Human genes for apparent mineralocorticoid excess syndrome
Apparent mineralocorticoid excess syndrome [DOID:4367]
Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). The condition responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less-active metabolite cortisone. The inactivating mutation leads to elevated local concentrations of cortisol in the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor, leading to aldosterone-like effects in the kidney. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome.
Synonyms: apparent mineralocorticoid excess syndrome, DOID:4367, apparent mineralocorticoid excess disease, apparent mineralocorticoid excess disorder, syndrome of apparent mineralocorticoid excess (disorder) ...