OMIA 001661-9685 : Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CYP11B1||Felis catus||-||no genomic information (-..-)||CYP11B1||Ensembl|
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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|
|117||Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency||CYP11B1||missense||Naturally occurring variant||Felis_catus_9.0||F2||g.84247412G>A||c.1151G>A||p.(R384Q)||XM_004000154.3; XP_004000203.1 published as "a guanosine-to-adenosine mutation in exon 7 that results in an arginine to glutamine amino acid substitution; this latter mutation results in 11β-hydroxylase deficiency-associated CAH in people [Parajes et al. (2010) J Clin Endocrinol Metab 95:779–788].||2012||22827537||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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.
|2020||Szczerbal, I., Switonski, M. :|
|Genetic disorders of sex development in cats: An update. Anim Reprod Sci 216:106353, 2020. Pubmed reference: 32414464. DOI: 10.1016/j.anireprosci.2020.106353.|
|2012||Owens, S.L., Downey, M.E., Pressler, B.M., Birkenheuer, A.J., Chandler, D.W., Scott-Moncrieff, J.C. :|
|Congenital adrenal hyperplasia associated with mutation in an 11β-hydroxylase-like gene in a cat. J Vet Intern Med 26:1221-6, 2012. Pubmed reference: 22827537. DOI: 10.1111/j.1939-1676.2012.00971.x.|
|2004||Knighton, E.L. :|
|Congenital adrenal hyperplasia secondary to 11beta-hydroxylase deficiency in a domestic cat. J Am Vet Med Assoc 225:238-41, 231, 2004. Pubmed reference: 15323380.|
- Created by Frank Nicholas on 26 Oct 2011
- Changed by Frank Nicholas on 26 Oct 2011
- Changed by Frank Nicholas on 17 May 2013
- Changed by Frank Nicholas on 15 May 2020
- Changed by Imke Tammen2 on 22 Aug 2021