Glucocorticoid resistance, generalized

Preferred Label : Glucocorticoid resistance, generalized;

Symbol : GCCR;

CISMeF acronym : GCCR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glucocorticoid receptor deficiency; Grl deficiency; Gccr deficiency; Gcr deficiency; Cortisol resistance from glucocorticoid receptor defect;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 3, group C, member 1 gene (NR3C1, 138040.0001);

Laboratory abnormalities : Hypoglycemia; Increased urinary free cortisol; Slightly elevated 24-hour mean plasma cortisol;

Prefixed ID : #615962;

Details

Origin ID

615962;

UMLS CUI

C1841972;

Automatic exact mappings (from CISMeF team)
- Generalized glucocorticoid resistance syndrome [ORDO Disease]
- Glucocorticoid Resistance [NCIt concept]
- glucocorticoid receptor deficiency [MeSH Supplementary Concept]
- glucocorticoid receptor deficiency [MeSH concept]
Genes related to phenotype
- Nuclear receptor subfamily 3, group C, member 1 [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Fatigue [HPO term]
- Hirsutism [HPO term]
- Hypertension [HPO term]
- Hypoglycemia [HPO term]
- Infertility [HPO term]
- Irregular menstruation [HPO term]
- Metabolic alkalosis [HPO term]
ORDO concept(s)
- Generalized glucocorticoid resistance syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized glucocorticoid resistance syndrome [ORDO Disease]
- Glucocorticoid Resistance [NCIt concept]
- glucocorticoid receptor deficiency [MeSH concept]
- glucocorticoid receptor deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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