Defective CYP11B1 causes AH4

Stable Identifier
R-HSA-5579017
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4)
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Cytochrome P450 11B1, mitochondrial (CYP11B1) possesses steroid 11-beta-hydroxylase activity which can convert 11-deoxycortisol to cortisol. 11-beta-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH) (5-8%), second only to 21-hydroxylase deficiency which accounts for more than 90% of CAH (Zhao et al. 2008). Defects in CYP11B1 can cause Adrenal hyperplasia 4 (AH4; MIM:202010), a form of congenital adrenal hyperplasia which is a common recessive disease due to failure to convert 11-deoxycortisol to cortisol. This impaired corticosteroid biosynthesis results in androgen excess, virilization and hypertension (White et al. 1991).

Literature References
PubMed ID Title Journal Year
18661760 Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency

Tian, HM, Zhao, LQ, Han, S

World J Pediatr 2008
2022736 A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

Rösler, A, New, MI, White, PC, Leiberman, E, Hochberg, Z, Dupont, J

J. Clin. Invest. 1991
Participants
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Disease
Name Identifier Synonyms
adrenal gland disease DOID:9553
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