Domestic Shorthair — Fibrodysplasia ossificans (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia681_cat category: companion-breed-health title: "Domestic Shorthair — Fibrodysplasia ossificans (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/domestic_shorthair_omia681_681.txt date_parsed: 2026-08-02 tokens_estimated: 227 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia681_cat/01_companion_breed_health_domestic_shorthair_omia681_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: "Domestic Shorthair — Fibrodysplasia ossificans (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000388/9685/" 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

Domestic Shorthair — Fibrodysplasia ossificans (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: Domestic Shorthair (Cat)
• Disorder:
• Mode of inheritance: Autosomal dominant
• Clin feat: Casal et al. (2019): Two domestic shorthair cats, 1 intact female and 1 intact male, presented with progressive limb lameness and digital deformities at 4 and 6 months of age. Stiffness and swelling of the distal thoracic and pelvic limb joints progressed to involve hip and shoulder joints, resulting in reduced mobility. Radiographs in both cats and computed tomography of the male cat revealed ankylosing, polyarticular deposits of extracortical heterotopic bone spanning multiple axial and appendicular joints, extending into adjacent musculotendinous tissues. All findings supported fibrodysplasia ossificans progressiva (FOP), a disorder characterized by toe malformations and progressive heterotopic ossification in humans.
• Defect: yes

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 389721592 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Applying a comparative candidate gene approach to two affected domestic shorthair cats, Casal et al. (2019) "revealed the same heterozygous mutation in the activin A receptor type I (<em>ACVR1</em>) gene [c.617G&gt;A; p.R206H, omia.variant:1073] that occurs in humans with FOP [fibrodysplasia ossificans progressiva]" (see OMIM hyperlink at the top of this page).

Causal variant(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.

• Variant: allele D; chromosome 8; pathogenicity class 1 — OMIA Variant / Variant_Phene

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.

• 1992. Fibrodysplasia ossificans in a Himalayan cat. Australian Veterinary Practitioner — OMIA Phene_Article / Article
• 1996. Fibrodysplasia ossificans progressiva in cats - a potentially important animal model of the human disease (reprinted from feline health topics for veterinarians, vol 9, pg 4, 1994). Feline Practice — OMIA Phene_Article / Article
• 1984. Fibrodysplasia ossificans in three cats. Vet Pathol — PubMed:PMID6485209 | DOI:10.1177/030098588402100507 — OMIA Phene_Article / Article
• 1992. Fibrodysplasia ossificans progressiva in the cat. A case report. J Vet Intern Med — PubMed:PMID1484375 — OMIA Phene_Article / Article
• 2013. Imaging diagnosis: fibrodysplasia ossificans progressiva in a cat. Vet Radiol Ultrasound — PubMed:PMID23578335 | DOI:10.1111/vru.12040 — OMIA Phene_Article / Article
• 2009. Fibrodysplasia ossificans progressiva in a Maine Coon cat with prominent ossification in dorsal muscle. J Vet Med Sci — PubMed:PMID20046034 | DOI:10.1292/jvms.001649 — OMIA Phene_Article / Article
• 2006. Fibrodysplasia ossificans progressiva-like condition in a cat. J Vet Med Sci — PubMed:PMID17019075 | DOI:10.1292/jvms.68.1003 — OMIA Phene_Article / Article
• 2019. Identification of the identical human mutation in ACVR1 in 2 cats with fibrodysplasia ossificans progressiva. Vet Pathol — PubMed:PMID31007133 | DOI:10.1177/0300985819835585 — OMIA Phene_Article / Article
• 2023. Use of Enrofloxacin and Hydrotherapy in the Management of Fibrodysplasia Ossificans Progressiva (FOP) in a Savannah Cat. Top Companion Anim Med — PubMed:PMID36592860 | DOI:10.1016/j.tcam.2022.100757 — OMIA Phene_Article / Article
• 2019. Bilateral fibrodysplasia ossificans affecting the masticatory muscles and causing irreversible trismus in a domestic shorthair cat. JFMS Open Rep — PubMed:PMID30984411 | DOI:10.1177/2055116919839857 — 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:135100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:102576 (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."