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Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Mineralocorticoid Excess Syndrome, Apparent
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Mineralocorticoid Excess Syndrome, Apparent

Preferred term

Mineralocorticoid Excess Syndrome, Apparent  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • 11-beta-Ketoreductase Deficiency, Cortisol
  • Apparent Mineralocorticoid Excess Syndrome
  • Cortisol 11-beta-Ketoreductase Deficiencies
  • Cortisol 11 beta Ketoreductase Deficiency
  • Cortisol 11-beta-Ketoreductase Deficiency
  • Deficiency, Cortisol 11-beta-Ketoreductase

Scope note

  • 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.

History note

  • 2004

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URI

http://www.yso.fi/onto/mesh/D043204

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