Skip navigation

Disease Mineralocorticoid Excess Syndrome, Apparent

Name Mineralocorticoid Excess Syndrome, Apparent
Synonym Apparent Mineralocorticoid Excess Syndrome
Definition A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D043204
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Steroid Metabolism, Inborn Errors Has associated chemicals Has associated genes Mineralocorticoid Excess Syndrome, Apparent Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Steroid Metabolism, Inborn Errors Has associated chemicals Has associated genes Mineralocorticoid Excess Syndrome, Apparent Has associated chemicals Has associated genes

Top ↑ Descendants

Mineralocorticoid Excess Syndrome, Apparent Has associated chemicals Has associated genes
  Apparent mineralocorticoid excess Has associated chemicals Has associated genes