/congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Rare Disease

MONDO:0008729

Also Known As

CAH due to 11-beta-hydroxylase deficiencyCYP11B1 deficiencyadrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency11-Beta-Hydroxylase deficiencyP450C11B1 deficiencyadrenal hyperplasia 4adrenal hyperplasia IVadrenal hyperplasia hypertensive formadrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiencyadrenal hyperplasia, hypertensive formsteroid 11-Beta-Hydroxylase deficiency

Definition

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.

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Associated Genes

CYP11B1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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