2014. Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol — PubMed:PMID24255994 | DOI:10.1111/vop.12122 — OMIA Phene_Article / Article - 2018. Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Anim Genet — PubMed:PMID29624701 | DOI:10.1111/age.12659 — OMIA Phene_Article / Article - 2019. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One — PubMed:PMID30650096 | DOI:10.1371/journal.pone.0209864 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613428 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613425 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [327]

Grand Basset Griffon Vendeen — Muscular dystrophy (hereditary; OMIA-verified breed predisposition)

Breed: Grand Basset Griffon Vendeen (Dog) [195]

Great Dane — Central core myopathy (hereditary; OMIA-verified breed predisposition)

Breed: Great Dane (Dog) [328]

Summary: see also [OMIA:001660-9615]: Centronuclear myopathy 2, BIN1-related in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1994. Central core myopathy in a Great Dane.. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Central core myopathy in a Great Dane. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Central core myopathy in a Great Dane. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Central core myopathy in a Great Dane. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Central core myopathy in a Great Dane. Journal of Small Animal Practice — OMIA Phene_Article / Article [328]

Great Dane — Ichthyosis, SLC27A4-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Clinical examination revealed signs of a generalized severe hyperkeratosis in all cases with a formation of a strongly wrinkled, thickened and scaling skin especially in the region of the eyes and nose. These changes led to a dry inelastic and lichenified skin of an untidy appearance in the affected dogs and a markedly swollen periocular skin which impeded the opening of the puppy’s eyes in some cases. In-between the wrinkles the exudative character of the skin promoted secondary infections. Due to the poor prognosis, all affected dogs were euthanized at the age of 7–40 days. Additional computer tomographic and endoscopic examinations after euthanasia in two five week old affected dogs revealed a ventrally displaced auditory canal with an atypically wrinkled shape but no signs of other anomalies (Metzger et al. 2015). [329]

Pathology: Affected Great Dane puppies had epidermal and follicular orthokeratotic hyperkeratosis, enlarged keratohyaline granules, vacuolated keratinocytes, and accumulations of an eosinophilic and alcianophilic, lipid-rich material within dilated hair follicular lumina and the cytoplasm of sebocytes. The macroscopic, histopathologic, and ultrastructural skin changes indicated a new variant of a primary disorder of cornification with congenital, non-epidermolytic, lamellar ichthyosiform appearance (Hoffmann et al. 2016) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388255492 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Metzger et al. (2015) identified a single nucleotide sustitution in exon 8, c.1250G>A, as the most likely causative variant. This variant alters the encoded amino acid seqeunce (p.Arg417Gln). However, the variant predominantly leads to aberrant splicing as it generates a cryptic splice acceptor site within exon 8. Metzger et al. (2015) identified a transcript lacking 54 nucleotides from the beg… Evidence (references) - 2015. A novel SLC27A4 splice acceptor site mutation in Great Danes with ichthyosis. PLoS One — PubMed:PMID26506231 | DOI:10.1371/journal.pone.0141514 — OMIA Phene_Article / Article - 2016. Congenital ichthyosis in 14 Great Dane puppies with a new presentation. Vet Pathol — PubMed:PMID26242581 | DOI:10.1177/0300985815595516 — OMIA Phene_Article / Article - 2021. Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol — PubMed:PMID34796560 | DOI:10.1111/vde.13033 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608649 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604194 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [329]

Great Dane — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Letko et al. (2020): key feature across breeds being breathing difficulty, often described as noisy or raspy breathing.. Additional clinical signs, which were noted variably among the dogs, included difficulty swallowing, changes in barking frequency and quality, high-stepping and uncoordinated gait, stumbling and tripping, exercise intolerance, and limb muscle atrophy. [330]

Pathology: Letko et al. (2020): Peroneal nerve biopsies were evaluated. Compared to control nerve, pathological changes were similar among affected dogs of all three breeds and included a subjective decrease in the number of myelinated nerve fibers compared to control nerve. with scattered inappropriately thin myelin sheaths for the axon diameter. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388255222 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Letko et al. (2020): "Using across-breed genome-wide association, haplotype analysis, and whole-genome sequencing, we identified a missense variant in the CNTNAP1 gene (c.2810G>A; p.Gly937Glu) in which homozygotes in both studied breeds are affected. ... Homozygosity for the missense variant in the CNTNAP1 gene is significantly associated with the development of LPPN in large and giant-sized do… Evidence (references) - 2011. Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J — PubMed:PMID20638305 | DOI:10.1016/j.tvjl.2010.06.003 — OMIA Phene_Article / Article - 2020. A CNTNAP1 missense variant is associated with canine laryngeal paralysis and polyneuropathy. Genes (Basel) — PubMed:PMID33261176 | DOI:10.3390/genes11121426 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article - 2025. A CNTNAP1 missense variant associated with laryngeal paralysis and polyneuropathy in young Great Dane dogs. J Vet Intern Med — PubMed:PMID40622077 | DOI:10.1111/jvim.70185 — OMIA Phene_Article / Article - 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:618186 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602346 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [330]

Great Pyrenees — Ataxia, spastic, SACS-related (hereditary; OMIA-verified breed predisposition)

Breed: Great Pyrenees (Dog) [331]

Clin feat: Ekenstedt et al. (2023) report disease in Great Pyrenees dogs characterised by central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. Onset of clinical signs occurred in puppies as young as 4 months of age, with slow progression over several years. [331]

Pathology: Ekenstedt et al. (2023): Histopathology revealed consistent cerebellar Purkinje cell degeneration, neuronal degeneration in brainstem nuclei, widespread spinal cord white matter degeneration, ganglion cell degeneration, inappropriately thin myelin sheaths or fully demyelinated peripheral nerve fibers, and normal or only mild patterns of denervation atrophy in skeletal muscles. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388245606 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Ekenstedt et al. (2023): "Sanger sequencing of the [positional and functional candidate gene] SACS in affected [Great Pyrenees] dogs identified a 4 bp deletion that causes a frame shift and truncates 343 amino acids from the C terminus of the encoded sacsin protein (p.Val4244AlafsTer32)." Evidence (references) - 2023. A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration. Hum Genet — PubMed:PMID37758910 | DOI:10.1007/s00439-023-02599-1 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:270550 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604490 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [331]

Great Pyrenees — Chondrodysplasia, generic (hereditary; OMIA-verified breed predisposition)

Summary: Information previously listed here relating to chondrodysplasia related to FGF4 retrogenes has been moved to '[OMIA:002542-9615]: Chondrodysplasia, FGF4 retrogene-related in Canis lupus familiaris' [22/03/2022] Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Causal variant(s) - Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: allele eJ; nt change c.[124G>A;125_130del6]; pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article - 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds.. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article - 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article - 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article - 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article - 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article - 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article - 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article - 1994. Chondrodysplasia in five Great Pyrenees. Journal of the American Veterinary Medical Association — PubMed:PMID7829378 — OMIA Phene_Article / Article - 2022. Breed-typical front limb angular deformity is associated with clinical findings in three chondrodysplastic dog breeds. Front Vet Sci — PubMed:PMID36733429 | DOI:10.3389/fvets.2022.1099903 — OMIA Phene_Article / Article [332]

Greater Swiss Mountain Dog — ADP response impaired; Postoperative haemorrhage/ hemorrhage, Greater Swiss Mountain dog postoperative haemorrhage (hereditary; OMIA-verified breed predisposition)

Breed: Greater Swiss Mountain Dog (Dog) [333]

Disorder: ADP response impaired; Postoperative haemorrhage/ hemorrhage, Greater Swiss Mountain dog postoperative haemorrhage [333]

Clin feat: Flores et al. (2017) report that affected dogs have prolonged buccal mucosal bleeding time, tachycardia, pallor, decreased PCV and peritoneal effusion postoperatively. Boudreaux and Martin (2011) suggest that spontaneous haemorrhage is absent to mild in affected dogs but that excessive (and potentially fatal) bleeding can occur after surgical procedures or trauma. Diagnostic tests such as platelet counts, coagulation screening assays (PT & APTT) and von Willebrand factor antigen activity tests have returned as normal in the reported cases (Boudreaux and Martin, 2011). However, flow cytometric studies have shown that affected dogs’ platelets have a markedly reduced response to ADP (Flores et al., 2017). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: P2Y12 (Entrez Gene ID 442958) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Boudreaux and Martin and (2011) reported the causal mutation as being "a 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12, an ADP receptor protein located on platelet membranes". Flores et al. (2017) report a single Greater Swiss Mountain dog that was heterozygous for the P2Y12 receptor gene mutation that d… Evidence (references) - 2011. P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol — PubMed:PMID21554368 | DOI:10.1111/j.1939-165X.2011.00318.x — OMIA Phene_Article / Article - 2017. Heterozygosity for P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog. Vet Clin Pathol — PubMed:PMID28800150 | DOI:10.1111/vcp.12533 — OMIA Phene_Article / Article - 2023. Prophylactic use of a lyophilized platelet product for rhinoscopic diagnosis and treatment of sinonasal aspergillosis in a dog with a P2Y12 platelet receptor mutation. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID36815741 | DOI:10.1111/vec.13284 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. Clinical assessment of primary hemostasis: A review. Top Companion Anim Med — PubMed:PMID37673175 | DOI:10.1016/j.tcam.2023.100818 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:609821 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600515 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [333]

Greyhound — Amelogenesis imperfecta, ENAM-related (hereditary; OMIA-verified breed predisposition)

Breed: Greyhound (Dog) [334]

Summary: Also known as Enamel hypoplasia. [334]

Clin feat: For Italian Greyhounds, the clinical signs as reported by Gandolfi et al. (2013) are A brownish mottling and roughening of teeth is apparent in areas where enamel is thin or absent.... Affected permanent teeth are often small and pointed compared with normal teeth.... Greater than normal gaps between teeth are often noticeable in young dogs and become more apparent with age due to premature enamel wear. [334]

Prevalence: Hytönen et al. (2019) reported a carrier frequency of 9% for the c.716CT ENAM variant in Parson Russell Terriers. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249183 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2009. Enamel defects in Standard Poodle dogs in Sweden. Journal of Veterinary Dentistry — OMIA Phene_Article / Article - 2013. Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds. Anim Genet — PubMed:PMID23638899 | DOI:10.1111/age.12043 — OMIA Phene_Article / Article - 2017. An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol — PubMed:PMID29201383 | DOI:10.1186/s40575-017-0049-1 — OMIA Phene_Article / Article - 2018. Letter to the editor regarding an autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol — PubMed:PMID29744112 | DOI:10.1186/s40575-018-0059-7 — OMIA Phene_Article / Article - 2019. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet — PubMed:PMID30877375 | DOI:10.1007/s00439-019-01997-8 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:204650 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606585 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [334]

Greyhound — Drug metabolism, altered (hereditary; OMIA-verified breed predisposition)

Summary: Martinez et al. (2024): Greyhounds metabolize cytochrome P450 (CYP) 2B11 substrates more slowly than other dog breeds. [335]

Defect: unknown Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298941 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 398298942 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - Gene: Entrez Gene ID 398299028 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Martinez et al. (2020) investigatd suspected CYP2B11 deficiency in Greyhounds: "Greyhound livers metabolized CYP2B11 substrates slower, possessed lower CYP2B11 protein abundance, but had similar or higher mRNA expression than other breeds. Gene resequencing identified three CYP2B11 haplotypes, H1 (reference), H2, and H3 that were differentiated by mutations in the gene 3'-untranslated region (3'-U… Evidence (references) - 2024. Pharmacogenomics of poor drug metabolism in greyhounds: Canine P450 oxidoreductase genetic variation, breed heterogeneity, and functional characterization. PLoS One — PubMed:PMID38300925 | DOI:10.1371/journal.pone.0297191 — OMIA Phene_Article / Article - 2020. Pharmacogenomics of poor drug metabolism in Greyhounds: Cytochrome P450 (CYP) 2B11 genetic variation, breed distribution, and functional characterization. Sci Rep — PubMed:PMID31919457 | DOI:10.1038/s41598-019-56660-z — OMIA Phene_Article / Article - 2019. Absolute quantitation of drug-metabolizing cytochrome P450 enzymes and accessory proteins in dog liver microsomes using label-free standard-free analysis reveals interbreed variability. Drug Metab Dispos — PubMed:PMID31427433 | DOI:10.1124/dmd.119.088070 — OMIA Phene_Article / Article - 2024. A variety of cytochrome P450 enzymes and flavin-containing monooxygenases in dogs and pigs commonly used as preclinical animal models. Biochem Pharmacol — PubMed:PMID38490520 | DOI:10.1016/j.bcp.2024.116124 — OMIA Phene_Article / Article - 2024. Relevance of pharmacogenetics and pharmacogenomics in veterinary clinical practice: A review. Anim Genet — PubMed:PMID37990577 | DOI:10.1111/age.13376 — OMIA Phene_Article / Article - 2025. Adverse drug-drug interaction between phenobarbital and Fluconazole in two dogs. J Vet Intern Med — PubMed:PMID40682369 | DOI:10.1111/jvim.70190 — OMIA Phene_Article / Article [335]

Greyhound — Hereditary nasal parakeratosis (hereditary; OMIA-verified breed predisposition)

Disorder: Hereditary nasal parakeratosis [336]

Clin feat: As summarised by Jagannathan et al. (2013), HNPK affected dogs develop crusts and fissuring of the nasal planum at a young age but are otherwise healthy. The pathognomonic histopathological changes consist of a marked diffuse parakeratotic hyperkeratosis characterized by the retention of nuclei in the stratum corneum and an accumulation of proteinaceous fluid (“serum lakes”) within the stratum corneum. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246091 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Whole-genome sequencing of one of the affected dogs by Jagannathan et al. (2013), and comparison of this sequence in the ~1.6Mb candidate region with the canine reference sequence revealed four non-synonymous variants, one of which "turned out to represent an artifact due to an error in the reference genome assembly". Genotyping of the other three variants in a large (>500) cohort of affected a… Evidence (references) - 2003. Hereditary nasal parakeratosis in Labrador Retrievers. Veterinary Dermatology — PubMed:PMID12662268 — OMIA Phene_Article / Article - 2003. Hereditary nasal parakeratosis in Labrador retrievers: 11 new cases and a retrospective study on the presence of accumulations of serum ('serum lakes') in the epidermis of parakeratotic dermatoses and inflamed nasal plana of dogs. Veterinary Dermatology — PubMed:PMID12895224 — OMIA Phene_Article / Article - 2013. A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation. PLoS Genet — PubMed:PMID24098150 | DOI:10.1371/journal.pgen.1003848 — OMIA Phene_Article / Article - 2018. A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis. Anim Genet — PubMed:PMID29423952 | DOI:10.1111/age.12643 — OMIA Phene_Article / Article - 2020. Abnormal keratinocyte differentiation in the nasal planum of Labrador Retrievers with hereditary nasal parakeratosis (HNPK). PLoS One — PubMed:PMID32119674 | DOI:10.1371/journal.pone.0225901 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606503 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [336]

Harrier — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Harrier (Dog) [61]

Heideterrier — Jack Russel terrier type congenital myasthenic syndrome; post-synaptic congenital myasthenic syndrome; myasthenia gravis-like disease (hereditary; OMIA-verified breed predisposition)

Breed: Heideterrier (Dog) [279]

Hokkaido — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Hokkaido (Dog) [69]

Hovawart — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Hovawart (Dog) [68]

Huntaway — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Huntaway (Dog) [68]

Ibizan Hound — Canine multiple system degeneration; striatonigral and cerebello-olivary degeneration; hereditary cerebellar neuronal abiotrophy (hereditary; OMIA-verified breed predisposition)

Breed: Ibizan Hound (Dog) [221]

Irish Red and White Setter — Canine leukocyte adhesion deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Irish Red and White Setter (Dog) [337]

Disorder: Canine leukocyte adhesion deficiency [337]

Summary: In canine leukocyte adhesion deficiency (CLAD) of the Irish Setter and the Irish Red and White Setter, leucocytes fail to express CD11/CD18 cell surface integrins due to CD18 deficiency. As these cell surface receptors are necessary for interaction with other cells and the extracellular matrix, affected leucocytes are unable to migrate to sites of infection, participate in phagocytosis, or mount a respiratory burst, which results in recurrent, life-threating infections. Clinical signs include severe, recurrent bacterial skin infections, neonatal omphalophlebitis impaired wound healing, wounds that fail to exhibit purulent exudate, fever, gingivitis, lameness, and enlarged lymph nodes. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [337]

Clin feat: Onset of signs is often less than 12 weeks of age, with average age of presentation to the veterinarian at 13.5 weeks. Signs include recurrent infections, neonatal omphalophlebitis, fever, anorexia, lameness, impaired wound healing, severe skin infections, gingivitis, salivation, thickened mandible, enlarged metaphyses of the distal radius, ulna, tibia, and fibula, lameness, enlarged lymph nodes, and low body weight (Creevy et al., 2003a). Characteristically, wounds fail to exhibit purulent exudate (Kijas et al., 1999) in the face of severe peripheral leukocytosis with a left shift and active granulocytosis in the bone marrow. Untreated dogs often die by 6 months of age. Gene therapy has been successful in reversing clinical signs (Creevy et al., 2003b). [337]

Pathology: While affected dogs mount significant circulating leukocytosis, the leukocytes cannot function normally (Jobling et al., 2003, Trowald-Wigh et al., 2000). Affected animals have decreased levels of leucocyte beta-2 integrins (specifically CD11b/CD18), which are cell surface receptors necessary for interactions with other cells and extracellular matrix. These leukocytes are unable to adhere to cells, migrate through the vasculature to sites of inflammation, participate in phagocytosis of complement-opsonized bacteria, or generate a respiratory burst. [337]

Prevalence: Prevalence of the mutant allele is estimated to be approximately 5% in the US Irish Setter population, and 7.6% in the Australian Irish Setter population (Kijas et al., 1999, Jobling et al., 2003). [337]

Control: There is a PCR-based test available to identify affected, carrier, and noncarrier dogs. With both Irish Setters and Irish Red and White Setters, carrier to carrier matings are discouraged. As Irish Setters have a large gene pool, so it is recommended to only breed animals that do not carry the mutation. As Irish Red and White Setters have a smaller gene pool, if carriers are bred, they should only be bred to noncarriers, and the offspring should be tested for the mutation. [337]

Gen test: There is a PCR-based test available to identify affected, carrier, and noncarrier dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403770 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human and bovine disorder), Kijas et al. (1999) showed that the causative mutation is a missense mutation (Cys36Ser) in the ITGB2 gene, which encodes the integrin beta 2 subunit (CD18). Zimmerman et al. (2013) reported the same mutation in a mixed-breed dog. Evidence (references) - 1992. Leucocyte adhesion protein deficiency in Irish setter dogs. Vet Immunol Immunopathol — PubMed:PMID1352926 | DOI:10.1016/0165-2427(92)90050-z — OMIA Phene_Article / Article - 1993. Leucocyte adhesion deficiency in cattle and dogs - A genetic defect of the immune system. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1993. Canine neutrophil adhesion proteins and Fc-receptors in healthy dogs and dogs with adhesion protein deficiency, as studied by flow cytometry. Vet Immunol Immunopathol — PubMed:PMID8291207 | DOI:10.1016/0165-2427(93)90089-m — OMIA Phene_Article / Article - 1999. A missense mutation in the beta-2 integrin gene (ITGB2) causes canine leukocyte adhesion deficiency. Genomics — PubMed:PMID10512685 | DOI:10.1006/geno.1999.5948 — OMIA Phene_Article / Article - 2000. Inborn deficit of adhesion receptors: a new type of disease in cattle, dogs and humans [Review] [Polish]. Medycyna Weterynaryjna — OMIA Phene_Article / Article - 2000. Clinical, radiological and pathological features of 12 Irish setters with canine leucocyte adhesion deficiency. Journal of Small Animal Practice — PubMed:PMID10907223 — OMIA Phene_Article / Article - 2000. Detection of the causal mutation for canine leukocyte adhesion deficiency (CLAD) using pyrosequencing. Animal Genetics — PubMed:PMID11105214 — OMIA Phene_Article / Article - 2002. Canine leucocyte adhesion deficiency in Irish red and white setters. Journal of Small Animal Practice — PubMed:PMID11873952 — OMIA Phene_Article / Article - 2002. Canine leukocyte adhesion deficiency: Presence of the Cys36Ser beta-2 integrin mutation in an affected US Irish Setter cross-breed dog and in US Irish Red and White Setters. Journal of Veterinary Internal Medicine — PubMed:PMID12322699 — OMIA Phene_Article / Article - 2003. Canine leukocyte adhesion deficiency colony for investigation of novel hematopoietic therapies. Veterinary Immunology & Immunopathology — OMIA Phene_Article / Article - 2005. Nonmyeloablative hematopoietic stem cell transplantation corrects the disease phenotype in the canine model of leukocyte adhesion deficiency. Exp Hematol — PubMed:PMID15911095 | DOI:10.1016/j.exphem.2005.03.010 — OMIA Phene_Article / Article - 2008. Successful treatment of canine leukocyte adhesion deficiency by foamy virus vectors. Nat Med — PubMed:PMID18157138 | DOI:10.1038/nm1695 — OMIA Phene_Article / Article - (16 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:116920 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600065 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [337]

Irish Setter — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Irish Setter (Dog) [68]

Irish Terrier — Also described as epidermal acantholysis (hereditary; OMIA-verified breed predisposition)

Breed: Irish Terrier (Dog) [273]

Irish Terrier — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)

Clin feat: As summarised by Brons et al. (2013) cystinuria type III is characterised by: present only in males; androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≤4,000 in homozygotes. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1999. Canine cystine urolithiasis. Cause, detection, treatment, and prevention.. Vet Clin North Am Small Anim Pract — PubMed:PMID10028158 | DOI:10.1016/s0195-5616(99)50011-9 — OMIA Phene_Article / Article - 2013. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.. J Vet Intern Med — PubMed:PMID24001348 | DOI:10.1111/jvim.12176 — OMIA Phene_Article / Article - 2021. Cystinuria in dogs and cats: What do we know after almost 200 years?. Animals (Basel) — PubMed:PMID34438894 | DOI:10.3390/ani11082437 — OMIA Phene_Article / Article - 2015. Urolithiasis.. Vet Clin North Am Small Anim Pract — PubMed:PMID26002797 | DOI:10.1016/j.cvsm.2015.03.001 — OMIA Phene_Article / Article - 2025. Epidemiological evaluation of neuter status, sex, and breed in dogs with cystine uroliths.. J Vet Intern Med — PubMed:PMID40298126 | DOI:10.1111/jvim.70110 — OMIA Phene_Article / Article - 1999. Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract — PubMed:PMID10028158 | DOI:10.1016/s0195-5616(99)50011-9 — OMIA Phene_Article / Article - 2013. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med — PubMed:PMID24001348 | DOI:10.1111/jvim.12176 — OMIA Phene_Article / Article - 2021. Cystinuria in dogs and cats: What do we know after almost 200 years?. Animals (Basel) — PubMed:PMID34438894 | DOI:10.3390/ani11082437 — OMIA Phene_Article / Article - 2015. Urolithiasis. Vet Clin North Am Small Anim Pract — PubMed:PMID26002797 | DOI:10.1016/j.cvsm.2015.03.001 — OMIA Phene_Article / Article - 2025. Epidemiological evaluation of neuter status, sex, and breed in dogs with cystine uroliths. J Vet Intern Med — PubMed:PMID40298126 | DOI:10.1111/jvim.70110 — OMIA Phene_Article / Article - 1999. Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract — PubMed:PMID10028158 | DOI:10.1016/s0195-5616(99)50011-9 — OMIA Phene_Article / Article - 2013. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med — PubMed:PMID24001348 | DOI:10.1111/jvim.12176 — OMIA Phene_Article / Article - 2021. Cystinuria in dogs and cats: What do we know after almost 200 years?. Animals (Basel) — PubMed:PMID34438894 | DOI:10.3390/ani11082437 — OMIA Phene_Article / Article - 2015. Urolithiasis. Vet Clin North Am Small Anim Pract — PubMed:PMID26002797 | DOI:10.1016/j.cvsm.2015.03.001 — OMIA Phene_Article / Article - 2025. Epidemiological evaluation of neuter status, sex, and breed in dogs with cystine uroliths. J Vet Intern Med — PubMed:PMID40298126 | DOI:10.1111/jvim.70110 — OMIA Phene_Article / Article - 1999. Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract — PubMed:PMID10028158 | DOI:10.1016/s0195-5616(99)50011-9 — OMIA Phene_Article / Article - 2013. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med — PubMed:PMID24001348 | DOI:10.1111/jvim.12176 — OMIA Phene_Article / Article - 2021. Cystinuria in dogs and cats: What do we know after almost 200 years?. Animals (Basel) — PubMed:PMID34438894 | DOI:10.3390/ani11082437 — OMIA Phene_Article / Article - 2015. Urolithiasis. Vet Clin North Am Small Anim Pract — PubMed:PMID26002797 | DOI:10.1016/j.cvsm.2015.03.001 — OMIA Phene_Article / Article - 2025. Epidemiological evaluation of neuter status, sex, and breed in dogs with cystine uroliths. J Vet Intern Med — PubMed:PMID40298126 | DOI:10.1111/jvim.70110 — OMIA Phene_Article / Article - 1999. Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract — PubMed:PMID10028158 | DOI:10.1016/s0195-5616(99)50011-9 — OMIA Phene_Article / Article - 2013. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med — PubMed:PMID24001348 | DOI:10.1111/jvim.12176 — OMIA Phene_Article / Article - 2021. Cystinuria in dogs and cats: What do we know after almost 200 years?. Animals (Basel) — PubMed:PMID34438894 | DOI:10.3390/ani11082437 — OMIA Phene_Article / Article - 2015. Urolithiasis. Vet Clin North Am Small Anim Pract — PubMed:PMID26002797 | DOI:10.1016/j.cvsm.2015.03.001 — OMIA Phene_Article / Article - 2025. Epidemiological evaluation of neuter status, sex, and breed in dogs with cystine uroliths. J Vet Intern Med — PubMed:PMID40298126 | DOI:10.1111/jvim.70110 — OMIA Phene_Article / Article [338]

Irish Water Spaniel — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Irish Water Spaniel (Dog) [61]

Irish Wolfhound — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Irish Wolfhound (Dog) [68]

Irish Wolfhound — Hyperekplexia (Startle disease), SLC6A5-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Clinical signs begin at birth. Puppies display an involuntary ‘startle response’ characterised by generalised or intermittent extensor rigidity induced by unexpected handling or noise (Gill et al., 2011). Neonatal Irish wolfhounds have been reported to develop cyanosis and pneumonia when feeding due to extended periods of rigidity causing apnoea (Gill et al., 2011). Neonatal Spanish greyhounds were unable to properly walk or stand due to episodes of extensor rigidity. When owners attempted to assists the puppies with walking, their touch induced further extensor rigidity (Murphy et al. ̧ 2019). Neonatal death in hyperekplexic puppies is not uncommon due to the complications of feeding and breathing during hypertonic episodes/startle responses. [339]

Pathology: Post-mortem examination of Irish Wolfhound puppies with hyperekplexia have revealed no obvious muscular or neurological lesions resulting from the generic variants (Gill et al., 2011). [339]

Prevalence: Murphy et al. (2019): The [Spanish Greyhound] pathogenic variant [omia.variant:1080] was absent from 34 unrelated greyhounds, 659 domestic dogs of pure and mixed breeds, and 54 wild canids, suggesting it occurred recently and may be private to the family. While the Old English Sheepdog variant (omia.variant:1785) was found in one (unrelated) Old English Sheepdog, it was not found in 61 dogs of related breeds (Boeykens et al., 2025). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3543883 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Gill et al. (2011): "analysis of SLC6A5 revealed a homozygous 4.2 kb microdeletion [omia.variant:638] encompassing exons 2 and 3 in both affected [Irish Wolfhound] animals." Murphy et al. (2019): "Whole genome resequencing of an affected [Spanish greyhound] dog revealed a homozygous two base pair deletion in the ninth exon of SLC6A5 [omia.variant:1080], encoding the presynaptic g… Evidence (references) - 2011. Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiol Dis — PubMed:PMID21420493 | DOI:10.1016/j.nbd.2011.03.010 — OMIA Phene_Article / Article - 1984. Familial reflex myoclonus in Labrador Retrievers. Am J Vet Res — PubMed:PMID6524730 — OMIA Phene_Article / Article - 2019. A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds. Hum Genet — PubMed:PMID30847549 | DOI:10.1007/s00439-019-01986-x — OMIA Phene_Article / Article - 2021. International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med — PubMed:PMID33769611 | DOI:10.1111/jvim.16108 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article - 2025. A frameshift variant in the SLC6A5 gene is associated with startle disease in a family of Old English Sheepdogs. Anim Genet — PubMed:PMID40012122 | DOI:10.1111/age.70003 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:604159 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614618 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [339]

Italian Cane Corso — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)

Breed: Italian Cane Corso (Dog) [76]

Italian Cane Corso — Dental-skeletal-retinal anomaly, MIA3-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Christen et al. (2021): Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246862 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Christen et al. (2021) "The comparison of whole genome sequence data of an affected dog to 789 control genomes revealed a private homozygous splice region variant in the critical interval. It affected the MIA3 gene encoding the MIA SH3 domain ER export factor 3, which has an essential role in the export of collagen and other secreted proteins. The identified variant, XM_005640835.3:c.3822+3_3822+4… Evidence (references) - 2021. MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes (Basel) — PubMed:PMID34680893 | DOI:10.3390/genes12101497 — OMIA Phene_Article / Article - 2009. TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites. Cell — PubMed:PMID19269366 | DOI:10.1016/j.cell.2008.12.025 — OMIA Phene_Article / Article - 2015. The pathway of collagen secretion. Annu Rev Cell Dev Biol — PubMed:PMID26422332 | DOI:10.1146/annurev-cellbio-100913-013002 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. Dental abnormalities in two dental-skeletal-retinal anomaly-positive Cane Corso dogs: A case series. J Vet Dent — PubMed:PMID38146186 | DOI:10.1177/08987564231215170 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613455 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:619269 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [340]

Italian Greyhound — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Italian Greyhound (Dog) [94]

Italian Greyhound — Congenital muscular dystrophy, LAMA2-related (hereditary; OMIA-verified breed predisposition)

Summary: Muscular dystrophy due to causal variants in LAMA2 is one of several inherited forms of muscular dystrophy in dogs. [341]

Clin feat: The affected [Italian Greyhound] dog presented with an abnormal short-strided gait, generalized muscle atrophy, and poor growth since 2-months of age. Serum biochemistry revealed a marked elevation in creatine kinase activity. Electrodiagnostic testing supported a myopathy.. Physical examination revealed a poor body condition score (1/9) with generalized skeletal muscle atrophy. The dog would stand with mild kyphosis and valgus deformities. When ambulating the dog would maintain this posture, show a stiff pelvic limb gait with limited flexion of both stifles and hocks, and would externally rotate both tarsi during the early swing phase while externally rotating the stifles during the postural stance phase. The patellar reflexes were decreased bilaterally and the withdrawal reflexes were mildly decreased in the thoracic limbs.. At 8 months of age, the gait worsened with intermittent, bilateral pelvic limb lameness. A repeat orthopedic examination revealed grade 3 and grade 2 patellar luxation on the left and right pelvic limb, respectively. Body condition score remained poor at 2/9. The dog was still alive at the time of manuscript submission, at one year and six months of age. At that stage, he was occasionally stumbling in the thoracic limbs and was coping with two walks a day of approximately 1800 meters each. Occasionally, he was taken for approximately 4000 m walks on top of his regular walks, after which he seemed tired. (Christen et al. 2021). Shelton et al. (2022): The [FS Staffordshire terrier] dog of this report presented for clinical evaluation at 2 years of age; however, clinical signs of weakness, stiff gait, and reduced jaw mobility had been present since the dog was adopted from a shelter at a few months of age. The history, neurological examination, increases in CK, electromyography abnormalities, and pathological changes on muscle biopsy were consistent with a chronic and progressive dystrophic myopathy... Neither cranial nerve abnormalities nor behavioral changes were identified. [341]

Pathology: Christen et al. (2021): Biopsies [from the Italian Greyhound] were evaluated from the cranial tibial and gluteus muscles with similar changes in both muscles. A marked variability in myofiber size was observed with numerous atrophic fibers (diameters < 10 µm) and scattered hypertrophic fibers. Mild endomysial fibrosis, scattered myofibers containing internal nuclei, and occasional necrotic fibers undergoing phagocytosis were observed. The pattern of changes were consistent with a congenital myopathy with a dystrophic phenotype. Shelton et al. (2022): A dystrophic phenotype was identified histologically in muscle biopsies [of the FS Staffordshire terrier], deficiency of laminin α2 protein was confirmed by immunofluorescent staining. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388250508 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Christen et al. (2021) "sequenced the genome of the affected [Italian Greyhound] dog and compared the data to that of 795 control genomes. This search revealed a private homozygous nonsense variant in LAMA2, XM_022419950.1:c.3285G>A, predicted to truncate 65% of the open reading frame of the wild type laminin α2 protein, XP_022275658.1:p.(Trp1095*). Immunofluorescent staining performed on muscl… Evidence (references) - 2021. LAMA2 nonsense variant in an Italian Greyhound with congenital muscular dystrophy. Genes (Basel) — PubMed:PMID34828429 | DOI:10.3390/genes12111823 — OMIA Phene_Article / Article - 2022. Congenital muscular dystrophy in a dog with a LAMA2 gene deletion. J Vet Intern Med — PubMed:PMID34854126 | DOI:10.1111/jvim.16330 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:156225 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607855 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618138 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [341]

Italian Greyhound — Multiple autoimmune diseases syndrome (hereditary; OMIA-verified breed predisposition)

Summary: see also OMIA 001179-9615: Polyglandular autoimmune syndrome, type II in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2012. Multiple autoimmune diseases syndrome in Italian Greyhounds: preliminary studies of genome-wide diversity and possible associations within the dog leukocyte antigen (DLA) complex.. Vet Immunol Immunopathol — PubMed:PMID22178273 | DOI:10.1016/j.vetimm.2011.11.015 — OMIA Phene_Article / Article - 2022. A suspected case of a multiple autoimmune syndrome in a poodle dog.. Vet Med Sci — PubMed:PMID35137556 | DOI:10.1002/vms3.741 — OMIA Phene_Article / Article - 2012. Multiple autoimmune diseases syndrome in Italian Greyhounds: preliminary studies of genome-wide diversity and possible associations within the dog leukocyte antigen (DLA) complex. Vet Immunol Immunopathol — PubMed:PMID22178273 | DOI:10.1016/j.vetimm.2011.11.015 — OMIA Phene_Article / Article - 2022. A suspected case of a multiple autoimmune syndrome in a poodle dog. Vet Med Sci — PubMed:PMID35137556 | DOI:10.1002/vms3.741 — OMIA Phene_Article / Article - 2012. Multiple autoimmune diseases syndrome in Italian Greyhounds: preliminary studies of genome-wide diversity and possible associations within the dog leukocyte antigen (DLA) complex. Vet Immunol Immunopathol — PubMed:PMID22178273 | DOI:10.1016/j.vetimm.2011.11.015 — OMIA Phene_Article / Article - 2022. A suspected case of a multiple autoimmune syndrome in a poodle dog. Vet Med Sci — PubMed:PMID35137556 | DOI:10.1002/vms3.741 — OMIA Phene_Article / Article - 2012. Multiple autoimmune diseases syndrome in Italian Greyhounds: preliminary studies of genome-wide diversity and possible associations within the dog leukocyte antigen (DLA) complex. Vet Immunol Immunopathol — PubMed:PMID22178273 | DOI:10.1016/j.vetimm.2011.11.015 — OMIA Phene_Article / Article - 2022. A suspected case of a multiple autoimmune syndrome in a poodle dog. Vet Med Sci — PubMed:PMID35137556 | DOI:10.1002/vms3.741 — OMIA Phene_Article / Article - 2012. Multiple autoimmune diseases syndrome in Italian Greyhounds: preliminary studies of genome-wide diversity and possible associations within the dog leukocyte antigen (DLA) complex. Vet Immunol Immunopathol — PubMed:PMID22178273 | DOI:10.1016/j.vetimm.2011.11.015 — OMIA Phene_Article / Article - 2022. A suspected case of a multiple autoimmune syndrome in a poodle dog. Vet Med Sci — PubMed:PMID35137556 | DOI:10.1002/vms3.741 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:269200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [342]

Italian Hound — Myeloperoxidase deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Italian Hound (Dog) [343]

Pathology: Gentilini et al. (2016): During routine examinations, we identified a 12-year-old Italian hound dog from the local dog shelter that despite the absence of any evident symptoms of the underlying disease showed primary MPOD in the polymorphonuclear leucocytes and monocytes. This was evident from a complete blood count on an ADVIA 2120 Siemens Analyser with automated MPO staining for differentiation of white blood cells. In typical staining scattergrams, MPO-positive cells, such as neutrophils and monocytes, are clustered within specified areas demarcated by thresholds. The affected dog showed a scattergram typical for MPOD deficiency in humans with all white blood cells consistently aligned on the left in the large unstained cell area. To confirm the diagnosis, the complete blood count was repeated once a month for three consecutive months with identical findings Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388304943 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Gentilini et al. (2016): "a homozygous c.1987C>T (Ensembl transcript ID: ENSCAFT00000027699) or c.1753C>T (Ensembl transcript ID: ENSCAFT00000049922) [nonsense] substitution, which results in a premature termination codon (p.663Arg*) in the superoxide domain" of the gene encoding myeloperoxidase (MPO). Evidence (references) - 2016. A nonsense mutation in the myeloperoxidase gene is responsible for hereditary myeloperoxidase deficiency in an Italian hound dog. Anim Genet — PubMed:PMID27296514 | DOI:10.1111/age.12463 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:254600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606989 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [343]

Italian Spinone — Spinocerebellar ataxia (hereditary; OMIA-verified breed predisposition)

Breed: Italian Spinone (Dog) [344]

Disorder: Spinocerebellar ataxia [344]

Clin feat: Clinical signs start to appear at four months of age and progress to a degree of dysfunction which leads to euthanasia of affected dogs at one year of age on average.. Neurological characteristics of SCAIS include a wide-based stance, spinocerebellar ataxia characterised by thoracic limb hypermetria (hyperextension), pelvic limb hyperflexion, truncal swaying, impaired balance, pendular nystagmus and absent menace response bilaterally. The remainder of the neurological examination was within normal limits. As the disease progressed intentional head tremor was observed and balance impairment deteriorated to the point that the dogs were unable to stand up and ambulate at approximately 1 year of age. (Forman et al. 2015) [344]

Pathology: The overall size and volume ratios of ITPR1 mutant Italian Spinone cerebella as well as the lobule and folia formation, the diameters of the fissures and sulci and the area of the subarachnoid space were within a normal range. Cerebellocortical layers were sharply delineated, the Purkinje cells (PC) were correctly placed and the granule cell layer presented with normal density and glomerula formation.. In affected IS, the molecular layer exhibited some focal stellate cell hypercellularity. (Forman et al. 2015). Immunohistochemistry with an anti-ITPR1 antibody revealed a distortion of the of monoplanar orientation of the dendritic trees. Instead of the two-dimensional arborisation in sagittal plane, the dendrites, now birch-broom-like, extended into the molecular layer towards the pial membrane. Thereby, secondary and tertiary dendrites and spiny branchlets left the stem at a moderately steep angle (Fig. 6d). Both reduced ITPR1 expression and the defective planar orientation of immunopositive cells involved all lobules and functional subfields of the affected cerebella with a mild emphasis on the spinocerebellar parts of the vermis. (Forman et al. 2015) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244992 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Forman et al. (2015) identified an expanded GAA-repeat in intron 35 of the ITPR1 gene in affected dogs. The wildtype sequence contains 8 GAA repeats. The expanded disease-associated alleles carry an estimated 318-651 GAA repeats. Using immunohistochemistry Forman et al. (2015) observed reduced ITPR1 protein expression in Purkinje cells of the cerebellum and a distortion of the monoplanar orientati… Evidence (references) - 2015. Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome — PubMed:PMID25354648 | DOI:10.1007/s00335-014-9547-6 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606658 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:117360 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:206700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:147265 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [344]

Jack Russell Terrier — Ataxia, SETX-related (hereditary; OMIA-verified breed predisposition)

Breed: Jack Russell Terrier (Dog) [345]

Clin feat: Shelton et al. (2026) describe an 8-year-old intact male Jack Russell Terrier with a 9-month history of slowly progressive gait disturbances that advanced over 2 years to generalized stiffness without ataxia and severe bilateral hyperflexion of all limbs.. Complete blood count and serum biochemistry analysis including creatine kinase activity were normal. Electrophysiological examination showed no abnormalities. Muscle biopsy samples collected at a later stage of the disease showed no abnormalities. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299107 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Shelton et al. (2026) report a homozygous frameshift variant in SETX (omia.variant:1902) as likely causal variant for a Jack Russell Terrier with ataxia. Evidence (references) - 2026. Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin). J Vet Intern Med — PubMed:PMID42105303 | DOI:10.1093/jvimsj/aalag085 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608465 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:602433 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606002 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [345]

Jack Russell Terrier — Combined immunodeficiency disease (hereditary; OMIA-verified breed predisposition)

Disorder: Combined immunodeficiency disease [346]

Summary: See: '[OMIA:001574-9615]: Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris' for a autosomal severe combined immunodeficiency due genetic variants in the RAG1 gene. [346]

Jack Russell Terrier — Familial adenomatous polyposis (hereditary; OMIA-verified breed predisposition)

Prevalence: From a sample of 792 Jack Russel Terriers (JRTs) from 93 Japanese veterinary clinics, Yoshizaki et al. (2022) reported that The current frequency of the germline APC variant [c.[462_463delinsTT]; OMIA variant 1206] was approximately 2% in JRTs in Japan and the frequency remained roughly flat during the last 15 years. In addition, hereditary GI polyposis associated with the variant was virtually specific to JRTs. [347]

Gen test: Yoshizaki et al. (2021) reported a PCR-based genotyping test for the c.[462_463delinsTT] variant. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246964 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Yoshizaki et al. (2020) reported that "all examined JRTs with GI polyps (n=21) harbored the identical heterozygous germline APC mutations, represented by a two-base pair substitution [c.[462_463delinsTT]]. The latter substitution was a nonsense mutation (p.K155X) resulting in a truncated APC protein, thus suggesting a strong association with this cancer-prone disorder." Evidence (references) - 2020. Familial adenomatous polyposis in dogs: Hereditary gastrointestinal polyposis in Jack Russell terriers with germline APC mutations. Carcinogenesis — PubMed:PMID32445578 | DOI:10.1093/carcin/bgaa045 — OMIA Phene_Article / Article - 2021. PCR-based genotyping assays to detect germline APC variant associated with hereditary gastrointestinal polyposis in Jack Russell terriers. BMC Vet Res — PubMed:PMID33461531 | DOI:10.1186/s12917-020-02731-7 — OMIA Phene_Article / Article - 2022. Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution. BMC Vet Res — PubMed:PMID35717217 | DOI:10.1186/s12917-022-03338-w — OMIA Phene_Article / Article - 2023. First evidence of familial transmission of hereditary gastrointestinal polyposis associated with germline APC variant in Jack Russell Terriers. Vet Sci — PubMed:PMID37505844 | DOI:10.3390/vetsci10070439 — OMIA Phene_Article / Article - 2026. TP53 loss attenuates C1q-associated macrophage remodeling in early adenomatous polyps in a porcine FAP model. Front Immunol — PubMed:PMID42516388 | DOI:10.3389/fimmu.2026.1837646 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:175100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:611731 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [347]

Jack Russell Terrier — spinocerebellar ataxia, hereditary ataxia (hereditary; OMIA-verified breed predisposition)

Disorder: spinocerebellar ataxia, hereditary ataxia [348]

Clin feat: The clinics and pathology of hereditary ataxia in Jack Russell and Parson Russell Terriers were mostly studied before the different causative variants in CAPN1 (this entry) and KCNJ10 (see the related entry 002089-9615) were identified. It is therefore not fully clear which genetic form of ataxia was investigated in the earlier publications. It is likely that there are even more genetically distinct forms of ataxia present in Russell group terriers. The CAPN1 form of this disease manifests as a slowly progressing pelvic limb incoordination, with an onset usually at 2 to 9 months of age. As the disease progresses a characteristic “dancing” or “prancing” gait is displayed, especially affecting the pelvic limbs. The age at onset of Parson Russell Terrier cases that were used to identify the CAPN1:p.Cys115Tyr variant ranged between 7-12 months. (Forman et al. 2013). The supplementary video S1 in this publication illustrates the clinical phenotype. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388250277 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Target-enriched deep sequencing of the 1.8Mb candidate region (see Mapping section) and checking identified mutations in various samples of dogs eventually enabled Forman et al. (2013) to claim "a missense mutation ([c.344G>A;] p.Cys115Tyr) in the gene encoding the large subunit of calcium dependent cysteine protease, μ-calpain (CAPN1)" as "a provocative candidate for the cause of SCA in the PR… Evidence (references) - 1973. Ataxia in Jack Russell Terriers. Acta Neuropathol — PubMed:PMID4747697 | DOI:10.1007/BF00685524 — OMIA Phene_Article / Article - 1991. Congenital tremor with spongy degeneration of the central nervous system in two puppies. J Vet Intern Med — PubMed:PMID2061870 | DOI:10.1111/j.1939-1676.1991.tb00937.x — OMIA Phene_Article / Article - 1993. Cerebellar ataxia in Jack Russell Terriers. Veterinary Record — OMIA Phene_Article / Article - 2004. Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. J Vet Intern Med — PubMed:PMID15320590 | DOI:10.1892/0891-6640(2004)182.0.co;2 — OMIA Phene_Article / Article - 2013. Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One — PubMed:PMID23741357 | DOI:10.1371/journal.pone.0064627 — OMIA Phene_Article / Article - 2012. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID22634896 | DOI:10.1136/vr.e3642 — OMIA Phene_Article / Article - 2012. Hereditary ataxia, myokymia and neuromyotonia in Jack Russell Terriers. Vet Rec — PubMed:PMID22872628 | DOI:10.1136/vr.e5021 — OMIA Phene_Article / Article - 2014. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID24736825 | DOI:10.1136/vr.g1972 — OMIA Phene_Article / Article - 2014. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID24736826 | DOI:10.1136/vr.g1973 — OMIA Phene_Article / Article - 2016. Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans. Cell Reports — PubMed:PMID27320912 | DOI:10.1016/j.celrep.2016.05.044 — OMIA Phene_Article / Article - 2016. [Correction to] Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. American Journal of Human Genetics — PubMed:PMID27259058 | DOI:10.1016/j.ajhg.2016.05.009 — OMIA Phene_Article / Article - 2016. Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. Am J Hum Genet — PubMed:PMID27153400 | DOI:10.1016/j.ajhg.2016.04.002 — OMIA Phene_Article / Article - (4 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:616907 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:114220 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [348]

