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Apparent mineralocorticoid excess

Synonyms
AME 1; Apparent Mineralocorticoid Excess Syndrome; Cortisol 11-beta-ketoreductase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by Ferrari, 2010). [from OMIM]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AME, AME1, HSD11K, HSD2, SDR9C3, HSD11B2
    Summary: hydroxysteroid 11-beta dehydrogenase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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