OMIA:001661-9685 : Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency in Felis catus
In other species: dog
Categories: Endocrine / exocrine gland phene (incl mammary gland)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 202010 (trait) , 610613 (gene)
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: 2012
Species-specific name: Congenital adrenal hypoplasia (CAH)
Species-specific symbol: CAH
Inheritance: Knighton (2004) reported a single cat with deficiency of 11-beta hydroxylase. Since the deficiency is due to a mutation in the gene that encodes this enzyme (see below), the disorder is almost certainly autosomal recessive.
Molecular basis: Adopting the comparative candidate-gene strategy (based on the similarity of diagnostic signs of a single affected cat with the homologous human disorder), Owens et al. (2012) sequenced the feline CYP11B1 gene (encoding 11β-hydroxylase) in that single affected cat and a healthy control cat, identifying the causal mutation as a G>A missense SNP 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".
Clinical features: Key clinical features reflect the deficiency of the enzyme (11β-hydroxylase) and consequential impaired biosynthesis of cortisol and changes to androgen levels (Owens et al., 2012; Stachowiak, 2022), including presence of indeterminant or secondary sex
characteristics post desexing, including gynecomastia (enlarged breast tissue) concurrent with fully formed penis with barbs (Knighton, 2004; Owens et al., 2012); intermale aggression (Owens et al., 2012); unexplained hypertension and excess salt and water retention (Owens et al., 2012); polyuria and polydipsia (Knighton, 2004; Owens et al., 2012); foul-smelling and minimally concentrated urine (Owens et al., 2012); small body frame, thickened skin and greasy haircoat (Owens et al., 2012); decreased baseline and stimulated serum cortisol and aldosterone concentrations (Owens et al., 2012); increased baseline and stimulated progesterone and androstenedione concentrations (Owens et al., 2012) and increased serum urea nitrogen concentration, hypernatremia, hyperglobulinemia (Owens et al., 2012).
IT thanks DVM student Angela Jeppesen, who provided the basis of this contribution in May 2023.
Breeds: Domestic medium-haired, Domestic Shorthair.
|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.
|2022||Stachowiak, M., Szczerbal, I., Nowacka-Woszuk, J., Nowak, T., Sowinska, N., Lukomska, A., Gogulski, M., Badura, M., Sklorz-Mencel, K., Jagodka, D., Nizanski, W., Dzimira, S., Switonski, M. :|
|Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. Sci Rep 12:17807, 2022. Pubmed reference: 36280698 . DOI: 10.1038/s41598-022-21718-y.|
|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 .|
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