--- license: permission_granted topic_id: companion_species_health_osteochondromatosis_ext1_related_cat category: companion-species-health title: "Cat (Felis catus) — Osteochondromatosis, EXT1-related (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/cat_osteochondromatosis_ext1_related_4964.txt date_parsed: 2026-08-24 tokens_estimated: 243 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_osteochondromatosis_ext1_related_cat/01_companion_species_health_osteochondromatosis_ext1_related_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Cat (Felis catus) — Osteochondromatosis, EXT1-related (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA002554/9685/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false
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."---
Cat (Felis catus) — Osteochondromatosis, EXT1-related (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Cat (Felis catus)Disorder: Osteochondromatosis, EXT1-relatedClin feat: Fujii et al. (2022): "A 1- year- old, mixed- breed, indoor- only, neutered male cat was presented with non-inflammatory masses in multiple bones. Computed tomography revealed pro-liferative lesions in the right ulna, left humerus, right scapula, pubis and ischium".Pathology: Fujii et al. (2022): "Histopathological examination revealed that bone and cartilage tissues (right ulna and right scapula) collected via biopsy needle did not show malignancy. FeLV antigen and feline immunodeficiency virus (FIV) antibody were absent as per the immunochromatographic test kit (One Step FIV Antibody, FeLV Antigen Test, Kyokuto Pharmaceutical Industrial Co.). In addition, FeLV proviral DNA was not detected in real-time PCR of cat whole blood conducted in IDEXX laboratories. Based on the above findings, we diagnosed this case as FeLV-negative OC."
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 389714517 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Fujii et al. (2022) "examined the EXT1 and EXT2 [comparative candidate] genes in a feline leukemia virus-negative cat with osteochondromatosis. Genetic analysis revealed a heterozygous single base pair duplication in exon 6 of the EXT1 gene (XM_023248762.2:c.1468dupC [omia.variant:1467]), leading to a premature stop codon in the EXT1 protein. Notably, this frameshift variant is recognized as one o…
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.
- 2022. A frameshift variant in the EXT1 gene in a feline leukemia virus-negative cat with osteochondromatosis. Anim Genet — PubMed:PMID35719100 | DOI:10.1111/age.13232 — OMIA Phene_Article / Article
- 2023. Feline osteochondromatosis in a 12-year-old feline leukaemia virus-negative cat. J Comp Pathol — PubMed:PMID37597496 | DOI:10.1016/j.jcpa.2023.07.003 — OMIA Phene_Article / Article
- 2014. Feline osteochondromatosis in a FELV-negative European shorthair cat. Tierarztl Prax Ausg K Kleintiere Heimtiere — PubMed:PMID24518948 — 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:133700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:608177 (type: gene) — OMIA Group_OMIM (via OMIA_ID)