Pony (Horse) — Familial adenomatous polyposis (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: Pony (Horse)Disorder:Mode of inheritance: Probably autosomal dominantClin feat: Martin et al. (2026) report a 12 year-old-pony mare with bilateral nasal discharge, cutaneous masses, and numerous hard enlargements involving the bones of the skull, maxilla, mandible, and cervical vertebrae. Oral exam revealed advanced dental disease with hard enlargements adjacent to and between numerous cheek teeth. Radiographs and computed tomography confirmed the presence of severe dental disease and proliferative bone lesions disseminated along the skull, hyoid apparatus, and cranial cervical vertebrae. The bony proliferations extended into the subcutis, nasal cavity, paranasal sinuses, orbits, cranial vault, and vertebral canal.Defect: yesPathology: Martin et al. (2026): On necropsy, multiple osteomas were present on the skull and to a lesser extent the cervical vertebrae. Additional abnormalities included multiple mucosal polyps in the small intestine, epidermal inclusion cysts, and adrenocortical adenomas.
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 398299103 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Martin et al. (2026): "Whole genome sequencing and variant discovery in the [affected] pony identified multiple unique variants, including a likely pathogenic single base pair insertion leading to a frameshift in APC (ENSECAP00000007276.1:p.Glu1527ArgfsTer9) [omia.variant:1897]."
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.
- 2026. Germline pathogenic variant in the APC gene suggestive of Gardner syndrome in a pony. Case Rep Vet Med — PubMed:PMID42038751 | DOI:10.1155/crve/1395580 — 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:175100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:611731 (type: gene) — OMIA Group_OMIM (via OMIA_ID)