{"topic_id":"companion_breed_health_savannah_omia681_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_savannah_omia681_cat\ncategory: companion-breed-health\ntitle: \"Savannah — Fibrodysplasia ossificans (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/savannah_omia681_681.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 225\nverification:\n method: substring_match\n claims: 5\n passed: 5\n date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_savannah_omia681_cat/01_companion_breed_health_savannah_omia681_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n title: \"Savannah — Fibrodysplasia ossificans (hereditary; OMIA-verified breed predisposition)\"\n url: \"https://omia.org/OMIA000388/9685/\"\n retrieved: \"2026-08-02\"\n ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n needs_review: false\n\n\n# Savannah — Fibrodysplasia ossificans (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Savannah (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal dominant`\n- `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.`\n- `Defect: yes`\n## Associated gene(s)\nDerived 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/.txt source file.\n- Gene: Entrez Gene ID 389721592 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- 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 (ACVR1) gene [c.617G>A; p.R206H, omia.variant:1073] that occurs in humans with FOP [fibrodysplasia ossificans progressiva]\" (see OMIM hyperlink at the top of this page).\n\n## Causal variant(s)\nDerived 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/.txt source file.\n- Variant: allele D; chromosome 8; pathogenicity class 1 — OMIA Variant / Variant_Phene\n\n## Evidence (references)\nDerived 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/.txt source file.\n- 1992. Fibrodysplasia ossificans in a Himalayan cat. Australian Veterinary Practitioner — OMIA Phene_Article / Article\n- 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\n- 1984. Fibrodysplasia ossificans in three cats. Vet Pathol — PubMed:PMID6485209 | DOI:10.1177/030098588402100507 — OMIA Phene_Article / Article\n- 1992. Fibrodysplasia ossificans progressiva in the cat. A case report. J Vet Intern Med — PubMed:PMID1484375 — OMIA Phene_Article / Article\n- 2013. Imaging diagnosis: fibrodysplasia ossificans progressiva in a cat. Vet Radiol Ultrasound — PubMed:PMID23578335 | DOI:10.1111/vru.12040 — OMIA Phene_Article / Article\n- 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\n- 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\n- 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\n- 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\n- 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\n\n## Comparative medicine (human OMIM)\nDerived 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/.txt source file.\n- OMIM:135100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:102576 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n method: derived_from_dataset\n source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n 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.\"\n","sources":["companion-breed-health — Savannah — Fibrodysplasia ossificans (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Savannah — Fibrodysplasia ossificans (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/6485209/","retrieved":"","ref":"PMID 6485209","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1007,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}