--- license: permission_granted topic_id: companion_species_health_congenital_adrenal_hyperplasia_rabbit category: companion-species-health title: "Rabbit (Oryctolagus cuniculus) — Congenital adrenal hyperplasia (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/rabbit_congenital_adrenal_hyperplasia_33.txt date_parsed: 2026-08-24 tokens_estimated: 87 verification: method: substring_match claims: 3 passed: 3 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_congenital_adrenal_hyperplasia_rabbit/01_companion_species_health_congenital_adrenal_hyperplasia_rabbit.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Rabbit (Oryctolagus cuniculus) — Congenital adrenal hyperplasia (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA000017/9986/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false
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."---
Rabbit (Oryctolagus cuniculus) — Congenital adrenal hyperplasia (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Rabbit (Oryctolagus cuniculus)Disorder: Congenital adrenal hyperplasiaClin feat: Death within 3 days of birth; complete feminization of external genitalia of males; grossly enlarged adrenals (195 mg cf 3 mg); hypertrophied zona fasciculta cells with multiple vacuolization
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: CYPXIA1 (Entrez Gene ID 175428176) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Molecular evidence provided by Yang et al. (1993) implicates a large deletion in the gene for cholesterol side-chain cleavage enzyme (P450SCC, renamed CYP11A1). Sequencing of the normal and mutant forms should provide definitive evidence of the nature of the mutation.
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.
- 1993. Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome-P450 cholesterol side-chain cleavage enzyme. Endocrinology — PubMed:PMID7682938 | DOI:10.1210/endo.132.5.7682938 — OMIA Phene_Article / Article
- 1994. Evidence of a steroidogenic enzyme gene dose effect on adrenal gene expression in hereditary rabbit congenital adrenal hyperplasia. Pediatric Research — PubMed:PMID7877888 — OMIA Phene_Article / Article
- 1978. Genetics and pathology of hereditary adrenal hyperplasia in the rabbit. Journal of Heredity — PubMed:PMID731013 — OMIA Phene_Article / Article
- 1992. Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression. Endocrinology — PubMed:PMID1611996 — OMIA Phene_Article / Article
- 2023. Models of congenital adrenal hyperplasia for gene therapies testing. Int J Mol Sci — PubMed:PMID36982440 | DOI:10.3390/ijms24065365 — 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:118485 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613743 (type: trait) — OMIA Group_OMIM (via OMIA_ID)