Poodle, Miniature — Osteochondrodysplasia; pseudoachondroplastic dysplasia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_poodle_miniature_osteochondrodysplasia_pseudoachondroplastic_dysplasia_dog category: companion-breed-health title: "Poodle, Miniature — Osteochondrodysplasia; pseudoachondroplastic dysplasia (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/poodle_miniature_osteochondrodysplasia_pseudoachondroplastic_dysplasia_4732.txt date_parsed: 2026-08-02 tokens_estimated: 364 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_poodle_miniature_osteochondrodysplasia_pseudoachondroplastic_dysplasia_dog/01_companion_breed_health_poodle_miniature_osteochondrodysplasia_pseudoachondroplastic_dysplasia_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: "Poodle, Miniature — Osteochondrodysplasia; pseudoachondroplastic dysplasia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001400/9615/" 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

Poodle, Miniature — Osteochondrodysplasia; pseudoachondroplastic dysplasia (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: Poodle, Miniature (Dog)
• Disorder: Osteochondrodysplasia; pseudoachondroplastic dysplasia
• Mode of inheritance: Autosomal recessive
• Summary: Information relating to this phene was initially listed under OMIA 001315-9615 : Osteochondrodysplasia in Canis lupus familiaris
• 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.
• Defect: yes
• 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.

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 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)

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.

• 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)

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:606193 (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."