Japanese Chin — Gangliosidosis, GM2, type I (hereditary; OMIA-verified breed predisposition)

Breed: Japanese Chin (Dog) [349]

Disorder: Gangliosidosis, GM2, type I [349]

Summary: GM2 gangliosidos is a fatal lysosomal storage disease caused by a deficiency of β-hexosaminidase (EC 3.2.1.52). There are two major isoforms of the enzyme: hexosaminidase A composed of an α and a β subunit (encoded by HEXA and HEXB genes, respectively); and, hexosaminidase B composed of two β subunits. Hexosaminidase A requires an activator protein encoded by GM2A to catabolize GM2 ganglioside, but even in the absence of the activator protein, it can hydrolyze the synthetic substrates commonly used to assess enzyme activity. Mutations in the HEXA gene cause type I (or type B) GM2 gangliosidosis, also called Tay-Sachs disease in humans. In dogs the age of onset is between 1 and 2 years and affected dogs exhibit progressive cerebellar ataxia, altered mental status and vision deficits. The disease is progressive and leads to death or requires euthanasia within a few months. [349]

Pathology: Freeman et al. (2013) reported the first MRI description of the B variant of GM2 gangliosidosis in 2 Japanese Chin dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252965 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: GM2 gangliosidosis, type I in Japanese Chin dogs is most likely caused by the c.967G>A variant in the HEXA gene, which leads to the p.E323K substitution. The wildtype glutamate at position 323 is part of the catalytically active site of hexosaminidase, Therefore, the variant is predicted to result in a complete loss of enzymatic activity (Sanders et al. 2013). Genotyping one of the two cases in th… Evidence (references) - 1985. GM2 gangliosidosis in a Japanese spaniel. Acta Neuropathol — PubMed:PMID2931941 | DOI:10.1007/BF00687809 — OMIA Phene_Article / Article - 1987. Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel. J Neurochem — PubMed:PMID2949061 | DOI:10.1111/j.1471-4159.1987.tb05596.x — OMIA Phene_Article / Article - 2013. GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Mol Genet Metab — PubMed:PMID23266199 | DOI:10.1016/j.ymgme.2012.11.008 — OMIA Phene_Article / Article - 2013. GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. J Vet Intern Med — PubMed:PMID23731274 | DOI:10.1111/jvim.12118 — OMIA Phene_Article / Article - 2016. Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet — PubMed:PMID27499644 | DOI:10.2147/TACG.S85354 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:272800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606869 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [349]

Japanese Spitz — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Japanese Spitz (Dog) [61]

Karelian Bear Dog — Chondrodysplasia, disproportionate short-limbed, ITGA10-related' (hereditary; OMIA-verified breed predisposition)

Breed: Karelian Bear Dog (Dog) [226]

Karelian Bear Dog — Hypophosphatasia (hereditary; OMIA-verified breed predisposition)

Clin feat: Kyöstilä et al. (2019): The disease was recognized in seven KBD puppies with a variable presentation of skeletal hypomineralization, growth retardation, seizures and movement difficulties [350]

Pathology: Kyöstilä et al. (2019): Overall, the pathological findings in affected dogs were compatible with a generalized skeletal ossification and mineralization defect. The specific finding of C cell hyperplasia was indicative of long-term hypercalcemia and compatible with the elevated serum calcium level measured in one affected puppy. [350]

Prevalence: Kyöstilä et al. (2019): The identified recessive variant showed full segregation with the disease in a cohort of 509 KBDs with a carrier frequency of 0.17 and was absent from 303 dogs from control breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: ALP (Entrez Gene ID 388199066) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Kyöstilä et al. (2019): "Exome sequencing of one affected dog revealed a homozygous missense variant (c.1301T > G; p.V434G) in the tissue non-specific alkaline phosphatase gene, ALPL." Evidence (references) - 2019. A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. Sci Rep — PubMed:PMID30700765 | DOI:10.1038/s41598-018-37801-2 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:241500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:171760 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [350]

Karelian Bear Dog — combined pituitary hormone deficiency dwarfism; hypopituitarism dwarfism; pituitary dwarfism (hereditary; OMIA-verified breed predisposition)

Disorder: combined pituitary hormone deficiency dwarfism; hypopituitarism dwarfism; pituitary dwarfism [351]

Clin feat: Karelian bear dogs with the homozygous POU1F1 defect present with proportional dwarfism, being approximately 18cm smaller in height than unaffected KBDs (Andresen & Willeberg, 1976). Affected dogs either retain their puppy coat or appear to have a regular adult coat until around 2-3 years of age when their hair coat is almost completely lost (Andresen & Willeberg, 1976). Clinical presentations can be more severe with early onset neurological signs including seizures and blindness in puppies (Kyostila et al., 2021). [351]

Keeshond — Conotruncal heart malformations (hereditary; OMIA-verified breed predisposition)

Breed: Keeshond (Dog) [352]

Summary: Conotruncal defects are a type of congenital heart defect characterized by abnormal formation and union of the endocardial cushions that normally divide the atrioventricular canal during development. The severity of the defect can vary from subclinical to life threatening. Clinical signs include exercise intolerance, cyanosis, and a systolic murmur. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [352]

Clin feat: Clinical signs include exercise intolerance with cyanosis and a systolic murmur. Radiographs may show reduced circulation in the pulmonary vessels along with right ventricular hypertrophy. Diagnosis can be obtained by echocardiogram or angiogram. [352]

Pathology: Opposing areas of mesenchymal tissue known as the atrioventricular endocardial cushions divide the atrioventricular canal during cardiac development. Abnormal septation is caused by abnormal formation and fusion of these cushions. Conotruncal defects include varying degrees of abnormality in the septation of the heart during development, which are divided into four grades of severity Patterson et al., 1974). Grade 1: The defects are subclinical, and include a persistent conus septum fusion line, an aneurysm in the ventricular septum, and absence of the papillary muscle of the conus. Otherwise, the heart is normal and no murmurs are present. Grade 2: Affected animals have a ventricular septal defect. Grade 3: Affected dogs have Tetralogy of Fallot, which is the combination of pulmonic stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy. Grade 4: Affected animals have a persistent truncus arteriosus, where the pulmonary artery and aorta arise from the truncus and there is no supraventricular crest. Occasionally, affected dogs also have anomalies of the aortic arch system, such as persistent ductus arteriosus, retroesophageal right subclavian artery, lateral origin of the aortic arch branches, and persistent left cranial vena cava (Patterson et al., 1974). [352]

Prevalence: Conotruncal defects in the Keeshond have been studied extensively (Werner et al., 2005). [352]

Control: The recommendation is that affected dogs with congenital heart defects should not be bred, even if they are only mildly affected. At this time, there are neither good statistical models to predict risks nor reliable methods to detect all carriers. Dogs will the subclinical form (Grade1) are not reliably detected by clinical evaluation. Nevertheless, a complete cardiovascular workup should be performed prior to breeding of any relatives of affected dogs. Test matings, with evaluation of all offspring, can be used to evaluate breeding animals. [352]

Gen test: Not available. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Causal variant(s) - Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene - Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene - Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene - Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene - Variant: chromosome 6; pathogenicity class 1; gene SCFR — OMIA Variant / Variant_Phene Evidence (references) - 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article - 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article - 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article - 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article - 2005. The keeshond defect in cardiac conotruncal development is oligogenic.. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article - 2009. Cardiac conotruncal malformations in a family of Beagle dogs.. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article - 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond.. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article - 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article - 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article - 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article - 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article - 2005. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article - 2009. Cardiac conotruncal malformations in a family of Beagle dogs. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article - 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article - 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article - 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article - 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article - 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article - 2005. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article - 2009. Cardiac conotruncal malformations in a family of Beagle dogs. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article - 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article - 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article - 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article - 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article - 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article - 2005. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article - 2009. Cardiac conotruncal malformations in a family of Beagle dogs. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article - 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article - 1977. Hereditary conotruncal septal defects in Keeshond dogs: embryologic studies. American Journal of Cardiology — PubMed:PMID930841 — OMIA Phene_Article / Article - 1974. Hereditary defects of the conotruncal septum in Keeshond dogs: pathologic and genetic studies. Am J Cardiol — PubMed:PMID4843154 | DOI:10.1016/0002-9149(74)90198-2 — OMIA Phene_Article / Article - 1993. A Single Major-Gene Defect Underlying Cardiac Conotruncal Malformations Interferes with Myocardial Growth During Embryonic Development - Studies in the CTD Line of Keeshond Dogs. American Journal of Human Genetics — PubMed:PMID8430699 — OMIA Phene_Article / Article - 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. Journal of Heredity — PubMed:PMID10485139 — OMIA Phene_Article / Article - 2005. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet — PubMed:PMID15711798 | DOI:10.1007/s00439-004-1242-3 — OMIA Phene_Article / Article - 2009. Cardiac conotruncal malformations in a family of Beagle dogs. J Small Anim Pract — PubMed:PMID19814768 | DOI:10.1111/j.1748-5827.2009.00815.x — OMIA Phene_Article / Article - 1978. Lesion-specific genetic factors in canine congenital heart diseases: patent ductus arteriosus in poodles, defects of the conotruncal septum in the Keeshond. Birth Defects Orig Artic Ser — PubMed:PMID737304 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:217095 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [352]

Keeshond — Tetralogy of Fallot (hereditary; OMIA-verified breed predisposition)

Summary: see conotruncal heart malformations in the dog Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1995. Palliative treatment of tetralogy of fallot in a dog using a ptfe (polytetrafluorethylene) vascular graft [German]. Schweizer Archiv fur Tierheilkunde — PubMed:PMID7494990 — OMIA Phene_Article / Article - 1997. Retrospective study of congenital heart defects in 151 dogs. Journal of Small Animal Practice — PubMed:PMID9097239 — OMIA Phene_Article / Article - 1998. Open-heart correction of tetralogy of fallot in an acyanotic dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1999. Balloon dilation of right ventricular outflow tract in a dog with tetralogy of Fallot. Journal of Veterinary Medical Science — PubMed:PMID10535516 — OMIA Phene_Article / Article - 2001. Open surgical repair of tetralogy of Fallot in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID11700706 — OMIA Phene_Article / Article - 2009. Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF).. J Anim Breed Genet — PubMed:PMID19630881 | DOI:10.1111/j.1439-0388.2008.00776.x — OMIA Phene_Article / Article - 2016. Epidemiological, clinical, and echocardiographic features and survival times of dogs and cats with tetralogy of Fallot: 31 cases (2003-2014).. J Am Vet Med Assoc — PubMed:PMID27700266 | DOI:10.2460/javma.249.8.909 — OMIA Phene_Article / Article - 2024. Complex tetralogy of Fallot in an acyanotic adult dog.. CASE (Phila) — PubMed:PMID38524971 | DOI:10.1016/j.case.2023.12.010 — OMIA Phene_Article / Article - 1995. Palliative treatment of tetralogy of fallot in a dog using a ptfe (polytetrafluorethylene) vascular graft [German]. Schweizer Archiv fur Tierheilkunde — PubMed:PMID7494990 — OMIA Phene_Article / Article - 1997. Retrospective study of congenital heart defects in 151 dogs. Journal of Small Animal Practice — PubMed:PMID9097239 — OMIA Phene_Article / Article - 1998. Open-heart correction of tetralogy of fallot in an acyanotic dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1999. Balloon dilation of right ventricular outflow tract in a dog with tetralogy of Fallot. Journal of Veterinary Medical Science — PubMed:PMID10535516 — OMIA Phene_Article / Article - 2001. Open surgical repair of tetralogy of Fallot in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID11700706 — OMIA Phene_Article / Article - 2009. Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). J Anim Breed Genet — PubMed:PMID19630881 | DOI:10.1111/j.1439-0388.2008.00776.x — OMIA Phene_Article / Article - 2016. Epidemiological, clinical, and echocardiographic features and survival times of dogs and cats with tetralogy of Fallot: 31 cases (2003-2014). J Am Vet Med Assoc — PubMed:PMID27700266 | DOI:10.2460/javma.249.8.909 — OMIA Phene_Article / Article - 2024. Complex tetralogy of Fallot in an acyanotic adult dog. CASE (Phila) — PubMed:PMID38524971 | DOI:10.1016/j.case.2023.12.010 — OMIA Phene_Article / Article - 1995. Palliative treatment of tetralogy of fallot in a dog using a ptfe (polytetrafluorethylene) vascular graft [German]. Schweizer Archiv fur Tierheilkunde — PubMed:PMID7494990 — OMIA Phene_Article / Article - 1997. Retrospective study of congenital heart defects in 151 dogs. Journal of Small Animal Practice — PubMed:PMID9097239 — OMIA Phene_Article / Article - 1998. Open-heart correction of tetralogy of fallot in an acyanotic dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1999. Balloon dilation of right ventricular outflow tract in a dog with tetralogy of Fallot. Journal of Veterinary Medical Science — PubMed:PMID10535516 — OMIA Phene_Article / Article - 2001. Open surgical repair of tetralogy of Fallot in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID11700706 — OMIA Phene_Article / Article - 2009. Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). J Anim Breed Genet — PubMed:PMID19630881 | DOI:10.1111/j.1439-0388.2008.00776.x — OMIA Phene_Article / Article - 2016. Epidemiological, clinical, and echocardiographic features and survival times of dogs and cats with tetralogy of Fallot: 31 cases (2003-2014). J Am Vet Med Assoc — PubMed:PMID27700266 | DOI:10.2460/javma.249.8.909 — OMIA Phene_Article / Article - 2024. Complex tetralogy of Fallot in an acyanotic adult dog. CASE (Phila) — PubMed:PMID38524971 | DOI:10.1016/j.case.2023.12.010 — OMIA Phene_Article / Article - 1995. Palliative treatment of tetralogy of fallot in a dog using a ptfe (polytetrafluorethylene) vascular graft [German]. Schweizer Archiv fur Tierheilkunde — PubMed:PMID7494990 — OMIA Phene_Article / Article - 1997. Retrospective study of congenital heart defects in 151 dogs. Journal of Small Animal Practice — PubMed:PMID9097239 — OMIA Phene_Article / Article - 1998. Open-heart correction of tetralogy of fallot in an acyanotic dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1999. Balloon dilation of right ventricular outflow tract in a dog with tetralogy of Fallot. Journal of Veterinary Medical Science — PubMed:PMID10535516 — OMIA Phene_Article / Article - 2001. Open surgical repair of tetralogy of Fallot in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID11700706 — OMIA Phene_Article / Article - 2009. Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). J Anim Breed Genet — PubMed:PMID19630881 | DOI:10.1111/j.1439-0388.2008.00776.x — OMIA Phene_Article / Article - 2016. Epidemiological, clinical, and echocardiographic features and survival times of dogs and cats with tetralogy of Fallot: 31 cases (2003-2014). J Am Vet Med Assoc — PubMed:PMID27700266 | DOI:10.2460/javma.249.8.909 — OMIA Phene_Article / Article - 2024. Complex tetralogy of Fallot in an acyanotic adult dog. CASE (Phila) — PubMed:PMID38524971 | DOI:10.1016/j.case.2023.12.010 — OMIA Phene_Article / Article - 1995. Palliative treatment of tetralogy of fallot in a dog using a ptfe (polytetrafluorethylene) vascular graft [German]. Schweizer Archiv fur Tierheilkunde — PubMed:PMID7494990 — OMIA Phene_Article / Article - 1997. Retrospective study of congenital heart defects in 151 dogs. Journal of Small Animal Practice — PubMed:PMID9097239 — OMIA Phene_Article / Article - 1998. Open-heart correction of tetralogy of fallot in an acyanotic dog. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1999. Balloon dilation of right ventricular outflow tract in a dog with tetralogy of Fallot. Journal of Veterinary Medical Science — PubMed:PMID10535516 — OMIA Phene_Article / Article - 2001. Open surgical repair of tetralogy of Fallot in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID11700706 — OMIA Phene_Article / Article - 2009. Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). J Anim Breed Genet — PubMed:PMID19630881 | DOI:10.1111/j.1439-0388.2008.00776.x — OMIA Phene_Article / Article - 2016. Epidemiological, clinical, and echocardiographic features and survival times of dogs and cats with tetralogy of Fallot: 31 cases (2003-2014). J Am Vet Med Assoc — PubMed:PMID27700266 | DOI:10.2460/javma.249.8.909 — OMIA Phene_Article / Article - 2024. Complex tetralogy of Fallot in an acyanotic adult dog. CASE (Phila) — PubMed:PMID38524971 | DOI:10.1016/j.case.2023.12.010 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:187500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187501 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239711 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187501 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239711 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187501 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239711 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187501 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239711 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:187501 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239711 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [353]

Kerry Blue Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Kerry Blue Terrier (Dog) [68]

King Charles Spaniel — The disease is also called Arnold Chiari malformation; caudal occipital malformation syndrome; occipital hypoplasia; hindbrain herniation; Chiari-like malformation (hereditary; OMIA-verified breed predisposition)

Breed: King Charles Spaniel (Dog) [58]

Komondor — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Komondor (Dog) [68]

Koolie — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Koolie (Dog) [69]

Kromfohrlander — Disease is also called Type 1 von Willebrand Disease, vWDI, angiohaemophillia, von Willebrand disorder, von Willebrand factor deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Kromfohrlander (Dog) [255]

Kuvasz — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Kuvasz (Dog) [68]

Labradoodle — Progressive rod-cone degeneration, PRCD-related (hereditary; OMIA-verified breed predisposition)

Breed: Labradoodle (Dog) [86]

Labrador Retriever — Calvarial hyperostotic syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Labrador Retriever (Dog) [91]

Labrador Retriever — Hip Dysplasia (hereditary; OMIA-verified breed predisposition)

Associations among exercise duration, lameness severity, and hip joint range of motion in Labrador Retrievers with hip dysplasia. [298]

Housing- and exercise-related risk factors associated with the development of hip dysplasia as determined by radiographic evaluation in a prospective cohort of Newfoundlands, Labrador Retrievers, Leonbergers, and Irish Wolfhounds in Norway. [298]

Quantitative genetics of traits associated with hip dysplasia in a canine pedigree constructed by mating dysplastic Labrador Retrievers with unaffected Greyhounds [298]

Genome wide analysis indicates genes for basement membrane and cartilage matrix proteins as candidates for hip dysplasia in labrador retrievers. [298]

Genome wide association study in Swedish Labrador retrievers identifies genetic loci associated with hip dysplasia and body weight. [298]

Estimation of genetic population variables for six radiographic criteria of hip dysplasia in a colony of Labrador Retrievers [298]

Retrospective analysis for genetic improvement of hip joints of cohort labrador retrievers in the United States: 1970-2007. [298]

Labrador Retriever — Macular corneal dystrophy (hereditary; OMIA-verified breed predisposition)

Clin feat: Busse et al. (2019): Labrador Retrievers affected by MCD were presented between the age of 4.5 and 6 years of age with a history of cloudy eyes and/or visual impairment. Findings on ophthalmic examination included a diffuse haze of the corneal stroma and multiple, well-demarcated, off-white to yellow-brown, punctate corneal opacities heterogeneous in size. Corneal vascularization developed in most dogs as the disease progressed. Disease progression was associated with increased density of the corneal haze as well as increased number and size of the focal opacities and dogs developed significant visual impairment. Spectral domain-optical coherence tomography revealed multifocal hyper-reflective regions within the stroma. In vivo confocal microscopy revealed marked alterations in reflectivity throughout the entire stroma. Normal keratocytes could not be identified in affected areas. [354]

Pathology: Busse et al. (2019): Histopathology showed stromal collagen fibers separated by acidophilic granular material on hematoxylin and eosin stain. The material stained with periodic acid-Schiff and colloidal iron stain but not with Masson trichrome stain, confirming the accumulation of glycosaminoglycans. On electron microscopic ultrastructural examination, keratocytes presented with vacuolated rough endoplasmic reticulum and multiple electron dense cytoplasmic inclusions. In areas keratocytes appeared ruptured, with cell organelles and proteinaceous material grouped together between collagen fibers. [354]

Prevalence: As reported by Tetas Pont et al. (2016), The mutant allele was present in the unrelated LR cohort [of 89 unrelated Labrador Retrievers with unknown clinical status] at a frequency of 0.017, suggesting carrier and affection rates of 3.3% and 0.028%, respectively. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: CHST6 (Entrez Gene ID 388254349) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: By sequencing the most likely comparative candidate gene (CHST6) in one affected and one normal Labrador Retriever, Tetas Pont et al. (2016) identified the likely causal mutation as c.814C>A; p.R272S. Supporting evidence was provided by evidence that "six LR affected with MCD were homozygous for the mutant allele, while 140/151 control LR were homozygous for the wild-type allele and 11/151 were… Evidence (references) - 2016. A carbohydrate sulfotransferase-6 (CHST6) gene mutation is associated with macular corneal dystrophy in Labrador Retrievers. Vet Ophthalmol — PubMed:PMID26585178 | DOI:10.1111/vop.12332 — OMIA Phene_Article / Article - 2013. Case report: A form of macular corneal dystrophy in a Labrador retriever. Abstract presentation in European College of Veterinary Ophthalmologists — OMIA Phene_Article / Article - 2019. Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study. Vet Ophthalmol — PubMed:PMID30701649 | DOI:10.1111/vop.12596 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:217800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:605294 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [354]

Labrador Retriever — Muscular dystrophy-dystroglycanopathy, LARGE1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Four affected Labrador retriever puppies. were evaluated for small stature, poor weight gain, bow legged stance, poor suckling, and weakness. In the first week 4 pups required supplemental tube feeding due to poor weight gain, and difficulties in prehension of food and swallowing. One of these 4 pups died during the first week and another pup was euthanized at 2.5 weeks of age. At the time of euthanasia at 6 weeks of age, body weights of the two remaining affected pups were half that of the normal pups (1.3 and 1.4 kg compared to 2.7–2.9 kg).. Serum CK activities were markedly elevated in all affected pups ranging from 10,587 to 23,638 IU/L (reference 59–895 IU/L). (Shelton et al. 2021) [355]

Pathology: Histopathology of skeletal muscle cryosections. showed degenerative and regenerative changes consistent with a dystrophic phenotype (Shelton et al. 2021). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388243435 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2021. Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation. Neuromuscul Disord — PubMed:PMID34654610 | DOI:10.1016/j.nmd.2021.07.016 — OMIA Phene_Article / Article - 2012. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science — PubMed:PMID22223806 | DOI:10.1126/science.1214115 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:603590 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613154 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608840 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [355]

Labrador Retriever — Oculoskeletal dysplasia 1 (hereditary; OMIA-verified breed predisposition)

Summary: Oculoskeletal dysplasia 1 (osd1, drd1) is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts. See also [OMIA:001523-9615]: Oculoskeletal dysplasia 2 [356]

Clin feat: Signs may be noticeable as early as 4 to 6 weeks of age (Carrig et al., 1997; Goldstein et al., 2010). Affected dogs have short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna, which subsequently develop curvature with varus/valgus deformities (Carrig et al., 1997). In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus. Some, but not all, carriers have vitreal stands, focal retinal folds or plaques of retinal dysplasia. [356]

Pathology: There is a range of ocular defects, but the most consistent findings are cortical equatorial cataracts and vitreal liquefaction (Goldstein et al, 2010). Histologic lesions in the growth plates included disorganization of cellular columns with abnormal extent of calcification, great variability in chrondrocyte shape, and premature cellular condensation in the maturation zone (Farnum et al., 1992). [356]

Prevalence: The frequency of the likely causal variant in the overall Labrador retriever population is estimated at 4% (Goldstein et al., 2010). Stavinohova et al. (2019): the c.700C>T variant was genotyped in a total of 1,232 dogs. All seven affected NID [Northern Inuit Dogs] were homozygous for the variant allele (T/T), while 31/116 OSD-unaffected NID were heterozygous for the variant (C/T) and 85/116 were homozygous for the wildtype allele (C/C)... A subset of 56 NID unrelated at the parent level were analysed to determine an allele frequency of 0.08, estimating carrier and affected rates to be 15% and 0.6% respectively in NID. All 1,109 non-NID were C/C, suggesting the variant is rare or absent in other breeds. [356]

Control: Parents and siblings of affected dogs should be DNA tested. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26648406 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The likely causal variant in Labradors is an insertion of a guanine residue in exon 1 in the COL3 domain of COL9A3, causing an amino acid codon frameshift and a premature stop codon. Reduced RNA expression is found in affected retinas (Goldstein et al., 2010). It is currently thought that the causative mutation leads to collagen absence or deficiency in cartilage and ocular collagen, with a larger… Evidence (references) - 1977. Retinal dysplasia associated with skeletal abnormalities in Labrador Retrievers. J Am Vet Med Assoc — PubMed:PMID830631 — OMIA Phene_Article / Article - 1992. Ocular-Chondrodysplasia in Labrador Retriever Dogs - A Morphometric and Electron Microscopical Analysis. Calcified Tissue International — PubMed:PMID1525714 — OMIA Phene_Article / Article - 1988. Inheritance of associated ocular and skeletal dysplasia in Labrador retrievers. J Am Vet Med Assoc — PubMed:PMID3204050 — OMIA Phene_Article / Article - 2010. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome — PubMed:PMID20686772 | DOI:10.1007/s00335-010-9276-4 — OMIA Phene_Article / Article - 2000. Cloning and expression of type II collagen mRNA: evaluation as a candidate for canine oculo-skeletal dysplasia. Gene — PubMed:PMID11024291 | DOI:10.1016/s0378-1119(00)00324-3 — OMIA Phene_Article / Article - 2002. Cloning and characterization of opticin cDNA: evaluation as a candidate for canine oculo-skeletal dysplasia. Gene — PubMed:PMID11814684 | DOI:10.1016/s0378-1119(01)00842-3 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 1995. Oculoskeletal dysplasias in Samoyed and Labrador retriever dogs: nonallelic disorders akin to Stickler-like syndromes affecting humans. 2nd international DOGMAP meeting, Cambridge — OMIA Phene_Article / Article - 2019. Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog. PLoS One — PubMed:PMID31415586 | DOI:10.1371/journal.pone.0220761 — OMIA Phene_Article / Article - 2020. Oculo-skeletal dysplasia in five Labrador Retrievers. Vet Ophthalmol — PubMed:PMID31595625 | DOI:10.1111/vop.12715 — OMIA Phene_Article / Article - 2020. Focal/multifocal and geographic retinal dysplasia in the dog-In vivo retinal microanatomy analyses. Vet Ophthalmol — PubMed:PMID31746146 | DOI:10.1111/vop.12725 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:154780 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120270 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [356]

Labrador Retriever — Paw pad hyperkeratosis, GJB6-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Rietmann et al. (2026) reported At approximately 18 months old, the patient was presented to a veterinarian due to an abnormal growth on one of her outer toes. Upon further examination by a veterinarian, excessive skin growth was observed present on all four paw pads and most of the digital pads to some degree. Rietmann et al. (2026) also reported At age approximately 16 months, the owner noticed a decreased or inappropriate reaction to commands or verbal clues and expressed suspicion that the patient may have deafness or impaired hearing function. No further investigation was pursued and to this date no clear diagnosis was made. [357]

Pathology: Histological examination revealed a stratum corneum expanded by diffuse moderate to severe orthokeratotic and occasional mild parakeratotic hyperkeratosis arranged in spires or villous-like projections. The epidermis was mildly hyperplastic, and there were small numbers of perivascular lymphocytes, plasma cells, and mast cells in the superficial dermis. (Rietmann et al. 2026). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299086 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Rietmann et al. (2026) sequenced the whole genome of an affected Labrador Retriever. Comparison of the whole genome sequencing data to 1664 unaffected control dogs revealed 12 private protein changing variants. Only one of them resided in one of 68 known functional candidate genes that were considered. This was a private de novo heterozygous missense variant in the GJB6 gene, whi… Evidence (references) - 2026. GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. Anim Genet — PubMed:PMID41601192 | DOI:10.1002/age.70075 — OMIA Phene_Article / Article - 2013. Hearing is normal without connexin30. J Neurosci — PubMed:PMID23303923 | DOI:10.1523/JNEUROSCI.4240-12.2013 — OMIA Phene_Article / Article - 2026. Correction to "GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis". Anim Genet — PubMed:PMID41707051 | DOI:10.1002/age.70079 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:604418 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:129500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [357]

Labrador Retriever — Retinal atrophy - generalized; retinal atrophy, ABCA4-related (hereditary; OMIA-verified breed predisposition)

Disorder: Retinal atrophy - generalized; retinal atrophy, ABCA4-related [358]

Clin feat: Mäkeläinen et al. (2019): The affected sib-pair... was visually impaired under both daylight and dimlight conditions when examined at 10 years of age. Their pupils were dilated under daylight conditions and pupillary light and dazzle reflexes were abnormal, whereas menace responses were present. On indirect ophthalmoscopy, the tapetal reflectivity varied between normal to grayish hyporeflection when the indirect ophthalmoscopy lens was tilted slightly back and forth, both in the visual streak, as well as in the more peripheral parts of the tapetal fundus in both eyes of the affected dogs. The visual streak is an area of high photoreceptor cell density in the canine retina, located superior to the optic disc and extending horizontally from the nasal to the temporal region.... Furthermore, a mild to moderate vascular attenuation was observed, as seen in the fundus photograph, taken at the age of 10 years, of the affected male (LAB4) and compared to a fundus photograph of an unaffected, age-matched Labrador retriever dog (LAB27).... These ophthalmoscopic findings were symmetrical between the eyes of the affected dogs, diffusely spread over the tapetal fundus and not strictly confined to the visual streak or area centralis. Ekesten et al. (2022) studied retinal appearance and morphology in Labrador retrievers (LRs) heterozygous and homozygous for an ABCA4 loss-of-function mutation.. Abnormal appearance and morphology in the fovea equivalent are present in juvenile ABCA4InsC/InsC. In the older affected LRs, the visual streak and then the peripheral retina also develop an abnormal appearance. Vision deteriorates slowly, but some vision is retained throughout life. Older heterozygotes may show a mild retinal phenotype but no obvious visual impairment. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: abcr (Entrez Gene ID 44463606) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Mäkeläinen et al. (2019): "To study a novel form of retinal degeneration in Labrador retriever dogs with clinical signs indicating cone and rod degeneration, we used whole-genome sequencing [WGS] of an affected sib-pair and their unaffected parents. A frameshift insertion in the ATP binding cassette subfamily A member 4 (ABCA4) gene (c.4176insC), leading to a premature stop codon in exon 28 (p.F13… Evidence (references) - 2010. Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies. Mol Genet Genomics — PubMed:PMID20661590 | DOI:10.1007/s00438-010-0560-5 — OMIA Phene_Article / Article - 2004. Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis — PubMed:PMID15064680 — OMIA Phene_Article / Article - 2019. An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. PLoS Genet — PubMed:PMID30889179 | DOI:10.1371/journal.pgen.1007873 — OMIA Phene_Article / Article - 2006. Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs. J Negat Results Biomed — PubMed:PMID17134500 | DOI:10.1186/1477-5751-5-19 — OMIA Phene_Article / Article - 2022. Abnormal appearance of the area centralis in Labrador Retrievers with an ABCA4 loss-of-function mutation. Transl Vis Sci Technol — PubMed:PMID35201338 | DOI:10.1167/tvst.11.2.36 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article - 2026. Genotype frequency of Stargardt disease in Labrador Retrievers in Japan. J Vet Med Sci — PubMed:PMID42203465 | DOI:10.1292/jvms.25-0501 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:248200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601691 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [358]

Labrador Retriever — Retinal atrophy, progressive, GTPBP2-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Murgiano et al. (2025) report 3 affected Labrador retrievers from the same litter with progressive retinal atrophy with onset of clinical signs between 7 month and 1.5 years. Two of the dogs developed Addison’s disease.; one of these later developed diabetes mellitus and died from a hypoglycemic event. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298983 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Murgiano et al. (2025): "Homozygosity mapping and whole-genome sequencing [of 2 affected Labrador retrievers and their unaffected parents] detected a homozygous 3-bp deletion in the coding region of GTPBP2, located in CFA12 (NC_049233.1:12,264,348_12,264,350del, c.1606_1608del, p.Ala536del)." Evidence (references) - 2025. GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy. Sci Rep — PubMed:PMID39971978 | DOI:10.1038/s41598-025-89446-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:617988 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607434 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [359]

Labrador Retriever — Skeletal dysplasia 2 (hereditary; OMIA-verified breed predisposition)

Disorder: Skeletal dysplasia 2 [360]

Summary: Skeletal dysplasia 2 (SD2) is a mild form of disproportionate dwarfism in Labrador Retrievers. Affected dogs have short legs and their shoulder height is reduced by ~6 cm compared to non-affected dogs. [360]

Clin feat: The SD2 phenotype is characterized by short legs with normal body length and width. In most cases the forelegs are slightly more affected than the hind legs. The international breed standard calls for shoulder heights of 56 cm–57 cm in male and 54 cm–56 cm in female Labrador Retrievers, respectively. The shoulder height in affected animals is reduced by ~6 cm on average. However, it must be noted that shoulder height is only an imperfect proxy for the SD2 phenotype as shoulder height is a complex trait with significant variance due to genetic and environmental factors. According to breeders' reports SD2-affected dogs are not particurlarly prone to secondary joint degeneration or any other health problems apart from the disproportionate dwarfism. [360]

Prevalence: SD2 occurs predominantly in so called working lines of Labrador Retrievers. Frischknecht et al (2013) reported a carrier frequency of 12% in the European Labrador Retriever population at the time of mutation discovery. [360]

Labrador Retriever — Type II fiber deficiency; Autosomal recessive muscular dystrophy; Hereditary myopathy of Labrador retrievers (HMLR) (hereditary; OMIA-verified breed predisposition)

Disorder: Type II fiber deficiency; Autosomal recessive muscular dystrophy; Hereditary myopathy of Labrador retrievers (HMLR) [361]

Clin feat: Centronuclear myopathy in Labradors presents with weakness, hypotonia, paresis and progressive skeletal muscle atrophy from at about 1 month of age (Walmsley et al., 2016). In rare cases, clinical signs may not become apparent until as late as 6 months of age. Affected dogs have abnormal deep tendon reflexes. Clinical signs become initially increasingly severe but may stabilise at approximately one year of age (Blot et al., 2002). There are a range of clinical presentations, ranging from mild disease with reduced exercise tolerance and gait abnormalities to more severe presentations involving obvious skeletal muscle atrophy and collapse. Dogs can have reduced muscle tone of the oesophagus leading to difficulties swallowing and a risk of sudden death, which can be reduced by gravity-assisted feeding (McKerrel Braund, 1987). Clinical signs may be exacerbated by exposure to cold weather (McKerrel Braund 1987). [361]

Pathology: The skeletal muscle of affected dogs exhibits a number of characteristic changes including variation in fibre size, presence of angular fibres, altered oxidative staining, a predominance of type 1 myofibres, fibrosis and centralisation of nuclei (Walmsley et al., 2016). [361]

Prevalence: Maurer et al. (2012) conducted a comprehensive world-wide survey by genotyping 7,426 Labradors from 18 countries for the PTPLA mutant reported by Pelé et al. (2005). All 80 affected dogs from 8 countries were homozygous for the same mutant allele, and none of the 1.172 heterozygous dogs from 13 countries was affected. The highest % of carriers were found in the UK (19%), the USA (13%) and Canada (11,5%). The UK estimate is similar to the UK estimate of 22%, reported by Owczarek-Lipska et al. (2011). Maurer et al. (2012) concluded that the mutant allele resulted from a single and recent mutational event that may have rapidly disseminated through the extensive use of popular sires. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: PTPLA (Entrez Gene ID 574011) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 1976. A muscle disorder of Labrador Retrievers characterized by deficiency of type II muscle fibers. Journal of the American Veterinary Medical Association — PubMed:PMID977449 — OMIA Phene_Article / Article - 2002. Genetic aspects of labrador retriever myopathy. Res Vet Sci — PubMed:PMID12443679 | DOI:10.1016/s0034-5288(02)00034-6 — OMIA Phene_Article / Article - 2003. The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. Human Genetics — PubMed:PMID12884002 | DOI:10.1007/s00439-003-0984-7 — OMIA Phene_Article / Article - 1987. Electromyographic evaluation of adult Labrador retrievers with type-II muscle fiber deficiency. Am J Vet Res — PubMed:PMID3662204 — OMIA Phene_Article / Article - 1986. Hereditary myopathy in Labrador retrievers: a morphologic study. Vet Pathol — PubMed:PMID3750734 — OMIA Phene_Article / Article - 1988. Muscle hemodynamics in hereditary myopathy of Labrador retrievers. Am J Vet Res — PubMed:PMID2458692 — OMIA Phene_Article / Article - 2005. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet — PubMed:PMID15829503 | DOI:10.1093/hmg/ddi151 — OMIA Phene_Article / Article - 1996. Inherited myopathy in a litter of Labrador retrievers. Can Vet J — PubMed:PMID8640649 — OMIA Phene_Article / Article - 2011. Frequency of the allelic variant of the PTPLA gene responsible for centronuclear myopathy in Labrador Retriever dogs as assessed in Italy. J Vet Diagn Invest — PubMed:PMID21217042 — OMIA Phene_Article / Article - 2011. [Frequency of gene defects in selected European retriever populations]. Schweiz Arch Tierheilkd — PubMed:PMID21866517 | DOI:10.1024/0036-7281/a000236 — OMIA Phene_Article / Article - 2002. Phenotypic description of a canine centronuclear myopathy. Journal of Neurological Science — OMIA Phene_Article / Article - 1984. Generalised muscle weakness in the Labrador retriever. Vet Rec — PubMed:PMID6495580 | DOI:10.1136/vr.115.11.276 — OMIA Phene_Article / Article - (5 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:610467 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:619967 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [361]

Labrador Retriever — lethal brachycephalic-like facial dysmorphia (hereditary; OMIA-verified breed predisposition)

Disorder: lethal brachycephalic-like facial dysmorphia [362]

Clin feat: Dierks et al. (2017): Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival. [362]

Pathology: Dierks et al. (2017): Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2020. Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers.. Anim Genet — PubMed:PMID31691328 | DOI:10.1111/age.12875 — OMIA Phene_Article / Article - 2017. Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies.. Vet J — PubMed:PMID28190494 | DOI:10.1016/j.tvjl.2017.01.004 — OMIA Phene_Article / Article - 2020. Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers. Anim Genet — PubMed:PMID31691328 | DOI:10.1111/age.12875 — OMIA Phene_Article / Article - 2017. Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies. Vet J — PubMed:PMID28190494 | DOI:10.1016/j.tvjl.2017.01.004 — OMIA Phene_Article / Article - 2020. Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers. Anim Genet — PubMed:PMID31691328 | DOI:10.1111/age.12875 — OMIA Phene_Article / Article - 2017. Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies. Vet J — PubMed:PMID28190494 | DOI:10.1016/j.tvjl.2017.01.004 — OMIA Phene_Article / Article - 2020. Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers. Anim Genet — PubMed:PMID31691328 | DOI:10.1111/age.12875 — OMIA Phene_Article / Article - 2017. Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies. Vet J — PubMed:PMID28190494 | DOI:10.1016/j.tvjl.2017.01.004 — OMIA Phene_Article / Article - 2020. Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers. Anim Genet — PubMed:PMID31691328 | DOI:10.1111/age.12875 — OMIA Phene_Article / Article - 2017. Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies. Vet J — PubMed:PMID28190494 | DOI:10.1016/j.tvjl.2017.01.004 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:303600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:303600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:303600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:303600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:303600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [362]

Lagotto Romagnolo — Autosomal dominant polycystic kidney disease (ADPKD); Bull terrier polycystic kidney disease (BTPKD); renal cystic disease (hereditary; OMIA-verified breed predisposition)

Breed: Lagotto Romagnolo (Dog) [202]

Lagotto Romagnolo — Benign familial juvenile epilepsy; remitting focal epilepsy; benign juvenile epilepsy syndrome; juvenile epilepsy (hereditary; OMIA-verified breed predisposition)

Disorder: Benign familial juvenile epilepsy; remitting focal epilepsy; benign juvenile epilepsy syndrome; juvenile epilepsy [363]

Clin feat: BFJE is characterised by juvenile-onset seizures beginning at five to nine weeks of age and typically spontaneously remit by thirteen weeks of age (Jokinen et al., 2007). Affected puppies exhibit generalised tremor, ataxia and stiffness during seizures and severe cases show neurological signs such as ataxia and hypermetria between epileptic episodes (Jokinen et al., 2007). Seizures can occur at any time of the day and the puppy may or may not be conscious during the episode (Jokinen et al., 2007). Following remission, BFJE-affected puppies often show behavioural abnormalities in adulthood, including increased inattention and excitability (Jokinen et al., 2015). On rare occasions, the patient may experience seizures years after remission, or develop progressive neurological disorders that eventually require euthanasia (Jokinen et al., 2015). BFJE puppies show epileptiform activity on electroencephalogram, both during and in between epileptic episodes. [363]

Pathology: Affected dogs have a relatively small cerebellum and intracytoplasmic inclusion bodies in cerebellar Purkinje cells (Jokinen et al., 2007). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3486092 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By sequencing the most likely of 9 positional candidate genes (see Mapping section), Seppälä et al. (2011), part of the LUPA consortium, discovered that this type of epilepsy in the Lagotto romagnolo breed is due to a nonsense mutation (c.1552A>T (p.K518X)) in the gene for LGI2. Noting that mutations in this gene have not yet been reported to be causative of epilepsy in humans, but that mutations … Evidence (references) - 2007. Benign familial juvenile epilepsy in Lagotto Romagnolo dogs. J Vet Intern Med — PubMed:PMID17552452 | DOI:10.1892/0891-6640(2007)21[464:bfjeil]2.0.co;2 — OMIA Phene_Article / Article - 2011. LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet — PubMed:PMID21829378 | DOI:10.1371/journal.pgen.1002194 — OMIA Phene_Article / Article - 2013. Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc — PubMed:PMID23683021 | DOI:10.2460/javma.242.11.1549 — OMIA Phene_Article / Article - 2013. Inherited epilepsy in dogs. Top Companion Anim Med — PubMed:PMID24070682 | DOI:10.1053/j.tcam.2013.07.001 — OMIA Phene_Article / Article - 2016. Canine versus human epilepsy: are we up to date?. J Small Anim Pract — PubMed:PMID26931499 | DOI:10.1111/jsap.12437 — OMIA Phene_Article / Article - 2015. Behavioral abnormalities in Lagotto Romagnolo dogs with a history of benign familial juvenile epilepsy: A long-term follow-up study. J Vet Intern Med — PubMed:PMID25945683 | DOI:10.1111/jvim.12611 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article - 2024. Neuronal cytoplasmic inclusion bodies in the brain of Lagotto Romagnolo dogs: A qualitative and quantitative histologic evaluation. Vet Pathol — PubMed:PMID39651629 | DOI:10.1177/03009858241300555 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608301 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [363]

Lagotto Romagnolo — Lagotto storage disease (hereditary; OMIA-verified breed predisposition)

Disorder: Lagotto storage disease [364]

Clin feat: As reported by Kyöstilä et al. (2015), The typical clinical presentation in affected dogs was progressive ataxia. Neurological examination revealed a mild to severe cerebellar ataxia... The majority of dogs had normal paw positioning responses when postural reactions were tested but showed delayed onset of correction in hopping reactions. Spinal reflexes were normal except for decreased or absent patellar reflexes in five dogs. Menace reaction was decreased in eight dogs, and exaggerated in one dog. Positional nystagmus was visible in four dogs during the eurological examination. Magnetic resonance imaging of the brain was performed in 11 affected dogs. The principal findings included signs of mild atrophy of the cerebellum in nine dogs and of the forebrain in six dogs. In five dogs, lateral ventricles were enlarged. A small corpus callosum was detected in three affected dogs when compared to age matched LRs. In two affected dogs, the brain imaging was unremarkable. [364]

