{"topic_id":"companion_breed_health_siamese_x_osteomalacia_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_siamese_x_osteomalacia_cat\ncategory: companion-breed-health\ntitle: \"Siamese X — Osteomalacia (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/siamese_x_osteomalacia_2928.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 192\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_siamese_x_osteomalacia_cat/01_companion_breed_health_siamese_x_osteomalacia_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: \"Siamese X — Osteomalacia (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000837/9685/\"\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# Siamese X — Osteomalacia (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: Siamese X`\n- `Disorder: Osteomalacia`\n- `Mode of inheritance: Autosomal recessive`\n- `Clin 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].`\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/<phene_id>.txt source file.\n- Gene: Entrez Gene ID 83148754 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- 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…\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/<phene_id>.txt source file.\n- 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\n- 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\n- 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\n- 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\n- 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\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/<phene_id>.txt source file.\n- OMIM:264700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:609506 (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 — Siamese X — Osteomalacia (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Siamese X — Osteomalacia (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/19138382/","retrieved":"","ref":"PMID 19138382","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":785,"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."}