" /> Glucocorticoid resistance, generalized - CISMeF





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;

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29/07/2025


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