Pathology: As also reported by Kyöstilä et al. (2015), Histological examination revealed widespread swelling and clear vacuolization of the neuronal cytoplasm, diffusely affecting the central and peripheral nervous system. The cytoplasmic vacuolization varied from fine vesiculation to large confluent vacuoles. Syrjä et al. (2017) investigated the cellular alterations in detail and found that basal, but not induced autophagy, is altered in homozygous mutant cells from affected dogs. In a study aimed to clarify the origin of the limiting membrane of the accumulating vacuoles and determine whether altered basal autophagy affects the extracellular release of vesicles in cells from diseased dogs Syrjä et al. (2020) concluded that An increased release of extracellular vesicles may serve as a compensatory mechanism in disposal of intracellular proteins during dysfunctional basal autophagy in this spontaneous disease. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388251083 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Missense mutation: c.1288G>A; p.A430T; Chr20:50,618,958C>T (CanFam 3.1 assembly) (Kyöstilä et al., 2015) Evidence (references) - 2015. A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. PLoS Genet — PubMed:PMID25875846 | DOI:10.1371/journal.pgen.1005169 — OMIA Phene_Article / Article - 2017. Basal autophagy is altered in Lagotto Romagnolo dogs with an ATG4D mutation. Vet Pathol — PubMed:PMID28583040 | DOI:10.1177/0300985817712793 — OMIA Phene_Article / Article - 2020. Altered basal autophagy affects extracellular vesicle release in cells of Lagotto Romagnolo dogs with a variant ATG4D. Vet Pathol — PubMed:PMID33016245 | DOI:10.1177/0300985820959243 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2024. Last but not least: emerging roles of the autophagy-related protein ATG4D. Autophagy — PubMed:PMID38920354 | DOI:10.1080/15548627.2024.2369436 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:611340 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [364]

Lancashire Heeler — Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta (hereditary; OMIA-verified breed predisposition)

Breed: Lancashire Heeler (Dog) [365]

Disorder: Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta [365]

Summary: Hytönen et al. (2025) report the identification of a homozygous nonsense variant in the ITPR3 gene in Lancashire Heeler dogs, presenting with a severe developmental enamel defect and reduced nerve conduction velocity. [365]

Clin feat: Hytönen et al. (2025): affected Lancashire Heeler dogs. were originally identified by abnormal enamel in the permanent teeth, including severe yellow to brown discoloration, enamel hypoplasia and abrasion leading to exposure of dentin.. The enamel defects were already apparent upon tooth eruption.. Two out of three dogs had deformity detected in their front limbs, i.e. outward rotation of front limbs from the elbow joint.. Abnormal electromyographic findings consistent with demyelinating neuropathy were detected in all three examined dogs and consisted of fibrillation potentials and positive sharp waves occurring predominantly in distal appendicular limb muscles.. Fibrillation potentials were also detected in paraspinal musculature. Reduced motor nerve conduction velocities and decreased compound muscle action potential (CMAP) amplitudes and increased CMAP duration were observed in two out of three affected dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298977 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Hytönen et al. (2025) "performed whole-exome sequencing (WES) on two affected dogs ... and whole-genome sequencing (WGS) on one affected dog" and idendified a likely causal variant: g.12:3214076C>T; XM_038553756.1:5002C>T; XP_038409684:p.Q1668X. Evidence (references) - 2025. IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta. PLoS Genet — PubMed:PMID39804930 | DOI:10.1371/journal.pgen.1011328 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:147267 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:620111 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [365]

Landseer — CalDAG-GEFI thrombopathia; CalDAG-GEFI platelet disorder (hereditary; OMIA-verified breed predisposition)

Breed: Landseer (Dog) [87]

Landseer — Muscular Dystrophy (hereditary; OMIA-verified breed predisposition)

Disorder: Muscular Dystrophy [366]

Clin feat: Generalized progressive muscle weakness is noticed very early in life. Due to the severity of the disease affected dogs are euthanized at 5-15 months of age (Steffen et al. 2015). Brands et al. (2020) present the long-term follow up characterization of the clinical and pathological phenotype of the Landseer dogs [homozgous for the p.Glu97* variant] and a comparative analysis between dogs and humans in order to provide the Landseer dog as a useful model for human UCMD. [366]

Pathology: All affected dogs showed pathological variation in muscle fiber size and most of the fibers were round to anisomorphic instead of having a (physiological) polygonal shape. Many small fibres were scattered throughout the biopsies, along with some hypercontracted fibres. Sporadically invading phagocytes grouped around degenerating fibers. Staining for acidic phosphatase showed an increase of activity, indicating degeneration to necrosis in a large number of fibres. Some biopsies correlated to an advanced stage of disease with distinct proliferation of the endomysial connective tissue and an increase of adipose tissue. These findings demonstrate different stages of muscular destruction with compensatory hypertrophy and replacement of lost fibers by connective tissue and fat cells. The histhopathological findings were typical for a muscular dystrophy. However, relatively normal immunohistochemistry findings with an anti-dystrophin antibody clearly showed that the muscular dystrophy in the Landseer dogs is different from the Duchenne/Becker type. (Steffen et al. 2015) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388199166 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2015. A nonsense variant in COL6A1 in Landseer dogs with muscular dystrophy. G3 (Bethesda) — PubMed:PMID26438297 | DOI:10.1534/g3.115.021923 — OMIA Phene_Article / Article - 2013. Sarcolemmal specific collagen VI deficient myopathy in a Labrador Retriever. J Vet Intern Med — PubMed:PMID24147807 | DOI:10.1111/jvim.12224 — OMIA Phene_Article / Article - 2020. COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy. Muscle Nerve — PubMed:PMID33382107 | DOI:10.1002/mus.27162 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:254090 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120220 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [366]

Lapponian Herder — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Lapponian Herder (Dog) [69]

Large Munsterlander — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Large Munsterlander (Dog) [94]

Leonberger — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified breed predisposition)

Breed: Leonberger (Dog) [330]

Leonberger — Polyneuropathy, GJA9-related (hereditary; OMIA-verified breed predisposition)

Pathology: Becker et al. (2017): Resin sections from the peroneal nerve were qualitatively evaluated from 5 Leonberger dogs with PN [polyneuropathy] and the GJA9 variant. The prominent pathologic abnormality was variably severe nerve fiber loss resulting from chronic axonal degeneration. Large nerve fiber loss was most prominent with an increased population of small caliber nerve fibers. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389414795 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Becker et al. (2017) identified a likely causal variant as a "GJA9 variant (CanFam3.1: chr15.3863,524_3863,525delAG) [which] results in a frameshift (ENSCAFT00000038555: c.1107_1108delAG) and premature stop codon (F1PSG8_CANLF: p.Glu370AsnfsTer12) that is predicted to truncate almost half of the intracellular C-terminus of the encoded connexin." Evidence (references) - 2011. Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J — PubMed:PMID20638305 | DOI:10.1016/j.tvjl.2010.06.003 — OMIA Phene_Article / Article - 2017. A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics — PubMed:PMID28841859 | DOI:10.1186/s12864-017-4081-z — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:611923 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [367]

Leonberger — polyneuropathy (hereditary; OMIA-verified breed predisposition)

Disorder: polyneuropathy [368]

Summary: An inherited polyneuropathy (PN) observed in Leonberger and Saint Bernard dogs has clinical similarities to a genetically heterogeneous group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans. The disorder is a severe, juvenile-onset, chronic, progressive, and mixed PN, characterized by exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs, as well as inspiratory stridor and dyspnea. [368]

Clin feat: As summarised by Ekenstedt et al. (2014), this disorder in the Leonberger breed is characterized by generalized weakness, hypotonia, and muscle atrophy secondary to denervation, particularly of the pelvic limbs.... Affected dogs frequently present with a high-stepping pelvic limb gait (pseudo-hypermetria of the hock)..., decreased or absent tendon reflexes, and changes associated with degeneration of the recurrent laryngeal nerve, including inspiratory stridor resulting from laryngeal paralysis. The age-of-onset of clinical signs can vary from 1 year up to 11 years of age; however, the juvenile-onset patients typically have a more severe and rapidly progressing course of disease. Peroneal nerve biopsies show decreased myelinated fiber density resulting from axonal degeneration and endoneurial fibrosis indicative of chronic nerve fiber loss. Cranial tibial muscle biopsies demonstrate neurogenic atrophy and fatty replacement of muscle fibers indicative of chronic denervation. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388304604 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Of the two genes in the candidate region (see mapping section), one (ARHGEF10) was a comparative candidate (see OMIM link above). Sequencing of this gene in affecteds and controls enabled Ekenstedt et al. 92014) to identify "a 10 bp deletion in affected dogs that removes four nucleotides from the 3′-end of exon 17 and six nucleotides from the 5′-end of intron 17 (c.1955_1958+6delCACGGTGAGC). This … Evidence (references) - 2003. Inherited polyneuropathy in Leonberger dogs: a mixed or intermediate form of Charcot-Marie-Tooth disease?. Muscle & Nerve — PubMed:PMID12661049 | DOI:10.1002/mus.10350 — OMIA Phene_Article / Article - 2011. Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J — PubMed:PMID20638305 | DOI:10.1016/j.tvjl.2010.06.003 — OMIA Phene_Article / Article - 2014. An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs. PLoS Genet — PubMed:PMID25275565 | DOI:10.1371/journal.pgen.1004635 — OMIA Phene_Article / Article - 2011. Inherited polyneuropathy in Leonberger dogs. J Vet Intern Med — PubMed:PMID21985135 | DOI:10.1111/j.1939-1676.2011.00785.x — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608236 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608136 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [368]

Lhasa Apso — Haemophilia B (hereditary; OMIA-verified breed predisposition)

Breed: Lhasa Apso (Dog) [63]

Lhasa Apso — Progressive retinal atrophy 4 (hereditary; OMIA-verified breed predisposition)

Disorder: Progressive retinal atrophy 4 [369]

Summary: Many different forms of progressive retinal atrophy (PRA) exist and more than 10 different genes have been identified so far in dogs to have likely causal variants for PRA. Please review OMIA for other variants. This OMIA entry will focus on PRA due the variants in the IMPG2 gene. [369]

Clin feat: Clinical signs are consistent with a rod-cone degeneration in both eyes. Initially, there may be mild attenuation of retinal blood vessels, hyper-reflectivity of the tapetum, optic disc discolouration and night blindness. As the disease progresses, the blindness becomes moderate to severe with attenuation of retinal blood vessel; hyper-reflectivity of the tapetum, due to retinal thinning; and optic disc atrophy (Hitti-Malin et al., 2020). Of the 19 out of 21 dogs for whom an age at diagnosis is known, approximately 50% were diagnosed between the age of 5 and 8 years (Hitti-Malin et al., 2020). [369]

Prevalence: Hitti-Malin et al. (2020): validation of this variant [the LINE-1 variant] in 447 dogs of 123 breeds determined it was private to LA dogs.... The recently estimated mutant allele frequency of 0.1, generated from the 911 DNA tested LA during 2 years of use of a DNA test based on this work, indicates that 1 in 100 dogs are likely to be affected with this form of PRA, and an 18% carrier frequency within the LA population. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388303885 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Hitti-Malin et al. (2020): "whole-genome sequencing analysis that revealed a long interspersed element-1 (LINE-1) insertion upstream of the IMPG2 gene." Evidence (references) - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2020. A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs. BMC Genet — PubMed:PMID32894063 | DOI:10.1186/s12863-020-00911-w — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613581 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616152 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607056 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [369]

Long-Haired Whippet — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Long-Haired Whippet (Dog) [69]

Lundehund — Dew claws, canine preaxial polydactyly (hereditary; OMIA-verified breed predisposition)

Breed: Lundehund (Dog) [146]

Lundehund — Lundehund syndrome (hereditary; OMIA-verified breed predisposition)

Clin feat: Metzger et al. (2016): the Lundehund harbors a breed disposition for a syndrome comprising particular features of protein-losing enteropathy (PLE), intestinal lymphangiectasia, gastrointestinal disturbance, inflammatory bowel disease and malabsorption designated as Lundehund syndrome (LS).... Clinical signs are diarrhea, vomiting, weight loss, edema and apathy often accompanied with decreased concentrations of albumin and globulin in blood profile Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: LEPREL1 (Entrez Gene ID 388246610) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Metzger et al. (2016): "Filtering analysis for variants with predicted high or moderate effects revealed a missense mutation in LEPREL1 [also known as P3H2] 1.2 Mb proximal to the region of the genome-wide association, which was shown to be significantly associated with LS." Evidence (references) - 1977. Protein losing enteropathy in the Lundehund. J Small Anim Pract — PubMed:PMID853728 | DOI:10.1111/j.1748-5827.1977.tb05819.x — OMIA Phene_Article / Article - 2016. Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome. BMC Genomics — PubMed:PMID27485430 | DOI:10.1186/s12864-016-2844-6 — OMIA Phene_Article / Article - 1994. Gastropathies in the Lundehund. I. Gastritis and gastric neoplasia associated with intestinal lymphangiectasia. APMIS — PubMed:PMID7946268 — OMIA Phene_Article / Article - 2015. Effective population size, extended linkage disequilibrium and signatures of selection in the rare dog breed lundehund. PLoS One — PubMed:PMID25860808 | DOI:10.1371/journal.pone.0122680 — OMIA Phene_Article / Article - 2023. Gut microbiome dysbiosis is associated with host genetics in the Norwegian Lundehund. Front Microbiol — PubMed:PMID37405168 | DOI:10.3389/fmicb.2023.1209158 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610341 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [370]

Magyar Agár — Bald thigh syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Magyar Agár (Dog) [292]

Majorca Mastiff — Hyperuricosuria and hyperuricemia (hereditary; OMIA-verified breed predisposition)

Breed: Majorca Mastiff (Dog) [95]

Maltese Terrier — Glycogen storage disease Ia (hereditary; OMIA-verified breed predisposition)

Breed: Maltese Terrier (Dog) [295]

Maltese — Ligneous membranitis (hereditary; OMIA-verified breed predisposition)

Breed: Maltese (Dog) [256]

Manchester Terrier — Sudden cardiac death in the young (SCDY) and dilated cardiomyopathy (DCM) (hereditary; OMIA-verified breed predisposition)

Breed: Manchester Terrier (Dog) [371]

Disorder: Sudden cardiac death in the young (SCDY) and dilated cardiomyopathy (DCM) [371]

Clin feat: Furrow et al. (2023): The Manchester Terrier provides a naturally occurring animal model of SCDY/DCM with disease manifesting as sudden death before 2 years of age, typically by 6 months [Legge et al. 2013]. [371]

Pathology: Furrow et al. (2023): Necropsy findings support acute and chronic forms. In the acute form, the heart is macroscopically normal with histopathologic abnormalities of acute multifocal myocardial degeneration and necrosis without inflammation. In the chronic form, mild cardiomegaly, left ventricle dilation, left ventricular wall thickening, and left auricle enlargement are common; in addition to myocardial degeneration, histopathologic abnormalities include myocardial fibrosis, mild inflammation, and, less frequently, myocardial mineralization. Dogs appear healthy prior to sudden death, with reports of anesthetic events or exercise preceding death in some cases [Legge et al. 2013]. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252285 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Furrow et al. (2023): "Sanger sequencing revealed an ABCC9 p.R1186Q variant present in a homozygous state in all SCDY/DCM-affected dogs (n = 26). None of the controls genotyped (n = 398) were homozygous for the variant, but 69 were heterozygous carriers, consistent with autosomal recessive inheritance with complete penetrance (p = 4 × 10−42 for the association of homozygosity for ABCC9 p.R1186Q wi… Evidence (references) - 2013. Histological characterization of dilated cardiomyopathy in the juvenile toy Manchester terrier. Vet Pathol — PubMed:PMID23456967 | DOI:10.1177/0300985813480509 — OMIA Phene_Article / Article - 2023. An ABCC9 missense variant is associated with sudden cardiac death and dilated cardiomyopathy in juvenile dogs. Genes (Basel) — PubMed:PMID37239348 | DOI:10.3390/genes14050988 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601439 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608569 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [371]

Mastiff — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)

Breed: Mastiff (Dog) [338]

McNab Shepherd — Ivermectin sensitivity (hereditary; OMIA-verified breed predisposition)

Breed: McNab Shepherd (Dog) [123]

Miniature American Shepherd — Neuroaxonal dystrophy, RNF170-related (hereditary; OMIA-verified breed predisposition)

Breed: Miniature American Shepherd (Dog) [372]

Clin feat: Cook et al. (2024) reported that affected Miniature American Shepherd dogs were typically young adults. [displaying] varying degrees of hind limb weakness and ataxia, together with scuffing of the nails/dragging of digits. Kyphosis and a pacing/ambling gait were commonly reported. A cerebellar gait was also noted in several dogs. A few dogs had a reported change in behavior. Seizures were only reported in one dog.. Overall, in the present cohort of MAS dogs from a wide international genetic pool, the onset of clinical signs was typically around the second year of life, although this varied somewhat between dogs; this variability, to an extent, depended on the astuteness of the owner's observations. Slowly progressive T3-L3 myelopathy signs were observed as the most common clinical presentation, with possible cervical, cerebellar, or forebrain signs also developing. Neither pain nor vestibular signs were reported in affected dogs. Gait abnormalities were always more obvious during the walk compared to faster gaits. The disease has a very slow progression and affected dogs may reach more than ten years of age. [372]

Pathology: Cook et al. (2024) reported histopathology from two affected Miniature American Shepherd dogs: In both necropsied cases. the evaluation of the brain and spinal cord showed widespread and bilateral neuroaxonal degeneration throughout the gray and white matter with the lateral cuneate nuclei in the brainstem being most severely affected.. The neuroaxonal degeneration consisted of variable numbers of large, swollen, and hypereosinophilic axons (spheroids), dilated myelin sheaths, degenerated or dead neurons, and mixed gliosis.. No other significant changes were seen in any of the organs evaluated. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298925 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Cook et al. (2024) investigated neuroaxonal dystrophy in Miniature American Shepherd dogs and conducted "a genome-wide association study and autozygosity mapping approach, followed by whole-genome sequencing. ... The underlying genetic cause was identified as a 1-bp (base pair) deletion in RNF170 encoding ring finger protein 170, which perfectly segregates in an autosomal recessive p… Evidence (references) - 2024. Canine RNF170 single base deletion in a naturally occurring model for human neuroaxonal dystrophy. Mov Disord — PubMed:PMID39177409 | DOI:10.1002/mds.29977 — OMIA Phene_Article / Article - 2024. Correction to "Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy". Mov Disord — PubMed:PMID39648631 | DOI:10.1002/mds.30079 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:614649 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608984 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:619686 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [372]

Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-related (hereditary; OMIA-verified breed predisposition)

Breed: Miniature Australian Shepherd Dog (Dog) [373]

Clin feat: Heinonen et al. (2023) report Miniature Australian Shepherd dogs with episodes of muscle stiffness that could occasionally be triggered by acoustic stimuli. [373]

Pathology: Heinonen et al. (2023): Morphological examination of the left semitendinosus and cranial tibial muscles revealed a moderate to marked increase of interfibrillar and subsarcolemmal lipid droplets going together with subhistological mitochondrial crowding and occasional cristae abnormalities.. Individual fibers at ultrastructural level also revealed I-band misalignment and early necrotic changes. There was no evidence of myonuclear abnormalities, fiber mineralization, sarcoplasmic vacuolation, protein inclusions, or pathological storage of polysaccharides. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253940 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Heinonen et al. (2023): "Whole genome sequence data analysis of two affected dogs revealed a 36-bp deletion spanning the exon–intron boundary in the glycine receptor alpha 1 (GLRA1) gene. Further validation in pedigree samples and an additional cohort of 127 Miniature Australian Shepherds, 45 Miniature American Shepherds and 74 Australian Shepherds demonstrated complete segregation of the variant … Evidence (references) - 2023. A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia. Hum Genet — PubMed:PMID37222814 | DOI:10.1007/s00439-023-02571-z — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:149400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:138491 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [373]

Miniature Bull Terrier — Laryngeal paralysis, RAPGEF6-related (hereditary; OMIA-verified breed predisposition)

Breed: Miniature Bull Terrier (Dog) [374]

Clin feat: Hadji Rasouliha et al. (2019): Laryngeal paralysis (LP) is the inability to abduct the arytenoid cartilages during inspiration, resulting in a partial to complete airway obstruction and consequent respiratory distress. Different forms of LP with varying age of onset exist in dogs. Hereditary early onset forms were reported in several dog breeds. In most breeds, hereditary LP is associated with other neurologic pathologies. [374]

Prevalence: Hadji Rasouliha et al. (2019): The insertion allele was only found in Miniature Bull Terriers and Bull Terriers. It was absent from 1000 control dogs of other dog breeds. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388304610 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2011. Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J — PubMed:PMID20638305 | DOI:10.1016/j.tvjl.2010.06.003 — OMIA Phene_Article / Article - 2019. A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genet — PubMed:PMID31647804 | DOI:10.1371/journal.pgen.1008416 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610499 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [374]

Miniature Pinscher — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Miniature Pinscher (Dog) [94]

Miniature Schnauzer — Congenital idiopathic megaesophagus (hereditary; OMIA-verified breed predisposition)

Breed: Miniature Schnauzer (Dog) [222]

Miniature Schnauzer — Persistent Müllerian Duct Syndrome (hereditary; OMIA-verified breed predisposition)

Summary: Information relating to persistent Mullerian duct syndrome due to variants in the AMRH2 gene were previously listed under [OMIA:000791-9615]: Persistent Mullerian duct syndrome in Canis lupus familiaris. PMDS is a type of XY disorder of sexual development (XY DSD), characterized by the presence of Müllerian duct derivatives in otherwise normal males. The mode of inheritance for the PMDS trait in miniature schnauzers is sex-limited autosomal recessive. Affected dogs are 78,XY and have bilateral testes. Both affected and carrier males appear externally normal, although approximately 50% of affected dogs are unilaterally or bilaterally cryptorchid. Common sequelae are Sertoli cell tumors in cryptorchid PMDS males and pyometra. Treatment in affected dogs is gonadectomy and hysterectomy. Testing for the mutation prior to breeding is recommended, because affected dogs with scrotal testes are fertile and carriers have no clinical signs. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT, updated by Imke Tammen [28/09/2023] [375]

Clin feat: Homozygous affected males have normal male external genitalia, except that approximately 50% are unilaterally or bilaterally cryptorchid. PMDS males having at least one descended testicle can be fertile. Carrier males and carrier females are reproductively normal. PMDS dogs may present at any age as a dog with normal male external genitalia or a cryptorchid dog. If cryptorchid, they may present as an adult with signs of testicular tumor. As pyometra can be a sequelae, affected dogs may present with typical signs,such as polydipsia, polyuria and inappetance. [375]

Pathology: During development of the male reproductive tract, Müllerian inhibiting substance (MIS), also known as Anti Mullerian hormone (AMh), causes regression of Mullerian duct precursors in males. MIS binding to its type II receptor (AMhR2) in the target organs is necessary to induce regression. If MIS signaling is faulty, the Müllerian ducts fail to regress in males, causing PMDS [Wu et al., 2009]. In addition to having male internal genitalia, PMDS males have bilateral oviducts, a complete uterus, a cervix, and the cranial part of the vagina, which ends in the dorsal prostate. There is a firm attachment between each cranial tip of the uterine horn and the caudal pole of the testis, which likely hinders testicular descent [Wu et al., 2009]. Some common complications are Sertoli cell tumors in cryptorchid PMDS dogs and pyometra. Pyometra may be facilitated by the narrow connection between the cranial vagina and the prostatic urethra, which allows pathogens to ascend to the uterus, but impedes purulent drainage [Wu et al., 2009]. On histologic section, cryptorchid testes from PMDS dogs lack germ cells, though scrotal testes appear normal. [375]

Prevalence: Smit et al. (2018): Genomic DNA from 216 Miniature Schnauzers (including one known PMDS case) was genotyped for the AMHR2 mutation, revealing an AMHR2 mutation allele frequency of 0.16 and a carrier genotypic frequency of 0.27. [375]

Control: To prevent PMDS, affected dogs should not be bred and carriers should not be bred to carriers. To reduce the frequency of the mutation in the miniature schnauzer breed, carriers should be removed from the breeding population. Because affected and carrier miniature schnauzers can have normal male external genitalia, testing for the mutation prior to breeding is recommended. As carrier females have no signs and are reproductively normal, testing for the mutation prior to breeding is recommended. [375]

Gen test: The causative mutation of PMDS in the miniature schnauzer is a C to T transition in exon 3 of the Müllerian inhibiting substance type II receptor gene (AMHR2, Wu et al., 2009). A DNA test for this mutation can identify affected, carrier and normal miniature schnauzers (Pujar et al 2009). This is a PCR test followed by digestion of the PCR product by a restriction enzyme. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3484440 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Wu et al. (2009) reported that the causative mutation of PMDS in the miniature schnauzer is a C to T transition in exon 3 of the Müllerian inhibiting substance type II receptor gene (MISRII, now known as AMHR2). Smit et al. (2018): "The genetic basis for PMDS in the Belgian Malinois was not determined, as no coding or splicing mutations were identified in either AMH or AMHR2 [in an affected dog]" Evidence (references) - 1976. Male pseudohermaphroditism, cryptorchism, and Sertoli cell neoplasia in three miniature Schnauzers. J Am Vet Med Assoc — PubMed:PMID10267 — OMIA Phene_Article / Article - 2009. A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Mullerian duct syndrome. J Androl — PubMed:PMID18723470 | DOI:10.2164/jandrol.108.005736 — OMIA Phene_Article / Article - 1982. Persistent Mullerian duct syndrome in miniature schnauzers. J Am Vet Med Assoc — PubMed:PMID7141975 — OMIA Phene_Article / Article - 2009. A molecular diagnostic test for persistent Müllerian duct syndrome in miniature schnauzer dogs. Sex Dev — PubMed:PMID20051676 | DOI:10.1159/000273264 — OMIA Phene_Article / Article - 2009. Review and update: genomic and molecular advances in sex determination and differentiation in small animals. Reprod Domest Anim — PubMed:PMID19754534 | DOI:10.1111/j.1439-0531.2009.01433.x — OMIA Phene_Article / Article - 2009. A case of persistent Müllerian duct syndrome with sertoli cell tumor and hydrometra in a dog. J Vet Med Sci — PubMed:PMID19346713 — OMIA Phene_Article / Article - 2010. Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. Reprod Domest Anim — PubMed:PMID18954385 | DOI:10.1111/j.1439-0531.2008.01223.x — OMIA Phene_Article / Article - 2011. Ambiguous genitalia in a fertile, unilaterally cryptorchid male miniature schnauzer dog. Vet Pathol — PubMed:PMID21248100 | DOI:10.1177/0300985810396104 — OMIA Phene_Article / Article - 2018. Sertoli cell tumour and uterine leiomyoma in Miniature Schnauzer dogs with persistent Müllerian duct syndrome caused by mutation in the AMHR2 gene. J Comp Pathol — PubMed:PMID30173854 | DOI:10.1016/j.jcpa.2018.04.004 — OMIA Phene_Article / Article - 2018. Prevalence of the AMHR2 mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent Müllerian duct syndrome. Reprod Domest Anim — PubMed:PMID29194807 | DOI:10.1111/rda.13116 — OMIA Phene_Article / Article - 2019. Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog. An Acad Bras Cienc — PubMed:PMID31241703 | DOI:10.1590/0001-3765201920180752 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:261550 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600956 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [375]

Miniature Schnauzer — Polyneuropathy, SBF2-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Granger et al. (2019): at a young age (2 years), affected Miniature Schnauzers presented regurgitations caused by mega-esophagus and inspiratory dyspnea caused by laryngeal paralysis. Electrophysiological studies revealed marked slowing of motor and sensory nerve conduction velocities (∼20 m/s), although some nerves had preserved conduction velocities. Farré Mariné et al. (2020): Twelve Miniature Schnauzers presented between March 2013 and June 2019. Only dogs presented with consistent clinical signs and homozygous for the MTRM13/SBF2 genetic variant were included. Clinical signs, age of onset and presentation, time from onset to presentation, treatment, outcome, and time from diagnosis to final follow-up were retrospectively reviewed. The hallmark clinical signs at the time of presentation were regurgitation with radiologically confirmed megaesophagus (11/12) and aphonic bark (11/12) with or without obvious neuromuscular weakness despite electrodiagnostic evidence of appendicular demyelinating polyneuropathy. Age of onset and clinical presentation were 3-18 and 4-96 months, respectively. Treatment was mostly symptomatic and consisted of head elevation during meals, antacids, prokinetics, bethanechol, sildenafil, mirtazapine, or some combination of these. During the follow-up period (7-73 months), clinical signs were unchanged in (11/12) cases with aspiration pneumonia developing occasionally (6/12) and being the cause of death in 1 dog. Demyelinating polyneuropathy of Miniature Schnauzers tends to remain stable over the long term leading to a good prognosis with preventive feeding measures and symptomatic treatment to control aspiration pneumonia. [376]

Prevalence: Granger et al. (2019): Screening for the variant in a dataset of 802 whole genome sequences from 162 purebred dogs/mixed breed dogs/wolves identified two Miniature Schnauzers that were heterozygous for the variant and one mutant homozygote; the remaining 799 dogs were clear (File S3). On follow-up investigation the mutant homozygous dog was affected with neonatal lethal spondylocostal dysostosis, hence no clinical data relevant to the demyelinating neuropathy phenotype was available. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388245237 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Granger et al. (2019): "Sequencing of SBF2 in cases revealed a splice donor site genetic variant, resulting in cryptic splicing and predicted early termination of the protein based on RNA sequencing results. . . . his revealed a homozygous +1 splice genetic variant in exon 19 (c.2363+1 G>T; chr21:33,080,022 C>A CanFam3.1) in the affected case in comparison to the control (Fig. 3). No further var… Evidence (references) - 2008. Demyelinating polyneuropathy with focally folded myelin sheaths in a family of Miniature Schnauzer dogs. J Neurol Sci — PubMed:PMID18809183 | DOI:10.1016/j.jns.2008.07.031 — OMIA Phene_Article / Article - 2020. Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases. J Vet Intern Med — PubMed:PMID32738000 | DOI:10.1111/jvim.15861 — OMIA Phene_Article / Article - 2019. Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ — PubMed:PMID31772832 | DOI:10.7717/peerj.7983 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:604563 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607697 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [376]

Miniature Schnauzer — Progressive retinal atrophy, type 1 (hereditary; OMIA-verified breed predisposition)

Disorder: Progressive retinal atrophy, type 1 [377]

Clin feat: Murgiano et al. (2019) reported Based on the limited number of cases examined by one of the authors (GDA), PRA-affected dogs were clinically indistinguishable from the earlier described photoreceptor dysplasia cases (Parshall et al. 1991). Clinical examinations using biomicroscopy and indirect ophthalmoscopy showed that affected dogs were normal when examined at 10 months of age or earlier. Subsequently, fundus changes indicative of PRA developed. By 3 years of age, affected dogs showed advanced retinal disease. They had slow and incomplete pupillary light reflexes, and showed poor vision in familiar surroundings or preferred to be in a crate and not moving around.. Fundus abnormalities at ∼3 years of age were characteristic of mid-stage disease (Parshall et al. 1991), consisted of marked attenuation or loss of retinal vessels, diffuse hyperreflectivity and ridging of the tapetal region (an indication of retinal thinning) and RPE loss and pigment migration in the non-tapetal regions of the eye. Cataracts were not present at this time. Progression to end-stage retinal atrophy and blindness occurred with age, although we could not specify the age when these changes occurred as most of the samples and clinical records were submitted from dogs prior to this advanced disease stage. Kaukonen et al. (2020) reported that the clinical signs and age of onset closely resemble those reported in the same breed by Jeong et al. (2013). All 12 cases examined in Kaukonen et al. (2020) were totally blind before the age of five. [377]

Pathology: Kaukonen et al. (2020): OCT [Optical Coherence Tomography] imaging... showed complete loss of the photoreceptor layer Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 475316 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Zhang et al. (1998) showed that some Miniature Schnauzers with this disorder are homozygous for a missense mutation in codon 82 (CGA -> GGA) of the gene for phosducin, creating an amino acid substiturion of Arg -> Gly. However, some affected dogs are heterozygous for this mutation, and other affecteds are homozygous for the normal allele. Murgiano et al. (2019) reported unpublished informati… Evidence (references) - 1998. Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia. Gene — PubMed:PMID9714819 | DOI:10.1016/s0378-1119(98)00310-2 — OMIA Phene_Article / Article - 1999. Photoreceptor dysplasia (pd) in miniature schnauzer dogs: Evaluation of candidate genes by molecular genetic analysis. J Hered — PubMed:PMID9987905 | DOI:10.1093/jhered/90.1.57 — OMIA Phene_Article / Article - 1991. Photoreceptor dysplasia: an inherited progressive retinal atrophy of miniature schnauzer dogs. Prog. Vet. Comp. Ophth. — OMIA Phene_Article / Article - 2019. Complex structural PPT1 variant associated with non-syndromic canine retinal degeneration. G3 (Bethesda) — PubMed:PMID30541930 | DOI:10.1534/g3.118.200859 — OMIA Phene_Article / Article - 2020. A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLoS Genet — PubMed:PMID32150541 | DOI:10.1371/journal.pgen.1008659 — OMIA Phene_Article / Article - 2013. Clinical and electroretinographic findings of progressive retinal atrophy in miniature schnauzer dogs of South Korea. J Vet Med Sci — PubMed:PMID23719750 | DOI:10.1292/jvms.12-0358 — OMIA Phene_Article / Article - 2020. Formal commentary. PLoS Genet — PubMed:PMID33151924 | DOI:10.1371/journal.pgen.1009059 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600722 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:256730 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [377]

Miniature Schnauzer — Spondylocostal dysostosis, autosomal recessive (hereditary; OMIA-verified breed predisposition)

Summary: Also called Comma defect (Willet et al., 2015), due to the gross anatomical shape of the abnormal pups. [378]

Clin feat: As reported by Willet et al. (2015), The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Also, The three affected pups were born stillborn or died within hours of birth. Gross external examination of the pups by the attending veterinarian revealed a reduction in body length compared with normal littermates (data not available). The hindquarters of affected pups were reduced in size compared to the forequarters, giving an overall comma-like morphology to the body. One of the affected samples had umbilical hernia and another had a cleft hard palate. [378]

Prevalence: Willet et al. (2015) tested 127 Miniature Schnauzers and six Standard Schnauzers for the deletion. Only the three affected pups tested homozygous for the mutant allele, and four family members tested heterozygous, giving an estimated allele frequency of 0.04 for the eastern Australian population tested. Carrier imported family members from Sweden and Argentina suggest that the allele may be globally dispersed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388306975 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Comparative analysis by Willet et al. (2015), based on location and phenotype in the mouse, revealed 19 positional comparative candidate genes. Whole-genome sequencing of two of the affected sibs revealed 5 candidate functional mutations, which were subsequently narrowed down to the causal mutation, a "guanine deletion at CFA5:35,940,090 (CFA5:32,945,846 in canFam3.1) within exon 2 of HES7 (c.126d… Evidence (references) - 2015. Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs. PLoS One — PubMed:PMID25659135 | DOI:10.1371/journal.pone.0117055 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613686 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608059 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [378]

Mixed Breed — Acromelanism; Himalayan coat color/colour (hereditary; OMIA-verified breed predisposition)

Breed: Mixed Breed (Dog) [239]

Mixed Breed — Congenital insensitivity to pain (hereditary; OMIA-verified breed predisposition)

Disorder: Congenital insensitivity to pain [379]

Clin feat: Gutierrez-Quintana et al. (2023): Physical and neurological examinations showed the absence of superficial and deep pain perception in the entire body. The authors studied two affected littermates. One had to be euthanized at 2 months of age due to an infected and dislocated tibial and fibular fracture. The other affected littermate had to be euthanized at 10 months of age after having suffered multiple burns from sleeping too close to a heating radiator and other skin lesions. [379]

Pathology: Gutierrez-Quintana et al. (2023): Histopathological evaluations of the brain, spinal cord and sensory ganglia were normal. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253412 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Gutierrez-Quintana et al. (2023) studied two affected littermates. Whole genome sequencing of one affected dog and comparing the data to 926 control genomes from genetically diverse dogs identified eight private homozygous protein changing variants. One was located in SCN9A, a functional candidate gene for congenital pain insensitivty. It was a missense variant, XM_038584713.1:c.2761C>T or XP_0384… Evidence (references) - 2023. SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain. J Vet Intern Med — PubMed:PMID36630088 | DOI:10.1111/jvim.16610 — OMIA Phene_Article / Article - 2023. Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain". J Vet Intern Med — PubMed:PMID37083220 | DOI:10.1111/jvim.16707 — OMIA Phene_Article / Article - 2023. Letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain"-Navigating the pathogenicity of candidate gene mutations: Spotlight on paralog Nav genes. J Vet Intern Med — PubMed:PMID37083183 | DOI:10.1111/jvim.16708 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:243000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603415 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [379]

Mixed Breed — Glucocorticoid resistance (hereditary; OMIA-verified breed predisposition)

Clin feat: Yamanaka et al. (2019) reported a single affected '6-year-old spayed, mixed-breed dog.. The dog was tentatively diagnosed with pemphigus foliaceus at a private hospital 9 months previously. The dog had been treated with prednisolone. for approximately 3 months. After the dog was started on the medication, polyuria, polydipsia, and abdominal distension were observed. The pemphigus foliaceus was neither ameliorated nor aggravated. After prednisolone withdrawal, calcinosis cutis was observed on the dorsal skin. Two months later. the adverse reaction due to glucocorticoid therapy had already disappeared, except for extremely severe calcinosis cutis over the entire dorsal skin.. The authors diagnosed glucocorticoid resistance in this dog with iatrogenic Cushing syndrome. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246130 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2019. Functional characterization of canine wild type glucocorticoid receptor and an insertional mutation in a dog. BMC Vet Res — PubMed:PMID31651346 | DOI:10.1186/s12917-019-2129-9 — OMIA Phene_Article / Article - 2016. Polymorphisms in the canine glucocorticoid receptor alpha gene (NR3C1α). J Vet Pharmacol Ther — PubMed:PMID25989385 | DOI:10.1111/jvp.12241 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615962 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:138040 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [380]

Mixed Breed — Glycogen storage disease IV (hereditary; OMIA-verified breed predisposition)

Clin feat: Jolly et al. (2002) reported that The nature, distribution and histochemistry of lesions observed [in a mixed-breed dog] are consistent with a putative diagnosis of Glycogen storage disease type IV, an inherited metabolic defect associated with a deficiency of glycogen-branching enzyme not previously reported in dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2002. Polyglucosan body disease in a mixed-breed dog.. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article - 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models.. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article - 2002. Polyglucosan body disease in a mixed-breed dog. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article - 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article - 2002. Polyglucosan body disease in a mixed-breed dog. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article - 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article - 2002. Polyglucosan body disease in a mixed-breed dog. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article - 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article - 2002. Polyglucosan body disease in a mixed-breed dog. N Z Vet J — PubMed:PMID16032207 | DOI:10.1080/00480169.2002.36247 — OMIA Phene_Article / Article - 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607839 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [381]

Mixed Breed — Granuloprival cerebellar cortical degeneration (hereditary; OMIA-verified breed predisposition)

Disorder: Granuloprival cerebellar cortical degeneration [382]

Clin feat: Shekelle et al. (2026): A mixed-breed male puppy had a 6-month history of progressive cerebellar ataxia and head tremors.. without a clinically detectable cause. Euthanasia with a necropsy was elected based on the severity of the puppy's clinical signs and lack of response to treatment. At necropsy, the cerebellum was mildly atrophied, and microscopically there was severe diffuse loss of the cerebellar internal granular cell layer with minimal loss of Purkinje cells (granuloprival degeneration). [382]

Pathology: Shekelle et al. (2026): At necropsy, the cerebellum was mildly atrophied, and microscopically there was severe diffuse loss of the cerebellar internal granular cell layer with minimal loss of Purkinje cells (granuloprival degeneration). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299106 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Shekelle et al. (2026): "A novel, heterozygous point mutation [omia.variant:1901] in the endoplasmic reticulum membrane protein complex subunit 1 (EMC1) gene was detected [in an affected mixed breed dog] via whole genome sequencing ." Evidence (references) - 2026. Granuloprival cerebellar cortical degeneration in a mixed breed dog with an EMC1 mutation. J Comp Pathol — PubMed:PMID42066428 | DOI:10.1016/j.jcpa.2026.04.009 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:616846 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616875 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [382]

Mixed Breed — Myopathy, creatine deficiency disorder, GATM-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Leonardi et al. (2026): Clinical signs included megaesophagus with generalized muscle atrophy in both affected dogs. One dog showed exercise intolerance. Computed tomography (CT) scan revealed bilateral and symmetrical diffuse hypoattenuating muscle lesions. Electromyography was characterized by nonspecific abnormal spontaneous activity in electrodiagnostically affected muscles.. All clinical signs improved after 3 days of creatine (800-1500 mg/kg/day) andbrL-carnitine (80-150 mg/kg) supplementation and remained stable at the time of writing 4 months after diagnosis. [383]

Pathology: Leonardi et al. (2026): Type2 fiber atrophy and excessive intramyofiber lipid droplets in type1muscle fibers were the predominant findings in histopathology. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299104 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Leonardi et al. (2026) report 3 dogs from the same litter wiht myopathy. Whole genome sequencing identified a likely causal missense variant in GATM (NP 001274013.1:p.R414C, omia.variant:1899). Evidence (references) - 2026. Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. J Vet Intern Med — PubMed:PMID41742483 | DOI:10.1093/jvimsj/aalaf055 — OMIA Phene_Article / Article - 2026. Correction to: Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. J Vet Intern Med — PubMed:PMID42089721 | DOI:10.1093/jvimsj/aalag102 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:602360 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612718 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:134600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [383]

Mixed Breed — Retinal atrophy, progressive, X-linked, type 2 (hereditary; OMIA-verified breed predisposition)

Summary: The difference between XLPRA1 ([OMIA:000831-9615]) and XLPRA2 (this entry) is summarised by Appelbaum et al. (2020) as XLPRA1-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc.... The phenotype associated with XLPRA2 is very severe and manifests during early retinal development. [384]

Clin feat: Beltran et al. (2006): Abnormal development of photoreceptors was recognizable as early as 3.9 weeks of age. Outer segment (OS) misalignment was followed by their disorganization and fragmentation. Reduction in length and broadening of rod and cone inner segments (IS) was next observed, followed by the focal loss of rod and cone IS at later time points. The proportion of dying photoreceptors peaked at approximately 6 to 7 weeks of age and was significantly reduced after 12 weeks. In addition to rod and cone opsin mislocalization, there was early rod neurite sprouting, retraction of rod bipolar cell dendrites, and increased Müller cell reactivity. Later in the course of the disease, changes were also noted in horizontal cells and amacrine cells. As summarised by these authors: XLPRA2 is an early-onset model of XLRP that is morphologically characterized by abnormal photoreceptor maturation followed by progressive rod-cone degeneration and early inner retina remodeling. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 403726 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Based on a comparative positional cloning approach (the canine disorder maps to a location on the canine X chromosome that is homologous with the location of the same disorder (RP3) in humans, which is due to mutations in the RPGR gene), Zhang et al. (2002) identified a "a two-nucleotide deletion (delGA) in 1084–1085" in the canine RPGR gene as a causal mutation for a form of X-linked PRA they cal… Evidence (references) - 2002. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet — PubMed:PMID11978759 — OMIA Phene_Article / Article - 2010. Transcriptional Profile Analysis of RPGRORF15 Frameshift Mutation Identifies Novel Genes Associated with Retinal Degeneration. Invest Ophthalmol Vis Sci — PubMed:PMID20574030 | DOI:10.1167/iovs.10-5443 — OMIA Phene_Article / Article - 2006. A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci — PubMed:PMID16565408 | DOI:10.1167/iovs.05-0845 — OMIA Phene_Article / Article - 2007. Independent origin and restricted distribution of RPGR deletions causing XLPRA. J Hered — PubMed:PMID17646274 | DOI:10.1093/jhered/esm060 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2012. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A — PubMed:PMID22308428 | DOI:10.1073/pnas.1118847109 — OMIA Phene_Article / Article - 2013. Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. PLoS One — PubMed:PMID24367709 | DOI:10.1371/journal.pone.0085408 — OMIA Phene_Article / Article - 2014. Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics — PubMed:PMID24581223 | DOI:10.1186/1471-2164-15-172 — OMIA Phene_Article / Article - 2017. Involvement of innate immune system in late stages of inherited photoreceptor degeneration. Sci Rep — PubMed:PMID29263354 | DOI:10.1038/s41598-017-18236-7 — OMIA Phene_Article / Article - 2020. Toxicity and efficacy evaluation of an AAV vector expressing codon-optimized RPGR delivered by subretinal injection in a canine model of X-linked retinitis pigmentosa. Hum Gene Ther — PubMed:PMID31910043 | DOI:10.1089/hum.2019.297 — OMIA Phene_Article / Article - 2020. Critical decrease in the level of axon guidance receptor ROBO1 in rod synaptic terminals is followed by axon retraction. Invest Ophthalmol Vis Sci — PubMed:PMID32176262 | DOI:10.1167/iovs.61.3.11 — OMIA Phene_Article / Article - 2020. Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet — PubMed:PMID32189222 | DOI:10.1007/s13353-020-00554-8 — OMIA Phene_Article / Article - (15 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:300029 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:312610 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:304020 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300834 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300455 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [384]

Mixed Breed — Xanthinuria, type I (hereditary; OMIA-verified breed predisposition)

Prevalence: The c.654GA variant was not present in 813 dog sequences included in the Dog Biomedical Variant Database Consortium (Jagannathan et al., 2019). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249725 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2013. Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels. J Small Anim Pract — PubMed:PMID23859747 | DOI:10.1111/jsap.12106 — OMIA Phene_Article / Article - 2019. A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves. Anim Genet — PubMed:PMID31486122 | DOI:10.1111/age.12834 — OMIA Phene_Article / Article - 2016. 2016 ACVIM Forum Research Report Program: Three diverse mutations underlying canine xanthine urolithiasis. J Vet Intern Med — DOI:10.1111/jvim.13963 — OMIA Phene_Article / Article - 2021. Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs. Mol Genet Metab Rep — PubMed:PMID34584846 | DOI:10.1016/j.ymgmr.2021.100792 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:607633 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:278300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [385]

