apparent mineralocorticoid excess syndrome (DOID:4367)
Alliance: disease page
Synonyms: 11-beta-hydroxysteroid dehydrogenase deficiency type 2; cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid excess; Ulick syndrome
Alt IDs: OMIM:218030, MESH:D043204, NCI:C123231, ORDO:320, UMLS_CUI:C0342488
Definition: A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.