Preferred Label : Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Adrenal hyperplasia iv; Adrenal hyperplasia, hypertensive form; 11-beta-hydroxylase deficiency; P450c11b1 deficiency; Steroid 11-beta-hydroxylase deficiency;
Description : Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal
recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization,
and hypertension. The defect causes decreased synthesis of cortisol and corticosterone
in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors
11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining
mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due
to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases;
approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White
et al., 1991).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the cytochrome P450, subfamily XIB, polypeptide 1 gene (CYP11B1,
610613.0001);
Laboratory abnormalities : Increased 11-deoxycorticosterone; Increased 11-deoxycortisol; Decreased aldosterone; Decreased renin; Decreased cortisol; Increased ACTH; Increased androgens; Hypokalemia;
Prefixed ID : #202010;
Origin ID : 202010;
UMLS CUI : C0268292;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