Mixed Breed — classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related; Ehlers-Danlos syndrome, classic-like, 1 (hereditary; OMIA-verified breed predisposition)

Disorder: classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related; Ehlers-Danlos syndrome, classic-like, 1 [386]

Clin feat: Bauer et al. (2019): The dog was referred because of fragile skin that teared or bruised easily even from minor injuries, leading to severe wounds that healed poorly. According to the owner, the skin fragility had been present since the dog was a puppy. At the time of examination, the dog was 21 months old and appeared in a good general health condition. Neither wounds nor scars were present, but the skin was hyperextensible. [386]

Prevalence: As reported by Bauer et al. (2019): Although one of the variant alleles, XM_003431680.3:c.2012G>A, p.(Ser671Asn), was private to the family of the affected dog and absent from whole-genome sequencing data of 599 control dogs, the second variant allele, XM_003431680.3:c.2900G>A, p.(Gly967Asp), is present at a low frequency in the Chihuahua and Poodle population. Pathogenicity of both variants is questionable. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389413072 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bauer et al. (2019) reported an affected mixed-breed dog that is a compound heterozygote for two potentially causal recessive TNXB variants: c.2012G>A; p.(Ser671Asn) and c.2900G>A; p.(Gly967Asp). The authors state “Given that this is a single case investigation and that we have no functional confirmation of a tenascin XB deficiency, this result must be considered preliminary and should be in… Evidence (references) - 2019. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet — PubMed:PMID31365140 | DOI:10.1111/age.12830 — OMIA Phene_Article / Article - 2021. Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet — PubMed:PMID34712265 | DOI:10.3389/fgene.2021.726474 — OMIA Phene_Article / Article - 2021. Connective tissue disorders in domestic animals. Adv Exp Med Biol — PubMed:PMID34807427 | DOI:10.1007/978-3-030-80614-9_15 — OMIA Phene_Article / Article - 2020. The Ehlers-Danlos syndromes. Nat Rev Dis Primers — PubMed:PMID32732924 | DOI:10.1038/s41572-020-0194-9 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606408 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600985 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [386]

Mudi — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Mudi (Dog) [94]

Navasota (mixed breed) — Alport syndrome, X-linked hereditary nephropathy, glomerulonephritis, X- linked nephritis (hereditary; OMIA-verified breed predisposition)

Breed: Navasota (mixed breed) (Dog) [230]

Nederlandse Kooikerhondje — Hereditary necrotizing myelopathy (hereditary; OMIA-verified breed predisposition)

Breed: Nederlandse Kooikerhondje (Dog) [387]

Disorder: Hereditary necrotizing myelopathy [387]

Clin feat: Mandigers et al. (2023): The clinical signs, paresis and ataxia, start in most [affected Kooiker] dogs around the age of 3–12 months in the hind limbs and progresses to tetraparalysis before the age of 2 years. [387]

Pathology: Mandigers et al. (2023): Post-mortem examination performed in these dogs revealed a symmetric bilateral necrotizing myelopathy with malacia in the ventral and dorsal white matter. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249199 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Mandigers et al. (2023) investigated gene exons in the 5 Mb region on chromosome 14 by next-generation sequencing of affected Kooiker dogs: "A candidate pathogenic mutation was found in the iron–sulfur cluster assembly gene IBA57 and led to the amino acid substitution R147W. ... IBA57 is a nuclear-encoded mitochondrial protein [and defects in the protein are known to cause multiple mitochondrial d… Evidence (references) - 1993. Hereditary necrotising myelopathy in Kooiker dogs. Res Vet Sci — PubMed:PMID8434139 | DOI:10.1016/0034-5288(93)90020-g — OMIA Phene_Article / Article - 2023. An inflammatory myopathy in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID37174546 | DOI:10.3390/ani13091508 — OMIA Phene_Article / Article - 1993. Hereditary Kooiker dog ataxia. Tijdschr. Voor Diergeneeskd. — OMIA Phene_Article / Article - 2023. A novel IBA57 variant is associated with mitochondrial iron-sulfur protein deficiency and necrotizing myelopathy in dogs. Front Genet — PubMed:PMID37588046 | DOI:10.3389/fgene.2023.1190222 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615316 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615330 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616451 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [387]

Nederlandse Kooikerhondje — Polymyositis (hereditary; OMIA-verified breed predisposition)

Summary: Opmeer et al. (2025): Polymyositis in the breed of. Kooiker dogs is an autoimmune mediated inflammatory disease of skeletal muscles [with familial occurence]. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2013. Association of an MHC class II haplotype with increased risk of polymyositis in Hungarian Vizsla dogs.. PLoS One — PubMed:PMID23457575 | DOI:10.1371/journal.pone.0056490 — OMIA Phene_Article / Article - 2023. An inflammatory myopathy in the Dutch Kooiker dog.. Animals (Basel) — PubMed:PMID37174546 | DOI:10.3390/ani13091508 — OMIA Phene_Article / Article - 2024. Pathologic changes in and immunophenotyping of polymyositis in the Dutch Kooiker dog.. Animals (Basel) — PubMed:PMID39272303 | DOI:10.3390/ani14172519 — OMIA Phene_Article / Article - 2025. Polymyositis in Kooiker dogs is associated with a 39 kb deletion upstream of the canine IL21/IL2 locus.. PLoS Genet — PubMed:PMID39746095 | DOI:10.1371/journal.pgen.1011538 — OMIA Phene_Article / Article - 2025. Age of onset, treatment response, and survival rates in Dutch Kooiker dogs diagnosed with hereditary polymyositis.. Front Vet Sci — PubMed:PMID40520426 | DOI:10.3389/fvets.2025.1559040 — OMIA Phene_Article / Article - 2013. Association of an MHC class II haplotype with increased risk of polymyositis in Hungarian Vizsla dogs. PLoS One — PubMed:PMID23457575 | DOI:10.1371/journal.pone.0056490 — OMIA Phene_Article / Article - 2023. An inflammatory myopathy in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID37174546 | DOI:10.3390/ani13091508 — OMIA Phene_Article / Article - 2024. Pathologic changes in and immunophenotyping of polymyositis in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID39272303 | DOI:10.3390/ani14172519 — OMIA Phene_Article / Article - 2025. Polymyositis in Kooiker dogs is associated with a 39 kb deletion upstream of the canine IL21/IL2 locus. PLoS Genet — PubMed:PMID39746095 | DOI:10.1371/journal.pgen.1011538 — OMIA Phene_Article / Article - 2025. Age of onset, treatment response, and survival rates in Dutch Kooiker dogs diagnosed with hereditary polymyositis. Front Vet Sci — PubMed:PMID40520426 | DOI:10.3389/fvets.2025.1559040 — OMIA Phene_Article / Article - 2013. Association of an MHC class II haplotype with increased risk of polymyositis in Hungarian Vizsla dogs. PLoS One — PubMed:PMID23457575 | DOI:10.1371/journal.pone.0056490 — OMIA Phene_Article / Article - 2023. An inflammatory myopathy in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID37174546 | DOI:10.3390/ani13091508 — OMIA Phene_Article / Article - 2024. Pathologic changes in and immunophenotyping of polymyositis in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID39272303 | DOI:10.3390/ani14172519 — OMIA Phene_Article / Article - 2025. Polymyositis in Kooiker dogs is associated with a 39 kb deletion upstream of the canine IL21/IL2 locus. PLoS Genet — PubMed:PMID39746095 | DOI:10.1371/journal.pgen.1011538 — OMIA Phene_Article / Article - 2025. Age of onset, treatment response, and survival rates in Dutch Kooiker dogs diagnosed with hereditary polymyositis. Front Vet Sci — PubMed:PMID40520426 | DOI:10.3389/fvets.2025.1559040 — OMIA Phene_Article / Article - 2013. Association of an MHC class II haplotype with increased risk of polymyositis in Hungarian Vizsla dogs. PLoS One — PubMed:PMID23457575 | DOI:10.1371/journal.pone.0056490 — OMIA Phene_Article / Article - 2023. An inflammatory myopathy in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID37174546 | DOI:10.3390/ani13091508 — OMIA Phene_Article / Article - 2024. Pathologic changes in and immunophenotyping of polymyositis in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID39272303 | DOI:10.3390/ani14172519 — OMIA Phene_Article / Article - 2025. Polymyositis in Kooiker dogs is associated with a 39 kb deletion upstream of the canine IL21/IL2 locus. PLoS Genet — PubMed:PMID39746095 | DOI:10.1371/journal.pgen.1011538 — OMIA Phene_Article / Article - 2025. Age of onset, treatment response, and survival rates in Dutch Kooiker dogs diagnosed with hereditary polymyositis. Front Vet Sci — PubMed:PMID40520426 | DOI:10.3389/fvets.2025.1559040 — OMIA Phene_Article / Article - 2013. Association of an MHC class II haplotype with increased risk of polymyositis in Hungarian Vizsla dogs. PLoS One — PubMed:PMID23457575 | DOI:10.1371/journal.pone.0056490 — OMIA Phene_Article / Article - 2023. An inflammatory myopathy in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID37174546 | DOI:10.3390/ani13091508 — OMIA Phene_Article / Article - 2024. Pathologic changes in and immunophenotyping of polymyositis in the Dutch Kooiker dog. Animals (Basel) — PubMed:PMID39272303 | DOI:10.3390/ani14172519 — OMIA Phene_Article / Article - 2025. Polymyositis in Kooiker dogs is associated with a 39 kb deletion upstream of the canine IL21/IL2 locus. PLoS Genet — PubMed:PMID39746095 | DOI:10.1371/journal.pgen.1011538 — OMIA Phene_Article / Article - 2025. Age of onset, treatment response, and survival rates in Dutch Kooiker dogs diagnosed with hereditary polymyositis. Front Vet Sci — PubMed:PMID40520426 | DOI:10.3389/fvets.2025.1559040 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:160750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:160750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:160750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:160750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:160750 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [388]

New Zealand Heading Dog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: New Zealand Heading Dog (Dog) [68]

Newfoundland — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Newfoundland (Dog) [68]

Norfolk Terrier — Epidermolytic hyperkeratosis; epidermolytic ichthyosis (hereditary; OMIA-verified breed predisposition)

Breed: Norfolk Terrier (Dog) [215]

Northern Inuit Dog — Oculoskeletal dysplasia 1 (hereditary; OMIA-verified breed predisposition)

Breed: Northern Inuit Dog (Dog) [356]

Norwegian Buhund — Progressive cerebellar ataxia (hereditary; OMIA-verified breed predisposition)

Breed: Norwegian Buhund (Dog) [389]

Disorder: Progressive cerebellar ataxia [389]

Clin feat: Affected Norwegian Buhunds generally present as puppies with slowly progressing abnormalities in gait and balance. There is generally no irregularity of behaviour or demeanour, however they have a broad-based stance and hypermetria in all limbs, truncal ataxia and persistent head tremors (Mari et al., 2018). A bilaterally reduced menace response may be present, however no other abnormalities are likely on physical exam, CBC or serum biochemistry, and no abnormalities have been noted on MRI imaging or CSF sampling in known cases (Mari et al., 2018). [389]

Pathology: Histopathology will find mild evidence of neuronal degeneration and reduced Purkinje fibre differentiation in regions of the cerebellum (Mari et al., 2018). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246955 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By whole-genome sequencing two affected Norwegian Buhund sibs, comparing these sequences against 405 whole-genome sequences from other breeds, and then extensively genotyping the most likely variant, Jenkins et al. (2020) identified the most likely causal variant as "a T to C single nucleotide polymorphism (SNP) (NC_006585.3:g.88890674T>C), [that] is predicted to cause a tryptophan to arginine sub… Evidence (references) - 2018. Hereditary ataxia in four related Norwegian Buhunds. J Am Vet Med Assoc — PubMed:PMID30179085 | DOI:10.2460/javma.253.6.774 — OMIA Phene_Article / Article - 2020. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet — PubMed:PMID31999692 | DOI:10.1371/journal.pgen.1008527 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:608182 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [389]

Norwegian Elkhound — Ataxia, HACE1-related (hereditary; OMIA-verified breed predisposition)

Breed: Norwegian Elkhound (Dog) [390]

Clin feat: Bellamy et al. (2022): Owners reported an abnormal gait, especially in the pelvic limbs, of the affected dogs from around 4 weeks of age. The puppies were said to be unsteady, easily slipping on the floor with the pelvic limbs, occasionally falling over. In addition, they all had a hanging tail instead of the curled tail normal for this spitz breed.. On neurological examination, the body posture was kyphotic with a broad-based pelvic limb stance. The gait was moderately ataxic with hypermetric tendencies, most prominent in the pelvic limbs. [390]

Pathology: Bellamy et al. (2022): No macroscopical abnormalities were observed. In the cerebellum of all the examined cases, homogenous eosinophilic axonal swellings were present multifocally in the cerebellar granule cell layer.. These structures stained positively for neurofilament by immunohistochemistry and immunofluorescence and were consistent with spheroids in the Purkinje cell axons (torpedoes).. Occasionally, the torpedoes were shrunken and surrounded by a vacuolated space. In the brain stem, vacuoles were found in a moderate number disseminated and multifocally, both in the white matter tracts and in neuronal nuclei close to neurons. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388243815 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bellamy et al. (2022): "Whole genome sequencing ... detected only four closely linked private variants at CFA12 ... . All four variants were located within HACE1 ... .Two of the variants were located in the 5’-region ... and the other two ... were located ...in exon 11 (ENSCAFT00000072236.1). [One variant] ... was an already annotated synonymous variant ... [and the likely causal variant] was a 1 … Evidence (references) - 2022. A 1 bp deletion in HACE1 causes ataxia in Norwegian elkhound, black. PLoS One — PubMed:PMID35061740 | DOI:10.1371/journal.pone.0261845 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610876 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616756 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [390]

Norwegian Elkhound — Progressive retinal atrophy; retinal atrophy -2 (hereditary; OMIA-verified breed predisposition)

Disorder: Progressive retinal atrophy; retinal atrophy -2 [391]

Clin feat: As photoreceptor differentiation occurs postnatally in dogs (Goldstein et al., 2010), clinical signs will present from around 3-10 weeks of age. Given the affected type of photoreceptors, reduced night vision and night blindness are a common initial clinical presentation (Acland et al., 1987). Affected animals can present with poor generalised vision. Retinal degeneration will occur rapidly in the first 6 months, and then more gradually thereafter (Berta et al., 2011). Complete loss of vision will be reached at around 12-18 months of age (Acland et al., 1987). [391]

Pathology: Postnatal development of the photoreceptors is abnormal, with variations in morphology and function (Acland et al., 1987). Particularly, disparities are seen in the length and alignment of inner and outer segments of adjacent rods (Acland et al., 1987). Photoreceptors in affected dogs will undergo cell division and differentiate into hybrid rod/S-cone photoreceptors. Apoptosis and cell death may also occur (Berta et al., 2011). Rod and cone synapses will fail to develop correctly, eventually leading to retinal degeneration (Goldstein et al., 2010). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26583787 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Goldstein et al. (2010): "Fine mapping followed by candidate gene analysis of erd ... established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein ... ." Evidence (references) - 1995. Canine homolog and exclusion of retinal degeneration slow (rds) as the gene for early retinal degeneration (erd) in the dog. Exp Eye Res — PubMed:PMID8654508 | DOI:10.1016/s0014-4835(05)80059-4 — OMIA Phene_Article / Article - 1996. Nonallelism of erd and prcd and exclusion of the canine rds peripherin gene as a candidate for both retinal degeneration loci. Investigative Ophthalmology & Visual Science — PubMed:PMID8603863 — OMIA Phene_Article / Article - 1987. Retinal degenerations in the dog. IV Early retinal degeneration (erd) in Norwegian elkhounds. Exp Eye Res — PubMed:PMID3496233 | DOI:10.1016/s0014-4835(87)80160-4 — OMIA Phene_Article / Article - 1989. Non-allelism of three genes (rcd1, rcd2, erd) for early-onset hereditary retinal degeneration. Experimental Eye Research — PubMed:PMID2558906 — OMIA Phene_Article / Article - 1999. A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration. Genomics — PubMed:PMID10409424 | DOI:10.1006/geno.1999.5842 — OMIA Phene_Article / Article - 2003. Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd). Gene — PubMed:PMID12909371 — OMIA Phene_Article / Article - 2010. Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics — PubMed:PMID20887780 | DOI:10.1016/j.ygeno.2010.09.003 — OMIA Phene_Article / Article - 2011. Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PLoS One — PubMed:PMID21980341 | DOI:10.1371/journal.pone.0024074 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2013. Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. PLoS One — PubMed:PMID24367709 | DOI:10.1371/journal.pone.0085408 — OMIA Phene_Article / Article - 2014. Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics — PubMed:PMID24581223 | DOI:10.1186/1471-2164-15-172 — OMIA Phene_Article / Article - 2018. Ndr kinases regulate retinal interneuron proliferation and homeostasis. Sci Rep — PubMed:PMID30135513 | DOI:10.1038/s41598-018-30492-9 — OMIA Phene_Article / Article - (3 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:615836 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [391]

Norwich Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Norwich Terrier (Dog) [68]

Norwich Terrier — Diffuse cystic renal dysplasia and hepatic fibrosis (hereditary; OMIA-verified breed predisposition)

Clin feat: Dillard et al. (2018) reported a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis [392]

Pathology: Dillard et al. (2018): The histopathological findings were typical for cystic renal dysplasia in which the cysts were located in the straight portion of the proximal tubule, and thin descending and ascending limbs of Henle’s loop. [392]

Prevalence: Dillard et al. (2018) genotyped the [INPP5E:c.1572+5GA] variant in a cohort of 480 Finnish Norwich Terriers. No other homozygous dogs were found in this cohort while 29 of the analyzed dogs were heterozygous and the association of the variant to the disease was significant (p = 8,377 x 10^−37). The carrier frequency was 6% (29/483) and all carrier dogs were close relatives to the affected puppies.... In addition, the variant was investigated in 200 dogs from 69 breeds and 3 wolves using publicly available whole genome sequencing data.... The variant was not observed in any of the samples. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: PMPCA (Entrez Gene ID 388303165) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Dillard et al. (2018) identified "a case-specific homozygous splice donor site variant in a cilia related gene, INPP5E: c.1572+5G>A. . . . We observed that the identified variant introduces a novel splice site in INPP5E causing a frameshift and formation of a premature stop codon." Evidence (references) - 2018. A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PLoS One — PubMed:PMID30235266 | DOI:10.1371/journal.pone.0204073 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:213300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613037 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [392]

Norwich Terrier — upper airway obstructive syndrome; upper respiratory tract (URT) disorder (hereditary; OMIA-verified breed predisposition)

Disorder: upper airway obstructive syndrome; upper respiratory tract (URT) disorder [393]

Summary: For upper airway obstructive syndrome in brachycephalic dog breeds see also: OMIA:000145-9615: Brachycephalic obstructive airway syndrome in Canis lupus familiaris [393]

Clin feat: Norwich terriers with upper airway obstructive syndrome have normal nasal passages and nostrils. Affected dogs main anatomical abnormalities consisted of mildly elongated soft palates, additional dorsal pharyngeal tissue with elimination of piriform recesses, abnormal laryngeal mucosa, abnormal cuneiform and or corniculate processes, partially or full everted ventricles (saccules) and abnormal keyhole shape to the lower larynx. These changes manifest as respiratory signs of varying severities. Mildly affected dogs have owner reports of intermitted stridor (snoring) or stertor (wheezing). Dogs which are severely affected have been reported to experience severe respiratory distress, collapse and asphyxiation. (Johnson et al., 2013; Marchant et al., 2019) [393]

Prevalence: Marchant et al. (2019): Over 1,300 dogs representing up to 114 diverse breeds including representatives of brachycephalic breeds diagnosed with BOAS [Brachycephalic Obstructive Airway Syndrome] were screened for the c.2789GA variant.... The disease allele frequency (AF) was observed in the Norwich Terrier (AF = 0.57, n = 401), Bulldog (AF = 0.85, n = 41), French Bulldog (AF = 0.12, n = 23), Staffordshire Bull Terrier (AF = 0.125, n = 8), German Spitz (Mittel) (AF = 0.06, n = 8) and Pomeranian (AF = 0.06, n = 8) suggesting the variant may influence BOAS in the French and English Bulldogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249186 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Whole-genome sequencing within the fine-mapped region (see Mapping section) led Marchant et al. (2019) "to the discovery of a c.2786G>A missense variant in exon 20 of the positional candidate gene, ADAM metallopeptidase with thrombospondin type 1 motif 3 (ADAMTS3)" as a likely causal variant. Evidence (references) - 2013. Upper airway obstruction in Norwich Terriers: 16 cases. J Vet Intern Med — PubMed:PMID24112556 | DOI:10.1111/jvim.12206 — OMIA Phene_Article / Article - 2019. An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome. PLoS Genet — PubMed:PMID31095560 | DOI:10.1371/journal.pgen.1008102 — OMIA Phene_Article / Article - 2021. Results of owner questionnaires describing long-term outcome in Norwich terriers with upper airway syndrome: 2011-2018. J Vet Intern Med — PubMed:PMID34076315 | DOI:10.1111/jvim.16180 — OMIA Phene_Article / Article - 2023. The epidemiology of upper respiratory tract disorders in a population of insured Swedish dogs (2011-2014), and its association to brachycephaly. Sci Rep — PubMed:PMID37253809 | DOI:10.1038/s41598-023-35466-0 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:605011 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [393]

Nova Scotia Duck Tolling Retriever — Addison’s disease and multiple autoimmune syndrome, RESF1-related (hereditary; OMIA-verified breed predisposition)

Breed: Nova Scotia Duck Tolling Retriever (Dog) [394]

Clin feat: Brown et al. (2026) juvenile-onset AD [Addison’s disease, hypoadrenocorticism] in NSDTRs [Nova Scotia Duck Tolling Retrievers] represents part of a broader multiple autoimmune syndrome (MAS) with variable expressivity. Strikingly, NSDTRs affected by juvenile-onset AD had severely decreased lifespans, with a median survival of 2 years despite appropriate treatment. [394]

Pathology: Brown et al. (2026): Immunohistochemistry confirmed T cell infiltration in the adrenal cortex of two unrelated [NSDTRs] affected dogs, with necropsy findings including severe bilateral lymphocytic adrenalitis, multisystemic granulomatous inflammation, and lymphoplasmacytic conjunctivitis supporting autoimmune pathogenesis. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299100 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Brown et al. (2026): "Whole-genome, short-read sequencing identified a recessive missense variant in RESF1 (Chr27:29,736,795) [omia.variant:1888]. The variant exhibited 76% penetrance for early-onset disease, and the decreased penetrance was not attributable to differences in Dog Leukocyte Antigen (DLA) haplotypes." Evidence (references) - 2026. A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers. Sci Rep — PubMed:PMID41813921 | DOI:10.1038/s41598-026-42994-y — OMIA Phene_Article / Article - 1997. Hypoadrenocorticism in young related Nova Scotia duck tolling retrievers. Can Vet J — PubMed:PMID9105722 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615621 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [394]

Nova Scotia Duck Tolling Retriever — Cardiomyopathy, dilated, LMNA-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Bannasch et al. (2023): Two 10-month-old sibling Nova Scotia Duck Tolling Retrievers (NSDTR) died acutely with evidence of dilated cardiomyopathy with myocardial fibrosis. Abnormal Rhythm and dilated cardiomyopathy preceded sudden death in two cases. Three other cases presented with sudden death. When available necropsy of four cases showed severe myocardial fibrosis in dogs. All dogs homozygous for the mutant allele exhibited sudden death by 14 months of age. One related heterozygote had sudden death at 5 years of age. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388247742 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Bannasch et al. (2023): "Whole genome sequencing identified a frameshift deletion in the LMNA gene (NC_049228.1:g.41688530del, NP_001274080:p.(Asp576ThrfsTer124)). ... The frameshift does not introduce a premature stop codon and is predicted to result in a mutant protein with 124 altered amino acids at its C-terminus (34 amino acids longer than the wildtype protein). ... Three retrospectively iden… Evidence (references) - 2022. Sudden death and cardiomyopathy associated with LMNA in the Nova Scotia Duck Tolling Retriever. Proceedings of the UC Davis Student Training in Advanced Research (STAR) Symposium — OMIA Phene_Article / Article - 2023. Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever. Sci Rep — PubMed:PMID37925523 | DOI:10.1038/s41598-023-46601-2 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:150330 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:115200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [395]

Nova Scotia Duck Tolling Retriever — Degenerative encephalopathy, RB1CC1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: As summarised by Barker et al. (2016): Clinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2‐weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases. [396]

Pathology: Barker et al. (2016): Postmortem examination of brain tissue identified symmetrical malacia of the caudate nuclei and axonal dystrophy within the brainstem and spinal cord. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298986 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Guo et al. (2025): "Whole genome sequences (WGSs) from the DNA of affected and unaffected Nova Scotia Duck Tolling Retrievers were aligned to the Dog10K_Boxer_Tasha reference genome assembly and to the WGSs of 334 additional control dogs generated by this laboratory. ... A missense C>T variant [omia.variant:1780] was identified in RB1CC1 exon 22 chromosome 29:4891014 that was uniquely homozygou… Evidence (references) - 2016. Degenerative encephalopathy in Nova Scotia Duck Tolling Retrievers presenting with a rapid eye movement sleep behavior disorder. J Vet Intern Med — PubMed:PMID27717189 | DOI:10.1111/jvim.14575 — OMIA Phene_Article / Article - 2025. An RB1CC1 missense variant in Nova Scotia Duck Tolling Retrievers with degenerative encephalopathy. Genes (Basel) — PubMed:PMID40149422 | DOI:10.3390/genes16030269 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606837 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [396]

Nova Scotia Duck Tolling Retriever — Palatoschisis (hereditary; OMIA-verified breed predisposition)

Disorder: Palatoschisis [397]

Summary: See 'OMIA:001140-9615: Cleft lip with or without cleft palate, ADAMTS20-related' for a different form of clef palate in Nova Scotia Duck Tolling retrievers. [397]

Clin feat: As reported by Wolf et al. (2014), this syndrome is best summarised as relative mandibular brachygnathia and cleft palate. As detailed by the same authors, in the syndrome specified as CP1 clefts were characterized by abnormal or missing palatine fissures, missing or small palatine processes of the maxilla, and small, missing, or abnormally shaped palatine bones... The nasal septum was absent or poorly developed....variation from the normal angulation of the condylar process [of mandibles] was observed. These same authors also reported that CP1 NSDTRs [Nova Scotia Duck Tolling Retrievers] had relatively shorter mandibles by an average of 5.46 mm when compared to the normal NSDTRs. [397]

Prevalence: As reported by Wolf et al. (2014), Within the NSDTR breed, 96 dogs were genotyped and 80 NSDTRs did not carry the insertion, while the remaining 16 NSDTRs were heterozygous for the insertion. To determine if the insertion was shared among other breeds, 35 affected dogs from 20 other breeds and 284 unaffected dogs from 69 breeds were genotyped. No carriers were identified. This is consistent with a fully penetrant autosomal recessive causative mutation that is private to the NSDTR breed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249276 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Among the 21 positional candidate genes in the region to which this disorder was mapped (see Mapping section), Wolf et al. (2014) identified two (DLX5 and DLX6) as functional candidates (being transcription factors involved in craniofacial development; and containing causal mutations in mice). Sanger sequencing of the coding regions and conserved introns of these two genes in 1 affected and 1 unaf… Evidence (references) - 2014. A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. PLoS Genet — PubMed:PMID24699068 | DOI:10.1371/journal.pgen.1004257 — OMIA Phene_Article / Article - 2017. Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res — PubMed:PMID28738009 | DOI:10.2460/ajvr.78.8.926 — OMIA Phene_Article / Article - 2022. Management of dental and oral developmental conditions in dogs and cats. Vet Clin North Am Small Anim Pract — PubMed:PMID34838248 | DOI:10.1016/j.cvsm.2021.09.002 — OMIA Phene_Article / Article - 2017. A numerical classification system for cleft lip and palate in the dog. J Small Anim Pract — PubMed:PMID28887848 | DOI:10.1111/jsap.12730 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:261800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600030 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [397]

Nova Scotia Duck Tolling Retriever — Skeletal dysplasia, FGF4-retrogene-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Brown et al. (2017): Relative to the unaffected dog, the mildly SD-affected NSDTR has cranial bowing of the radius. Radiographic changes in the more severely SD-affected NSDTR include moderate cranial bowing of the radius, physeal widening, and incongruity of the elbow joint with the shape of the semilunar notch of the ulna being elongated. [398]

Nova Scotia Duck Tolling Retriever — orofacial cleft; palatoschisis (hereditary; OMIA-verified breed predisposition)

Disorder: orofacial cleft; palatoschisis [399]

Summary: See 'OMIA:001919-9615: Cleft palate 1, DLX6-related' for a different form of cleft palate in Nova Scotia Duck Tolling retrievers. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252259 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Frameshift deletion: c.1360_1361delAA; p.Lys453Ilefs*3 (CanFam 3.1 boxer reference genome) "resulting in premature truncation of 1461 amino acids from the 1916 amino acid protein" (Wolf et al., 2015) Evidence (references) - 1961. The comparative anatomy of cleft lip and palate. I. Classification of cleft lip and palate in dogs. Br J Plast Surg — PubMed:PMID13875838 | DOI:10.1016/s0007-1226(61)80033-7 — OMIA Phene_Article / Article - 2015. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet — PubMed:PMID25798845 | DOI:10.1371/journal.pgen.1005059 — OMIA Phene_Article / Article - 2017. Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res — PubMed:PMID28738009 | DOI:10.2460/ajvr.78.8.926 — OMIA Phene_Article / Article - 2022. Management of dental and oral developmental conditions in dogs and cats. Vet Clin North Am Small Anim Pract — PubMed:PMID34838248 | DOI:10.1016/j.cvsm.2021.09.002 — OMIA Phene_Article / Article - 2017. A numerical classification system for cleft lip and palate in the dog. J Small Anim Pract — PubMed:PMID28887848 | DOI:10.1111/jsap.12730 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:611681 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [399]

Old Danish Pointing Dog — Congenital myasthenic syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Old Danish Pointing Dog (Dog) [400]

Disorder: Congenital myasthenic syndrome [400]

Summary: Congenital myasthenic syndrome is a neuromuscular disorder of Old Danish Pointing Dogs characterized by transient paralysis after exercise. The causative mutation in ChAT causes reduced presynaptic acetylcholine synthesis. A genetic test is available. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT [400]

Clin feat: Affected dogs can run normally for 5 to 30 minutes, but then begin to take shorter and shorter strides. Eventually, they fall down with flexed legs. The signs disappear after several minutes of rest, but will recur if exercise is continued. These dogs have no detectable antibodies against acetylcholine receptors, and have normal numbers of acetylcholine receptors at the neuromuscular junction. In contrast to dogs with myasthenia gravis, neither edrophonium nor neostigmine has any effect on the clinical signs (Proschowsky et al., 2007). [400]

Pathology: The clinical signs are caused by a presynaptic defect that reduces synthesis of acetylcholine in affected dogs (Proschowsky et al., 2007). [400]

Prevalence: Reported cases have been limited to Denmark. [400]

Control: The population of Old Danish Pointing Dogs in Denmark is small, and importation of for breeding purposes is not allowed. All dogs should be tested prior to breeding. To avoid production of affected dogs, but allow for population expansion and gradual eradication of the mutation, carrier dogs may be bred with homozygous normal dogs (Proschowsky et al., 2007). [400]

Gen test: A test is available to Danish breeders of Old Danish Pointing Dogs (Proschowsky et al., 2007). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3484643 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The causative mutation is a G to A substitution in exon 6 of the Choline O-acetyltransferase gene (ChAT). This changes an amino acid codon from valine to methionine (Proschowsky et al., 2007). Evidence (references) - 1993. Development of the Electrophysiological Pattern in Congenital Myasthenic Syndrome. Progress in Veterinary Neurology — OMIA Phene_Article / Article - 2007. Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J Hered — PubMed:PMID17586598 | DOI:10.1093/jhered/esm026 — OMIA Phene_Article / Article - 1982. A new hereditary neuromuscular disease in the dog breed "Gammel Dansk Honsehund". Genetic investigations. Hereditas — PubMed:PMID7201985 | DOI:10.1111/j.1601-5223.1982.tb00851.x — OMIA Phene_Article / Article - 2020. Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats. J Vet Intern Med — PubMed:PMID32668077 | DOI:10.1111/jvim.15855 — OMIA Phene_Article / Article - 2023. Presynaptic congenital myasthenic syndromes: understanding clinical phenotypes through in vivo models. J Neuromuscul Dis — PubMed:PMID37212067 | DOI:10.3233/JND-221646 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:254210 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:118490 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [400]

Old English Sheepdog — Canine hereditary ataxia (hereditary; OMIA-verified breed predisposition)

Breed: Old English Sheepdog (Dog) [325]

Old English Sheepdog — Multiocular defect (hereditary; OMIA-verified breed predisposition)

Disorder: Multiocular defect [401]

Clin feat: Stanbury et al. (2023) Affected dogs typically present with multiple and various ocular abnormalities. These may include cataract, bilateral vitreal degeneration, macrophthalmos, spherophakia, retinal detachment, uveitis and secondary glaucoma. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298857 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Stanbury et al. (2023) "carried out whole genome sequencing on an Old English Sheepdog that had been diagnosed with [multiocular defects]. ... Whole genome sequence filtered variants private to the case, shared with another Old English Sheepdog genome and predicted to be deleterious were genotyped in an initial cohort of six Old English Sheepdogs (three affected by multiocular defect and three con… Evidence (references) - 2023. Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1. PLoS One — PubMed:PMID38153936 | DOI:10.1371/journal.pone.0295851 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:604841 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120280 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [401]

Old English Sheepdog — Primary ciliary dyskinesia (hereditary; OMIA-verified breed predisposition)

Disorder: Primary ciliary dyskinesia [402]

Clin feat: As reported by Merveille et al. (2014), Clinical findings were recurrent nasal discharge and cough, pyrexia, leucocytosis, and bronchopneumonia. [402]

Prevalence: After genotyping 578 OES [Old English Sheepdogs], including 28 affected and 550 clinically healthy dogs for the mutation discovered by Merveille et al. (2011) (see Molecular section), Merveille et al. (2014) reported that The mutation was more frequent in nonrandomly selected European OES population with a higher proportion of carriers (19%) compared to non-European dogs (7%). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3485550 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Sequencing of the six most-likely candidate genes in the CFA34 candidate region (see Mapping section) region identified a nonsense mutation in the CCDC39 gene, which encodes coiled-coil domain-containing protein 39. By searching for CCDC39 mutations in PCD cases in humans (where PCD is a heterogeneous inherited disorder), they were able to identify a new cause of human PCD. This study highlights t… Evidence (references) - 2000. Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. Journal of the American Veterinary Medical Association — PubMed:PMID11110460 — OMIA Phene_Article / Article - 2011. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet — PubMed:PMID21131972 | DOI:10.1038/ng.726 — OMIA Phene_Article / Article - 1984. Immotile cilia syndrome in two Old-English sheep dog littermates. J. Small Anim. Pract. — OMIA Phene_Article / Article - 2014. Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in old English sheepdogs. J Vet Intern Med — PubMed:PMID24773602 | DOI:10.1111/jvim.12336 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613807 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613798 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [402]

Papillon — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Papillon (Dog) [61]

Papillon — Neuroaxonal dystrophy, PLA2G6-related (hereditary; OMIA-verified breed predisposition)

Summary: Neuroaxonal dystrophy in Papillon dogs was fist reported in 1995 in England [Franklin et al., 19851], and has since been reported in several other countries. Tsuboi et al. (2017) identified the likely causal variant. [403]

Clin feat: Tsuboi et al. (2017) investigated three affected Papillon dogs: The affected dogs initially developed intention tremor and hypermetria at a very young age, and the symptoms gradually progressed to cerebellar ataxia, tetraplegia, blindness, and deafness. Onset of disease was between 13-16 weeks of age and death occurred between 7 to 8 month of age. [403]

Pathology: Tsuboi et al. (2017) investigated three affected Papillon dogs: Histopathologically, multiple spheroid formation is observed throughout the central nervous system, including the cerebrum, hippocampus, thalamus, mesencephalon, cerebellum, pons, medulla oblongata, and dorsal horn of the spinal cord, while the peripheral nerves are generally unaffected. [403]

Prevalence: Raj and Giger (2020): Archived samples from Papillons clinically diagnosed with NAD prior to 2015 as well as samples obtained from 660 Papillons from North America and Europe between 2015 and 2017 were screened for the presence of this PLA2G6 gene variant (XM_022424454.1:c.1579G A)..17.5% of the 660 tested Papillons were heterozygotes, resulting in a variant allele frequency of 0.092 in this initial survey. Since then, screening for NAD in Papillons by at least 10 other laboratories and data from the Health Committee of Papillon Club of America gathered between 2017 and 2019 reveal a variant allele frequency of 0.047. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248558 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Tsuboi et al. (2017): PLA2G6 c.1579G>A; p.T526A Evidence (references) - 1995. Neuroaxonal dystrophy in a litter of papillon pups. J Small Anim Pract — PubMed:PMID8583759 | DOI:10.1111/j.1748-5827.1995.tb02774.x — OMIA Phene_Article / Article - 2007. Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J Vet Med Sci — PubMed:PMID17984592 | DOI:10.1292/jvms.69.1047 — OMIA Phene_Article / Article - 2009. Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. Vet Pathol — PubMed:PMID19176506 | DOI:10.1354/vp.08-VP-0156-U-FL — OMIA Phene_Article / Article - 2007. Neuroaxonal dystrophy in dogs: case report in 2 litters of Papillon puppies. J Vet Intern Med — PubMed:PMID17552463 | DOI:10.1892/0891-6640(2007)21[531:ndidcr]2.0.co;2 — OMIA Phene_Article / Article - 2007. Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. J Small Anim Pract — PubMed:PMID17543020 | DOI:10.1111/j.1748-5827.2006.00304.x — OMIA Phene_Article / Article - 2017. Identification of the PLA2G6 c.1579G>A missense mutation in Papillon dog neuroaxonal dystrophy using whole exome sequencing analysis. PLoS One — PubMed:PMID28107443 | DOI:10.1371/journal.pone.0169002 — OMIA Phene_Article / Article - 2020. Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe. Canine Med Genet — PubMed:PMID33292730 | DOI:10.1186/s40575-020-00098-4 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:256600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610217 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612953 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:603604 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [403]

Papillon — Retinal atrophy, progressive, CNGB1-related (hereditary; OMIA-verified breed predisposition)

Summary: Information presented here was initially listed under 'OMIA:000830-9615: Retinal atrophy, progressive'. The CNGB1-related entry was created to distinguish this retinal atrophy from other variants for which the underlying genetic cause is unknown [16/06/2023] [404]

Clin feat: As reported by Ahonen et al. (2013) Papillon breed is affected with an autosomal recessive late onset PRA with a mean onset at 5.6 years of age [Hakanson and Narfstrom, 1995].. affected dogs have a primary loss of the rod photoreceptor cells, followed by loss of cone cell function [Narfstrom and Ekesten, 1998], [Narfstrom and Wrigstad,1999]. The first clinical signs are seen as difficulties in the dim light. The disease progress very slowly and the affected dogs seem to be visually normal throughout their life, as the cone function is fairly well preserved [Narfstrom and Ekesten, 1998], [Narfstrom and Wrigstad,1999]. The ophthalmoscopical signs include increased tapetal reflectivity and retinal vascular attenuation followed by pigment migration in the non-tapetal fundus [Hakanson and Narfstrom, 1995]. [404]

Prevalence: As reported by Winkler et al. (2013), A population study did not identify the CNGB1 mutation in PRA-affected dogs in other breeds and documented that the CNGB1 mutation accounts for ~70% of cases of Papillon PRA in our PRA-affected canine DNA bank. Thus, there are other causal mutations (some most likely in other genes) awaiting discovery in this breed and in other breeds. As reported by Ahonen et al. (2013) a larger cohort of 145 Papillons and Phalènes [had] a carrier frequency of 17.2 %. This breed specific mutation was not present in 334 healthy dogs from 10 other breeds or 121 PRA affected dogs from 44 other breeds. [404]

Control: Petersen-Jones et al. (2019) reported that gene therapy to introduce a normal copy of canine Cngb1a into the rod photoreceptors results in robust, sustained restoration of rod function and retinal structural preservation in Cngb1–/– dogs and represents what we believe to be an important preclinical step toward gene augmentation therapy for human RP45. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388305794 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: In a GWAS on 9 affected, 4 obligate carriers and 10 control Papillon dogs, each genotyped with the Illumina Canine HD BeadChip (yielding 116,235 informative SNPs), Winkler et al. (2013) found no significant associations. They then tried homozygosity mapping, which yielded 13 candidate regions, four of which contained likely candidate genes. Subsequent haplotype analysis and comparative clinical ph… Evidence (references) - 1995. Progressive retinal atrophy in papillon dogs in Sweden: A clinical survey. Vet Comp Ophthalmol — OMIA Phene_Article / Article - 1999. Clinical, electrophysiological and morphological changes in a case of hereditary retinal degeneration in the Papillon dog. Vet Ophthalmol — PubMed:PMID11397244 | DOI:10.1046/j.1463-5224.1999.00049.x — OMIA Phene_Article / Article - 2013. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa. PLoS One — PubMed:PMID23977260 | DOI:10.1371/journal.pone.0072229 — OMIA Phene_Article / Article - 2013. A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy. PLoS One — PubMed:PMID24015210 | DOI:10.1371/journal.pone.0072122 — OMIA Phene_Article / Article - 2018. Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach. J Clin Invest — PubMed:PMID29202463 | DOI:10.1172/JCI95161 — OMIA Phene_Article / Article - 2023. Development of a translatable gene augmentation therapy for CNGB1-Retinitis Pigmentosa. Mol Ther — PubMed:PMID37056049 | DOI:10.1016/j.ymthe.2023.04.005 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article - 2022. Development of retinal bullae in dogs with progressive retinal atrophy. Vet Ophthalmol — PubMed:PMID34708922 | DOI:10.1111/vop.12932 — OMIA Phene_Article / Article - 2025. Gene therapy advances using canine and feline animal models of inherited retinal degeneration. Eye (Lond) — PubMed:PMID40461693 | DOI:10.1038/s41433-025-03825-y — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613767 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600724 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [404]

Parson Russell Terrier — Amelogenesis imperfecta, ENAM-related (hereditary; OMIA-verified breed predisposition)

Breed: Parson Russell Terrier (Dog) [334]

Parson Russell Terrier — Epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Hytönen et al. (2021): The affected dogs develop normally until 6–12 weeks of life before the onset of rapidly worsening seizures, status epilepticus, and death. [405]

Pathology: Hytönen et al. (2021): Histopathological changes at autopsy were restricted to the brain. There was severe acute neuronal degeneration and necrosis diffusely affecting the grey matter throughout the brain with extensive intraneuronal mitochondrial crowding and accumulation of amyloid-β (Aβ). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246109 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Hytönen et al. (2021): "Combined homozygosity mapping and genome sequencing revealed an in-frame 6-bp deletion in the nuclear-encoded pitrilysin metallopeptidase 1 (PITRM1) encoding for a mitochondrial protease involved in mitochondrial targeting sequence processing and degradation. The 6-bp deletion results in the loss of two amino acid residues in the N-terminal part of PITRM1 ... . Assessment o… Evidence (references) - 2021. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Hum Genet — PubMed:PMID33835239 | DOI:10.1007/s00439-021-02279-y — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:618211 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [405]

Patterdale Terrier — Primary lens luxation; isolated canine ectopia lentis; luxatio lentis (hereditary; OMIA-verified breed predisposition)

Breed: Patterdale Terrier (Dog) [100]

Pekingese — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)

Breed: Pekingese (Dog) [137]

Pekingese — Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Soler Arias et al. (2018): The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both [affected] dogs and in the right axillary lymph node in the oldest dog. A follicular thyroid carcinoma was diagnosed by histopathology after thyroidectomy of the older dog. An adenomatous goiter with ectopic thyroid tissue, and degenerative changes in myocardium were the findings after necropsy in the youngest dog. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388250977 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Soler Arias et al. (2018): "A homozygous mutation of the intron 9 splice acceptor site of SLC5A5 gene, encoding the sodium/iodine symporter (NIS), was found in the DNA of one of the affected dogs [the only one from whom a DNA sample could be obtained; the other one having died]. The mutation was a single base transition of guanine > adenine (G > A) at position 45,024,672 of dog chromosome 20… Evidence (references) - 2018. Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs. Domest Anim Endocrinol — PubMed:PMID29777899 | DOI:10.1016/j.domaniend.2018.04.005 — OMIA Phene_Article / Article - 2023. Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLoS Genet — PubMed:PMID36848397 | DOI:10.1371/journal.pgen.1010651 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:274400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601843 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [406]

Pembroke Welsh Corgi — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Pembroke Welsh Corgi (Dog) [68]

Perro de Presa Canario — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)

Breed: Perro de Presa Canario (Dog) [76]

Peruvian Hairless Dog — Canine ectodermal dysplasia (hereditary; OMIA-verified breed predisposition)

Breed: Peruvian Hairless Dog (Dog) [220]

Petit Basset Griffon Vendeen — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)

Breed: Petit Basset Griffon Vendeen (Dog) [137]

Petit Brabancon — isolated growth hormone deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Petit Brabancon (Dog) [198]

Phalène — Retinal atrophy, progressive, CNGB1-related (hereditary; OMIA-verified breed predisposition)

Breed: Phalène (Dog) [404]

Plott Hound — Mucopolysaccharidosis I (hereditary; OMIA-verified breed predisposition)

Breed: Plott Hound (Dog) [182]

