--- license: permission_granted topic_id: companion_breed_health_saint_bernard_omia2927_dog category: companion-breed-health title: "Saint Bernard — Vitamin D-deficiency rickets, type IA (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/saint_bernard_omia2927_2927.txt date_parsed: 2026-08-02 tokens_estimated: 249 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_saint_bernard_omia2927_dog/01_companion_breed_health_saint_bernard_omia2927_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Saint Bernard — Vitamin D-deficiency rickets, type IA (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000837/9615/" 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
Saint Bernard — Vitamin D-deficiency rickets, type IA (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: Saint Bernard (Dog)Disorder:Clin feat: Rhodin et al. (2023) investigated related pugs from 2 litters: Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH)2D3 concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25-hydroxyvitamin D.Defect: yesPathology: Rhodin et al. (2023) Necropsy [of affected pugs] revealed tongue-like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology.
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 388248469 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Rhodin et al. (2023) "A truncating mutation in the 1α-hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A."
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.
- 1988. Vitamin D-dependent rickets in a Saint Bernard dog. Journal of Small Animal Practice — DOI:10.1111/j.1748-5827.1988.tb02165.x — 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
- 2023. Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs. J Vet Intern Med — PubMed:PMID37293695 | DOI:10.1111/jvim.16791 — 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."