OMIA 000017-9986 : Adrenal hyperplasia, congenital in Oryctolagus cuniculus

See the equivalent entry at NCBI

Possible human homologues (MIM numbers): 118485 , 201710

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key mutation known: yes

Year key mutation first reported: 1993

Cross-species summary: 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.

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

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 Oryctolagus cuniculus - no genomic information (-..-) CYP11A1 Homologene, Ensembl, NCBI gene

Variants

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

References


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.
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