Podenco — XX sex reversal, XX DSD testicular/ovotesticular (hereditary; OMIA-verified breed predisposition)

Breed: Podenco (Dog) [60]

Pointer — Malignant hyperthermia (hereditary; OMIA-verified breed predisposition)

Breed: Pointer (Dog) [102]

Polish Lowland Sheepdog — bob-tail, bob tail (hereditary; OMIA-verified breed predisposition)

Breed: Polish Lowland Sheepdog (Dog) [130]

Polish Tatra Sheepdog — progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Polish Tatra Sheepdog (Dog) [327]

Pomeranian — Alopecia, generic (hereditary; OMIA-verified breed predisposition)

Breed: Pomeranian (Dog) [407]

Summary: includes references relating to alopecia X, hair cycle arrest Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Causal variant(s) - Variant: chromosome 3; nt change NM_001048133.1:c.-24_32del; pathogenicity class 6 — OMIA Variant / Variant_Phene - Variant: chromosome 3; nt change NM_001048133.1:c.-24_32del; pathogenicity class 6 — OMIA Variant / Variant_Phene - Variant: chromosome 3; nt change NM_001048133.1:c.-24_32del; pathogenicity class 6 — OMIA Variant / Variant_Phene - Variant: chromosome 3; nt change NM_001048133.1:c.-24_32del; pathogenicity class 6 — OMIA Variant / Variant_Phene - Variant: chromosome 3; nt change NM_001048133.1:c.-24_32del; pathogenicity class 6 — OMIA Variant / Variant_Phene Evidence (references) - 1989. A Familial Alopecia. Veterinary Record — PubMed:PMID2609495 — OMIA Phene_Article / Article - 1991. Alopecia Associated with Coat Color Dilution in 2 Yorkshire Terriers, One Saluki, and One Mix-Breed Dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1994. Fat Absorption in Female Boxer Dogs with Undiagnosed Hormonal Alopecia. Veterinary Record — PubMed:PMID8197698 — OMIA Phene_Article / Article - 1995. Seasonal flank alopecia in affenpinschers. Journal of Small Animal Practice — PubMed:PMID7650925 — OMIA Phene_Article / Article - 1995. Endocrine alopecia in a Miniature Poodle. New Zealand Veterinary Journal — OMIA Phene_Article / Article - 1995. Follicular dysplasia of the portuguese water dog. Veterinary Dermatology — OMIA Phene_Article / Article - 1996. Investigation of the reproductive and growth hormone status of dogs affected by idiopathic recurrent flank alopecia. Journal of Small Animal Practice — PubMed:PMID8887201 — OMIA Phene_Article / Article - 1997. Alopecia in German Shepherds [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1998. Alopecia X in Chows, Pomeranians and Samoyeds. Veterinary Record — PubMed:PMID9746955 — OMIA Phene_Article / Article - 1999. Trachyonychia associated with alopecia areata in a Rhodesian Ridgeback. Veterinary Dermatology — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water spaniels in the United Kingdom. Vet Dermatol — PubMed:PMID34645005 | DOI:10.1046/j.1365-3164.2000.00180.x — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water Spaniels in the United Kingdom (vol 11, pg 107, 2000). Veterinary Dermatology — OMIA Phene_Article / Article - (33 additional references in OMIA) - 1989. A Familial Alopecia. Veterinary Record — PubMed:PMID2609495 — OMIA Phene_Article / Article - 1991. Alopecia Associated with Coat Color Dilution in 2 Yorkshire Terriers, One Saluki, and One Mix-Breed Dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1994. Fat Absorption in Female Boxer Dogs with Undiagnosed Hormonal Alopecia. Veterinary Record — PubMed:PMID8197698 — OMIA Phene_Article / Article - 1995. Seasonal flank alopecia in affenpinschers. Journal of Small Animal Practice — PubMed:PMID7650925 — OMIA Phene_Article / Article - 1995. Endocrine alopecia in a Miniature Poodle. New Zealand Veterinary Journal — OMIA Phene_Article / Article - 1995. Follicular dysplasia of the portuguese water dog. Veterinary Dermatology — OMIA Phene_Article / Article - 1996. Investigation of the reproductive and growth hormone status of dogs affected by idiopathic recurrent flank alopecia. Journal of Small Animal Practice — PubMed:PMID8887201 — OMIA Phene_Article / Article - 1997. Alopecia in German Shepherds [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1998. Alopecia X in Chows, Pomeranians and Samoyeds. Veterinary Record — PubMed:PMID9746955 — OMIA Phene_Article / Article - 1999. Trachyonychia associated with alopecia areata in a Rhodesian Ridgeback. Veterinary Dermatology — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water spaniels in the United Kingdom. Vet Dermatol — PubMed:PMID34645005 | DOI:10.1046/j.1365-3164.2000.00180.x — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water Spaniels in the United Kingdom (vol 11, pg 107, 2000). Veterinary Dermatology — OMIA Phene_Article / Article - (33 additional references in OMIA) - 1989. A Familial Alopecia. Veterinary Record — PubMed:PMID2609495 — OMIA Phene_Article / Article - 1991. Alopecia Associated with Coat Color Dilution in 2 Yorkshire Terriers, One Saluki, and One Mix-Breed Dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1994. Fat Absorption in Female Boxer Dogs with Undiagnosed Hormonal Alopecia. Veterinary Record — PubMed:PMID8197698 — OMIA Phene_Article / Article - 1995. Seasonal flank alopecia in affenpinschers. Journal of Small Animal Practice — PubMed:PMID7650925 — OMIA Phene_Article / Article - 1995. Endocrine alopecia in a Miniature Poodle. New Zealand Veterinary Journal — OMIA Phene_Article / Article - 1995. Follicular dysplasia of the portuguese water dog. Veterinary Dermatology — OMIA Phene_Article / Article - 1996. Investigation of the reproductive and growth hormone status of dogs affected by idiopathic recurrent flank alopecia. Journal of Small Animal Practice — PubMed:PMID8887201 — OMIA Phene_Article / Article - 1997. Alopecia in German Shepherds [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1998. Alopecia X in Chows, Pomeranians and Samoyeds. Veterinary Record — PubMed:PMID9746955 — OMIA Phene_Article / Article - 1999. Trachyonychia associated with alopecia areata in a Rhodesian Ridgeback. Veterinary Dermatology — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water spaniels in the United Kingdom. Vet Dermatol — PubMed:PMID34645005 | DOI:10.1046/j.1365-3164.2000.00180.x — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water Spaniels in the United Kingdom (vol 11, pg 107, 2000). Veterinary Dermatology — OMIA Phene_Article / Article - (33 additional references in OMIA) - 1989. A Familial Alopecia. Veterinary Record — PubMed:PMID2609495 — OMIA Phene_Article / Article - 1991. Alopecia Associated with Coat Color Dilution in 2 Yorkshire Terriers, One Saluki, and One Mix-Breed Dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1994. Fat Absorption in Female Boxer Dogs with Undiagnosed Hormonal Alopecia. Veterinary Record — PubMed:PMID8197698 — OMIA Phene_Article / Article - 1995. Seasonal flank alopecia in affenpinschers. Journal of Small Animal Practice — PubMed:PMID7650925 — OMIA Phene_Article / Article - 1995. Endocrine alopecia in a Miniature Poodle. New Zealand Veterinary Journal — OMIA Phene_Article / Article - 1995. Follicular dysplasia of the portuguese water dog. Veterinary Dermatology — OMIA Phene_Article / Article - 1996. Investigation of the reproductive and growth hormone status of dogs affected by idiopathic recurrent flank alopecia. Journal of Small Animal Practice — PubMed:PMID8887201 — OMIA Phene_Article / Article - 1997. Alopecia in German Shepherds [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1998. Alopecia X in Chows, Pomeranians and Samoyeds. Veterinary Record — PubMed:PMID9746955 — OMIA Phene_Article / Article - 1999. Trachyonychia associated with alopecia areata in a Rhodesian Ridgeback. Veterinary Dermatology — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water spaniels in the United Kingdom. Vet Dermatol — PubMed:PMID34645005 | DOI:10.1046/j.1365-3164.2000.00180.x — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water Spaniels in the United Kingdom (vol 11, pg 107, 2000). Veterinary Dermatology — OMIA Phene_Article / Article - (33 additional references in OMIA) - 1989. A Familial Alopecia. Veterinary Record — PubMed:PMID2609495 — OMIA Phene_Article / Article - 1991. Alopecia Associated with Coat Color Dilution in 2 Yorkshire Terriers, One Saluki, and One Mix-Breed Dog. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1994. Fat Absorption in Female Boxer Dogs with Undiagnosed Hormonal Alopecia. Veterinary Record — PubMed:PMID8197698 — OMIA Phene_Article / Article - 1995. Seasonal flank alopecia in affenpinschers. Journal of Small Animal Practice — PubMed:PMID7650925 — OMIA Phene_Article / Article - 1995. Endocrine alopecia in a Miniature Poodle. New Zealand Veterinary Journal — OMIA Phene_Article / Article - 1995. Follicular dysplasia of the portuguese water dog. Veterinary Dermatology — OMIA Phene_Article / Article - 1996. Investigation of the reproductive and growth hormone status of dogs affected by idiopathic recurrent flank alopecia. Journal of Small Animal Practice — PubMed:PMID8887201 — OMIA Phene_Article / Article - 1997. Alopecia in German Shepherds [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1998. Alopecia X in Chows, Pomeranians and Samoyeds. Veterinary Record — PubMed:PMID9746955 — OMIA Phene_Article / Article - 1999. Trachyonychia associated with alopecia areata in a Rhodesian Ridgeback. Veterinary Dermatology — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water spaniels in the United Kingdom. Vet Dermatol — PubMed:PMID34645005 | DOI:10.1046/j.1365-3164.2000.00180.x — OMIA Phene_Article / Article - 2000. An analysis of factors underlying hypotrichosis and alopecia in Irish Water Spaniels in the United Kingdom (vol 11, pg 107, 2000). Veterinary Dermatology — OMIA Phene_Article / Article - (33 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:104000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104110 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:203655 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612421 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610753 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300042 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300710 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104110 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:203655 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612421 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610753 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300042 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300710 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104110 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:203655 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612421 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610753 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300042 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300710 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104110 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:203655 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612421 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610753 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300042 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300710 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:104110 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:203655 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:612421 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610753 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300042 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:109200 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:300710 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [407]

Pomeranian — Vitamin D-deficiency rickets, type II (hereditary; OMIA-verified breed predisposition)

Summary: Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 27954922 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: LeVine et al. (2009) reported "A unique single base deletion (guanine) was identified at the exon 4-intron junction . . . in the affected dog's genomic DNA" Evidence (references) - 2009. Hereditary 1,25-dihydroxyvitamin D-resistant rickets in a Pomeranian dog caused by a novel mutation in the vitamin D receptor gene. J Vet Intern Med — PubMed:PMID19909429 | DOI:10.1111/j.1939-1676.2009.0405.x — OMIA Phene_Article / Article - 2021. Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract — PubMed:PMID34323302 | DOI:10.1111/jsap.13401 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:277440 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601769 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [408]

Poodle — Coat colour, dark red (hereditary; OMIA-verified breed predisposition)

Breed: Poodle (Dog) [409]

Summary: Batcher et al. (2022): The Poodle breed has a wide range of officially recognized coat colors, including the pheomelanin-based white, cream, apricot and red coat colors, which are not fully explained by the previously identified genetic variants involved in pigment intensity. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388303175 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Batcher et al. (2022): "Whole genome sequencing data revealed an SNN retrocopy insertion (SNNL1) in apricot and red Poodles within the associated region on chromosome 18. ... Sanger sequencing confirmed the insertion as a full length SNN retrocopy ..., referred to here as SNNL1. SNNL1 is inserted within the intron of COG5 and 2.8kbp upstream of and in the same orientation as GPR22. The SNNL1 retro… Evidence (references) - 2022. An SNN retrocopy insertion upstream of GPR22 is associated with dark red coat color in Poodles. G3 (Bethesda) — PubMed:PMID36047852 | DOI:10.1093/g3journal/jkac227 — OMIA Phene_Article / Article [409]

Poodle, Miniature — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Poodle, Miniature (Dog) [68]

Poodle, Miniature — Ichthyosis, syndromic (hereditary; OMIA-verified breed predisposition)

Disorder: Ichthyosis, syndromic [410]

Mode of inheritance: Dominant [410]

Clin feat: Kiener et al. (2024) investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth. [410]

Pathology: Histopathological examination of the affected miniature poodle revealed mild epidermal hyperplasia and lamellar orthokeratotic hyperkeratosis (Kiener et al. 2024) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298916 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Kiener et al. (2024) "sequenced the whole genome of the affected [miniature poodle] dog and searched for potentially causative variants in functional candidate genes for the observed phenotype. The analysis revealed a heterozygous in-frame deletion in DSP, NC_049256.1:g.8804542_8804544del resulting from a de novo mutation event as evidenced by genotyping leukocyte DNA from both parents. T… Evidence (references) - 2024. Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities. Anim Genet — PubMed:PMID39136317 | DOI:10.1111/age.13467 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:125647 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615821 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [410]

Poodle, Miniature — Osteochondrodysplasia; pseudoachondroplastic dysplasia (hereditary; OMIA-verified breed predisposition)

Disorder: Osteochondrodysplasia; pseudoachondroplastic dysplasia [411]

Summary: Information relating to this phene was initially listed under OMIA 001315-9615: Osteochondrodysplasia in Canis lupus familiaris [411]

Clin feat: As summarised by Neff et al. (2012): Affected pups soon exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws, and elongated and misshapen paws that resemble clubfoot.... Radiographic stippling is found at the epiphyses, reflecting aberrant conversion of cartilage to bone. The vertebrae are often beaked at their ventral surface, a clinical hallmark of several human skeletal dysplasias. The stiffness of joints that is profound in young affected dogs lessens with maturation, but mobility remains restricted and arthritis is a common sequelae. [411]

Prevalence: As reported by Neff et al. (2012) A survey of Miniature Poodle dogs from the United States provided an allele frequency of 5%, suggesting a carrier frequency of approximately 10% (assuming HWE and no ascertainment biases in sampling). This frequency may differ among other geographic subpopulations and other varieties of Poodle. Reports of the disorder in European dogs 40–50 years ago suggest the mutation is now broadly distributed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249353 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: As reported by Neff et al. (2012), "The SNP pattern [from the GWAS] suggested the presence of a spontaneous deletion" which was confirmed by FISH analysis. Further analysis revealed a 130kb deletion which "ablated all but the first exon of SLC13A1, a sodium/sulfate symporter responsible for regulating serum levels of inorganic sulfate". Evidence (references) - 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article - 2012. Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. PLoS One — PubMed:PMID23300579 | DOI:10.1371/journal.pone.0051917 — OMIA Phene_Article / Article - 1961. On achondroplasia in the dog. Zentralblatt fur Veterinaermed — OMIA Phene_Article / Article - 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article - 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article - 1956. A case of epiphyseal dsyplasia in a dog. Veterinary Record — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606193 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [411]

Poodle, Standard — Amelogenesis imperfecta, ENAM-related (hereditary; OMIA-verified breed predisposition)

Breed: Poodle, Standard (Dog) [334]

Poodle, Standard — Neonatal encephalopathy with seizures, ATF2-related (hereditary; OMIA-verified breed predisposition)

Summary: The disorder is characterized by pups that are small at birth, fail to nurse or thrive, then develop neurological signs and usually die by 7 weeks of age. A genetic test is available. [412]

Clin feat: Affected puppies are small at birth and do not develop normally. They initially nurse poorly, but begin nursing sufficiently after several days (Chen et al., 2008). At approximately 3 weeks of age, weakness, ataxia, whole-body tremors, wide-based stance with increased extensor tone, and axial muscle weakness with neck ventroflexion is observed. Affected pups do not interact with the dam or littermates and have slow responses to external stimuli (Chen et al., 2008). At approximately 3 to 6 weeks of age, affected puppies develop generalized clonic-tonic seizures that quickly become refractory to treatment. They become laterally recumbent with extensor rigidity and opisthotonus, and usually die or are euthanized before 7 weeks of age (Chen et al., 2008; Yu et al. 2020). [412]

Pathology: The cerebellum is smaller than normal and contains dysplastic foci of cells from the granular layer intermixed with those from the Purkinje layer (Chen et al., 2008). Yu et al. (2020): Magnetic resonance imaging showed reduced whole-brain size, dilated ventricles, developmental abnormalities of the white matter of the cerebrum, white matter signal abnormalities in the occipital lobe, and abnormal morphology of the cerebellum. Histopathology included previously unrecognized irregular neuronal migration in the subventricular zone around the lateral ventricles in the frontal lobe and white matter rarefaction especially at the level of the occipital lobe in the cerebrum.,. [412]

Prevalence: Of 1038 standard poodles genotyped, 36% were carriers and 2.7% were affected (Chen et al., 2008). [412]

Control: Relatives of affected pups should be tested to identify carriers. Matings of carriers is discouraged, although breeding them to noncarriers will avoid production of affected pups. [412]

Poodle, Standard — day blindness / retinal degeneration (hereditary; OMIA-verified breed predisposition)

Disorder: day blindness / retinal degeneration [413]

Clin feat: Murgiano et al. (2025): Affected dogs had severe vision deficits present at a young age, generally before 2–3 months of age, and characterized by very poor to absent vision under photopic conditions, but with no evidence of photophobia.. Full-field electroretinography (ERG) was used for objective assessment of retinal function.. cone ERG responses were absent as early as 7 weeks of age. We also found that as early as 15 weeks of age, rod responses were reduced by ~60–80% in dogs that showed no vascular attenuation or generalized hyperreflectivity.. Over time, rod responses were further decreased and no longer recordable, and the ERG was considered ‘extinguished’. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299074 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Murgiano et al. (2025): "Through GWAS and homozygosity mapping, a large deletion on CFA8:NC_049229.1:g.60,022,583_60,040,453del was found which removes 3’ portions of two different genes, PTPN21 and SPATA7 ... ." The authors propose that the effect on the functional candidate gene SPATA7 is disease causing: "The variant leads to a deletion of the 3’-end of the SPATA7 tra… Evidence (references) - 2025. Two genes, one culprit - a functional candidate validation of a SPATA7 deletion in dogs with day blindness/retinal degeneration. PLoS Genet — PubMed:PMID41325489 | DOI:10.1371/journal.pgen.1011961 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:609868 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604232 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [413]

Poodle, Toy — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Poodle, Toy (Dog) [68]

Portuguese Podengo — Primary lens luxation; isolated canine ectopia lentis; luxatio lentis (hereditary; OMIA-verified breed predisposition)

Breed: Portuguese Podengo (Dog) [100]

Portuguese Water Dog — Canine congenital microphthalmos with hematopoietic defects (hereditary; OMIA-verified breed predisposition)

Breed: Portuguese Water Dog (Dog) [414]

Disorder: Canine congenital microphthalmos with hematopoietic defects [414]

Clin feat: Murgiano et al. (2024) report a syndromic disorder characterized by microphthalmia, tooth enamel malformations, stunted growth, anemia, and thrombocytopenia in the Portuguese water dog. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298888 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Murgiano et al. (2024): "Whole-genome sequencing and mapping against the Canfam4 reference revealed a Short interspersed element insertion in exon 2 of the DNAJC1 gene (g.74,274,883ins[T70]TGCTGCTTGGATT). Subsequent real-time PCR-based mass genotyping of a larger Portuguese water dog population found that the homozygous mutant genotype was perfectly associated with the Canine Congenital Microphtha… Evidence (references) - 2024. A naturally occurring canine model of syndromic congenital microphthalmia. G3 (Bethesda) — PubMed:PMID38682429 | DOI:10.1093/g3journal/jkae067 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:617048 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617052 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [414]

Portuguese Water Dog — Generalized PRA (gPRA), early‑onset progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)

Disorder: Generalized PRA (gPRA), early‑onset progressive retinal atrophy [415]

Clin feat: Lippman et al. (2007): gPRA in Schapendoes is characterized by late onset and slow progression.. Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years. Murgiano et al. (2020) describe the clinical signs in Portugese water dogs:.visual deficits, including difficulty following moving objects and walking into still objects, which were reportedly worse under dim light, consistent with nyctalopia. These signs became progressively worse, compromising the animals’ vision under both dim and well-lit conditions. The age of onset was determined by the time point at which the visual deficits became noticeable to the owners or when ophthalmoscopic abnormalities were first noted. The male proband and the two affected females had decreased vision per the owner at initial presentation and were diagnosed ophthalmoscopically as EOPRA with an age of onset at 2 years. A second male dog had no obvious visual deficit per the owner at initial presentation at age 2 years and had unremarkable fundus when examined ophthalmoscopically. However, peripapillar changes suggestive of PRA developed by 3 years of age at which time electroretinography (ERG) was recommended but declined. This dog was re-examined at 6 years of age when visual impairment was evident, ERGs were undetectable., and ophthalmoscopic changes were consistent with mid-stage disease. The ophthalmoscopic changes observed were common in all affected dogs, characterized by generalized tapetal hyper-reflectivity, diffuse vascular attenuation, optic disc pallor, and multifocal depigmenta-tion of the non-tapetal fundus.. A feature that was unique to this disease in all affected dogs was a distinct peripapillary ring of hyper-reflectivity or peripapillary conus., which progressed into a broader zone of hyper-reflectivity around the optic disc in advanced disease.. [415]

Pathology: Lippman et al. (2007): Compared to a normal retina., the gPRA-affected eyes of a five year old Schapendoes displayed typical degeneration signs in peripheral and central areas.. The outer retina with the photoreceptor layer and the outer nuclear layer was missing in all retinal parts investigated. The inner retina showed reduced inner nuclear and inner plexiform layers, whereas the ganglion cell layer appeared comparatively preserved. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26582962 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Dekomien et al. (2010): "Mutation screening of the CCDC66 gene revealed a 1-bp insertion in exon 6 leading to a stop codon as the underlying cause of disease" for generalized progressive retinal atrophy on in the Schapendoes breed. Murgiano et al. (2020): "Whole‑genome sequencing in one affected [Portugese water] dog and its obligatory carrier parents identified a 1 bp insertion (CFA20:g.33,717,70… Evidence (references) - 2010. Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics — PubMed:PMID19777273 | DOI:10.1007/s10048-009-0223-z — OMIA Phene_Article / Article - 2007. Haplotype-defined linkage region for gPRA in Schapendoes dogs. Mol Vis — PubMed:PMID17327822 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2020. CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Sci Rep — PubMed:PMID33273526 | DOI:10.1038/s41598-020-77980-5 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article [415]

Pug — Canine atopic dermatitis (CAD) (hereditary; OMIA-verified breed predisposition)

Breed: Pug (Dog) [185]

Pug — May-Hegglin anomaly (hereditary; OMIA-verified breed predisposition)

Clin feat: Flatland et al. (2011): An 8-year-old female spayed Pug dog was presented for evaluation of cutaneous lesions occurring secondary to immunosuppressive treatment of presumed immune-mediated thrombocytopenia. Abnormal hematologic findings included persistent thrombocytopenia, macrothrombocytes, and variably shaped, often fusiform, blue cytoplasmic inclusions in neutrophils. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 23857153 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Flatland et al. (2011): "genomic DNA sequencing analysis of the dog's MYH9 gene identified a single point mutation, resulting in substitution of lysine for glutamine at the 1841 amino acid position; this mutation is identical to one identified in people with MHA." Evidence (references) - 2011. May-Hegglin anomaly in a dog. Vet Clin Pathol — PubMed:PMID21554370 | DOI:10.1111/j.1939-165X.2011.00320.x — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:155100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:160775 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [416]

Pug — Vitamin D-deficiency rickets, type IA (hereditary; OMIA-verified breed predisposition)

Pathology: Rhodin et al. (2023) Necropsy [of affected pugs] revealed tongue-like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388248469 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Rhodin et al. (2023) "A truncating mutation in the 1α-hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A." Evidence (references) - 1988. Vitamin D-dependent rickets in a Saint Bernard dog. Journal of Small Animal Practice — DOI:10.1111/j.1748-5827.1988.tb02165.x — OMIA Phene_Article / Article - 2021. Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract — PubMed:PMID34323302 | DOI:10.1111/jsap.13401 — OMIA Phene_Article / Article - 2023. Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs. J Vet Intern Med — PubMed:PMID37293695 | DOI:10.1111/jvim.16791 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:264700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609506 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [417]

Puli — Bardet-Biedl syndrome 4 (hereditary; OMIA-verified breed predisposition)

Breed: Puli (Dog) [418]

Summary: This disorder is a form of progressive retinal atrophy (PRA). [418]

Clin feat: Chew et al. (2017; Animal Genetics): Diagnosis was based on ophthalmologic changes observed including vascular attenuation, hyper-reflectivity and reduced myelination in the optic nerve head. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388252966 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Chew et al. (2017; Animal Genetics) excluded 53 candidate loci in a screen of WGS data from a Hungarian Puli family trio (normal sire, normal dam and proband offspring) and from an affected half sib of the proband. By combining the above WGS data with SNP genotyping data from the CanineHD BeadChip array, Chew et al. (2017; G3) identified a likely causal variant as "A single nonsense SNP in exon 2 … Evidence (references) - 2017. Exclusion of known progressive retinal atrophy genes for blindness in the Hungarian Puli. Anim Genet — PubMed:PMID28378943 | DOI:10.1111/age.12553 — OMIA Phene_Article / Article - 2017. A coding variant in the gene Bardet-Biedl syndrome 4 (BBS4) is associated with a novel form of canine progressive retinal atrophy. G3 (Bethesda) — PubMed:PMID28533336 | DOI:10.1534/g3.117.043109 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615982 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:604327 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [418]

Pyrenean Mountain Dog — Cleft lip and palate (hereditary; OMIA-verified breed predisposition)

Breed: Pyrenean Mountain Dog (Dog) [186]

Pyrenean Shepherd — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified breed predisposition)

Breed: Pyrenean Shepherd (Dog) [330]

Rat Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Rat Terrier (Dog) [68]

Redbone Coonhound — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Redbone Coonhound (Dog) [61]

Rhodesian Ridgeback — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Rhodesian Ridgeback (Dog) [68]

Rhodesian Ridgeback — Early onset adult deafness (hereditary; OMIA-verified breed predisposition)

Disorder: Early onset adult deafness [419]

Clin feat: Kawakami et al. (2022): Rhodesian Ridgebacks exhibit a progressive postnatal deafness which may be observed as early as four months of age but more commonly observed within 1–2 years after birth.... This form of deafness, hereafter referred to as early onset adult deafness (EOAD), does not appear to be restricted to a specific bloodline because it has been identified in multiple Rhodesian Ridgeback populations, including North America, Europe, and Africa.... All affected dogs are visually indistinguishable from dogs with normal hearing by having fully pigmented coat, eyes, and noses, indicating that EOAD in Rhodesian Ridgebacks likely has a different genetic basis from pigmentation-related deafness. In their 2022 study, Kawakami et al. identified 23 EOAD-affected Rhodesian Ridgebacks (11 males and 12 females) that were confirmed deaf by BAER testing; these dogs lost their hearing approximately from 6 months to 24 months after birth. All of the dogs were bilaterally deaf. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389509222 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Using "targeted Sanger sequencing analysis" of the CFA18 candidate region, Kawakami et al. (2022) "identified a 12-bp inframe deletion in EPS8L2 (CFA18:25,868,739-25,868,751 in the UMICH_Zoey_3.1/canFam5 reference genome build). Additional genotyping confirmed a strong association between the 12-bp deletion and EOAD, where all affected dogs were homozygous for the deletion, while none of the contr… Evidence (references) - 2012. Canine deafness. Vet Clin North Am Small Anim Pract — PubMed:PMID23122177 | DOI:10.1016/j.cvsm.2012.08.010 — OMIA Phene_Article / Article - 2015. The genetics of deafness in domestic animals. Front Vet Sci — PubMed:PMID26664958 | DOI:10.3389/fvets.2015.00029 — OMIA Phene_Article / Article - 2022. Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene. PLoS One — PubMed:PMID35385474 | DOI:10.1371/journal.pone.0264365 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:617637 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614988 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [419]

Rhodesian Ridgeback — Epilepsy, generalized myoclonic, with photosensitivity (hereditary; OMIA-verified breed predisposition)

Clin feat: Affected Rhodesian Ridgeback (RR) dogs present with frequent myoclonic twitches that tend to begin between the age of 6 weeks and 18 months old. These episodes can be triggered by visual stimuli including flashing lights, sudden light exposure or flickering light (Wielaender et al., 2017). Generally, episodes begin when animals are recumbent and relaxed, but occasionally occur when dogs are standing (Wielaender et al., 2017). Twitches are mainly seen in the musculature of the trunk and proximal limb, as well as in cervical musculature and masticatory muscles (Wielaender et al., 2017). In 38% of dogs, the disease advanced to generalised tonic-clonic seizures within 6 months (Wielaender et al., 2017). No changes in behaviour have been noted prior to seizure episodes (Wielaender et al., 2017). Wielaender et al., 2018: Absence seizures represent another seizure type in juvenile myoclonic epilepsy (JME) in RR dogs. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388251186 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Wielaender et al. (2017): "a 4-bp deletion in the exon 2 of the DIRAS1 gene (c.564_567delAGAC . . . CanFam3 . . . , resulting in a frameshift and a stop loss. . . . The genotyping of the DIRAS1 deletion in 14 clinically verified RR cases and 26 controls revealed a homozygous mutant genotype in all cases, a heterozygous genotype in the obligate carriers, and the homozygous wild-type genotype in c… Evidence (references) - 2017. Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Proc Natl Acad Sci U S A — PubMed:PMID28223533 | DOI:10.1073/pnas.1614478114 — OMIA Phene_Article / Article - 2018. Absence seizures as a feature of juvenile myoclonic epilepsy in Rhodesian Ridgeback dogs. J Vet Intern Med — PubMed:PMID29194766 | DOI:10.1111/jvim.14892 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:607862 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [420]

Romanian Mioritic Shepherd Dog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Romanian Mioritic Shepherd Dog (Dog) [68]

Rottweiler — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Rottweiler (Dog) [68]

Rottweiler — Hereditary footpad hyperkeratosis (HFH) (hereditary; OMIA-verified breed predisposition)

Disorder: Hereditary footpad hyperkeratosis (HFH) [421]

Clin feat: Backel et al. (2020): A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: DSG-1 (Entrez Gene ID 388198946) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Backel et al. (2020) "sequenced the genome of the affected dog and compared the data to 655 control genomes. A search for variants in 32 candidate genes associated with human palmoplantar keratoderma (PPK) revealed a single private protein-changing variant in the affected dog. This was located in the DSG1 gene encoding desmoglein 1. . . . The identified canine variant, DSG1:c.2541_2545delGGGCT, le… Evidence (references) - 2020. A DSG1 frameshift variant in a Rottweiler dog with footpad hyperkeratosis. Genes (Basel) — PubMed:PMID32344723 | DOI:10.3390/genes11040469 — OMIA Phene_Article / Article - 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:148700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615508 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:125670 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [421]

Rottweiler — Hypothyroidism and dwarfism, TG-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Abitbol et al. (2026) reported on a total of 6 affected dogs with non-goitrous hypothyroidism. Their breeders had noticed delayed growth and development two weeks after birth. Affected dogs had increased thyroid-stimulating hormone (TSH) and decreased total thyroxin (total T4) serum concentrations. The condition can be alleviated by oral thyroxin supplementation. However, even under T4 supplementation, the majority of the affected dogs exhibited pronounced dwarfism and painful orthopedic problems. Two affected dogs died at 9 and 10 months, respectively, despite oral thyroxin supplementation. Two other affected dogs had to be euthanised at 5 months of age due to pain and behavioral changes. Two affected dogs reached adulthood under thyroxin supplementation. They were markedly smaller than their non-affected littermates. Other clinical signs included limb deformities, shortening of the tail, abnormally thick skin, fatigue, and behavioral changes. [422]

Pathology: Abitbol et al. (2026): Histopathological examination of the thyroid glands of two affected females (cases #4 and #5) revealed diffuse alterations involving the entire gland in both animals. Thyroid follicles were small and irregularly shaped (atrophic), with empty follicular lumina indicating absence of colloid, and were lined by flattened to cuboidal follicular epithelium. Multifocally, normal follicular architecture was replaced by aggregates of parafollicular cells (C cells), consistent with C-cell hyperplasia. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299108 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Abitbol et al. (2026) sequenced the genome of an affected Rottweiler at 23x coverage and compared the data to genomes of 1539 genetically diverse other dogs. The "affected dog had 11 homozygous private protein-changing variants, of which only one resided in a functional candidate gene for hypothyroidism" (Abitbol et al. 2026). The identified candidate causal variant was a nonsense variant in T… Evidence (references) - 2011. Congenital hypothyroidism of dogs and cats: A review. N Z Vet J — PubMed:PMID21541884 | DOI:10.1080/00480169.2011.567964 — OMIA Phene_Article / Article - 2026. TG nonsense variant in dwarf Rottweiler dogs. Anim Genet — PubMed:PMID42173671 | DOI:10.1002/age.70127 — OMIA Phene_Article / Article - 2024. Paediatric thyroid disease. Clin Endocrinol (Oxf) — PubMed:PMID39072866 | DOI:10.1111/cen.15110 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:188450 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:274700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [422]

Rottweiler — Neuroaxonal dystrophy, VPS11-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Lucot et al. (2018):Rottweiler NAD was first reported in the early 1980s and is characterized by a young adult age of onset with mild progression of clinical signs, typically including postural deficits, ataxia, hypermetria, intention tremor and nystagmus. Some clinical signs will develop at an older age (3-5 years old), these include head bobbing, head tremor, nystagmus and menace deficit (Chrisman, 1992). [423]

Pathology: Lucot et al. (2018): “Clinical signs reflect the predominantly sensory topographical distribution of pathology within the central nervous system, (CNS) consisting of mild cerebellar atrophy, large number of axonal spheroids, and demyelination of axons in the vestibular nucleus, lateral and medial geniculate nuclei sensory nucleus of the trigeminal nerve, gracilis and cuneate nuclei, and in the spinal cord dorsal horn.” Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388254089 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Lucot et al. (2018): "Whole-genome sequencing of two histopathologically confirmed canine NAD cases and 98 dogs unaffected with NAD revealed a homozygous missense mutation within the Vacuolar Protein Sorting 11 (VPS11) gene (g.14777774T>C; p.H835R) that was associated with the phenotype". Evidence (references) - 2001. Juvenile neuroaxonal dystrophy in a Rottweiler: accumulation of synaptic proteins in dystrophic axons. Acta Neuropathol — PubMed:PMID11699565 | DOI:10.1007/s004010100386 — OMIA Phene_Article / Article - 1988. Neuroaxonal dystrophy in a Rottweiler pup. J Am Vet Med Assoc — PubMed:PMID3410773 — OMIA Phene_Article / Article - 1984. Neuroaxonal dystrophy of Rottweiler dogs. J Am Vet Med Assoc — PubMed:PMID6698879 — OMIA Phene_Article / Article - 1983. Canine neuroaxonal dystrophy. J Neuropathol Exp Neurol — PubMed:PMID6842267 | DOI:10.1097/00005072-198305000-00006 — OMIA Phene_Article / Article - 2018. A missense mutation in the vacuolar protein sorting 11 (VPS11) gene is associated with neuroaxonal dystrophy in Rottweiler dogs. G3 (Bethesda) — PubMed:PMID29945969 | DOI:10.1534/g3.118.200376 — OMIA Phene_Article / Article - 1992. Neurological diseases of Rottweilers: Neuroaxonal dystrophy and leukoenceph- alomalacia. Journal of Small Animal Practice — DOI:doi.org/10.1111/j.1748-5827.1992.tb01033.x — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:616683 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608549 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [423]

Rottweiler — Nonsyndromic hearing loss (hereditary; OMIA-verified breed predisposition)

Disorder: Nonsyndromic hearing loss [424]

Clin feat: Hytönen et al. (2021): Sensorineural bilateral deafness was diagnosed in four Rottweiler siblings (one female and three males) in a litter of ten puppies using brainstem auditory evoked response (BAER) testing. BAER testing was performed either at 4 (n = 2), 5, or 19 months of age, and no auditory response was detected in any of them. However, owners’ observations suggested that the puppies had already been affected by hearing impairment at a few weeks of age. No other clinical signs were observed. [424]

Prevalence: Hytönen et al. (2021): The allele frequency in the population [of Rottweilers], excluding the affected family, was 2.6% and carrier frequency 5.3%. An additional sample of dogs submitted for commercial genetic testing was screened for the LOXHD1 variant to explore its distribution across breeds. All 28,116 tested dogs representing 374 breeds, breed varieties or designer dog mixes were found homozygous for the wild-type allele (Online Resource 7). Finally, the variant was also screened in a larger study sample of 771,864 dogs submitted to genetic testing, including breed detection assessment. A variant carrier frequency of 0.08% and allele frequency of 0.04% were observed in this dataset. Interestingly, six dogs were found homozygous for the LOXHD1 variant. We were able to contact the owners of 4/6 of the homozygous dogs and the owners reported profound hearing loss or deafness in all of them. One of the deaf dogs did not show any immediate Rottweiler ancestry, while one was a purebred Rottweiler and two were mixed-breed with Rottweiler ancestry. Altogether, of the dogs carrying at least one copy of the deafness candidate variant, 63.4% showed evidence of Rottweiler ancestry in their immediate three-generation pedigree going back to great-grandparents, providing further support for a link between this specific breed background and the presence of the variant. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388254896 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Using "a combined approach of homozygosity mapping and genome sequencing to dissect the genetic background of the disorder . . . . [Hytönen et al. (2021)] identified a fully segregating missense variant [chr7:44,806,821G>C; p.(G1914A)] in LOXHD1, a gene that is known to be essential for cochlear hair cell function and associated with nonsyndromic hearing loss in humans and mice." Evidence (references) - 1996. Aetiology, prevalence and diagnosis of deafness in dogs and cats [Review]. Br Vet J — PubMed:PMID8634862 | DOI:10.1016/s0007-1935(96)80083-2 — OMIA Phene_Article / Article - 2021. Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss. Hum Genet — PubMed:PMID33983508 | DOI:10.1007/s00439-021-02286-z — OMIA Phene_Article / Article - 2001. An original inner ear neuroepithelial degeneration in a deaf Rottweiler puppy. Hear Res — PubMed:PMID11744282 | DOI:10.1016/s0378-5955(01)00354-9 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:613079 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613072 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [424]

Russell Terrier — Spinocerebellar ataxia with myokymia, seizures or both (SAMS); spongy degeneration with cerebellar ataxia 1 (SDCA1) (hereditary; OMIA-verified breed predisposition)

Breed: Russell Terrier (Dog) [163]

Russian Bolonka — isolated growth hormone deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Russian Bolonka (Dog) [198]

Saarloos Wolfhond — Dwarfism, pituitary, LHX3-related; pituitary dwarfism (hereditary; OMIA-verified breed predisposition)

Breed: Saarloos Wolfhond (Dog) [237]

Saarloos Wolfhond — Progressive retinal, central, and peripheral neurodegeneration (hereditary; OMIA-verified breed predisposition)

Disorder: Progressive retinal, central, and peripheral neurodegeneration [425]

Clin feat: Clinical signs involved early adult onset retinal degeneration and adult-onset neurological deficits including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner. (Christen et al., 2024) The first noticable clinical signs in the affected dogs involved a progressive loss of vision. Affected dogs developed prcd-PRA that let to blindness in older dogs. In six affected dogs of the study, the PRA diagnosis was made between 20 and 46 months of age (av 36 m, SD: 17 m) (Christen et al., 2024). Subsequent to the visual decline The eleven affected dogs additionally exhibited a range of neurological and neuromuscular signs, including gait abnormalities, hind limb weakness, tremors, ataxia, cognitive decline and behavioral changes such as aggression towards the owner.. Additionally, epileptic seizures were reported in cases 5, 6, 8, and 11. MRI was reportedly done at four years of age in cases 7, 9 and 10. The MRIs of cases 7 and 10 showed brain atrophy compatible with neurodegenerative disease. Notably, MRI findings in case 9 were normal even though it was performed after the onset of neurological signs. (Christen et al. 2024) [425]

Pathology: Histopathology of case 9, euthanized at 63 months of age, revealed severe bilateral retinal degeneration with loss of layering and atrophy. The outer and inner nuclear layers were thin and partially fused, and the outer plexiform layer and the rod/cone layer were barely visible. The inner plexiform layer was loose, and the number of ganglion cells was severely reduced. Additionally, there was bilateral cataract with presence of capsular epithelium (posterior migration of lens epithelium) and Morgagnian globules at the caudal poles. Brain and spinal cord showed scattered hypertrophy and hyperplasia of white matter astrocytes, which had a large amount of cytoplasm and large irregular to lobulated nuclei. These changes were most prominent in the spinal cord, brainstem, cerebellar medulla and in the corona radiata. Multiple small glial nodules were present in the white matter of the spinal cord and brainstem. The cerebellar foliae appeared slightly thin with widening of the sulci. Gliosis was observed in the molecular layer, and Purkinje cells appeared to be irregularly distributed. The neuropil of the caudate nucleus, and to a lesser extent the cortex, contained well-defined vacuoles of variable sizes that were associated with astrocytic hypertrophy. In addition to the astrocytic hypertrophy, axonal swelling/degeneration and dilation of myelin sheaths containing axonal fragments were observed in the spinal cord. The changes were most severe in the dorsal funiculi, and particularly in the cervical spinal cord. However, milder changes were also found in other funiculi. The cuneate and gracile nucleus in the brainstem contained multiple axonal spheroids. Myelin ballooning was observed multifocally in the dorsal root ganglia, with multiple axons being swollen, pale, and surrounded by a very thin myelin sheet. Multifocal mild meningothelial proliferation was additionally observed in the subarachnoid space of spinal cord and cerebellum. Skeletal muscles multifocally contained single myofibers or myofiber groups that were atrophic and triangular to flat in appearance, with multifocal internalization of nuclei. Multiple terminal nerve fibers showed increased interstitial fibrosis that separated the axons. (Christen et al., 2024) [425]

Prevalence: At the time of publication, the carrier frequency in the population was 19.1% in a cohort of 998 dogs (Christen et al., 2024). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298867 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene Evidence (references) - 2024. PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration. Mol Genet Metab — PubMed:PMID38277988 | DOI:10.1016/j.ymgme.2024.108149 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:602679 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:618770 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [425]

Saint Bernard — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Saint Bernard (Dog) [68]

Saluki — Neuronal ceroid lipofuscinosis, 8 (hereditary; OMIA-verified breed predisposition)

Breed: Saluki (Dog) [75]

Saluki — Succinic semialdehyde dehydrogenase deficiency (hereditary; OMIA-verified breed predisposition)

Clin feat: Vernau et al. (2020): Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388253333 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Vernau et al. (2020): "Whole-genome sequencing of three confirmed cases from three different litters revealed a homozygous missense variant within the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene (XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp)." Evidence (references) - 1987. Central nervous system status spongiosus of Saluki dogs. Proceedings of the 5th Annu Meet Vet med Forum, ACVIM. — OMIA Phene_Article / Article - 2020. A missense variant in ALDH5A1 associated with canine succinic semialdehyde dehydrogenase deficiency (SSADHD) in the Saluki dog. Genes (Basel) — PubMed:PMID32887425 | DOI:10.3390/genes11091033 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:271980 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:610045 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [426]

Samoyed — Alport syndrome, X-linked hereditary nephropathy, glomerulonephritis, X- linked nephritis (hereditary; OMIA-verified breed predisposition)

Breed: Samoyed (Dog) [230]

Samoyed — Oculoskeletal dysplasia 2 (hereditary; OMIA-verified breed predisposition)

Summary: Oculoskeletal dysplasia 2 (osd2, drd2) is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts. A genetic test is available. See also [OMIA:001522-9615]: Oculoskeletal dysplasia 1 [427]

Sapsari — Dew claws, canine preaxial polydactyly (hereditary; OMIA-verified breed predisposition)

Breed: Sapsari (Dog) [146]

Schapendoes — Generalized PRA (gPRA), early‑onset progressive retinal atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Schapendoes (Dog) [415]

Schipperke — Mucopolysaccharidosis IIIB (hereditary; OMIA-verified breed predisposition)

Breed: Schipperke (Dog) [428]

Clin feat: Affected dogs show clinical signs of cerebellar disease including ataxia and tremor with adult onset at approximately three years of age (Ellinwood et al., 2003). [428]

Pathology: Egeland et al. (2020) evaluated the naturally occurring canine model of MPS IIIB for the onset and progression of biochemical and neuropathological changes during the preclinical stages (onset approximately 24–30 months of age) of canine MPS IIIB disease. Even by 1 month of age, MPS IIIB dogs had elevated HS levels in brain and cerebrospinal fluid. Analysis of histopathology of several disease-relevant regions of the forebrain demonstrated progressive lysosomal storage and microglial activation despite a lack of cerebrocortical atrophy in the oldest animals studied. More pronounced histopathology changes were detected in the cerebellum, where progressive lysosomal storage, astrocytosis and microglial activation were observed. Microglial activation was particularly prominent in cerebellar white matter and within the deep cerebellar nuclei, where neuron loss also occurred. [428]

Prevalence: Raj et al. (2020) reported that Screening of Schipperkes from North America, Europe, Australasia, and Russia revealed carrier dogs in all these regions, indicating the worldwide distribution of the mutant allele. [428]

Control: Raj et al. (2020): From 2003–2019, 3219 Schipperkes were genotyped. Of these, 1.5% were homozygous for this insertion and found to be clinically affected, and 23.6% were heterozygous for the insertion and were clinically healthy, the remaining 74.9% were homozygous for the wild-type and were also clinically healthy. The number of dogs homozygous and heterozygous for the insertion declined rapidly after the initial years of genotyping, documenting the benefit of a DNA screening program in a breed with a small gene pool. [428]

