OMIA:000017-9986 : Adrenal insufficiency, congenital, CYP11A1-related in Oryctolagus cuniculus (rabbit)

Categories: Reproductive system phene , Endocrine / exocrine gland phene (incl mammary gland)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 118485 (gene) , 613743 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1993

Cross-species summary: This is a type of XY difference of sexual development (XY DSD). This disorder results from a buildup of cholesterol in the adrenal cortex, which in turn results from a deficiency of the enzyme responsible for converting cholesterol into pregnenolone. The enzyme is cytochrome P450scc or P45011A. Renamed from 'Adrenal hyperplasia, congenital' [29/09/2023]

Species-specific name: Congenital adrenal hyperplasia

Species-specific symbol: CAH; ah

History: This disorder in rabbits was first described by Fox and Crary (1978).

Molecular basis: 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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: 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:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 Oryctolagus cuniculus NW_026259191.1 (3719761..3733021) CYP11A1 Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
629 Adrenal hyperplasia, congenital CYP11A1 deletion, gross (>20) Naturally occurring variant "a large deletion mutation in the P450scc gene" 1993 7682938

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000017-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Glazova, O., Bastrich, A., Deviatkin, A., Onyanov, N., Kaziakhmedova, S., Shevkova, L., Sakr, N., Petrova, D., Vorontsova, M.V., Volchkov, P. :
Models of congenital adrenal hyperplasia for gene therapies testing. Int J Mol Sci 24:5365, 2023. Pubmed reference: 36982440. DOI: 10.3390/ijms24065365.
1994 Iwamoto, K., Yang, X.M., Rogerson, F.M., Mason, J.I., Artwohl, J., Bolin, K., Klimah, P., Swart, P., Pang, S.Y. :
Evidence of a steroidogenic enzyme gene dose effect on adrenal gene expression in hereditary rabbit congenital adrenal hyperplasia Pediatric Research 36:660-666, 1994. Pubmed reference: 7877888.
1993 Yang, X.M., Iwamoto, K., Wang, M., Artwohl, J., Mason, J.I., Pang, S.Y. :
Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome-P450 cholesterol side-chain cleavage enzyme. Endocrinology 132:1977-1982, 1993. Pubmed reference: 7682938.
1992 Pang, S., Yang, X., Wang, M., Tissot, R., Nino, M., Manaligod, J., Bullock. L.P., Mason, J.I. :
Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression Endocrinology 131:181-186, 1992. Pubmed reference: 1611996.
1978 Fox, R.R., Crary, D.D. :
Genetics and pathology of hereditary adrenal hyperplasia in the rabbit Journal of Heredity 69:251-254, 1978. Pubmed reference: 731013.

Edit History

  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 08 Sep 2011
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 22 Jan 2012
  • Changed by Imke Tammen2 on 29 Sep 2023