Steroid 11 beta-hydroxylase deficiency and related disorders.
Three disorders result from mutations involving two closely linked 11 beta-hydroxylase genes. Steroid 11 beta-hydroxylase deficiency results from mutations in CYP11B1. This is a form of congenital adrenal hyperplasia (CAH) characterized by hypertension and signs of androgen excess. Mutations in CYP11B2 cause aldosterone synthase deficiency, an isolated defect of aldosterone biosynthesis. Recombinations between these two genes cause glucocorticoid suppressible hyperaldosteronism, an autosomal dominant form of hypertension.
White
P C
PC
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA. Perrin.White@UTSouthwestern.edu
D000305:Adrenal Cortex Hormones / Q000096:biosynthesis; D000312:Adrenal Hyperplasia, Congenital; D019405:Cytochrome P-450 CYP11B2 / Q000172:deficiency / Q000235:genetics; D005315:Fetal Diseases / Q000188:drug therapy; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D006929:Hyperaldosteronism / Q000188:drug therapy / Q000235:genetics; D009154:Mutation; D011296:Prenatal Diagnosis; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics / Q000378:metabolism
D000305:Adrenal Cortex Hormones; D005938:Glucocorticoids; D019405:Cytochrome P-450 CYP11B2; D013252:Steroid 11-beta-Hydroxylase