Gen test: The results of 17 years of testing for this variant are reported under the Control heading above and presented in detail in Table 2 and Figure 3 of Raj et al. (2020). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26593249 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Raj et al. (2020) sequenced "All six exons and adjacent regions of the [comparative candidate] NAGLU gene . . . from six healthy appearing and three affected Schipperkes" and discovered a likely causal variant, namely "an insertion consisting of a 40–70 bp poly-A and an 11 bp duplication of the exonic region preceding the poly-A (XM_548088.6:c.2110_2111ins[A(40_70);2100_2110]) is predicted to inse… Evidence (references) - 2003. A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis — PubMed:PMID14518829 — OMIA Phene_Article / Article - 2003. Mucopolysaccharidosis type IIIB: Identification of the causative mutation in the canine model. American Society of Human Genetics Conference — OMIA Phene_Article / Article - 2011. Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther — PubMed:PMID21139569 | DOI:10.1038/mt.2010.265 — OMIA Phene_Article / Article - 2020. An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs. Sci Rep — PubMed:PMID32081995 | DOI:10.1038/s41598-020-60121-3 — OMIA Phene_Article / Article - 2020. Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet — PubMed:PMID32189222 | DOI:10.1007/s13353-020-00554-8 — OMIA Phene_Article / Article - 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article - 2020. Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions. Sci Rep — PubMed:PMID33230178 | DOI:10.1038/s41598-020-77032-y — OMIA Phene_Article / Article - 2022. Tralesinidase Alfa Enzyme Replacement Therapy Prevents Disease Manifestations in a Canine Model of Mucopolysaccharidosis Type IIIB. J Pharmacol Exp Ther — PubMed:PMID35717448 | DOI:10.1124/jpet.122.001119 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:252920 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609701 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [428]

Schnauzer — Congenital idiopathic megaesophagus (hereditary; OMIA-verified breed predisposition)

Breed: Schnauzer (Dog) [222]

Schnauzer — Schnauzer comedo syndrome (hereditary; OMIA-verified breed predisposition)

Disorder: Schnauzer comedo syndrome [429]

Summary: Numerous comedones form in the dorsal skin. Schnauzers are particularly predisposed to this disorder. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1996. The Mexican hairless dog as a model for assessing the comedolytic and morphogenic activity of retinoids. British Journal of Dermatology — PubMed:PMID8745888 — OMIA Phene_Article / Article - 1996. Spontaneous comedones on the skin of hairless descendants of mexican hairless dogs. Jikken Dobutsu. Experimental Animals — OMIA Phene_Article / Article - 1997. A refractory case of Schnauzer comedo syndrome. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1996. The Mexican hairless dog as a model for assessing the comedolytic and morphogenic activity of retinoids. British Journal of Dermatology — PubMed:PMID8745888 — OMIA Phene_Article / Article - 1996. Spontaneous comedones on the skin of hairless descendants of mexican hairless dogs. Jikken Dobutsu. Experimental Animals — OMIA Phene_Article / Article - 1997. A refractory case of Schnauzer comedo syndrome. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1996. The Mexican hairless dog as a model for assessing the comedolytic and morphogenic activity of retinoids. British Journal of Dermatology — PubMed:PMID8745888 — OMIA Phene_Article / Article - 1996. Spontaneous comedones on the skin of hairless descendants of mexican hairless dogs. Jikken Dobutsu. Experimental Animals — OMIA Phene_Article / Article - 1997. A refractory case of Schnauzer comedo syndrome. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1996. The Mexican hairless dog as a model for assessing the comedolytic and morphogenic activity of retinoids. British Journal of Dermatology — PubMed:PMID8745888 — OMIA Phene_Article / Article - 1996. Spontaneous comedones on the skin of hairless descendants of mexican hairless dogs. Jikken Dobutsu. Experimental Animals — OMIA Phene_Article / Article - 1997. A refractory case of Schnauzer comedo syndrome. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1996. The Mexican hairless dog as a model for assessing the comedolytic and morphogenic activity of retinoids. British Journal of Dermatology — PubMed:PMID8745888 — OMIA Phene_Article / Article - 1996. Spontaneous comedones on the skin of hairless descendants of mexican hairless dogs. Jikken Dobutsu. Experimental Animals — OMIA Phene_Article / Article - 1997. A refractory case of Schnauzer comedo syndrome. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:120450 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120450 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120450 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120450 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:120450 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [429]

Schnauzer, Standard — Cardiomyopathy, dilated, RBM20-related (hereditary; OMIA-verified breed predisposition)

Breed: Schnauzer, Standard (Dog) [310]

Schnauzer, Standard — Leukodystrophy, TSEN54-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Störk et al. (2019): Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventral strabismus consistent with a diffuse intracranial lesion. Magnetic resonance imaging revealed a diffuse white matter disease without mass effect. [430]

Pathology: Störk et al. (2019): Macroscopically, the cerebral white matter showed a gelatinous texture in the centrum semiovale. A mild hydrocephalus internus was noted. Histopathologically, a severe multifocal reduction of myelin formation and moderate diffuse edema without inflammation was detected leading to the diagnosis of leukodystrophy. In humans, TSEN54 variants cause a phenotype termed pontocerebellar hypoplasia, which is quite distinct from the phenotype seen in dogs. In dogs, the lesions predominantly concern the white matter of the cerebrum (Störk et al., 2019). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249930 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Comparison of private homozygous protein-changing variants in whole-genome sequence data from one affected dog with "control genome sequences from 8 wolves and 213 dogs" enabled Störk et al. (2019) to identify the likely causal variant as "a missense variant affecting exon 5 of the TSEN54 gene", namely "Chr9:5,015,506C>T (CanFam 3.1 assembly) . . . XM_540434.6:c.371G>A . . . XP_540434.3:p.(Gly124A… Evidence (references) - 2019. TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS Genet — PubMed:PMID31584937 | DOI:10.1371/journal.pgen.1008411 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610204 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:277470 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:225753 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608755 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [430]

Schnauzer-Beagle Cross — Fetal-onset neuroaxonal dystrophy (hereditary; OMIA-verified breed predisposition)

Breed: Schnauzer-Beagle Cross (Dog) [431]

Disorder: Fetal-onset neuroaxonal dystrophy [431]

Clin feat: Signs include fetal akinesia, scoliosis, arthrogryposis, cerebellar hypoplasia, pulmonary hypoplasia, respiratory failure, thinning of the patellar tendon, and spinal cord hypoplasia. The condition is lethal (Fyfe et al., 2010). [431]

Pathology: Mitofusin 2 is a multifunctional, membrane bound GTPase found in mitochondria and endoplasmic reticulum. It acts with mitofusin 1 to mediate fusion of the outer mitochondrial membrane. Alone, it mediates mitochondrial-ER contacts, autophagosome genesis, and mitochondrial transport in axons. Affected dogs have very low levels of MFN2 in the brainstem, cerebrum, kidneys, and cultured fibroblasts. The defects are tissue-specific (Fyfe et al., 2011). Histopathologic changes in affected dogs include swollen axons and spheroids in brainstem and spinal cord tracts, patchy loss of Purkinje cells, reduced cerebellar foliation, and multifocal thinning of the external granular cell layer. Loss of neurons in the deep cerebellar nuclei, spheroids and loss of myelinated axons in spinal roots and peripheral nerves, increased apoptosis of skeletal muscle myocytes, and fibro-fatty connective tissue proliferation around joints can also be seen (Fyfe et al., 2010). [431]

Prevalence: The condition has only been observed in a colony of laboratory dogs following the mating of a purebred Giant Schnauzer with a Beagle (Fyfe et al., 2010). [431]

Control: Breeding of known carriers is not recommended. Siblings of affected dogs and dogs that have produced affected puppies should be tested for the causative mutation. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 3485115 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: The likely causal variant is a 3 bp deletion in exon 14 of MFN2, the gene that codes for mitofusin 2. This c.1617_1619delGGA deletion is predicted to lead to the loss of a glutamate residue on the protein level, p.Q539del (Fyfe et al., 2011). Evidence (references) - 2010. Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. J Comp Neurol — PubMed:PMID20653033 | DOI:10.1002/cne.22423 — OMIA Phene_Article / Article - 2011. A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics — PubMed:PMID21643798 | DOI:10.1007/s10048-011-0285-6 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601152 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:617087 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609260 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608507 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [431]

Scottish Deerhound — Also known as pseudoachondroplastic dysplasia (hereditary; OMIA-verified breed predisposition)

Breed: Scottish Deerhound (Dog) [432]

Disorder: Also known as pseudoachondroplastic dysplasia [432]

Mode of inheritance: Stevens (1999) provided evidence for autosomal recessive inheritance in Scottish deerhounds. [432]

Summary: For information on osteochondrodysplasia / pseudoachondroplastic dysplasia due to SLC13A1 variants (in Miniature Poodles) see OMIA 001400-9615: Chondrodysplasia, SLC13A1-related in Canis lupus familiaris Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features.. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article - 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs.. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article - 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds.. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article - 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article - 1959. Familial canine chondrodysplasia faetalis (achondroplasia).. J Pathol Bacterio — OMIA Phene_Article / Article - 1966. Two cases of epiphyseal dysplasia.. Veterinary Record — OMIA Phene_Article / Article - 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article - 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — OMIA Phene_Article / Article - 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article - 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article - 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article - 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article - 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article - 1966. Two cases of epiphyseal dysplasia. Veterinary Record — OMIA Phene_Article / Article - 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article - 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — OMIA Phene_Article / Article - 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article - 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article - 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article - 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article - 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article - 1966. Two cases of epiphyseal dysplasia. Veterinary Record — OMIA Phene_Article / Article - 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article - 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — OMIA Phene_Article / Article - 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article - 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article - 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article - 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article - 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article - 1966. Two cases of epiphyseal dysplasia. Veterinary Record — OMIA Phene_Article / Article - 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article - 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — OMIA Phene_Article / Article - 1980. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc — PubMed:PMID6987200 — OMIA Phene_Article / Article - 1992. Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am — PubMed:PMID1583046 — OMIA Phene_Article / Article - 1989. Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc — PubMed:PMID2777707 — OMIA Phene_Article / Article - 1999. Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J — PubMed:PMID10847517 — OMIA Phene_Article / Article - 1959. Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio — OMIA Phene_Article / Article - 1966. Two cases of epiphyseal dysplasia. Veterinary Record — OMIA Phene_Article / Article - 1977. What's your diagnosis?. Journal of American Veterinary Medical Association — OMIA Phene_Article / Article - 2012. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat — PubMed:PMID21922596 | DOI:10.1002/humu.21611 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600972 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:256050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:226900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222600 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [432]

Scottish Terrier — Dalmatian leukodystrophy; miniature poodle demyelination (hereditary; OMIA-verified breed predisposition)

Breed: Scottish Terrier (Dog) [249]

Sealyham Terrier — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Sealyham Terrier (Dog) [61]

Shetland Sheepdog — Bardet-Biedl syndrome 2 (hereditary; OMIA-verified breed predisposition)

Breed: Shetland Sheepdog (Dog) [433]

Summary: Hitti-Malin et al. (2021) elucidate the causal variant for a distinct form of [progressive retinal atrophy] PRA in the Shetland sheepdog, using a whole-genome sequencing approach. [433]

Clin feat: Hitti-Malin et al. (2021): In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246182 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Hitti-Malin et al. (2021): "Filtering variants from a single PRA-affected Shetland sheepdog genome compared to 176 genomes of other breeds identified a single nucleotide variant in exon 11 of the Bardet-Biedl syndrome-2 gene (BBS2) (c.1222G>C; p.Ala408Pro). Genotyping 1386 canids of 155 dog breeds, 15 cross breeds and 8 wolves indicated the c.1222G>C variant was only segregated within Shetla… Evidence (references) - 2021. A missense variant in the Bardet-Biedl syndrome 2 gene (BBS2) leads to a novel syndromic retinal degeneration in the Shetland Sheepdog. Genes (Basel) — PubMed:PMID34828377 | DOI:10.3390/genes12111771 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615981 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:606151 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [433]

Shetland Sheepdog — Maxillary canine-tooth mesioversion (hereditary; OMIA-verified breed predisposition)

Clin feat: Abrams et al. 92020): maxillary canine-tooth mesioversion (MCM) describes an upper canine tooth that is displaced forward toward the nose, also known as a lance canine.... One or both maxillary canines may be affected. MCM can cause traumatic occlusion, ulceration of the upper lip, and/or periodontal disease and may require extraction or orthodontic repositioning. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2020. Variants in FtsJ RNA 2'-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs.. Proc Natl Acad Sci U S A — PubMed:PMID32958658 | DOI:10.1073/pnas.2009500117 — OMIA Phene_Article / Article - 2008. Correction of maxillary canine tooth mesioversion in dogs.. J Vet Dent — PubMed:PMID19025142 | DOI:10.1177/089875640802500312 — OMIA Phene_Article / Article - 2020. Variants in FtsJ RNA 2'-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs. Proc Natl Acad Sci U S A — PubMed:PMID32958658 | DOI:10.1073/pnas.2009500117 — OMIA Phene_Article / Article - 2008. Correction of maxillary canine tooth mesioversion in dogs. J Vet Dent — PubMed:PMID19025142 | DOI:10.1177/089875640802500312 — OMIA Phene_Article / Article - 2020. Variants in FtsJ RNA 2'-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs. Proc Natl Acad Sci U S A — PubMed:PMID32958658 | DOI:10.1073/pnas.2009500117 — OMIA Phene_Article / Article - 2008. Correction of maxillary canine tooth mesioversion in dogs. J Vet Dent — PubMed:PMID19025142 | DOI:10.1177/089875640802500312 — OMIA Phene_Article / Article - 2020. Variants in FtsJ RNA 2'-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs. Proc Natl Acad Sci U S A — PubMed:PMID32958658 | DOI:10.1073/pnas.2009500117 — OMIA Phene_Article / Article - 2008. Correction of maxillary canine tooth mesioversion in dogs. J Vet Dent — PubMed:PMID19025142 | DOI:10.1177/089875640802500312 — OMIA Phene_Article / Article - 2020. Variants in FtsJ RNA 2'-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs. Proc Natl Acad Sci U S A — PubMed:PMID32958658 | DOI:10.1073/pnas.2009500117 — OMIA Phene_Article / Article - 2008. Correction of maxillary canine tooth mesioversion in dogs. J Vet Dent — PubMed:PMID19025142 | DOI:10.1177/089875640802500312 — OMIA Phene_Article / Article [434]

Shetland Sheepdog — paroxysmal exercise-induced dyskinesia (hereditary; OMIA-verified breed predisposition)

Disorder: paroxysmal exercise-induced dyskinesia [435]

Clin feat: Nessler et al. (2020): Four female Shetland Sheepdogs (age 2–6 years) were presented due to progressive dyskinetic episodes.. The episodes were characterized by generalized ataxia with hypermetria and muscular hypertonia of all limbs, dystonia, normal to mildly reduced mentation, and a mild tremor. In the more severe episodes, the dogs were no longer ambulatory.. The episodes varied from minutes to hours and could start while at rest, or during activity. In case 4, they were triggered by excitement or stress.. In cases 1–3, hot weather seemed to aggravate the clinical signs.. Laboratory diagnostic findings included mild lactic acidosis and lactaturia, mild intermittent serum creatine kinase (CK) elevation and hypoglycemia. Electrophysiological tests and magnetic resonance imaging of the brain were unremarkable. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398298918 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Nessler et al. (2020) investigated four "female Shetland Sheepdogs with hypertonic paroxysmal dyskinesia, mainly triggered by exercise and stress ... . The genomes of two cases were sequenced and compared to 654 control genomes. The analysis revealed a case-specific missense variant, c.1658G>A or p.Arg553Gln, in the PCK2 gene encoding the mitochondrial phosphoenolpyruvate carboxyk… Evidence (references) - 2024. Canine paroxysmal dyskinesia-a review. Front Vet Sci — PubMed:PMID39119350 | DOI:10.3389/fvets.2024.1441332 — OMIA Phene_Article / Article - 2020. Mitochondrial PCK2 missense variant in Shetland Sheepdogs with paroxysmal exercise-induced dyskinesia (PED). Genes (Basel) — PubMed:PMID32660061 | DOI:10.3390/genes11070774 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:614095 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [435]

Shiba Inu — Gangliosidosis, GM1 (hereditary; OMIA-verified breed predisposition)

Breed: Shiba Inu (Dog) [70]

Shih Tzu — Also described as epidermal acantholysis (hereditary; OMIA-verified breed predisposition)

Breed: Shih Tzu (Dog) [273]

Shiloh Shepherd — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Shiloh Shepherd (Dog) [68]

Siberian Husky — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Siberian Husky (Dog) [68]

Siberian Husky — Cryptorchidism (hereditary; OMIA-verified breed predisposition)

Summary: Cryptorchidism is characterized by the presence of one or two undescended testes in an otherwise phenotypically normal male (isolated cryptorchidism). Canine cryptorchidism is common in the dog population as a whole, with high prevalence in some breeds. Undescended testes have an increased risk of developing neoplasia. Breeding of affected dogs is discouraged. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT, modified by Imke Tammen [28/09/2023] [436]

Clin feat: Undescended testes may be located anywhere from the caudal pole of the kidney to the inguinal canal, or outside of the canal but cranial to the scrotum (Meyers-Wallen, 2011). Canine testes normally pass through the inguinal canal within 10 days after birth (Gier and Marion, 1969), but scrotal testes are not easily palpable in neonates. Dogs can be considered cryptorchid if one or both testes are not palpable in the scrotum by 6 to 8 weeks of age (Meyers-Wallen, 2011). Later testis descent can occur, and is more common with unilaterally cryptorchid dogs (Dunn et al., 1968). [436]

Pathology: There is an increased risk of neoplasia (Sertoli cell tumor, seminoma) in undescended testes. Unilateral cryptorchid dogs may have reduced fertility and bilateral cryptorchid dogs are sterile, as spermatogonia are depleted in undescended testes. Cryptorchid testes can occur in association with other DSD, such as Persistent Mullerian duct syndrome, AMHR2-related in Miniature Schnauzers ([OMIA:002775-9615]) and XX difference of sexual development ([OMIA:000901-9615]) in several breeds. As testes descend, they transit through the abdomen and inguinal canal to the scrotum. Testosterone and INSL3 (insulin like factor 3), both secreted by Leydig cells, induce the growth and differentiation in the gubernaculum, which is needed for normal testicular descent. Mutations in INSL3 or its receptor (LGR8/GREAT) cause cryptorchidism in humans, but no analogous mutations have been discovered in dogs. Human males with heterozygous INSL3 mutations are unilaterally cryptorchid at birth, but the testis descends later, usually at puberty (Tomboc et al., 2000, Ferlin et al., 2003). Other candidate genes for cryptorchidism in humans are the androgen receptor (AR) and estrogen receptor (ER, Pathirana, 2010). [436]

Prevalence: Canine isolated cryptorchidism is common, with different studies reporting prevalence from 6.8% of males presented for neutering to 1.4% of dogs at 6-12 months of age (Hayes et al., 1985, Yates et al., 2003). Prevalence is higher in Siberian Husky dogs, and in smaller breeds compared to larger breeds (Zhao et al., 2010, Pathirana et al., 2010). [436]

Control: Breeding of fertile cryptorchid animals (as well as their parents or siblings) is discouraged. The AVMA states that it is unethical for a veterinarian to surgically correct cryptorchidism without also sterilizing the animal. [436]

Gen test: There are no reliable genetic tests available at this time. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1953. Cryptorchidism in Cocker Spaniels.. Journal of Heredity — OMIA Phene_Article / Article - 1938. Die verebung des Kryptorchismus beim Hund. Kleinter u Pesztier — OMIA Phene_Article / Article - 1969. The relationship between cryptorchidism and canine testicular neoplasia. Journal of the American Veterinary Medical Association — PubMed:PMID4391618 — OMIA Phene_Article / Article - 1970. Torsion of the retained testicle in the dog. Journal of Small Animal Practice — PubMed:PMID4393846 — OMIA Phene_Article / Article - 1969. Bilateral sertoli cell tumor in a canine cryptorchid with accompanying pathological lesions. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1960. Inheritance of cryptorchidism. Journal of Animal Health Trust — OMIA Phene_Article / Article - 1955. Cryptorchidism in the dog. Veterinary Record — OMIA Phene_Article / Article - 1989. Cryptorchidism in Dogs. Tijdschrift Voor Diergeneeskunde — PubMed:PMID2572074 — OMIA Phene_Article / Article - 1991. Canine cryptorchidism.. Vet Clin North Am Small Anim Pract — PubMed:PMID1677504 | DOI:10.1016/s0195-5616(91)50059-0 — OMIA Phene_Article / Article - 1993. Congenital Abnormalities in Immature Dogs from a Pet Store - 253 Cases (1987-1988). Journal of the American Veterinary Medical Association — PubMed:PMID8095494 — OMIA Phene_Article / Article - 1993. Pituitary Response of Cryptorchid Dogs to LH-RH-Analogue Before and After Sexual Maturation. Journal of Veterinary Medical Science — PubMed:PMID8096403 — OMIA Phene_Article / Article - 1993. Hematuria, Hyperestrogenemia, and Hyperprogesteronemia Due to a Sertoli-Cell Tumor in a Bilaterally Cryptorchid Dog. Canine Practice — OMIA Phene_Article / Article - (42 additional references in OMIA) - 1953. Cryptorchidism in Cocker Spaniels. Journal of Heredity — OMIA Phene_Article / Article - 1938. Die verebung des Kryptorchismus beim Hund. Kleinter u Pesztier — OMIA Phene_Article / Article - 1969. The relationship between cryptorchidism and canine testicular neoplasia. Journal of the American Veterinary Medical Association — PubMed:PMID4391618 — OMIA Phene_Article / Article - 1970. Torsion of the retained testicle in the dog. Journal of Small Animal Practice — PubMed:PMID4393846 — OMIA Phene_Article / Article - 1969. Bilateral sertoli cell tumor in a canine cryptorchid with accompanying pathological lesions. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1960. Inheritance of cryptorchidism. Journal of Animal Health Trust — OMIA Phene_Article / Article - 1955. Cryptorchidism in the dog. Veterinary Record — OMIA Phene_Article / Article - 1989. Cryptorchidism in Dogs. Tijdschrift Voor Diergeneeskunde — PubMed:PMID2572074 — OMIA Phene_Article / Article - 1991. Canine cryptorchidism. Vet Clin North Am Small Anim Pract — PubMed:PMID1677504 | DOI:10.1016/s0195-5616(91)50059-0 — OMIA Phene_Article / Article - 1993. Congenital Abnormalities in Immature Dogs from a Pet Store - 253 Cases (1987-1988). Journal of the American Veterinary Medical Association — PubMed:PMID8095494 — OMIA Phene_Article / Article - 1993. Pituitary Response of Cryptorchid Dogs to LH-RH-Analogue Before and After Sexual Maturation. Journal of Veterinary Medical Science — PubMed:PMID8096403 — OMIA Phene_Article / Article - 1993. Hematuria, Hyperestrogenemia, and Hyperprogesteronemia Due to a Sertoli-Cell Tumor in a Bilaterally Cryptorchid Dog. Canine Practice — OMIA Phene_Article / Article - (42 additional references in OMIA) - 1953. Cryptorchidism in Cocker Spaniels. Journal of Heredity — OMIA Phene_Article / Article - 1938. Die verebung des Kryptorchismus beim Hund. Kleinter u Pesztier — OMIA Phene_Article / Article - 1969. The relationship between cryptorchidism and canine testicular neoplasia. Journal of the American Veterinary Medical Association — PubMed:PMID4391618 — OMIA Phene_Article / Article - 1970. Torsion of the retained testicle in the dog. Journal of Small Animal Practice — PubMed:PMID4393846 — OMIA Phene_Article / Article - 1969. Bilateral sertoli cell tumor in a canine cryptorchid with accompanying pathological lesions. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1960. Inheritance of cryptorchidism. Journal of Animal Health Trust — OMIA Phene_Article / Article - 1955. Cryptorchidism in the dog. Veterinary Record — OMIA Phene_Article / Article - 1989. Cryptorchidism in Dogs. Tijdschrift Voor Diergeneeskunde — PubMed:PMID2572074 — OMIA Phene_Article / Article - 1991. Canine cryptorchidism. Vet Clin North Am Small Anim Pract — PubMed:PMID1677504 | DOI:10.1016/s0195-5616(91)50059-0 — OMIA Phene_Article / Article - 1993. Congenital Abnormalities in Immature Dogs from a Pet Store - 253 Cases (1987-1988). Journal of the American Veterinary Medical Association — PubMed:PMID8095494 — OMIA Phene_Article / Article - 1993. Pituitary Response of Cryptorchid Dogs to LH-RH-Analogue Before and After Sexual Maturation. Journal of Veterinary Medical Science — PubMed:PMID8096403 — OMIA Phene_Article / Article - 1993. Hematuria, Hyperestrogenemia, and Hyperprogesteronemia Due to a Sertoli-Cell Tumor in a Bilaterally Cryptorchid Dog. Canine Practice — OMIA Phene_Article / Article - (42 additional references in OMIA) - 1953. Cryptorchidism in Cocker Spaniels. Journal of Heredity — OMIA Phene_Article / Article - 1938. Die verebung des Kryptorchismus beim Hund. Kleinter u Pesztier — OMIA Phene_Article / Article - 1969. The relationship between cryptorchidism and canine testicular neoplasia. Journal of the American Veterinary Medical Association — PubMed:PMID4391618 — OMIA Phene_Article / Article - 1970. Torsion of the retained testicle in the dog. Journal of Small Animal Practice — PubMed:PMID4393846 — OMIA Phene_Article / Article - 1969. Bilateral sertoli cell tumor in a canine cryptorchid with accompanying pathological lesions. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1960. Inheritance of cryptorchidism. Journal of Animal Health Trust — OMIA Phene_Article / Article - 1955. Cryptorchidism in the dog. Veterinary Record — OMIA Phene_Article / Article - 1989. Cryptorchidism in Dogs. Tijdschrift Voor Diergeneeskunde — PubMed:PMID2572074 — OMIA Phene_Article / Article - 1991. Canine cryptorchidism. Vet Clin North Am Small Anim Pract — PubMed:PMID1677504 | DOI:10.1016/s0195-5616(91)50059-0 — OMIA Phene_Article / Article - 1993. Congenital Abnormalities in Immature Dogs from a Pet Store - 253 Cases (1987-1988). Journal of the American Veterinary Medical Association — PubMed:PMID8095494 — OMIA Phene_Article / Article - 1993. Pituitary Response of Cryptorchid Dogs to LH-RH-Analogue Before and After Sexual Maturation. Journal of Veterinary Medical Science — PubMed:PMID8096403 — OMIA Phene_Article / Article - 1993. Hematuria, Hyperestrogenemia, and Hyperprogesteronemia Due to a Sertoli-Cell Tumor in a Bilaterally Cryptorchid Dog. Canine Practice — OMIA Phene_Article / Article - (42 additional references in OMIA) - 1953. Cryptorchidism in Cocker Spaniels. Journal of Heredity — OMIA Phene_Article / Article - 1938. Die verebung des Kryptorchismus beim Hund. Kleinter u Pesztier — OMIA Phene_Article / Article - 1969. The relationship between cryptorchidism and canine testicular neoplasia. Journal of the American Veterinary Medical Association — PubMed:PMID4391618 — OMIA Phene_Article / Article - 1970. Torsion of the retained testicle in the dog. Journal of Small Animal Practice — PubMed:PMID4393846 — OMIA Phene_Article / Article - 1969. Bilateral sertoli cell tumor in a canine cryptorchid with accompanying pathological lesions. Canadian Veterinary Journal — OMIA Phene_Article / Article - 1960. Inheritance of cryptorchidism. Journal of Animal Health Trust — OMIA Phene_Article / Article - 1955. Cryptorchidism in the dog. Veterinary Record — OMIA Phene_Article / Article - 1989. Cryptorchidism in Dogs. Tijdschrift Voor Diergeneeskunde — PubMed:PMID2572074 — OMIA Phene_Article / Article - 1991. Canine cryptorchidism. Vet Clin North Am Small Anim Pract — PubMed:PMID1677504 | DOI:10.1016/s0195-5616(91)50059-0 — OMIA Phene_Article / Article - 1993. Congenital Abnormalities in Immature Dogs from a Pet Store - 253 Cases (1987-1988). Journal of the American Veterinary Medical Association — PubMed:PMID8095494 — OMIA Phene_Article / Article - 1993. Pituitary Response of Cryptorchid Dogs to LH-RH-Analogue Before and After Sexual Maturation. Journal of Veterinary Medical Science — PubMed:PMID8096403 — OMIA Phene_Article / Article - 1993. Hematuria, Hyperestrogenemia, and Hyperprogesteronemia Due to a Sertoli-Cell Tumor in a Bilaterally Cryptorchid Dog. Canine Practice — OMIA Phene_Article / Article - (42 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:219050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:219050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:219050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:219050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:219050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [436]

Siberian Husky — Hyperphosphatasaemia (hereditary; OMIA-verified breed predisposition)

Summary: Lawler et al. (1996) reported the familial occurrence of elevated serum alkaline phosphatase (SAP) in Siberian Huskies. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1996. Benign familial hyperphosphatasemia in Siberian Huskies. American Journal of Veterinary Research — PubMed:PMID8723869 — OMIA Phene_Article / Article - 1996. Benign familial hyperphosphatasemia in Siberian Huskies. American Journal of Veterinary Research — PubMed:PMID8723869 — OMIA Phene_Article / Article - 1996. Benign familial hyperphosphatasemia in Siberian Huskies. American Journal of Veterinary Research — PubMed:PMID8723869 — OMIA Phene_Article / Article - 1996. Benign familial hyperphosphatasemia in Siberian Huskies. American Journal of Veterinary Research — PubMed:PMID8723869 — OMIA Phene_Article / Article - 1996. Benign familial hyperphosphatasemia in Siberian Huskies. American Journal of Veterinary Research — PubMed:PMID8723869 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:171720 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:171720 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:171720 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:171720 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:171720 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:239100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [437]

Silken Windhound — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Silken Windhound (Dog) [69]

Silky Terrier — Progressive rod-cone degeneration, PRCD-related (hereditary; OMIA-verified breed predisposition)

Breed: Silky Terrier (Dog) [86]

Skye Terrier — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)

Breed: Skye Terrier (Dog) [137]

Sloughi — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Sloughi (Dog) [94]

Small Swiss Hound — Neuronal ceroid lipofuscinosis, 7 (hereditary; OMIA-verified breed predisposition)

Breed: Small Swiss Hound (Dog) [135]

Smithfield — Collie eye anomaly; Collie eye defect, choroidal hypoplasia, Collie ectasia syndrome, scleral ectasia syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Smithfield (Dog) [69]

Smooth Fox Terrier — Jack Russel terrier type congenital myasthenic syndrome; post-synaptic congenital myasthenic syndrome; myasthenia gravis-like disease (hereditary; OMIA-verified breed predisposition)

Breed: Smooth Fox Terrier (Dog) [279]

Soft Coated Wheaten Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Soft Coated Wheaten Terrier (Dog) [68]

Spanish Greyhound — Hyperekplexia (Startle disease), SLC6A5-related (hereditary; OMIA-verified breed predisposition)

Breed: Spanish Greyhound (Dog) [339]

Spanish Water Dog — Congenital hypothyroidism with goiter (hereditary; OMIA-verified breed predisposition)

Breed: Spanish Water Dog (Dog) [289]

Spanish Water Dog — Neuroaxonal dystrophy, TECPR2-related (hereditary; OMIA-verified breed predisposition)

Clin feat: As reported by Hahn et al. (2015): Affected dogs presented with various neurological deficits including gait abnormalities and behavioral deficits. Histopathology demonstrated spheroid formation accentuated in the grey matter of the cerebral hemispheres, the cerebellum, the brain stem and in the sensory pathways of the spinal cord. Iron accumulation was absent. Ultrastructurally spheroids contained predominantly closely packed vesicles with a double-layered membrane, which were characterized as autophagosomes using immunohistochemistry. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388255150 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Hanh et al. (2015) reported a likely causal allele as being "a perfectly associated, single, non-synonymous coding variant in the canine tectonin beta-propeller repeat-containing protein 2 (TECPR2) gene affecting a highly conserved region was detected (c.4009C>T or p.R1337W)". Evidence (references) - 2015. TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One — PubMed:PMID26555167 | DOI:10.1371/journal.pone.0141824 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:615031 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615000 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [438]

Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Winkler et al. (2020): Fundus images from an affected ~4.5-year-old dog (SWD IIE) showed advanced retinal degeneration typical of PRA, including vascular attenuation and tapetal hyperreflectivity Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: PDBS (Entrez Gene ID 399653) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Winkler et al. (2020): "A 6-bp deletion was identified in exon 19 of PDE6B removing two highly conserved amino acids from the enzymatic domain of the PDE6B protein (c.22182223del; p.Phe740_Phe741del). This segregated with the disease status in the small study pedigree." Evidence (references) - 2020. A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy. Vet Ophthalmol — PubMed:PMID32639685 | DOI:10.1111/vop.12792 — OMIA Phene_Article / Article - 2022. Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT). Exp Eye Res — PubMed:PMID35588783 | DOI:10.1016/j.exer.2022.109106 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Cone-driven, geniculo-cortical responses in canine models of outer retinal disease. bioRxiv — PubMed:PMID38168165 | DOI:10.1101/2023.12.13.571523 — OMIA Phene_Article / Article - 2024. Cone-driven, geniculocortical responses in canine models of outer retinal disease. Transl Vis Sci Technol — PubMed:PMID38241039 | DOI:10.1167/tvst.13.1.18 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article - 2025. Novel photoreceptor-specific promoters for gene therapy in mid-to-late stage retinal degeneration. Mol Ther — PubMed:PMID40405464 | DOI:10.1016/j.ymthe.2025.05.020 — OMIA Phene_Article / Article - 2025. Gene therapy advances using canine and feline animal models of inherited retinal degeneration. Eye (Lond) — PubMed:PMID40461693 | DOI:10.1038/s41433-025-03825-y — OMIA Phene_Article / Article - 2026. Crosstalk between r-loops, RNA/DNA modifications, and cell death dynamics in canine models of retinitis pigmentosa. Invest Ophthalmol Vis Sci — PubMed:PMID41649227 | DOI:10.1167/iovs.67.2.20 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:163500 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613801 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:180072 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [439]

Springer Spaniel — Congenital idiopathic megaesophagus (hereditary; OMIA-verified breed predisposition)

Breed: Springer Spaniel (Dog) [222]

Staffordshire Bull Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Staffordshire Bull Terrier (Dog) [68]

Staffordshire Bull Terrier — L-2-hydroxyglutaric aciduria (hereditary; OMIA-verified breed predisposition)

Disorder: L-2-hydroxyglutaric aciduria [440]

Summary: The first cases of this inborn error of metabolism in animals were reported by Abramson et al. (2001, 2003) [FN: 7 Oct 2003] Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26585840 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Using a candidate gene strategy (based on the homologous disorder in humans), Penderis et al. (2007) sequenced "all 10 canine L2HGDH exons (with flanking intron regions) from the [Staffordshire bull terrier] affected dogs and two carrier dogs" and identified a causal mutation as "two single‐nucleotide substitutions separated by a single invariant T nucleotide in exon 10 (c[1297T→C; 1299c→t]; p[Leu… Evidence (references) - 2001. Metabolic defect in Staffordshire bull terriers. Veterinary Record — PubMed:PMID11708646 — OMIA Phene_Article / Article - 2003. L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. Journal of Veterinary Internal Medicine — PubMed:PMID12892307 — OMIA Phene_Article / Article - 2003. L-2-hydroxyglutaric aciduria in Staffordshire bull terriers. Veterinary Record — PubMed:PMID12892272 — OMIA Phene_Article / Article - 2005. L-2-hydroxyglutaric aciduria in a West Highland white terrier. Vet Rec — PubMed:PMID15715007 — OMIA Phene_Article / Article - 2007. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet — PubMed:PMID17475916 | DOI:10.1136/jmg.2006.042507 — OMIA Phene_Article / Article - 2008. Neuropathological findings in a Staffordshire bull terrier with l-2-hydroxyglutaric aciduria. J Comp Pathol — PubMed:PMID18295785 | DOI:10.1016/j.jcpa.2007.11.005 — OMIA Phene_Article / Article - 2010. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Vet Rec — PubMed:PMID20852250 | DOI:10.1136/vr.c4476 — OMIA Phene_Article / Article - 2012. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. J Am Anim Hosp Assoc — PubMed:PMID22843824 | DOI:10.5326/JAAHA-MS-5967 — OMIA Phene_Article / Article - 2012. A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. BMC Vet Res — PubMed:PMID22834903 | DOI:10.1186/1746-6148-8-124 — OMIA Phene_Article / Article - 2014. L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. J S Afr Vet Assoc — PubMed:PMID24830757 | DOI:10.4102/jsava.v85i1.1042 — OMIA Phene_Article / Article - 2016. Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. Vet Rec — PubMed:PMID27729589 | DOI:10.1136/vr.103783 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:236792 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:609584 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [440]

Sussex Spaniel — Pyruvate dehydrogenase deficiency (hereditary; OMIA-verified breed predisposition)

Breed: Sussex Spaniel (Dog) [229]

Swedish Lapphund — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)

Breed: Swedish Lapphund (Dog) [285]

Swedish Vallhund — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)

Breed: Swedish Vallhund (Dog) [137]

Swedish Vallhund — Retinopathy (hereditary; OMIA-verified breed predisposition)

Disorder: Retinopathy [441]

Clin feat: As summarised by Cooper et al. (2014), By examining 324 dogs of the Swedish vallhund breed in seven countries and across three continents, we were able to describe a new and unique form of PRA characterized by the multifocal appearance of red and brown discoloration of the tapetal fundus followed over time by thinning of the retina. We propose three stages of the disease based on the appearance of the ocular fundus and associated visual deficits. Electroretinography revealed a gradual loss of both rod and cone photoreceptor-mediated function in Stages 2 and 3 of the disease. In the few dogs that suffered from pronounced vision loss, night-blindness occurred first in late Stage 2, followed by decreased day-vision in Stage 3. Histologic examinations confirmed the loss of photoreceptor cells at Stage 3, which was associated with the accumulation of autofluorescent material in the adjacent retinal pigment epithelium. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249751 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Ahonen et al. (2015) were able to show that this disorder "is associated with overexpression of MERTK" but were not able to report a causal mutation. Everson et al. (2017) reported a likely causal variant as "a 6–8 kb insertion in intron 1 of MERTK" with the insertion "comprising a full-length intact LINE-1 retroelement". Evidence (references) - 2014. A novel form of progressive retinal atrophy in Swedish vallhund dogs. PLoS One — PubMed:PMID25198798 | DOI:10.1371/journal.pone.0106610 — OMIA Phene_Article / Article - 2013. Ocular disorders presumed to be inherited in purebred dogs. 6th ed. American College of Veterinary Ophthalmologists, Meridian ID — OMIA Phene_Article / Article - 2014. Increased expression of MERTK is associated with a unique form of canine retinopathy. PLoS One — PubMed:PMID25517981 | DOI:10.1371/journal.pone.0114552 — OMIA Phene_Article / Article - 2017. An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PLoS One — PubMed:PMID28813472 | DOI:10.1371/journal.pone.0183021 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:604705 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613862 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [441]

Swedish White Elkhound — Progressive rod-cone degeneration, PRCD-related (hereditary; OMIA-verified breed predisposition)

Breed: Swedish White Elkhound (Dog) [86]

Tamaskan Dog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Tamaskan Dog (Dog) [68]

Tenterfield Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Tenterfield Terrier (Dog) [68]

Thai Ridgeback — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Thai Ridgeback (Dog) [94]

Tibetan Mastiff — Colour mutant alopecia; Color dilution alopecia; Colour dilution alopecia; Black Hair Follicular Dysplasia; Blue Doberman Syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Tibetan Mastiff (Dog) [94]

Tibetan Spaniel — Chondrodysplasia, FGF4 retrogene-related (hereditary; OMIA-verified breed predisposition)

Breed: Tibetan Spaniel (Dog) [137]

Tibetan Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Tibetan Terrier (Dog) [68]

Tosa — Dew claws, canine preaxial polydactyly (hereditary; OMIA-verified breed predisposition)

Breed: Tosa (Dog) [146]

Toy American Eskimo Dog — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)

Breed: Toy American Eskimo Dog (Dog) [132]

Toy Fox Terrier — Congenital hypothyroidism with goiter (hereditary; OMIA-verified breed predisposition)

Breed: Toy Fox Terrier (Dog) [289]

Treeing Walker Coonhound — Hypocatalasia (hereditary; OMIA-verified breed predisposition)

Breed: Treeing Walker Coonhound (Dog) [89]

Vizsla — Cerebellar cortical degeneration, SNX14-related (hereditary; OMIA-verified breed predisposition)

Breed: Vizsla (Dog) [442]

Clin feat: Fenn et al. (2016) report two affected littermates with a history of progressive ataxia, starting around three months of age. Clinical signs included marked hypermetric and dysmetric ataxia, truncal sway, intention tremors and absent menace responses, with positional horizontal nystagmus in one dog. Routine diagnostic investigations were unremarkable, and magnetic resonance imaging performed in one dog revealed mild craniodorsal cerebellar sulci widening, supportive of cerebellar atrophy. [442]

Pathology: Fenn et al. (2016): Owners of both dogs elected for euthanasia shortly after the onset of signs. Histopathological examination revealed primary Purkinje neuron loss consistent with CCD [cerebellar cortical degeneration]. [442]

Prevalence: Fenn et al. (2016): Genetic screening of 133 unaffected Hungarian Vizslas revealed the presence of three heterozygotes, supporting the presence of carriers in the wider population Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388243793 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Fenn et al. (2016): "an exon 26 splice donor variant (CanFam3.1, chr12:45,530,566, c.2653 + 1G > A) in the Sorting Nexin 14 (SNX14) gene" Evidence (references) - 2016. Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet — PubMed:PMID27566131 | DOI:10.1186/s12863-016-0433-y — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:616354 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616105 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [442]

Vizsla — Skeletal dysplasia 3; disproportionate dwarfism (hereditary; OMIA-verified breed predisposition)

Disorder: Skeletal dysplasia 3; disproportionate dwarfism [443]

Summary: Skeletal dysplasia 3 (SD3) is a moderately severe form of disproportionate dwarfism in Vizslas. Affected dogs have short legs and their shoulder height is reduced by ~11 cm compared to non-affected dogs. Skeletal dysplasia represents a highly heterogenoues group of diseases with more than 400 distinct entitities described in humans. [443]

Clin feat: Ludwig-Peisker et al. (2022) measured shoulder heights in 29 adult Vizslas that had been genotyped for the PCYT1A:p.Y225H variant. The shoulder height in 7 homozygous mutant dogs was highly variable. On average, homozygous mutant dogs were ~11 cm shorter than dogs with at least one wildtype PCY1A allele. Ludwig-Peisker et al. (2022) found no size differences between homozygous wildtype and heterozygous dogs. Radiographs of affected dogs showed shortened and thickened radius and ulna with procurvatum and varus deformity. The humerus in an affected dog was also markedly shortened with flattened articular surfaces. Similar changes were seen in the hind limbs with marked shortening and deformity of the femur resulting in subluxation of the hip joint and secondary deformity of the acetabula. So far, no clinically overt consequences such as osteoarthritis and lameness due to the skeletal changes have been observed in the affected dogs. However, the oldest affected dog in Ludwig-Peisker et al. (2022) was only 7 years old. Human patients with PCYT1A variants are affected by spondylometaphyseal dysplasia with cone-rod dystrophy and develop an early-onset progressive visual impairment associated with a pigmentary maculopathy and cone-rod dysfunction. The ophthalmologic examination of a single affected Vizsla at seven years of age did not reveal any signs of cone-rod dystrophy (Ludwig-Peisker et al. 2022). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388246555 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: By whole-genome resequencing of one of the affected dogs at 19.9x coverage and comparing the data to 926 control genomes, Ludwig-Peisker et al. (2022) identified a single private homozygous protein changing variant in the cirtical interval on chromosome 33. "This variant affected the PCYT1A gene encoding phosphate cytidylyltransferase 1A, choline, which has also been termed choline-phosphate cytid… Evidence (references) - 2022. PCYT1A missense variant in Vizslas with disproportionate dwarfism. Genes (Basel) — PubMed:PMID36553621 | DOI:10.3390/genes13122354 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:123695 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:608940 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [443]

Volpino Italiano — Primary lens luxation; isolated canine ectopia lentis; luxatio lentis (hereditary; OMIA-verified breed predisposition)

Breed: Volpino Italiano (Dog) [100]

Waller — Ivermectin sensitivity (hereditary; OMIA-verified breed predisposition)

Breed: Waller (Dog) [123]

Weimaraner — Calvarial hyperostotic syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Weimaraner (Dog) [91]

Weimaraner — Congenital mirror movement disorder 1 (hereditary; OMIA-verified breed predisposition)

Disorder: Congenital mirror movement disorder 1 [444]

Clin feat: Schwarz et al. (2025): Three of 11 puppies in a litter of Weimaraner dogs exhibited an abnormal gait characterized by synchronized saltatorial locomotion.. The initial presentation included tetraparesis and ataxia on all four limbs with the pelvic limbs being more severely affected. Difficulty in rising on the pelvic limbs and stumbling on the thoracic limbs were observed. The pelvic limb gait showed a bunny-hopping appearance with synchronized saltatorial locomotion. Saltatorial gait was also present on the thoracic limbs. Behavior and mentation were normal and appeared similar between affected and unaffected dogs. The affected puppies from Schwarz et al. 2025 were euthanized at 8 weeks of age and further development of their gait abnormalities was not investigated.brEfnb3^-/- knockout mice exhibit a similar abnormal gait phenotype characterized by bunny-hopping and saltatorial locomotion (Kullander et al. 2001; Yokoyama et a. 2001). [444]

