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GTR Home > Conditions/Phenotypes > Corticosterone 18-monooxygenase deficiency

Corticosterone 18-monooxygenase deficiency

Synonyms
18 Hydroxylase deficiency; 18 alpha hydroxylase deficiency; ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE; ALDOSTERONE DEFICIENCY I; Aldosterone deficiency 1; Aldosterone deficiency due to defect in 18 hydroxylase; CMO 1 deficiency; CMO I DEFICIENCY; Corticosterone methyloxidase type 1 deficiency; STEROID 18-HYDROXYLASE DEFICIENCY

Summary

CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (610600), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). [from OMIM]

Available tests

33 tests are in the database for this condition.

Clinical tests (33 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALDOS, CPN2, CYP11B, CYP11BL, CYPXIB2, P-450C18, P450C18, P450aldo, CYP11B2
    Summary: cytochrome P450 family 11 subfamily B member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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