GTR Home > Conditions/Phenotypes > Deficiency of steroid 11-beta-monooxygenase

Deficiency of steroid 11-beta-monooxygenase

Synonyms
11-BETA-HYDROXYLASE DEFICIENCY; 11-alpha beta-hydroxylase deficiency; 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; ADRENAL HYPERPLASIA IV; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; Adrenal hyperplasia 4; Adrenal hyperplasia hypertensive form; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; P450C11B1 DEFICIENCY; STEROID 11-BETA-HYDROXYLASE DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

52 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (52 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPN1, CYP11B, FHI, P450C11, CYP11B1
    Summary: cytochrome P450 family 11 subfamily B member 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.