KEGG DISEASE: Glucocorticoid resistance syndrome

KEGG

DISEASE: Glucocorticoid resistance syndrome

Entry

H01702                      Disease

Name

Glucocorticoid resistance syndrome

Description

Glucocorticoid resistance (GCCR) is a rare syndrome characterized by decreased sensitivity to cortisol, increased secretion of cortisol, resistance to adrenal suppression by dexamethasone and the absence of the clinical stigmata of Cushing's syndrome. The clinical symptom of glucocorticoid resistance is variable. Phenotypes commonly include hypoglycemia, hypertension, and metabolic alkalosis. Mutations in the the glucocorticoid receptor (GR) gene NR3C1 have been reported.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A71  Adrenogenital disorders
     H01702  Glucocorticoid resistance syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06310  CRH-ACTH-cortisol signaling
   H01702  Glucocorticoid resistance syndrome

Pathway

Neuroactive ligand-receptor interaction

Network

nt06310 CRH-ACTH-cortisol signaling

Gene

NR3C1 [HSA:2908] [KO:K05771]

Comment

This syndrome is distinct from "glucocorticoid resistance to the treatment".
See also H01431 Cushing's syndrome.

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Charmandari E, Kino T, Chrousos GP

Title

Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms.

Journal

Ann N Y Acad Sci 1024:168-81 (2004)
DOI:10.1196/annals.1321.014

Reference

Authors

Bray PJ, Cotton RG

Title

Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.

Journal

Hum Mutat 21:557-68 (2003)
DOI:10.1002/humu.10213

Reference

Authors

Donner KM, Hiltunen TP, Janne OA, Sane T, Kontula K

Title

Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.

Journal

Eur J Endocrinol 168:K9-K18 (2013)
DOI:10.1530/EJE-12-0532

LinkDB

» Japanese version

DBGET integrated database retrieval system