MeSH Browser

MeSH Supplementary: Glucocorticoid Receptor Deficiency
Unique ID: C564221
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C564221
Entry Term(s): Body Composition, Beneficial; Cortisol Resistance from Glucocorticoid Receptor Defect; GCCR Deficiency; GCR Deficiency; Glucocorticoid Resistance; Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
Registry Numbers: 0
Heading Mapped to: *Metabolism, Inborn Errors; Receptors, Glucocorticoid / deficiency
Frequency: 71
Note: A hereditary autosomal dominant disease characterized by increased plasma and urinary CORTISOL, resistance to adrenal suppression by DEXAMETHASONE, and the absence of clinical stigmata of CUSHING SYNDROME. Symptoms are variable but may include HYPOGLYCEMIA; HYPERTENSION, and metabolic ALKALOSIS; CHRONIC FATIGUE SYNDROME, and ANXIETY. In females, overproduction of adrenal ANDROGENS may cause INFERTILITY, ALOPECIA (male pattern bladness) HIRSUTISM, and menstrual irregularities. Caused by mutations in the NR3C1 gene. OMIM: 615962
Date of Entry: 2012/11/05
Revision Date: 2015/08/18

Concept UI: M0564521
Registry Numbers: 0
Terms: Glucocorticoid Receptor Deficiency Preferred Term
Term UI T804426
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Glucocorticoid Resistance
Term UI T804429
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); GCR Deficiency
Term UI T829415
Date09/11/2012
LexicalTag NON
ThesaurusID OMIM (2013); Cortisol Resistance from Glucocorticoid Receptor Defect
Term UI T829417
Date09/11/2012
LexicalTag NON
ThesaurusID OMIM (2013); GCCR Deficiency
Term UI T829418
Date09/11/2012
LexicalTag NON
ThesaurusID OMIM (2013)

Glucocorticoid Receptor Deficiency MeSH Supplementary Concept Data 2025