Apparent mineralocorticoid excess

Preferred Label : Apparent mineralocorticoid excess;

Symbol : AME;

CISMeF acronym : AME; AME1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cortisol 11-beta-ketoreductase deficiency; AME1;

Description : Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by Ferrari, 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 11-beta-hydroxysteroid dehydrogenase, type II gene (HSD11B2, 614232.0001);

Laboratory abnormalities : Decreased serum aldosterone; Low plasma renin activity; Hypokalemia; Increased urinary cortisol/cortisone ratio;

Prefixed ID : #218030;

Details

Origin ID

218030;

UMLS CUI

C0342488;

Automatic exact mappings (from CISMeF team)
- Apparent mineralocorticoid excess [ICD-11 More detail]
- Apparent mineralocorticoid excess [MedDRA Preferred Term]
- Apparent mineralocorticoid excess syndrome [PASCAL descriptor]
- Syndrome of apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- anterior median eminence [UBERON concept]
- apparent mineralocorticoid excess syndrome [DO Concept]
- breast feeding, exclusive [MeSH concept]
- methylamphotericin B [MeSH concept]
- methylamphotericin B [MeSH Supplementary Concept]
- mineralocorticoid excess syndrome, apparent [MeSH Descriptor]
CISMeF manual mappings
- Apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Apparent mineralocorticoid excess [MeSH concept]
- Apparent mineralocorticoid excess [ORDO Disease]
- apparent mineralocorticoid excess [DO Concept]
- apparent mineralocorticoid excess [MeSH Supplementary Concept]
DO Cross reference
- apparent mineralocorticoid excess syndrome [DO Concept]
False automatic mappings
- Armenia [NCIt concept]
- EDQM-HC Administration Method Terminology [NCIt concept]
Genes related to phenotype
- 11-beta-hydroxysteroid dehydrogenase, type II [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating aldosterone level [HPO term]
- Decreased circulating renin level [HPO term]
- Failure to thrive [HPO term]
- Growth delay [HPO term]
- Hypertension [HPO term]
- Hypertensive retinopathy [HPO term]
- Hypoaldosteronism [HPO term]
- Hypokalemia [HPO term]
- Metabolic alkalosis [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Apparent mineralocorticoid excess [ORDO Disease]
See also inter- (CISMeF)
- 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency [NCIt concept]
- Apparent mineralocorticoid excess [ORDO Disease]
- Apparent mineralocorticoid excess [MedDRA Preferred Term]
- Apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- Syndrome of Apparent Mineralocorticoid Excess [NCIt concept]
- Syndrome of apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- apparent mineralocorticoid excess [MeSH Supplementary Concept]
- apparent mineralocorticoid excess [DO Concept]
- apparent mineralocorticoid excess syndrome [DO Concept]
- mineralocorticoid excess syndrome, apparent [MeSH concept]
- mineralocorticoid excess syndrome, apparent [MeSH Descriptor]

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