Pathology: Schwarz et al. (2025): No pathological changes were observed in any of the three affected Weimaraner puppies during a full-body postmortem examination. Systematic histological analyses of the brains, spinal cords, peripheral nerves, muscles, and all other organ systems with any of the stains used failed to identify any abnormal composition, aberrant structures, or any other lesions. In Efnb3^-/- mice, subtle neuroantomical changes and motor neurons crossing the spinal midline have been demonstrated (Kullander et al. 2001; Yokoyama et a. 2001). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 398299021 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Schwarz et al. (2025) "used linkage and autozygosity mapping followed by whole-genome sequencing of 3 affected dogs and 1489 control dogs" and identified "a 2-bp duplication in EFNB3 encoding ephrin-B3, a transmembrane protein important for axon guidance and spinal midline barrier formation during neurodevelopment. The identified variant, XM_038536724.1:c.643_644dup, is predicted to … Evidence (references) - 2021. Natural loss of function of ephrin-B3 shapes spinal flight circuitry in birds. Sci Adv — PubMed:PMID34117069 | DOI:10.1126/sciadv.abg5968 — OMIA Phene_Article / Article - 2025. EFNB3 frameshift variant in Weimaraner dogs with a condition resembling a congenital mirror movement disorder. Mov Disord — PubMed:PMID40401490 | DOI:10.1002/mds.30243 — OMIA Phene_Article / Article - 2001. Ephrin-B3 is the midline barrier that prevents corticospinal tract axons from recrossing, allowing for unilateral motor control. Genes Dev — PubMed:PMID11297511 | DOI:10.1101/gad.868901 — OMIA Phene_Article / Article - 2001. Forward signaling mediated by ephrin-B3 prevents contralateral corticospinal axons from recrossing the spinal cord midline. Neuron — PubMed:PMID11182083 | DOI:10.1016/s0896-6273(01)00182-9 — OMIA Phene_Article / Article - 2025. Comment on Schwarz et al. "EFNB3 frameshift variant in Weimaraner dogs with a condition resembling a congenital mirror movement disorder". Mov Disord — PubMed:PMID40772461 | DOI:10.1002/mds.70001 — OMIA Phene_Article / Article - 2025. Reply to: "EFNB3 frameshift variant in Weimaraner dogs with a condition resembling a congenital mirror movement disorder". Mov Disord — PubMed:PMID40772476 | DOI:10.1002/mds.70000 — OMIA Phene_Article / Article - 2025. Germline variant call accuracy in whole genome sequence data from canine formalin-fixed paraffin-embedded tissue samples. Genes (Basel) — PubMed:PMID41300821 | DOI:10.3390/genes16111371 — OMIA Phene_Article / Article [444]

Weimaraner — Dystonia-ataxia syndrome, paroxysmal, TNR-related (hereditary; OMIA-verified breed predisposition)

Clin feat: Christen et al. (2023): Four Weimaraner dogs (3 males and 1 female) from three different litters were presented for episodes of abnormal gait characterized by increased muscle contractions (dystonia), ataxia, and hypermetria, leading to occasional collapse. Kyphosis and low head carriage were also consistent features... The age of onset was 3 to 7 months. Increased emotional arousal or exercise was reported to trigger the abnormal episodes, which could occur multiple times daily for 5 to 15 minutes. Two dogs displayed intermittent anisocoria associated with the episodes. Resting physical and neurological examinations were unremarkable in all cases, although the reported abnormalities were elicited by short periods of exercise in 3 dogs. Results of diagnostic investigations, including hematology, biochemistry, urine organic acids, lactate and pyruvate levels, enzymatic testing for storage diseases, acetylcholine receptor antibodies, muscle and nerve biopsies, MRI (brain and spinal cord), cerebrospinal fluid analysis, and electrophysiology, were mainly unremarkable Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388254795 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Christen et al. (2023): "Whole genome sequencing revealed a private frameshift variant in the TNR (tenascin-R) gene in an affected dog, XM_038542431.1:c.831dupC, which is predicted to truncate more than 75% of the open read frame. Genotypes in a cohort of 4 affected and 70 unaffected Weimaraners showed perfect association with the disease phenotype." Evidence (references) - 2023. A TNR frameshift variant in Weimaraner dogs with an exercise-induced paroxysmal movement disorder. Mov Disord — PubMed:PMID37023257 | DOI:10.1002/mds.29391 — OMIA Phene_Article / Article - 2024. Canine paroxysmal dyskinesia-a review. Front Vet Sci — PubMed:PMID39119350 | DOI:10.3389/fvets.2024.1441332 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:619653 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:601995 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [445]

Weimaraner — Hypomyelination of the central nervous system (hereditary; OMIA-verified breed predisposition)

Clin feat: Affected animals present with generalised tremors at about 2 to 3 weeks of age (Kornegay et al., 1987; Pemberton et al., 2014). Clinical signs gradually resolve in most dogs by 3 to 4 months of age (Kornegay et al., 1987; Pemberton et al., 2014), though some dogs retained a persistent fine tremor of the hind limbs (Pemberton et al., 2014). Pemberton et al. (2014) suggest that hyppomyelination previously described in Chow Chow dogs (Vandevelde and Braund, 1981; Vandevelde et al., 1978) is identical to the disease in Weimaraner dogs. [446]

Pathology: Kornegay et al., (1987) Many axons in the brain and spinal cord were either thinly myelinated or nonmyelinated in the affected dogs relative to the controls, while the peripheral nervous system was normally myelinated. The degree of hypomyelination seemed particularly severe at the periphery of the lateral and ventral funiculi of the spinal cord. In all areas of white matter evaluated, astrocytes subjectively outnumbered oligodendrocytes in the [affeted] Weimaraners. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388244185 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: After sequencing the most obvious candidate gene in the candidate region (see Mapping section) and discovering no mutations, Pemberton et al. (2014) sequenced all 199 exons of the remaining 16 genes in that region, yielding 54 variants, only one of which had the potential to be deleterious. This variant turned out to be the causal mutation: "a deletion of a single A nucleotide within exon 9 of the… Evidence (references) - 2010. Hypomyelination in three Weimaraner dogs. J Small Anim Pract — PubMed:PMID20973788 | DOI:10.1111/j.1748-5827.2010.00997.x — OMIA Phene_Article / Article - 1987. Hypomyelination in Weimaraner dogs. Acta Neuropathol — PubMed:PMID3577694 — OMIA Phene_Article / Article - 1988. Weakness associated with spinal subpial myelopathy in a Weimaraner puppy. Journal of Small Animal Practice — OMIA Phene_Article / Article - 2014. A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia — PubMed:PMID24272703 | DOI:10.1002/glia.22582 — OMIA Phene_Article / Article - 1978. Mode of cerebellar functioning in contact placing in kittens [proceedings]. J Physiol — PubMed:PMID731520 — OMIA Phene_Article / Article - 1978. Dysmyelination of the central nervous system in the Chow-Chow dog. Acta Neuropathol — PubMed:PMID676669 | DOI:10.1007/BF00690359 — OMIA Phene_Article / Article - 1981. Dysmyelination in Chow Chow dogs: further studies in older dogs. Acta Neuropathol — PubMed:PMID7315204 | DOI:10.1007/BF00699232 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:612768 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [446]

Welsh Corgi — MPS VI (hereditary; OMIA-verified breed predisposition)

Breed: Welsh Corgi (Dog) [213]

Welsh Sheepdog — This is the classic M (Merle) locus (Little, 1957) (hereditary; OMIA-verified breed predisposition)

Breed: Welsh Sheepdog (Dog) [118]

Welsh Springer Spaniel — Cardiomyopathy, dilated, PLN-related (hereditary; OMIA-verified breed predisposition)

Breed: Welsh Springer Spaniel (Dog) [447]

Clin feat: Yost et al. (2019): Clinical evaluation of the proband and four littermates demonstrated echocardiographically evident left ventricular dilation, systolic dysfunction and ventricular arrhythmias.... One affected female littermate is still alive at 44 months of age and is managed with routine medical care including an ace inhibitor (enalapril), inodilator (pimobendan) and an antiarrhythmic (sotalol). [447]

Pathology: Yost et al. (2019): Necropsy evaluation of the dogs that died suddenly identified gross findings of mild biventricular dilation, and histologic findings of moderate to diffuse fatty infiltration of the left ventricle, myofiber loss and interstitial edema, mild interstitial fibrosis and mild lymphocytic infiltration. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388207564 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Yost et al. (2019) "characterized genetic aspects of familial DCM in a [Welsh springer spaniel] canine model with a high incidence of sudden death. A missense G > A mutation in exon 1 of the phospholamban [PLN] gene that changed . . . [the 9th] amino acid from arginine to histidine [R9H] was identified in affected dogs. This variant was predicted to be deleterious. . . . The dam . . . , the sir… Evidence (references) - 2019. The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model. Gene — PubMed:PMID30794913 | DOI:10.1016/j.gene.2019.02.022 — OMIA Phene_Article / Article - 2022. Screening for dilated cardiomyopathy in dogs. J Vet Cardiol — PubMed:PMID34732313 | DOI:10.1016/j.jvc.2021.09.004 — OMIA Phene_Article / Article - 2003. Proposed guidelines for the diagnosis of canine idiopathic dilated cardiomyopathy. J Vet Cardiol — PubMed:PMID19081360 | DOI:10.1016/S1760-2734(06)70047-9 — OMIA Phene_Article / Article - 2022. Genetic basis of dilated cardiomyopathy in dogs and its potential as a bidirectional model. Animals (Basel) — PubMed:PMID35804579 | DOI:10.3390/ani12131679 — OMIA Phene_Article / Article - 2023. The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract — PubMed:PMID37423841 | DOI:10.1016/j.cvsm.2023.05.016 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:609909 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613874 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:172405 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [447]

Welsh Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Welsh Terrier (Dog) [68]

West Highland White Terrier — Autosomal dominant polycystic kidney disease (ADPKD); Bull terrier polycystic kidney disease (BTPKD); renal cystic disease (hereditary; OMIA-verified breed predisposition)

Breed: West Highland White Terrier (Dog) [202]

West Highland White Terrier — Stiff skin syndrome (hereditary; OMIA-verified breed predisposition)

Clin feat: As reported by Doelle et al. (2016), Affected dogs exhibited markedly indurated skin that was attached firmly to the underlying tissue and incomplete closure of the mouth and eyes. No abnormalities were found by neurological or orthopaedic examination, radiographs of the head or whole body computed tomography. Histologically, the dermis and pannicular septa were thickened by a marked increase in coarse collagen fibres and a mild to moderate increase in collagen fibre diameter. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2016. Initial characterization of stiff skin-like syndrome in West Highland white terriers.. Vet Dermatol — PubMed:PMID27188772 | DOI:10.1111/vde.12316 — OMIA Phene_Article / Article - 2016. Initial characterization of stiff skin-like syndrome in West Highland white terriers. Vet Dermatol — PubMed:PMID27188772 | DOI:10.1111/vde.12316 — OMIA Phene_Article / Article - 2016. Initial characterization of stiff skin-like syndrome in West Highland white terriers. Vet Dermatol — PubMed:PMID27188772 | DOI:10.1111/vde.12316 — OMIA Phene_Article / Article - 2016. Initial characterization of stiff skin-like syndrome in West Highland white terriers. Vet Dermatol — PubMed:PMID27188772 | DOI:10.1111/vde.12316 — OMIA Phene_Article / Article - 2016. Initial characterization of stiff skin-like syndrome in West Highland white terriers. Vet Dermatol — PubMed:PMID27188772 | DOI:10.1111/vde.12316 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:184900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:184900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:184900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:184900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:184900 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [448]

Wheaten Terrier — XX sex reversal, XX DSD testicular/ovotesticular (hereditary; OMIA-verified breed predisposition)

Breed: Wheaten Terrier (Dog) [60]

Whippet — Bald thigh syndrome (hereditary; OMIA-verified breed predisposition)

Breed: Whippet (Dog) [292]

Whippet — Hypermuscularity; gross muscle hypertrophy; 'bully' whippets (hereditary; OMIA-verified breed predisposition)

Disorder: Hypermuscularity; gross muscle hypertrophy; 'bully' whippets [449]

Summary: In addition to the occurrence of natural variants for this trait, variants have been created artificially (e.g. Zou et al., 2015): Genetically-modifed organism; GMO. [449]

Clin feat: Affected dogs show an unusual amount of muscularity, especially in the neck and legs. They are broad chested and typically don’t conform to the breed standard (slim, long neck, pointed snout) (Mosher et al., 2007). Dogs with a single copy of the mutation show a smaller degree of hypermuscularity are significantly faster than homozygous wild-type whippets (Mosher et al., 2007). Hence, being heterozygous for the mutation is considered performance enhancing. For whippets with a double copy of the mutation, there is little evidence about potential associated health risks. It has been anecdotally reported amongst breeders that affected whippets are otherwise generally healthy and only suffer from occasional muscle cramps and a distinctive overbite (Mosher et al., 2007). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: GDF8 (Entrez Gene ID 26535682) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 2007. A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet — PubMed:PMID17530926 | DOI:10.1371/journal.pgen.0030079 — OMIA Phene_Article / Article - 2007. Gross muscle hypertrophy in whippet dogs is caused by a mutation in the myostatin gene. Neuromuscul Disord — PubMed:PMID17651971 | DOI:10.1016/j.nmd.2007.06.008 — OMIA Phene_Article / Article - 2011. Mutations in the myostatin gene leading to hypermuscularity in mammals: indications for a similar mechanism in fish?. Anim Genet — PubMed:PMID21175702 | DOI:10.1111/j.1365-2052.2010.02144.x — OMIA Phene_Article / Article - 2018. The myostatin gene: an overview of mechanisms of action and its relevance to livestock animals. Anim Genet — PubMed:PMID30125951 | DOI:10.1111/age.12696 — OMIA Phene_Article / Article - 2021. Deciphering myostatin's regulatory, metabolic, and developmental influence in skeletal diseases. Front Genet — PubMed:PMID33854530 | DOI:10.3389/fgene.2021.662908 — OMIA Phene_Article / Article - 2015. Generation of gene-target dogs using CRISPR/Cas9 system. J Mol Cell Biol — PubMed:PMID26459633 | DOI:10.1093/jmcb/mjv061 — OMIA Phene_Article / Article - 2007. Sprinting without myostatin: a genetic determinant of athletic prowess. Trends Genet — PubMed:PMID17884234 | DOI:10.1016/j.tig.2007.08.008 — OMIA Phene_Article / Article - 2025. Evolutionary characteristics, biochemical structure, and function impact of MSTN gene. Genes Dis — PubMed:PMID40727588 | DOI:10.1016/j.gendis.2025.101668 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:601788 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614160 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [449]

Whippet — Retinal atrophy, progressive, Whippet (hereditary; OMIA-verified breed predisposition)

Clin feat: As reported by Somma et al. (2017), The retinal dystrophy reported here in Whippet dogs has a unique phenotype of an initial lack of ERG b-wave, development of retinal bullae then a progressive generalized retinal degeneration. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: PRA-CaBP4 (Moffat et al., 2024) (no structured Phene_Gene link) Evidence (references) - 2017. Characterization of a novel form of progressive retinal atrophy in Whippet dogs: a clinical, electroretinographic, and breeding study. Vet Ophthalmol — PubMed:PMID27896899 | DOI:10.1111/vop.12448 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article [450]

White Swiss Shepherd Dog — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: White Swiss Shepherd Dog (Dog) [68]

White Swiss Shepherd Dog — Cerebellar hypoplasia (hereditary; OMIA-verified breed predisposition)

Disorder: Cerebellar hypoplasia [451]

Summary: References to other forms of lissencephaly were previously listed here but have been moved to OMIA:002771-9615: Lissencephaly, generic in Canis lupus familiaris [22/09/2023] [451]

Clin feat: Littlejohn et al. (2023): Two affected White Swiss Shepherd puppies were born clinically normal.. Both [cerebellar hypoplasia] CH-affected puppies failed to gain weight and developed progressive ataxia from around 2 weeks of age. The puppies had difficulty standing, could not walk in a straight line, had a good suckle reflex but had difficulty latching on to the teat. The puppies had no spontaneous or positional nystagmus, had a normal pupillary light reflex, lacked a menace reflex (normal for age) and segmental spinal reflexes were intact.. the puppies were euthanised at 4 weeks of age.. [451]

Pathology: Littlejohn et al. (2023): Autopsy [of two affected White Swiss Shepherd puppies] revealed anatomical abnormalities in the brains of both affected puppies, with both animals showing severe CH with lissencephaly. and moderate internal hydrocephalus with distended lateral and fourth ventricles.. In both puppies the cerebellum lacked cerebellar folia.. Microscopically, the normal layered structure. of the cerebellum was disorganised. and the molecular and granular layers were thin, with the granular layer of irregular thickness. and often forming islands of cells.. Purkinje cells were scattered throughout all layers.. Vascular structures were prominent. The cerebrum lacked sulci and gyri (agyria) and the white matter was thinned. The cerebral cortex was disorganised with increased thickness of the cortical laminae and neuronal cell bodies that were not vertically aligned. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388249897 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Littlejohn et al. (2023) "describe a genetic investigation of cerebellar hypoplasia in White Swiss Shepherd dogs, where two affected puppies were identified from a litter with a recent common ancestor on both sides of their pedigree. Whole genome sequencing was conducted for 10 dogs in this family ... [and identified] a frameshift-deletion of the Reelin (RELN) gene (p.Val947*)." Evidence (references) - 2023. A frameshift-deletion mutation in Reelin causes cerebellar hypoplasia in White Swiss Shepherd dogs. Anim Genet — PubMed:PMID37334487 | DOI:10.1111/age.13336 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:257320 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:600514 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [451]

Wire Fox Terrier — Canine degenerative myelopathy, hereditary canine spinal muscular atrophy (hereditary; OMIA-verified breed predisposition)

Breed: Wire Fox Terrier (Dog) [68]

Wire Fox Terrier — Van den Ende-Gupta syndrome (hereditary; OMIA-verified breed predisposition)

Clin feat: Hytönen et al. (2016): Wire Fox Terrier breeders contacted us for help in the characterization of an unknown congenital syndrome with severe mandibular prognathia and other skeletal features, mainly severe patellar luxation, in the breed Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389414972 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Hytönen et al. (2016) identified a likely causal mutation in Wire Fox Terriers as a "c.865_866delTC variant [that] results in a frameshift and a premature stop codon, (p.S289Gfs*15), leading to a truncated protein in the first half of the coding region". Evidence (references) - 2016. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS Genet — PubMed:PMID27187611 | DOI:10.1371/journal.pgen.1006037 — OMIA Phene_Article / Article - 2016. Canine models of human rare disorders. Rare Dis — PubMed:PMID27803843 | DOI:10.1080/21675511.2016.1241362 — OMIA Phene_Article / Article - 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:600920 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613619 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [452]

Wirehaired Pointing Griffon — Coat colour, roan (hereditary; OMIA-verified breed predisposition)

Breed: Wirehaired Pointing Griffon (Dog) [105]

Wirehaired Pointing Griffon — Juvenile cataract (FYCO1-frameshift deletion) (hereditary; OMIA-verified breed predisposition)

Disorder: Juvenile cataract (FYCO1-frameshift deletion) [453]

Clin feat: Rudd Garces et al. (2022): A breeder noticed signs of body imbalance in the affected puppies and difficulties following the other littermates at 8 weeks of age. Private clinical and ophthalmological examinations revealed the presence of opaque spots in the eyes and blindness, corresponding to signs of juvenile cataract. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 388245073 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Rudd Garces et al. (2022): "Whole-genome sequencing of an affected dog revealed 12 protein-changing variants that were not present in 566 control genomes, of which two were located in functional candidate genes, FYCO1 and CRYGB. Targeted genotyping of both variants in the investigated family excluded CRYGB and revealed perfect co-segregation of the FYCO1 variant with the juvenile cataract phenotyp… Evidence (references) - 2022. FYCO1 frameshift deletion in Wirehaired Pointing Griffon dogs with juvenile cataract. Genes (Basel) — PubMed:PMID35205377 | DOI:10.3390/genes13020334 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:610019 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607182 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [453]

Working Kelpie — Cerebellar abiotrophy, VMP1-related (hereditary; OMIA-verified breed predisposition)

Breed: Working Kelpie (Dog) [454]

Summary: Cerebellar abiotropy has been first described in Australian kelpies by Thomas and Robertson in 1989. Wade et al. (2022) identified two distinct clinical and pathological features of CA in Australian working kelpies. These were associated with two separate genomic regions. An early-onset CA form is observable within a few weeks of birth and in some cases is seen within days of birth. This form affects dogs that are homozygous for a risk marker on CFA20 [see 'OMIA 000175-9615: Cerebellar abiotrophy in Canis lupus familiaris']. A second region of association, identified on CFA9, is associated with a later-onset form of CA [described in this OMIA entry] that is not usually diagnosed until the dogs are 4–6 months or older. [454]

Clin feat: Clinical presentation in the two forms of CA in Australian Kelpies mainly differ in regard to onset of clinical signs. The form with later onset of disease at 4-6 month of age is associated with the VMP1 variant (Wade et al., 2022). Clinical signs include ataxia, wide-based stance, head tremors/intention tremor, dysmetria/incoordination, hypermetria/high-stepping gate, decreased limb proprioception (particularly hind limbs), and/or body tremors when excited. The condition is non-painful and does not affect the dog’s normal mentation or alertness. More severe forms can include fitting/grand mal seizures when overheated or excited. The condition may present mildly with only occasional periods of incoordination and no progression to more severe forms. Commonly, it will present with signs that become more obvious or progress as the animal ages (Thomas and Robertson, 1989; Shearman et al., 2008; Shearman et al., 2011; Pan et al., 2017; Wade et al., 2022). [454]

Pathology: Wade et al. (2022) Histopathology shows that affected animals regardless of age of onset exhibit granule cell loss, regional Purkinje cell loss and activated astrocytes. However, the histopathological features are distinct between animals affected with the early-onset disease associated with homozygosity at CFA20 and those affected with the later-onset disease that were homozygous at CFA9. The early-onset group (CFA20) demonstrate abnormality of foliar development in the cerebellar cortex, and a relatively reduced molecular layer (ML). Dogs that were homozygous for the CFA9 locus had normal foliar development, later disorder onset, and demonstrated axonal spheroids in their white matter tracts. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: TMEM49 (Entrez Gene ID 388255333) — OMIA Phene_Gene / GeneSynonym - OMIA molecular-genetics note: Wade et al. (2022): "one dog exhibiting symptoms of CA, its dam, and a sib without symptoms at the time of observation ... were subjected to whole-genome sequencing (WGS) on the Illumina HiSeq 2500 platform ... . A further five whole genome sequences from unrelated healthy AWK were obtained by collaboration ... . ... The most associated array marker: BICF2G630835610 CFA9:32,949,504G>A, (pgenome 5.… Evidence (references) - 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article - 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article - 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article - 2017. Exclusion of known gene loci for cerebellar abiotrophy in the Australian Working Kelpie. Anim Genet — PubMed:PMID28850678 | DOI:10.1111/age.12594 — OMIA Phene_Article / Article - 2022. Cerebellar abiotrophy in Australian Working Kelpies is associated with two major risk loci. Genes (Basel) — PubMed:PMID36292596 | DOI:10.3390/genes13101709 — OMIA Phene_Article / Article - 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:611753 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [454]

Xoloitzcuintli — Canine ectodermal dysplasia (hereditary; OMIA-verified breed predisposition)

Breed: Xoloitzcuintli (Dog) [220]

Yorkshire Terrier — Alaskan Husky Encephalopathy (AHE) (hereditary; OMIA-verified breed predisposition)

Breed: Yorkshire Terrier (Dog) [67]

Yorkshire Terrier — XY difference of sexual development, generic (hereditary; OMIA-verified breed predisposition)

Summary: Information relating to differences in sexual development due to variants in the HSD17B3 previously listed here have been moved to OMIA:002777-9615: XY difference of sexual development, HSD17B3-related in Canis lupus familiaris [28/09/2023]. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies.. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article - 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive).. J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article - 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism.. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article - 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3.. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article - 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development.. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article - 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs.. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article - 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs.. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article - 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males.. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article - 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping.. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article - 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article - 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article - 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article - 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article - 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article - 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article - 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article - 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article - 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article - 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article - 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article - 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article - 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article - 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article - 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article - 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article - 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article - 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article - 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article - 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article - 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article - 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article - 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article - 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article - 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article - 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article - 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article - 2012. Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev — PubMed:PMID21893969 | DOI:10.1159/000330921 — OMIA Phene_Article / Article - 2013. Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet — PubMed:PMID23378246 | DOI:10.1007/s13353-013-0137-1 — OMIA Phene_Article / Article - 2019. Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev — PubMed:PMID31055572 | DOI:10.1159/000500219 — OMIA Phene_Article / Article - 2019. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet — PubMed:PMID31476086 | DOI:10.1111/age.12850 — OMIA Phene_Article / Article - 2021. Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol — PubMed:PMID34509739 | DOI:10.1016/j.domaniend.2021.106654 — OMIA Phene_Article / Article - 2022. Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet — PubMed:PMID34664728 | DOI:10.1111/age.13147 — OMIA Phene_Article / Article - 2022. Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics — PubMed:PMID35597501 | DOI:10.1016/j.ygeno.2022.110389 — OMIA Phene_Article / Article - 2020. Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol — PubMed:PMID32991314 | DOI:10.26402/jpp.2020.3.05 — OMIA Phene_Article / Article - 2025. XY disorder of sexual development in a dog: a case study by histopathology, genotyping and karyotyping. Vet Res Commun — PubMed:PMID39903346 | DOI:10.1007/s11259-025-10664-5 — OMIA Phene_Article / Article [455]

Species-Specific Health

Dog (Canis lupus familiaris) — Afibrinogenaemia or hypofibrinogenaemia (hereditary; OMIA-verified species predisposition)

Species: Dog (Canis lupus familiaris) [456]

Disorder: Afibrinogenaemia or hypofibrinogenaemia [456]

Summary: see also OMIA:002382-9615: Afibrinogenaemia, FGA-related Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Causal variant(s) - Variant: chromosome 13; pathogenicity class 1 — OMIA Variant / Variant_Phene - Variant: chromosome 13; pathogenicity class 1 — OMIA Variant / Variant_Phene Evidence (references) - 2005. Afibrinogenemia and a circulating antibody against fibrinogen in a Bichon Frise dog. Vet Clin Pathol — PubMed:PMID15902668 — OMIA Phene_Article / Article - 1988. Inherited coagulation disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID3282382 | DOI:10.1016/s0195-5616(88)50018-9 — OMIA Phene_Article / Article - 2017. Fibrinogen deficiency in a dog - a case report. BMC Vet Res — PubMed:PMID28629414 | DOI:10.1186/s12917-017-1110-8 — OMIA Phene_Article / Article - 2012. Treatment of afibrinogenemia in a chihuahua. J Am Anim Hosp Assoc — PubMed:PMID23148136 | DOI:10.5326/JAAHA-MS-5837 — OMIA Phene_Article / Article - 1999. Hereditary bleeding disorders in dogs and cats. Vet. Med. — OMIA Phene_Article / Article - 1971. Afibrinogenämie beim Hund [Afibrinogenaemia in the dog]. Zentralbl Veterinarmed A — DOI:https://doi.org/10.1111/j.1439-0442.1971.tb00569.x — OMIA Phene_Article / Article - 2005. Afibrinogenemia and a circulating antibody against fibrinogen in a Bichon Frise dog. Vet Clin Pathol — PubMed:PMID15902668 — OMIA Phene_Article / Article - 1988. Inherited coagulation disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID3282382 | DOI:10.1016/s0195-5616(88)50018-9 — OMIA Phene_Article / Article - 2017. Fibrinogen deficiency in a dog - a case report. BMC Vet Res — PubMed:PMID28629414 | DOI:10.1186/s12917-017-1110-8 — OMIA Phene_Article / Article - 2012. Treatment of afibrinogenemia in a chihuahua. J Am Anim Hosp Assoc — PubMed:PMID23148136 | DOI:10.5326/JAAHA-MS-5837 — OMIA Phene_Article / Article - 1999. Hereditary bleeding disorders in dogs and cats. Vet. Med. — OMIA Phene_Article / Article - 1971. Afibrinogenämie beim Hund [Afibrinogenaemia in the dog]. Zentralbl Veterinarmed A — DOI:https://doi.org/10.1111/j.1439-0442.1971.tb00569.x — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:202400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:202400 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [456]

Dog (Canis lupus familiaris) — Aortic stenosis, subvalvular (hereditary; OMIA-verified species predisposition)

Disorder: Aortic stenosis, subvalvular [457]

Summary: "Subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects of dogs. that can result in fainting, a shortened life span, or sudden death.. The disease is characterized by obstruction of the left ventricular outflow tract, resulting in pressure overload on the left ventricle. The etiology of obstruction is a fibromuscular nodule, ridge, or ring of tissue that increases aortic outflow tract velocity." (Ontiveros and Stern, 2021) See also OMIA:000952-9615: Subaortic stenosis in Canis lupus familiaris [457]

Prevalence: "The prevalence of this disease was reported at 4.7 % in a large veterinary referral hospital." (Ontiveros and Stern, 2021) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1989. Medical and Surgical Management of Aortic Stenosis in a Dog. Canadian Veterinary Journal-Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1989. Canine Congenital Aortic Stenosis - A Review of the Literature and Commentary. Canadian Veterinary Journal-Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1994. Clinical and Pathological Characterization of an Unusual Form of Subvalvular Aortic Stenosis in 4 Golden Retriever Puppies. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1995. Sedation and anesthesia in dogs and cats with cardiovascular disease. Schweizer Archiv Fur Tierheilkunde — PubMed:PMID7569846 — OMIA Phene_Article / Article - 1997. Open resection for subvalvular aortic stenosis in dogs (vol 209, pg 1255, 1996). Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1997. Retrospective study of congenital heart defects in 151 dogs. Journal of Small Animal Practice — PubMed:PMID9097239 — OMIA Phene_Article / Article - 1997. Surgical management of subvalvular aortic stenosis and mitral dysplasia in a golden retriever. Journal of Small Animal Practice — PubMed:PMID9200115 — OMIA Phene_Article / Article - 1998. Analysis ofmurmur intensity, duration and frequency components in dogs with aortic stenosis. Journal of Small Animal Practice — PubMed:PMID9693417 — OMIA Phene_Article / Article - 1998. Clinical and pathological findings of severe subvalvular aortic stenosis and mitral dysplasia in a rottweiler puppy. Journal of Small Animal Practice — PubMed:PMID9816571 — OMIA Phene_Article / Article - 2000. Prevalence of murmurs consistent with aortic stenosis among boxer dogs in Norway and Sweden. Veterinary Record — PubMed:PMID10975330 — OMIA Phene_Article / Article - 2000. Progression of aortic stenosis in the boxer. Journal of Small Animal Practice — PubMed:PMID11072913 — OMIA Phene_Article / Article - 2009. Congenital heart disease in boxer dogs: results of 6 years of breed screening. Vet J — PubMed:PMID18400530 | DOI:10.1016/j.tvjl.2008.02.008 — OMIA Phene_Article / Article - (17 additional references in OMIA) - 1989. Medical and Surgical Management of Aortic Stenosis in a Dog. Canadian Veterinary Journal-Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1989. Canine Congenital Aortic Stenosis - A Review of the Literature and Commentary. Canadian Veterinary Journal-Revue Veterinaire Canadienne — OMIA Phene_Article / Article - 1994. Clinical and Pathological Characterization of an Unusual Form of Subvalvular Aortic Stenosis in 4 Golden Retriever Puppies. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1995. Sedation and anesthesia in dogs and cats with cardiovascular disease. Schweizer Archiv Fur Tierheilkunde — PubMed:PMID7569846 — OMIA Phene_Article / Article - 1997. Open resection for subvalvular aortic stenosis in dogs (vol 209, pg 1255, 1996). Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1997. Retrospective study of congenital heart defects in 151 dogs. Journal of Small Animal Practice — PubMed:PMID9097239 — OMIA Phene_Article / Article - 1997. Surgical management of subvalvular aortic stenosis and mitral dysplasia in a golden retriever. Journal of Small Animal Practice — PubMed:PMID9200115 — OMIA Phene_Article / Article - 1998. Analysis ofmurmur intensity, duration and frequency components in dogs with aortic stenosis. Journal of Small Animal Practice — PubMed:PMID9693417 — OMIA Phene_Article / Article - 1998. Clinical and pathological findings of severe subvalvular aortic stenosis and mitral dysplasia in a rottweiler puppy. Journal of Small Animal Practice — PubMed:PMID9816571 — OMIA Phene_Article / Article - 2000. Prevalence of murmurs consistent with aortic stenosis among boxer dogs in Norway and Sweden. Veterinary Record — PubMed:PMID10975330 — OMIA Phene_Article / Article - 2000. Progression of aortic stenosis in the boxer. Journal of Small Animal Practice — PubMed:PMID11072913 — OMIA Phene_Article / Article - 2009. Congenital heart disease in boxer dogs: results of 6 years of breed screening. Vet J — PubMed:PMID18400530 | DOI:10.1016/j.tvjl.2008.02.008 — OMIA Phene_Article / Article - (17 additional references in OMIA) [457]

Dog (Canis lupus familiaris) — BOAS (hereditary; OMIA-verified species predisposition)

Disorder: BOAS [458]

Summary: Brachycephalic Obstructive Airway Syndrome (BOAS) is a condition where the animal's ability to breathe, as well as it's ability to engage in normal behaviours is impacted negatively due to brachycephaly (the shape of a skull is shorter than typical for its species). In dogs, narrowed nostrils (stenotic nares), elongated soft palate, enlarged tongue, and reduced diameter of the windpipe have been associated with the condition (Ekenstedt et al., 2023). Elongated soft palates have been reported in non-brachycephalic dogs (Himel et al., 2023). Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1989. Inherited and congenital airway conditions in dogs and cats. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1997. Brachycephalic airway obstruction syndrome - a review of 118 cases. Canine Practice — OMIA Phene_Article / Article - 2010. Brachycephalic airway obstructive syndrome in dogs: 90 cases (1991-2008). J Am Vet Med Assoc — PubMed:PMID21034343 | DOI:10.2460/javma.237.9.1048 — OMIA Phene_Article / Article - 1992. Brachycephalic airway syndrome. Vet Clin North Am Small Anim Pract — PubMed:PMID1523786 — OMIA Phene_Article / Article - 1991. Brachycephalic airway obstructive syndrome. Probl Vet Med — PubMed:PMID1802247 — OMIA Phene_Article / Article - 2011. Canine brachycephalic airway syndrome: surgical management. Compend Contin Educ Vet — PubMed:PMID21870354 — OMIA Phene_Article / Article - 2011. Canine brachycephalic airway syndrome: pathophysiology, diagnosis, and nonsurgical management. Compend Contin Educ Vet — PubMed:PMID21870353 — OMIA Phene_Article / Article - 2012. Brachycephalic airway syndrome: pathophysiology and diagnosis. Compend Contin Educ Vet — PubMed:PMID22847322 — OMIA Phene_Article / Article - 2012. Brachycephalic airway syndrome: management. Compend Contin Educ Vet — PubMed:PMID22935992 — OMIA Phene_Article / Article - 2013. Management of acute respiratory distress syndrome in a French Bulldog using airway pressure release ventilation. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID23855595 | DOI:10.1111/vec.12071 — OMIA Phene_Article / Article - 2013. Assessment of circulating concentrations of proinflammatory and anti-inflammatory cytokines and nitric oxide in dogs with brachycephalic airway obstruction syndrome. Am J Vet Res — PubMed:PMID23270361 | DOI:10.2460/ajvr.74.1.155 — OMIA Phene_Article / Article - 2012. Evaluation of C-reactive protein, haptoglobin and cardiac troponin 1 levels in brachycephalic dogs with upper airway obstructive syndrome. BMC Vet Res — PubMed:PMID22937913 | DOI:10.1186/1746-6148-8-152 — OMIA Phene_Article / Article - (86 additional references in OMIA) - 1989. Inherited and congenital airway conditions in dogs and cats. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1997. Brachycephalic airway obstruction syndrome - a review of 118 cases. Canine Practice — OMIA Phene_Article / Article - 2010. Brachycephalic airway obstructive syndrome in dogs: 90 cases (1991-2008). J Am Vet Med Assoc — PubMed:PMID21034343 | DOI:10.2460/javma.237.9.1048 — OMIA Phene_Article / Article - 1992. Brachycephalic airway syndrome. Vet Clin North Am Small Anim Pract — PubMed:PMID1523786 — OMIA Phene_Article / Article - 1991. Brachycephalic airway obstructive syndrome. Probl Vet Med — PubMed:PMID1802247 — OMIA Phene_Article / Article - 2011. Canine brachycephalic airway syndrome: surgical management. Compend Contin Educ Vet — PubMed:PMID21870354 — OMIA Phene_Article / Article - 2011. Canine brachycephalic airway syndrome: pathophysiology, diagnosis, and nonsurgical management. Compend Contin Educ Vet — PubMed:PMID21870353 — OMIA Phene_Article / Article - 2012. Brachycephalic airway syndrome: pathophysiology and diagnosis. Compend Contin Educ Vet — PubMed:PMID22847322 — OMIA Phene_Article / Article - 2012. Brachycephalic airway syndrome: management. Compend Contin Educ Vet — PubMed:PMID22935992 — OMIA Phene_Article / Article - 2013. Management of acute respiratory distress syndrome in a French Bulldog using airway pressure release ventilation. J Vet Emerg Crit Care (San Antonio) — PubMed:PMID23855595 | DOI:10.1111/vec.12071 — OMIA Phene_Article / Article - 2013. Assessment of circulating concentrations of proinflammatory and anti-inflammatory cytokines and nitric oxide in dogs with brachycephalic airway obstruction syndrome. Am J Vet Res — PubMed:PMID23270361 | DOI:10.2460/ajvr.74.1.155 — OMIA Phene_Article / Article - 2012. Evaluation of C-reactive protein, haptoglobin and cardiac troponin 1 levels in brachycephalic dogs with upper airway obstructive syndrome. BMC Vet Res — PubMed:PMID22937913 | DOI:10.1186/1746-6148-8-152 — OMIA Phene_Article / Article - (86 additional references in OMIA) [458]

Dog (Canis lupus familiaris) — Brachydactyly (hereditary; OMIA-verified species predisposition)

Disorder: Brachydactyly [459]

Summary: As described by Green (1957), this disorder is "a recessive mutant which reduces the size and function of the outside toes on the front and sometimes the hind feet, with the result that the affected animals are really "two-toed" on those feet". Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1957. Mutant stocks of cats and dogs offered for research. Journal of Heredity — OMIA Phene_Article / Article - 2020. Canine brachycephaly: anatomy, pathology, genetics and welfare. J Comp Pathol — PubMed:PMID32359622 | DOI:10.1016/j.jcpa.2020.02.008 — OMIA Phene_Article / Article - 1957. Mutant stocks of cats and dogs offered for research. Journal of Heredity — OMIA Phene_Article / Article - 2020. Canine brachycephaly: anatomy, pathology, genetics and welfare. J Comp Pathol — PubMed:PMID32359622 | DOI:10.1016/j.jcpa.2020.02.008 — OMIA Phene_Article / Article [459]

Dog (Canis lupus familiaris) — Canine hip dysplasia (hereditary; OMIA-verified species predisposition)

Disorder: Canine hip dysplasia [298]

Mode of inheritance: This disorder is a classic example of a multifactorial trait; it is definitely familial, but is equally definitely NOT due to a single gene. Heritability of liability has been estimated on many occasions. The most comprehensive review of CHD heritability published to date is by Janutta and Distl (2006) who present 105 estimates ranging from 0.00 to 0.93, based on 125,166 dogs, with an average of around 0.35. The most comprehensive large-scale analysis of CHD data is the one by Oberbauer et al. (2017) who estimated the heritability of CHD (scored according to the OFA criteria [see below] on 1,056,852 dogs representing 60 breeds) as ranging from 0.46 to 0.75, with an average of 0.57. [298]

Control: In order to devise a sensible control strategy, it is essential to distinguish between the trait that we wish to improve (the breeding objective) and the trait that is actually measured (called the selection criterion). In the case of hip dysplasia, the breeding objective is clinical expression of hip dysplasia, i.e. lameness. However, since clinical expression is very difficult to measure, and may not be expressed at an early age, the selection criterion in most hip dysplasia control programmes is 'radiographic' hip dysplasia (RHD), which is readily assessible at an early age. The fact that RHD is assessed subjectively does not detract from its usefulness as a selection criterion. All that is required is that RHD be measured on an arbitrary scale, and that this measurement has a positive genetic correlation with clinical hip dysplasia. Although no estimates of this correlation have been made, the available evidence (e.g., Lewis et al., 2025) indicates that it is positive and sufficiently high to justify the use of RHD as the selection criterion in control programmes. The heritability is sufficiently high to justify a selection programme based on simple mass selection, i.e. selection of individuals according to their own phenotype. However, selection is more effective if the data are subjected to a proper quantitative genetic analysis using mixed models to calculate an Estimated Breeding Values (EBV) for each animal, which provides the best possible prediction (based just on phenotypic information) of the RHD score to be expected in the offspring of that animal. Three of the major scoring schemes used around the world involve evaluation of a hip-extended radiograph. Flückiger (2007) and Verhoeven et al. (2012) summarise each of these three schemes. One of these was devised for the British Veterinary Association (BVA) and the German Shepherd League (Willis, 1989, p. 165), and is now the standard BVA/KC (Kennel Club) scheme for almost all breeds in the UK, New Zealand and Australia. It involves the scoring of nine different features on each hip, as assessed from a hip-extended radiograph. For one of the nine traits (Caudal acetabular edge), the score is on a scale from 0 (ideal) to 5 (worst); for the other eight traits the score is from 0 (ideal) to 6 (worst), giving a total potential range of scores for each hip from 0 to 53, and a total dog score ranging from 0 to 106 (Dennis, 2012). With such a large range of possible scores, selection on RHD is essentially the same as selection on a continuously varying trait such as body weight; in effect, this scoring scheme has changed RHD from a threshold trait to a conventional multifactorial (quantitative trait). This provides a substantial advantage to breeders wishing to decrease the incidence and severity of hip dysplasia. A large-scale analysis of "data from dogs of six breeds [Labrador Retriever, Golden Retriever, German Shepherd Dog, Rottweiler, Bernese Mountain Dog), and Newfoundland] scored [in the BVA/KC Hip and Elbow Dysplasia grading schemes] from 1990 to present" by James et al. (2019) "demonstrated evidence of improving genetic trends with respect to hip score and elbow grade in [the above] six UK registered breeds in line with phenotypic improvements and participation in screening schemes." The other two hip-extended schemes involve multiple thresholds rather than a continuous score. The scheme run by the Orthopedic Foundation for Animals (OFA) in the USA classifies dogs into one of seven categories: Normal (Excellent, Good, Fair), Borderline, and Dysplastic (Mild, Moderate, Severe). In a large-scale study of over 1 million OFA hip dysplasia records and over 275,000 elbow dysplasia records from 60 breeds, Oberbauer et al. (2017) "demonstrated that there has been overall improvement in hip and elbow conformation with a reduction in EBV for disease liability, although the breeds differed in the magnitude of the response to selection." Leighton et al. (2019) analysed data from German Shepherd Dogs, Labrador Retrievers and Golden Retrievers within The Seeing Eye Inc. populations, in which careful and extensive selection has been conducted on a score very similar to the OFA score since 1980. With all selection decisions being under the control of a single organisation, selection in these populations was, in effect, compulsory, compared with the schemes in which selection is voluntary, being in the hands of individual breeders. As reported by Leighton et al. (2019), substantial favourable selection response was achieved: "Among first generation puppies, 34% of 273 German Shepherd Dogs, 55% of 323 Labrador Retrievers, and 43% of 51 Golden Retrievers had an Excellent hip extended score. After 8 generations of selection, mostly based on estimated breeding values derived from the hip extended score, over 93% of 695 German Shepherd Dogs, 94% of 528 Labrador Retrievers, and 87% of 116 Golden Retrievers received an Excellent hip extended score." Importantly, Leighton et al. (2019) reported that "In the latter generations of this study, hip improvement based on HES [hip-extended score] selection has practically reached an endpoint for all three breeds, that being Excellent hip phenotype. In the last generation class of each breed containing more than 100 dogs, 99% had HESC Excellent hips. When all dogs have nearly the same hip phenotype, almost no selection pressure can be applied to improve hip quality using the HES or HES EBVs." This result highlights the major limitation of the OFA and other similar scoring systems, which (in effect) divide a continuous variable into a small number of classes, thereby wasting lots of valuable information. If the OFA scoring system were to be changed to actually reflect the continuous underlying variable (as, in effect, the BVA/KC scoring system does), the problem highlighted by Leighton et al. (2019) would be avoided. The scheme run by the Fédération Cynologique Internationale (FCI) places dogs into one of five classes: A (Normal), B (Transitional), C (Light), D (Medium), E (Severe). See Flückiger (2007) and Verhoeven et al. (2012) for a summary of this scheme. Another major scoring scheme is PennHIP, developed by Dr Gail Smith while at the University of Pennsylvania School of Veterinary Medicine, and launched in 1993. As stated on its web site (http://info.antechimagingservices.com/pennhip/navigation/general/what-is-PennHIP.html), this scheme "consists of three separate radiographs: the distraction view, the compression view and the hip-extended view. The distraction view and compression view are used to obtain accurate and precise measurements of joint laxity and congruity. The hip-extended view is used to obtain supplementary information regarding the existence of osteoarthritis (OA) of the hip joint". The scheme uses a single continuous predictive parameter, namely the Distraction Index (DI), which is calculated from measurements taken on the worse (looser) of the two hips as viewed in the distraction radiograph (Smith et al., 1993, 1995). In other words, the actual PennHIP score is based on only half the available information (from just one hip rather than from both hips) from only one of three radiographs taken. This limitation of the PennHip scheme was reinforced in the review by Reagan (2017). In addition to exhibiting a disconcerting misunderstanding about the meaning of heritability, this review repeats the often-quoted claim that the heritability of DI is higher than the heritability of the OFA score, and that therefore response to selection under the PennHip scheme will be greater than selection under the OFA scheme. This claim is problematic on several counts. First, the range of DI heritabilities quoted by Reagan (2017) (0.61 to 0.83) omits an estimate of 0.50 reported by Todhunter et al. (2003); and the range of heritabilities quoted by Reagan (2017) for the OFA trait (0.22 to 0.76) is misleadingly incomplete: as mentioned in the inheritance section above, the range from the most comprehensive review of heritability estimates for OFA and comparable extended-hip traits is actually 0.00 to 0.93, with an average of around 0.35 (Janutta and Distl, 2006). And the range of extended-hip heritabilities from a recent large-scale analysis of OFA data by Oberbauer et al. (2017) is 0.46 to 0.75, with an average of 0.57. Furthermore, the range of DI heritabilities is actually based on only three published estimates of DI heritability, estimated from a total of only 3.078 dogs, whereas the 105 estimates for OFA and comparable traits reviewed by Janutta and Distl (2006) are based on 125,166 dogs; and the Oberbauer et al. (2017) range is for estimates from each of 60 breeds derived from a total of more than 1 million records (actually 1,056,852)! This comparison highlights the unfortunate reality that the exceedingly rich and valuable PennHip data set collected on presumably tens, if not hundreds, of thousands of dogs since 1993 has not yet been subjected to a published quantitative genetic analysis. It would be an immense service to the global dog breeding community if such a study were undertaken not just on the DI record from the worse hip, but on the DI of both hips and all the other invaluable data collected from all three PennHip radiographs. Second, even if the heritability of DI is higher in a particular breed, this does not automatically mean that selection on DI will be more effective, because response to selection is not determined solely by heritability. As if to highlight the unprecedented potential of the PennHIP data set for genetic analysis, Smith (2018) emphasised the existence of "a non-biased database of genetic information" as the first "essential element" of the PennHIP scheme. It is to be hoped that this exceedingly rich resource will soon be subjected to the genetic analysis it so richly deserves, which will so greatly inform all schemes for the control of canine hip dysplasia. A small step along this path was taken by Leighton et al. (2019) who estimated heritability of DI (presumably just one hip) from nearly 9,548 dogs bred within The Seeing Eye Inc. (TSE) population, to be 0.60, 0.66 and 0.59 for German Shepherd Dogs, Labrador Retrievers, and Golden Retrievers, respectively. Comparable estimates of heritability of an OFA-like hip-extended score were 0.76, 0.72, and 0.41, respectively. Similar types of estimates from the entire PennHIP data set (including all observations recorded on both hips in all three radiographs) are awaited with great interest. In a most unusual paper, Kim et al. (2022) reported using prime editing (PE) to replace an unfavourable allele with a favourable allele at an intergenic quantitative trait SNP locus that makes an unknown (but presumably very small) contribution to the genetic variation in liability to hip dysplasia (the QTL having been reported only in a patent application, with neither the breed nor the number of dogs being mentioned in the paper), and then using the genetically-modified fibroblasts to create two puppies with the favourable QTL allele by somatic cell nuclear transfer, concluding that this illustrates a "platform to correct genetic defects in dogs". Neither of the puppies was evaluated for hip dysplasia. Despite hip dysplasia being a classical quantitative trait, the study was claimed to be the first "that eliminate[s] the cause of HD by directly controlling the causative gene". [298]

