OMIA:000017-9986 : Adrenal insufficiency, congenital, CYP11A1-related in Oryctolagus cuniculus
Links to MONDO diseases:
- MONDO:0013400: Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
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.
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
|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
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 .|
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