Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency [Supplementary Concept]
An autosomal recessive form of congenital adrenal hyperplasia due to defective CORTICOSTEROID biosynthesis, which results 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 CORTODOXONE and 11-deoxycorticosterone, resulting in arterial hypertension. Mutations in the CYP11B1 gene have been identified. OMIM: 202010
Date introduced: August 25, 2010
MeSH Unique ID: C535978
Heading Mapped to:
Entry Terms:
- CYP11B1 deficiency congenital
- Adrenal hyperplasia 4
- Adrenal Hyperplasia IV
- Congenital adrenal hyperplasia type 4
- Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency
- Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
- Adrenal Hyperplasia, Hypertensive Form
- congenital CYP11B1 deficiency
- Hypertensive form of adrenal hyperplasia
- 11-Beta-hydroxylase deficiency
- 11B Hydroxylase Deficiency
- 11 Beta Hydroxylase Deficiency
- Steroid 11 Beta Hydroxylase Deficiency
- P450C11B1 deficiency
- Steroid 11-Beta-Hydroxylase Deficiency
- Increased urinary 11-deoxytetrahydrocorticosterone level