Pembroke Welsh Corgi — Narcolepsy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_pembroke_welsh_corgi_omia1311_dog category: companion-breed-health title: "Pembroke Welsh Corgi — Narcolepsy (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/pembroke_welsh_corgi_omia1311_1311.txt date_parsed: 2026-08-02 tokens_estimated: 574 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_pembroke_welsh_corgi_omia1311_dog/01_companion_breed_health_pembroke_welsh_corgi_omia1311_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Pembroke Welsh Corgi — Narcolepsy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000703/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Pembroke Welsh Corgi — Narcolepsy (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Pembroke Welsh Corgi (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Summary: Narcolepsy is a sleep disorder characterized by shortened sleep latency and cataplexy. Genetic tests are available to detect the causative mutations in HCRTR2.
• 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).
• Defect: yes
• 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).
• Control: Relatives of affected dogs should be tested. Breeding of affected dogs or carriers is not recommended.
• Gen test: There are tests available to detect the causative mutations in the dachshunds, Labrador retriever, and Doberman pinscher.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 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)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 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)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:161400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:602393 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."