--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_osteomalacia_cat category: companion-breed-health title: "Domestic Shorthair — Osteomalacia (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_osteomalacia_2928.txt date_parsed: 2026-08-02 tokens_estimated: 196 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_osteomalacia_cat/01_companion_breed_health_domestic_shorthair_osteomalacia_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 — Osteomalacia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000837/9685/" 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 — Osteomalacia (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: OsteomalaciaMode of inheritance: Autosomal recessiveClin feat: Gahn et al. (2012): A 3-month-old female Siamese mix was referred ... with clinical signs including lethargy, obstipation, pelvic limb gait abnormality and evidence of generalized pain/sensitivity. Orthogonal radiographic imaging indicated marked osteopenia and radiolucency of the femoral necks, capital and distal physis, distal femur and proximal tibia. Additionally, pelvic asymmetry was observed ... . ... complete blood counts were within normal ranges while ... elevated alkaline phosphatase ... and creatinine phosphokinase ... and decreased calcium ... [were reported].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 83148754 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Giesen et al. (2009) reported an affected cat with two mutations in the CYP27B1 gene: a missense mutation (Val75Met) and a single base deletion (731delG, omia.variant:502), the latter of which is more likely to be the cause of the clinical signs. Grahn et al. (2012) reported a second causative mutation also in exon 4 of the same gene: "exon 4 G637T [omia.variant:345] nonsense mutation results in a…
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.
- 2009. Vitamin D-dependent hereditary rickets type I in a cat. J Vet Intern Med — PubMed:PMID19138382 | DOI:10.1111/j.1939-1676.2008.0220.x — OMIA Phene_Article / Article
- 2011. Successful therapy of vitamin D-dependant rickets in a kitten. J Am Anim Hosp Assoc — PubMed:PMID21673332 | DOI:10.5326/JAAHA-MS-5610 — OMIA Phene_Article / Article
- 2012. A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA. J Feline Med Surg — PubMed:PMID22553308 | DOI:10.1177/1098612X12446637 — OMIA Phene_Article / Article
- 2021. Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract — PubMed:PMID34323302 | DOI:10.1111/jsap.13401 — OMIA Phene_Article / Article
- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:264700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:609506 (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."