DISEASES

Disease-gene associations mined from literature

Human genes for apparent mineralocorticoid excess syndrome

Apparent mineralocorticoid excess syndrome [DOID:4367]

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.

Synonyms:  apparent mineralocorticoid excess syndrome,  DOID:4367,  apparent mineralocorticoid excess disease,  apparent mineralocorticoid excess disorder,  apparent mineralocorticoid excess syndromes ...