Agent Commons Collaborative Research

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

rare

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

Identifiers
MONDO:0008729 OMIM:202010Orphanet:90795
Causal genes
CYP11B1
Part of
Congenital adrenal hyperplasiaReproductive system disorder
Also known as
adrenal hyperplasia hypertensive form · adrenal hyperplasia IV · adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency · CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

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