MeSH Browser

MeSH Supplementary: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Unique ID: C535978
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535978
Entry Term(s): 11 Beta Hydroxylase Deficiency; 11-Beta-hydroxylase deficiency; 11B Hydroxylase Deficiency; Adrenal Hyperplasia IV; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency; Adrenal Hyperplasia, Hypertensive Form; Adrenal hyperplasia 4; Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency; CYP11B1 deficiency congenital; Congenital adrenal hyperplasia type 4; Hypertensive form of adrenal hyperplasia; Increased urinary 11-deoxytetrahydrocorticosterone level; P450C11B1 deficiency; Steroid 11 Beta Hydroxylase Deficiency; Steroid 11-Beta-Hydroxylase Deficiency; congenital CYP11B1 deficiency
Registry Number: 0
Heading Mapped to: *Adrenal Hyperplasia, Congenital
Frequency: 43
Note: 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 of Entry: 2010/08/25
Revision Date: 2021/09/16

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency MeSH Supplementary Concept Data 2023