Gen test: As noted in the Mapping section above, the results of Distl and Marschall (2007) were incorporated into a genotypic test for CHD patented by Distl and Marschall (EP 2 123 777 B1; filed in 2009). The test involves calculation of a "numerical breeding value" as the weighted sum of information from up to 17 polymorphic markers, to be used in predicting the CHD phenotype of individual dogs and predicting the average CHD phenotype of the progeny of particular matings. Noting that the markers used in this patented test appear never to have been validated in published papers, Manz et al. (2017) reported a validation test of the "numerical breeding value" as a predictor of individual phenotype, concluding that "the genetic test patented by Distl et al. (2009) is unsuitable for individual CHD risk assessment". It is important to note that Manz et al. (2017) did not assess the value of the patented test as a predictor of average CHD phenotype of the progeny of particular animals or particular matings. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: CHD (no structured Phene_Gene link) Evidence (references) - 1963. A new look at developmental subluxation and dislocation : Hip dysplasia in the dog. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1966. Canine hip dysplasia and how to control it. Orthopedic Foundation for Animals, Incorporated, and Hip Dysplasia Control Registry, Philadelphia — OMIA Phene_Article / Article - 1972. Canine hip dysplasia: relative risk by sex, size, and breed, and comparative aspects. J Am Vet Med Assoc — PubMed:PMID5010615 — OMIA Phene_Article / Article - 1979. The inheritance of canine hip dysplasia. Modern Veterinary Practice — PubMed:PMID514247 — OMIA Phene_Article / Article - 1973. Hip dysplasia in military dogs. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1975. Skeletal development of Greyhounds, German Shepherd dogs and their crossbreed offspring: an investigation with special reference to hip dysplasia. Acta Radiologica Supplementum — PubMed:PMID1066037 — OMIA Phene_Article / Article - 1975. Plasma levels of estradiol and plasma protein binding sex steriods in dogs. An investigation with special reference to development of hip dysplasia in growing individuals. Acta Radiologica Supplementum — PubMed:PMID1066030 — OMIA Phene_Article / Article - 1965. Hormone induced hip dysplasia in dogs. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1962. The control of canine hip dysplasia in the Scandinavian countries. Advanced Small Animal Practice — OMIA Phene_Article / Article - 1963. The radiographic diagnosis of hip dysplasia in the dog. Veterinary Record — OMIA Phene_Article / Article - 1980. German Shepherd dog hip survey. Veterinary Record — PubMed:PMID7467112 — OMIA Phene_Article / Article - 1965. [Hip dysplasia in dogs]. Nordisk Veterinaermedicin — OMIA Phene_Article / Article - (665 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:142669 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:142700 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:244510 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:265050 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:615612 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [298]

Dog (Canis lupus familiaris) — Cataract, generic (hereditary; OMIA-verified species predisposition)

Disorder: Cataract, generic [460]

Summary: Forms of inherited cataract for which the genetic causes have been identified have been been described, for examples see ' OMIA:001758-9615: Cataract, early onset, HSF4-related' and OMIA:002536-9615: Cataract, FYCO1-related Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1971. Juvenile cataracts in the Beagle dog. Journal of Small Animal Practice — PubMed:PMID5551929 — OMIA Phene_Article / Article - 1972. Cataracts in the Golden Retriever dog. Veterinary Medicine and Small Animal Clinician — PubMed:PMID4484576 — OMIA Phene_Article / Article - 1981. Cataract in the West Highland White terrier. Journal of Small Animal Practice — PubMed:PMID7289590 — OMIA Phene_Article / Article - 1972. Cataracts in interrelated Old English Sheepdogs. Journal of the American Veterinary Medical Association — PubMed:PMID5061880 — OMIA Phene_Article / Article - 1974. Cataract in Golden Retrievers. Journal of the American Veterinary Medical Association — PubMed:PMID4423543 — OMIA Phene_Article / Article - 1974. Congenital hereditary cataract in Cocker Spaniels. Journal of Small Animal Practice — PubMed:PMID4449208 — OMIA Phene_Article / Article - 1969. Hereditary cataracts in Miniature Schnauzers. Journal of the American Veterinary Medical Association — PubMed:PMID5392449 — OMIA Phene_Article / Article - 1936. Hereditary cataract in the dog. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 1979. Cataracts in Chesapeake Bay Retrievers. Journal of the American Veterinary Medical Association — PubMed:PMID511742 — OMIA Phene_Article / Article - 1972. Cataracts in Old English Sheepdogs. A preliminary report. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1972. Cataracts in Afghan Hounds. Journal of the American Veterinary Medical Association — PubMed:PMID5014602 — OMIA Phene_Article / Article - 1967. Probably nonhereditary congenital cataracts in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID6067611 — OMIA Phene_Article / Article - (62 additional references in OMIA) - 1971. Juvenile cataracts in the Beagle dog. Journal of Small Animal Practice — PubMed:PMID5551929 — OMIA Phene_Article / Article - 1972. Cataracts in the Golden Retriever dog. Veterinary Medicine and Small Animal Clinician — PubMed:PMID4484576 — OMIA Phene_Article / Article - 1981. Cataract in the West Highland White terrier. Journal of Small Animal Practice — PubMed:PMID7289590 — OMIA Phene_Article / Article - 1972. Cataracts in interrelated Old English Sheepdogs. Journal of the American Veterinary Medical Association — PubMed:PMID5061880 — OMIA Phene_Article / Article - 1974. Cataract in Golden Retrievers. Journal of the American Veterinary Medical Association — PubMed:PMID4423543 — OMIA Phene_Article / Article - 1974. Congenital hereditary cataract in Cocker Spaniels. Journal of Small Animal Practice — PubMed:PMID4449208 — OMIA Phene_Article / Article - 1969. Hereditary cataracts in Miniature Schnauzers. Journal of the American Veterinary Medical Association — PubMed:PMID5392449 — OMIA Phene_Article / Article - 1936. Hereditary cataract in the dog. Norsk Veterinaertidsskrift — OMIA Phene_Article / Article - 1979. Cataracts in Chesapeake Bay Retrievers. Journal of the American Veterinary Medical Association — PubMed:PMID511742 — OMIA Phene_Article / Article - 1972. Cataracts in Old English Sheepdogs. A preliminary report. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article - 1972. Cataracts in Afghan Hounds. Journal of the American Veterinary Medical Association — PubMed:PMID5014602 — OMIA Phene_Article / Article - 1967. Probably nonhereditary congenital cataracts in dogs. Journal of the American Veterinary Medical Association — PubMed:PMID6067611 — OMIA Phene_Article / Article - (62 additional references in OMIA) [460]

Dog (Canis lupus familiaris) — Chiari-like malformation (caudal occipital malformation syndrome) (hereditary; OMIA-verified species predisposition)

Disorder: Chiari-like malformation (caudal occipital malformation syndrome) [58]

Control: Knowler et al (2016) investigated the "feasibility of crossbreeding a brachycephalic CM affected GB [Griffon Bruxellois] with a mesaticephalic normal Australian terrier and then backcrossing to produce individuals free of the malformation and regain GB breed characteristics" and concluded "that by outcrossing breed types and with careful selection of appropriate conformation characteristics in the first generation, it is possible to regain the GB breed standard and reduce the degree of CM". Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: CM (no structured Phene_Gene link) Evidence (references) - 2000. Chiari 1/syringomyelia complex in a King Charles Spaniel. Aust Vet J — PubMed:PMID10736666 | DOI:10.1111/j.1751-0813.2000.tb10530.x — OMIA Phene_Article / Article - 2008. Chiari-like malformation and syringomyelia in normal cavalier King Charles spaniels: a multiple diagnostic imaging approach. J Small Anim Pract — PubMed:PMID18631225 | DOI:10.1111/j.1748-5827.2008.00578.x — OMIA Phene_Article / Article - 2007. Report from the Chiari-Like Malformation and Syringomyelia Working Group round table. Vet Surg — PubMed:PMID17614933 | DOI:10.1111/j.1532-950X.2007.00298.x — OMIA Phene_Article / Article - 2007. Chiari-like malformation with syringomyelia in the Cavalier King Charles spaniel: long-term outcome after surgical management. Vet Surg — PubMed:PMID17614920 | DOI:10.1111/j.1532-950X.2007.00285.x — OMIA Phene_Article / Article - 2006. Application of ventriculoperitoneal shunt as a treatment for hydrocephalus in a dog with syringomyelia and Chiari I malformation. J Vet Sci — PubMed:PMID16645349 | DOI:10.4142/jvs.2006.7.2.203 — OMIA Phene_Article / Article - 2009. Syringomyelia in three small breed dogs secondary to Chiari-like malformation: clinical and diagnostic findings. J Vet Sci — PubMed:PMID19934606 | DOI:10.4142/jvs.2009.10.4.365 — OMIA Phene_Article / Article - 2009. [Chiari-like malformation--syringomyelia in the Cavalier King Charles Spaniel]. Tijdschr Diergeneeskd — PubMed:PMID19911737 — OMIA Phene_Article / Article - 2009. Does size matter? The continuing riddle of Chiari and syringomyelia. J Small Anim Pract — PubMed:PMID19689664 | DOI:10.1111/j.1748-5827.2009.00804.x — OMIA Phene_Article / Article - 2012. Questionnaire-based behaviour analysis of Cavalier King Charles spaniels with neuropathic pain due to Chiari-like malformation and syringomyelia. Vet J — PubMed:PMID22738740 | DOI:10.1016/j.tvjl.2012.05.018 — OMIA Phene_Article / Article - 2013. Assessment of cerebellar pulsation in dogs with and without Chiari-like malformation and syringomyelia using cardiac-gated cine magnetic resonance imaging. Vet J — PubMed:PMID23770398 | DOI:10.1016/j.tvjl.2013.05.017 — OMIA Phene_Article / Article - 2012. Changes over time in craniocerebral morphology and syringomyelia in cavalier King Charles spaniels with Chiari-like malformation. BMC Vet Res — PubMed:PMID23136935 | DOI:10.1186/1746-6148-8-215 — OMIA Phene_Article / Article - 2012. Long-term outcome of Cavalier King Charles spaniel dogs with clinical signs associated with Chiari-like malformation and syringomyelia. Vet Rec — PubMed:PMID23100307 | DOI:10.1136/vr.100449 — OMIA Phene_Article / Article - (46 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:118420 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [58]

Dog (Canis lupus familiaris) — Cone degeneration (hereditary; OMIA-verified species predisposition)

Disorder: Cone degeneration [461]

Summary: Previously listed under OMIA:000881-9615: Rod-cone dysplasia [07/06/2023] Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA entry symbol: cd (no structured Phene_Gene link) Evidence (references) - 1998. Canine cone transducin-gamma gene and cone degeneration in the cd dog. Invest Ophthalmol Vis Sci — PubMed:PMID9727399 — OMIA Phene_Article / Article [461]

Dog (Canis lupus familiaris) — Cystinuria (hereditary; OMIA-verified species predisposition)

Disorder: Cystinuria [462]

Summary: See also OMIA:001033-9615: Urolithiasis in Canis lupus familiaris (dog), OMIA:000256-9615: Cystinuria, type I - A in Canis lupus familiaris (dog), OMIA:001879-9615: Cystinuria, type II - A in Canis lupus familiaris (dog), OMIA:001880-9615: Cystinuria, type II - B in Canis lupus familiaris (dog), OMIA:001881-9615: Cystinuria, type III in Canis lupus familiaris (dog) Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1994. Prevalence of cystine and urate uroliths in Bulldogs and urate uroliths in Dalmatians. Journal of the American Veterinary Medical Association — PubMed:PMID8077134 — OMIA Phene_Article / Article - 1995. Hepatocyte transplantation in biodegradable polymer scaffolds using the Dalmatian dog model of hyperuricosuria. Transplant Proc — PubMed:PMID7879127 — OMIA Phene_Article / Article - 2023. A retrospective study on epidemiology and management of canine cystine uroliths in one part of Norway from 2015 to 2020. Acta Vet Scand — PubMed:PMID37964384 | DOI:10.1186/s13028-023-00711-z — OMIA Phene_Article / Article - 1994. Prevalence of cystine and urate uroliths in Bulldogs and urate uroliths in Dalmatians. Journal of the American Veterinary Medical Association — PubMed:PMID8077134 — OMIA Phene_Article / Article - 1995. Hepatocyte transplantation in biodegradable polymer scaffolds using the Dalmatian dog model of hyperuricosuria. Transplant Proc — PubMed:PMID7879127 — OMIA Phene_Article / Article - 2023. A retrospective study on epidemiology and management of canine cystine uroliths in one part of Norway from 2015 to 2020. Acta Vet Scand — PubMed:PMID37964384 | DOI:10.1186/s13028-023-00711-z — OMIA Phene_Article / Article [462]

Dog (Canis lupus familiaris) — Diabetes mellitus (hereditary; OMIA-verified species predisposition)

Disorder: Diabetes mellitus [463]

Mode of inheritance: In a textbook example of investigating the heritability and mode of inheritance of a disorder, Cai et al. (2019) estimated heritability of diabetes mellitus (DM) in American Eskimo Dogs (AED) to be 0.62 (95% posterior interval 0.01-0.99) and the mode of inheritance to be "polygenic, with no evidence for a single gene of large effect." The low precision of the heritability estimate is due to the relatively small numbers of animals available, namely "71 AED without DM, 47 AED with an unknown phenotype, and 38 AED with spontaneous DM". [463]

Control: As concluded by Cai et al. (2019), "Breeders could successfully implement a breeding program to decrease the incidence of DM in AED." Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1960. The interrelationship between diabetes mellitus, obesity and pyometra in the dog. American Journal of Veterinary Research VL — OMIA Phene_Article / Article - 1989. Diabetes Mellitus in the Dog and Cat. Companion Animal Practice — OMIA Phene_Article / Article - 1988. Inheritance of diabetes mellitus in Keeshond dogs. American Journal of Veterinary Research — PubMed:PMID3358555 — OMIA Phene_Article / Article - 1990. Concurrent Diabetes Mellitus and Hyperadrenocorticism in the Dog - Diagnosis and Management of 8 Cases. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1993. Insulin Resistance in 3 Dogs with Hypothyroidism and Diabetes mellitus. Journal of the American Veterinary Medical Association — PubMed:PMID8496104 — OMIA Phene_Article / Article - 1993. Plasma Cholesterol and Lipoprotein Concentrations in the Dog - The Effects of Age, Breed, Gender and Endocrine Disease. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Hepatic Abscesses Associated with Diabetes Mellitus in 2 Dogs. Journal of Veterinary Internal Medicine — PubMed:PMID8064655 — OMIA Phene_Article / Article - 1994. Serum fructosamine as a screening test for diabetes mellitus in non-healthy middle-aged to older dogs. Journal of Veterinary Medicine Series A - Zentralblatt Fur Veterinarmedizin Reihe A - Physiology Pathology Clinical Medicine — OMIA Phene_Article / Article - 1995. Diagnosis of diabetes mellitus in dogs and cats - Contrasts and comparisons. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1995. Long-term complications of diabetes mellitus .1. Retinopathy, nephropathy, neuropathy. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1995. Ocular manifestations of diabetes mellitus: Diabetic cataracts in dogs. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1995. Pathophysiology of canine diabetes. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - (97 additional references in OMIA) - 1960. The interrelationship between diabetes mellitus, obesity and pyometra in the dog. American Journal of Veterinary Research VL — OMIA Phene_Article / Article - 1989. Diabetes Mellitus in the Dog and Cat. Companion Animal Practice — OMIA Phene_Article / Article - 1988. Inheritance of diabetes mellitus in Keeshond dogs. American Journal of Veterinary Research — PubMed:PMID3358555 — OMIA Phene_Article / Article - 1990. Concurrent Diabetes Mellitus and Hyperadrenocorticism in the Dog - Diagnosis and Management of 8 Cases. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1993. Insulin Resistance in 3 Dogs with Hypothyroidism and Diabetes mellitus. Journal of the American Veterinary Medical Association — PubMed:PMID8496104 — OMIA Phene_Article / Article - 1993. Plasma Cholesterol and Lipoprotein Concentrations in the Dog - The Effects of Age, Breed, Gender and Endocrine Disease. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Hepatic Abscesses Associated with Diabetes Mellitus in 2 Dogs. Journal of Veterinary Internal Medicine — PubMed:PMID8064655 — OMIA Phene_Article / Article - 1994. Serum fructosamine as a screening test for diabetes mellitus in non-healthy middle-aged to older dogs. Journal of Veterinary Medicine Series A - Zentralblatt Fur Veterinarmedizin Reihe A - Physiology Pathology Clinical Medicine — OMIA Phene_Article / Article - 1995. Diagnosis of diabetes mellitus in dogs and cats - Contrasts and comparisons. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1995. Long-term complications of diabetes mellitus .1. Retinopathy, nephropathy, neuropathy. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1995. Ocular manifestations of diabetes mellitus: Diabetic cataracts in dogs. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - 1995. Pathophysiology of canine diabetes. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article - (97 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:125850 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:125851 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:125852 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:125853 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:176730 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:520000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:125850 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:125851 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:125852 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:125853 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:176730 (type: gene) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222100 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:222300 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:520000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [463]

Dog (Canis lupus familiaris) — Early onset adult deafness (hereditary; OMIA-verified species predisposition)

Mode of inheritance: Kawakami et al. (2022) reported that "A segregation pattern of this deletion in a 2-generation nuclear family indicated an autosomal recessive mode of inheritance." [419]

Clin feat: Kawakami et al. (2022): "Rhodesian Ridgebacks exhibit a progressive postnatal deafness which may be observed as early as four months of age but more commonly observed within 1–2 years after birth.... This form of deafness, hereafter referred to as early onset adult deafness (EOAD), does not appear to be restricted to a specific bloodline because it has been identified in multiple Rhodesian Ridgeback populations, including North America, Europe, and Africa.... All affected dogs are visually indistinguishable from dogs with normal hearing by having fully pigmented coat, eyes, and noses, indicating that EOAD in Rhodesian Ridgebacks likely has a different genetic basis from pigmentation-related deafness." In their 2022 study, Kawakami et al. "identified 23 EOAD-affected Rhodesian Ridgebacks (11 males and 12 females) that were confirmed deaf by BAER testing; these dogs lost their hearing approximately from 6 months to 24 months after birth. All of the dogs were bilaterally deaf." Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 389509222 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Using "targeted Sanger sequencing analysis" of the CFA18 candidate region, Kawakami et al. (2022) "identified a 12-bp inframe deletion in EPS8L2 (CFA18:25,868,739-25,868,751 in the UMICH_Zoey_3.1/canFam5 reference genome build). Additional genotyping confirmed a strong association between the 12-bp deletion and EOAD, where all affected dogs were homozygous for the deletion, while none of the contr… Evidence (references) - 2012. Canine deafness. Vet Clin North Am Small Anim Pract — PubMed:PMID23122177 | DOI:10.1016/j.cvsm.2012.08.010 — OMIA Phene_Article / Article - 2015. The genetics of deafness in domestic animals. Front Vet Sci — PubMed:PMID26664958 | DOI:10.3389/fvets.2015.00029 — OMIA Phene_Article / Article - 2022. Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene. PLoS One — PubMed:PMID35385474 | DOI:10.1371/journal.pone.0264365 — OMIA Phene_Article / Article - 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:617637 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:614988 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [419]

Dog (Canis lupus familiaris) — Ectropion (hereditary; OMIA-verified species predisposition)

Disorder: Ectropion [464]

Dog (Canis lupus familiaris) — Elbow dysplasia (hereditary; OMIA-verified species predisposition)

Disorder: Elbow dysplasia [465]

Mode of inheritance: Baers et al. (2019) conducted a quantitative genetic analysis of "elbow data from 130,117 dogs over 2 years old representing 17 breeds... obtained from the database of the Orthopedic Foundation for Animals". They reported "Heritability estimates for unilateral elbow dysplasia varied between breeds (ranging from 0.01 to 0.36) and were similar between the left and right elbows. The estimated genetic correlation between disease in the left and right elbow ~1 in the majority of breeds". [465]

Control: A large-scale analysis of "data from dogs of six breeds [Labrador Retriever, Golden Retriever, German Shepherd Dog, Rottweiler, Bernese Mountain Dog), and Newfoundland] scored [in the BVA/KC Hip and Elbow Dysplasia grading schemes] from 1990 to present" by James et al. (2020) "demonstrated evidence of improving genetic trends with respect to hip score and elbow grade in [the above] six UK registered breeds in line with phenotypic improvements and participation in screening schemes." Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1966. Elbow dysplasia in the dog. Journal of the American Veterinary Medical Association — PubMed:PMID5950881 — OMIA Phene_Article / Article - 1993. Hip Dysplasia and Elbow Disease in Sight of the Federation- Cynologique-Internationale .1. Kleintierpraxis — OMIA Phene_Article / Article - 1993. Elbow Dysplasia in the Bernese Mountain Dog. Tijdschrift Voor Diergeneeskunde — OMIA Phene_Article / Article - 1994. WSAVA Kennel Clubs Meeting - Control of Hereditary Elbow Disease in Pedigree Dogs. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Elbow Dysplasia in the Dog. Tijdschrift Voor Diergeneeskunde — PubMed:PMID8091411 — OMIA Phene_Article / Article - 1996. Correction of an elbow dysplasia by ulnaostectomy and an external fixator with threaded connecting bars in a dog [German]. Wiener Tierarztliche Monatsschrift — OMIA Phene_Article / Article - 1996. Relationship between physical signs of elbow dysplasia and radiographic score in growing rottweilers. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1996. Veterinary research at a clinical laboratory - diagnosis and treatment of joint diseases in the dog - past and present [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1997. Correlation of radiographic, necropsy and histologic findings in 8 dogs with elbow dysplasia. Veterinary Radiology & Ultrasound — PubMed:PMID9262682 — OMIA Phene_Article / Article - 1997. Comparison of radiography, magnetic resonance imaging, and surgical findings in dogs with elbow dysplasia. American Journal of Veterinary Research — PubMed:PMID9401682 — OMIA Phene_Article / Article - 1998. Getting to grips with elbow dysplasia. Veterinary Record — OMIA Phene_Article / Article - 1998. Elbow scoring in dogs. Veterinary Record — OMIA Phene_Article / Article - (86 additional references in OMIA) - 1966. Elbow dysplasia in the dog. Journal of the American Veterinary Medical Association — PubMed:PMID5950881 — OMIA Phene_Article / Article - 1993. Hip Dysplasia and Elbow Disease in Sight of the Federation- Cynologique-Internationale .1. Kleintierpraxis — OMIA Phene_Article / Article - 1993. Elbow Dysplasia in the Bernese Mountain Dog. Tijdschrift Voor Diergeneeskunde — OMIA Phene_Article / Article - 1994. WSAVA Kennel Clubs Meeting - Control of Hereditary Elbow Disease in Pedigree Dogs. Journal of Small Animal Practice — OMIA Phene_Article / Article - 1994. Elbow Dysplasia in the Dog. Tijdschrift Voor Diergeneeskunde — PubMed:PMID8091411 — OMIA Phene_Article / Article - 1996. Correction of an elbow dysplasia by ulnaostectomy and an external fixator with threaded connecting bars in a dog [German]. Wiener Tierarztliche Monatsschrift — OMIA Phene_Article / Article - 1996. Relationship between physical signs of elbow dysplasia and radiographic score in growing rottweilers. Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article - 1996. Veterinary research at a clinical laboratory - diagnosis and treatment of joint diseases in the dog - past and present [Dutch]. Vlaams Diergeneeskundig Tijdschrift — OMIA Phene_Article / Article - 1997. Correlation of radiographic, necropsy and histologic findings in 8 dogs with elbow dysplasia. Veterinary Radiology & Ultrasound — PubMed:PMID9262682 — OMIA Phene_Article / Article - 1997. Comparison of radiography, magnetic resonance imaging, and surgical findings in dogs with elbow dysplasia. American Journal of Veterinary Research — PubMed:PMID9401682 — OMIA Phene_Article / Article - 1998. Getting to grips with elbow dysplasia. Veterinary Record — OMIA Phene_Article / Article - 1998. Elbow scoring in dogs. Veterinary Record — OMIA Phene_Article / Article - (86 additional references in OMIA) [465]

Dog (Canis lupus familiaris) — Entropion (hereditary; OMIA-verified species predisposition)

Disorder: Entropion [101]

Dog (Canis lupus familiaris) — Exercise-induced collapse (hereditary; OMIA-verified species predisposition)

Disorder: Exercise-induced collapse [175]

Mode of inheritance: Exercise-induced callapse in Labrador retrievers is a Mendelian trait. Norton et al. (2021) concluded that the disease in border collies (BCC) is a moderately- to highly-heritable complex polygenetic disease. [175]

Dog (Canis lupus familiaris) — Familial stomatocytosis hypertrophic gastritis (hereditary; OMIA-verified species predisposition)

Disorder: Familial stomatocytosis hypertrophic gastritis [466]

Clin feat: Slappendel et al. (1991): "The main clinical problems were diarrhoea, icterus, and ataxia and paresis of the pelvic limbs. Laboratory evaluation revealed abnormal red cell shape (stomatocytosis), increased osmotic fragility, haemolytic anaemia, and increased liver enzymes and serum bilirubin. Gastroscopic and histopathologic examination of the gastric mucosa revealed hypertrophic gastritis resembling Ménétrier's disease in man.. Electroneurography in 2 dogs revealed polyneuropathy." [466]

Pathology: Slappendel et al. (1991): "Histologic findings in the liver were suggestive of progressive liver disease. Cysts were found in the kidneys of the five oldest patients." Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1991. Familial stomatocytosis--hypertrophic gastritis (FSHG), a newly recognised disease in the dog (Drentse patrijshond). Vet Q — PubMed:PMID2021052 | DOI:10.1080/01652176.1991.9694282 — OMIA Phene_Article / Article - 1994. Normal cations and abnormal membrane lipids in the red blood cells of dogs with familial stomatocytosis-hypertrophic gastritis. Blood — PubMed:PMID8043871 — OMIA Phene_Article / Article - 1991. Familial stomatocytosis--hypertrophic gastritis (FSHG), a newly recognised disease in the dog (Drentse patrijshond). Vet Q — PubMed:PMID2021052 | DOI:10.1080/01652176.1991.9694282 — OMIA Phene_Article / Article - 1994. Normal cations and abnormal membrane lipids in the red blood cells of dogs with familial stomatocytosis-hypertrophic gastritis. Blood — PubMed:PMID8043871 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:185000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:194380 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:185020 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:185000 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:194380 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:185020 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [466]

Dog (Canis lupus familiaris) — Fanconi syndrome (hereditary; OMIA-verified species predisposition)

Disorder: Fanconi syndrome [179]

Dog (Canis lupus familiaris) — Fragmented coronoid process (hereditary; OMIA-verified species predisposition)

Disorder: Fragmented coronoid process [467]

Summary: see also 'OMIA 001863-9615: Medial coronoid disease in Canis lupus familiaris' Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Evidence (references) - 1995. The inheritance of osteochondritis dissecans and fragmented coronoid process of the elbow joint in Labrador retrievers. J Am Anim Hosp Assoc — PubMed:PMID7552666 | DOI:10.5326/15473317-31-4-327 — OMIA Phene_Article / Article - 1995. A comparison of surgical and medical treatment of fragmented coronoid process and osteochondritis dissecans of the canine elbow. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1998. Risk estimates for dichotomous genetic disease traits based on a cohort study of relatedness in purebred dog populations. Veterinary Record — PubMed:PMID9571755 — OMIA Phene_Article / Article - 1999. Familial clustering and risk analysis for fragmented coronoid process and elbow joint incongruity in Bernese Mountain Dogs in the Netherlands. American Journal of Veterinary Research — PubMed:PMID10490075 — OMIA Phene_Article / Article - 2002. Prevalence of fragmented medial coronoid process of the ulna in lame adult dogs. Veterinary Record — PubMed:PMID12219900 — OMIA Phene_Article / Article - 2002. Breed susceptibility for developmental orthopedic diseases in dogs. J Am Anim Hosp Assoc — PubMed:PMID12220032 | DOI:10.5326/0380467 — OMIA Phene_Article / Article - 2010. [Multivariate genetic analysis of canine hip and elbow dysplasia as well as humeral osteochondrosis in the Bernese mountain dog]. Berl Munch Tierarztl Wochenschr — PubMed:PMID21141279 — OMIA Phene_Article / Article - 2010. Comparison of bone mineral density in medial coronoid processes of dogs with and without medial coronoid process fragmentation. Am J Vet Res — PubMed:PMID20043779 | DOI:10.2460/ajvr.71.1.41 — OMIA Phene_Article / Article - 2010. Fragmented coronoid process in the dog: a heritable disease. Vet J — PubMed:PMID19640749 | DOI:10.1016/j.tvjl.2009.06.022 — OMIA Phene_Article / Article - 2009. Traumatic fragmented medial coronoid process in a Chihuahua. Vet Comp Orthop Traumatol — PubMed:PMID19597637 | DOI:10.3415/VCOT-08-10-0102 — OMIA Phene_Article / Article - 2009. Can owners and clinicians assess outcome in dogs with fragmented medial coronoid process?. Vet Comp Orthop Traumatol — PubMed:PMID19448876 | DOI:10.3415/VCOT-08-08-0074 — OMIA Phene_Article / Article - 2009. Spectrum of computed tomographic findings in 58 canine elbows with fragmentation of the medial coronoid process. J Small Anim Pract — PubMed:PMID19037890 | DOI:10.1111/j.1748-5827.2008.00656.x — OMIA Phene_Article / Article - (11 additional references in OMIA) - 1995. The inheritance of osteochondritis dissecans and fragmented coronoid process of the elbow joint in Labrador retrievers. J Am Anim Hosp Assoc — PubMed:PMID7552666 | DOI:10.5326/15473317-31-4-327 — OMIA Phene_Article / Article - 1995. A comparison of surgical and medical treatment of fragmented coronoid process and osteochondritis dissecans of the canine elbow. Veterinary & Comparative Orthopaedics & Traumatology — OMIA Phene_Article / Article - 1998. Risk estimates for dichotomous genetic disease traits based on a cohort study of relatedness in purebred dog populations. Veterinary Record — PubMed:PMID9571755 — OMIA Phene_Article / Article - 1999. Familial clustering and risk analysis for fragmented coronoid process and elbow joint incongruity in Bernese Mountain Dogs in the Netherlands. American Journal of Veterinary Research — PubMed:PMID10490075 — OMIA Phene_Article / Article - 2002. Prevalence of fragmented medial coronoid process of the ulna in lame adult dogs. Veterinary Record — PubMed:PMID12219900 — OMIA Phene_Article / Article - 2002. Breed susceptibility for developmental orthopedic diseases in dogs. J Am Anim Hosp Assoc — PubMed:PMID12220032 | DOI:10.5326/0380467 — OMIA Phene_Article / Article - 2010. [Multivariate genetic analysis of canine hip and elbow dysplasia as well as humeral osteochondrosis in the Bernese mountain dog]. Berl Munch Tierarztl Wochenschr — PubMed:PMID21141279 — OMIA Phene_Article / Article - 2010. Comparison of bone mineral density in medial coronoid processes of dogs with and without medial coronoid process fragmentation. Am J Vet Res — PubMed:PMID20043779 | DOI:10.2460/ajvr.71.1.41 — OMIA Phene_Article / Article - 2010. Fragmented coronoid process in the dog: a heritable disease. Vet J — PubMed:PMID19640749 | DOI:10.1016/j.tvjl.2009.06.022 — OMIA Phene_Article / Article - 2009. Traumatic fragmented medial coronoid process in a Chihuahua. Vet Comp Orthop Traumatol — PubMed:PMID19597637 | DOI:10.3415/VCOT-08-10-0102 — OMIA Phene_Article / Article - 2009. Can owners and clinicians assess outcome in dogs with fragmented medial coronoid process?. Vet Comp Orthop Traumatol — PubMed:PMID19448876 | DOI:10.3415/VCOT-08-08-0074 — OMIA Phene_Article / Article - 2009. Spectrum of computed tomographic findings in 58 canine elbows with fragmentation of the medial coronoid process. J Small Anim Pract — PubMed:PMID19037890 | DOI:10.1111/j.1748-5827.2008.00656.x — OMIA Phene_Article / Article - (11 additional references in OMIA) [467]

Dog (Canis lupus familiaris) — GIST (hereditary; OMIA-verified species predisposition)

Disorder: GIST [468]

Summary: IT IS IMPORTANT TO NOTE THAT THESE ARE UNDERSTOOD TO BE A SOMATIC MUTATIONS, WHICH MEANS THAT THE VARIANTS ARE NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING. Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: c-KIT (Entrez Gene ID 403811) — OMIA Phene_Gene / GeneSynonym Evidence (references) - 2010. Canine and human gastrointestinal stromal tumors display similar mutations in c-KIT exon 11. BMC Cancer — PubMed:PMID20950418 | DOI:10.1186/1471-2407-10-559 — OMIA Phene_Article / Article - 2016. Analysis of c-KIT exon 11 mutations in canine gastrointestinal stromal tumours. Vet J — PubMed:PMID26631948 | DOI:10.1016/j.tvjl.2015.10.051 — OMIA Phene_Article / Article - 2022. Gastrointestinal stromal tumor (GIST) presenting as a multilocular cystic intra-abdominal mass in a dog. BMC Vet Res — PubMed:PMID36435800 | DOI:10.1186/s12917-022-03504-0 — OMIA Phene_Article / Article - 2023. CT features of gastrointestinal spindle cell, epithelial, and round cell tumors in 41 dogs. Vet Radiol Ultrasound — PubMed:PMID36382620 | DOI:10.1111/vru.13188 — OMIA Phene_Article / Article - 2023. Canine gastrointestinal stromal tumours treated with surgery and imatinib mesylate: three cases (2018-2020). J Small Anim Pract — PubMed:PMID36335646 | DOI:10.1111/jsap.13572 — OMIA Phene_Article / Article - 2025. A canine c-kit novel mutation isolated from a gastrointestinal stromal tumor (GIST) retains the ability to form dimers but lacks autophosphorylation. Animals (Basel) — PubMed:PMID40427321 | DOI:10.3390/ani15101444 — OMIA Phene_Article / Article Comparative medicine (human OMIM) - OMIM:606764 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:164920 (type: gene) — OMIA Group_OMIM (via OMIA_ID) [468]

Dog (Canis lupus familiaris) — Generalized PRA (gPRA), early‑onset progressive retinal atrophy (hereditary; OMIA-verified species predisposition)

Clin feat: Lippman et al. (2007): "gPRA in Schapendoes is characterized by late onset and slow progression.. Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years." Murgiano et al. (2020) describe the clinical signs in Portugese water dogs: ".visual deficits, including difficulty following moving objects and walking into still objects, which were reportedly worse under dim light, consistent with nyctalopia. These signs became progressively worse, compromising the animals’ vision under both dim and well-lit conditions. The age of onset was determined by the time point at which the visual deficits became noticeable to the owners or when ophthalmoscopic abnormalities were first noted. The male proband and the two affected females had decreased vision per the owner at initial presentation and were diagnosed ophthalmoscopically as EOPRA with an age of onset at 2 years. A second male dog had no obvious visual deficit per the owner at initial presentation at age 2 years and had unremarkable fundus when examined ophthalmoscopically. However, peripapillar changes suggestive of PRA developed by 3 years of age at which time electroretinography (ERG) was recommended but declined. This dog was re-examined at 6 years of age when visual impairment was evident, ERGs were undetectable., and ophthalmoscopic changes were consistent with mid-stage disease. The ophthalmoscopic changes observed were common in all affected dogs, characterized by generalized tapetal hyper-reflectivity, diffuse vascular attenuation, optic disc pallor, and multifocal depigmenta-tion of the non-tapetal fundus.. A feature that was unique to this disease in all affected dogs was a distinct peripapillary ring of hyper-reflectivity or peripapillary conus., which progressed into a broader zone of hyper-reflectivity around the optic disc in advanced disease.." [415]

Pathology: Lippman et al. (2007): "Compared to a normal retina., the gPRA-affected eyes of a five year old Schapendoes displayed typical degeneration signs in peripheral and central areas.. The outer retina with the photoreceptor layer and the outer nuclear layer was missing in all retinal parts investigated. The inner retina showed reduced inner nuclear and inner plexiform layers, whereas the ganglion cell layer appeared comparatively preserved." Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - Gene: Entrez Gene ID 26582962 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene - OMIA molecular-genetics note: Dekomien et al. (2010): "Mutation screening of the CCDC66 gene revealed a 1-bp insertion in exon 6 leading to a stop codon as the underlying cause of disease" for generalized progressive retinal atrophy on in the Schapendoes breed. Murgiano et al. (2020): "Whole‑genome sequencing in one affected [Portugese water] dog and its obligatory carrier parents identified a 1 bp insertion (CFA20:g.33,717,70… Evidence (references) - 2010. Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics — PubMed:PMID19777273 | DOI:10.1007/s10048-009-0223-z — OMIA Phene_Article / Article - 2007. Haplotype-defined linkage region for gPRA in Schapendoes dogs. Mol Vis — PubMed:PMID17327822 — OMIA Phene_Article / Article - 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article - 2020. CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Sci Rep — PubMed:PMID33273526 | DOI:10.1038/s41598-020-77980-5 — OMIA Phene_Article / Article - 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article - 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article - 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article [415]

Dog (Canis lupus familiaris) — Glaucoma, generic (hereditary; OMIA-verified species predisposition)

Disorder: Glaucoma, generic [469]

Dog (Canis lupus familiaris) — Glaucoma, primary closed-angle (hereditary; OMIA-verified species predisposition)

Disorder: Glaucoma, primary closed-angle [82]

Dog (Canis lupus familiaris) — Glaucoma, primary open angle (hereditary; OMIA-verified species predisposition)

Disorder: Glaucoma, primary open angle [83]

Dog (Canis lupus familiaris) — Glioma, predisposition to (hereditary; OMIA-verified species predisposition)

Disorder: Glioma, predisposition to [470]

Summary: Truvé et al. (2016): "Gliomas are the most common form of malignant primary brain tumors in humans and second most common in dogs, occurring with similar frequencies in both species. Dogs are valuable spontaneous models of human complex diseases including cancers and may provide insight into disease susceptibility and oncogenesis. Several brachycephalic breeds such as Boxer, Bulldog and Boston Terrier have an elevated risk of developing glioma, but others, including Pug and Pekingese, are not at higher risk." Derived from OMIA database dump (omia.xml, local); structured fields — each value is verbatim from the disorder's source file pdf-raw/omia/<phene_id>.txt: Associated gene(s) - OMIA molecular-genetics note: Truvé et al. (2016) "identified three candidate genes that were highly associated with glioma susceptibility: CAMKK2, P2RX7 and DENR. CAMKK2 showed reduced expression in both canine and human brain tumors, and a non-synonymous variant in P2RX7, previously demonstrated to have a 50% decrease in receptor function, was also associated with disease. Thus, one or more of these genes appear to affect gl… Evidence (references) - 2006. Canine intracranial primary neoplasia: 173 cases (1986-2003). J Vet Intern Med — PubMed:PMID16734106 | DOI:10.1892/0891-6640(2006)20[669:cipnc]2.0.co;2 — OMIA Phene_Article / Article - 2016. Spontaneously arising canine glioma as a potential model for human glioma. J Comp Pathol — PubMed:PMID26804204 | DOI:10.1016/j.jcpa.2015.12.001 — OMIA Phene_Article / Article - 2010. Canine spontaneous glioma: a translational model system for convection-enhanced delivery. Neuro Oncol — PubMed:PMID20488958 | DOI:10.1093/neuonc/noq046 — OMIA Phene_Article / Article - 2010. IDH1 and IDH2 hotspot mutations are not found in canine glioma. Int J Cancer — PubMed:PMID19877121 | DOI:10.1002/ijc.25017 — OMIA Phene_Article / Article - 2000. Characterization of a canine glioma cell line as related to established experimental brain tumor models. J Neuropathol Exp Neurol — PubMed:PMID10901232 | DOI:10.1093/jnen/59.7.607 — OMIA Phene_Article / Article - 1995. What is your neurologic diagnosis? Cerebral glioma in a dog. J Am Vet Med Assoc — PubMed:PMID7744659 — OMIA Phene_Article / Article - 1988. Comparison of CT and MRI brain tumor imaging using a canine glioma model. Pediatr Neurol — PubMed:PMID3242530 | DOI:10.1016/0887-8994(88)90066-5 — OMIA Phene_Article / Article - 1987. Magnetic resonance brain tumor imaging in canine glioma. Neurology — PubMed:PMID3601090 | DOI:10.1212/wnl.37.7.1235 — OMIA Phene_Article / Article - 1974. Malignant glioma of the spinal cord in a dog. J Small Anim Pract — PubMed:PMID4449211 | DOI:10.1111/j.1748-5827.1974.tb05663.x — OMIA Phene_Article / Article - 1961. Glioma of the optic nerve of a dog. A case report. J Am Vet Med Assoc — PubMed:PMID13785456 — OMIA Phene_Article / Article - 2003. Glioblastoma multiforme: clinical findings, magnetic resonance imaging, and pathology in five dogs. Vet Pathol — PubMed:PMID14608019 | DOI:10.1354/vp.40-6-659 — OMIA Phene_Article / Article - 2013. Postmortem evaluation of 435 cases of intracranial neoplasia in dogs and relationship of neoplasm with breed, age, and body weight. J Vet Intern Med — PubMed:PMID23865437 | DOI:10.1111/jvim.12136 — OMIA Phene_Article / Article - (18 additional references in OMIA) Comparative medicine (human OMIM) - OMIM:137800 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613028 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613029 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:607248 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613030 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613031 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613032 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:613033 (type: trait) — OMIA Group_OMIM (via OMIA_ID) - OMIM:616568 (type: trait) — OMIA Group_OMIM (via OMIA_ID) [470]