MCID: GLC037
MIFTS: 55

Glucocorticoid Resistance malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Glucocorticoid Resistance

About this section


OMIM:47 The human glucocorticoid receptor belongs to the steroid/thyroid/retinoic acid superfamily of nuclear receptors... (138040) more...

MalaCards based summary: Glucocorticoid Resistance, also known as cortisol resistance from glucocorticoid receptor defect, is related to myeloma and breast cancer, and has symptoms including anxiety, infertility and menstrual irregularities. An important gene associated with Glucocorticoid Resistance is NR3C1 (nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)), and among its related pathways are Glucocorticoid receptor regulatory network and Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins. The compounds dexamethasone sodium phosphate and mirtazapine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, t cells and kidney, and related mouse phenotypes are renal/urinary system and normal.

Description from OMIM:47 615962

Aliases & Classifications for Glucocorticoid Resistance

About this section
Sources:
47OMIM, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
See all sources

Glucocorticoid Resistance, Aliases & Descriptions:

Name: Glucocorticoid Resistance 47 43 49 62
 
Cortisol Resistance from Glucocorticoid Receptor Defect 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
glucocorticoid resistance:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Orphanet49 786
ICD10 via Orphanet28 E25.8

Related Diseases for Glucocorticoid Resistance

About this section

Graphical network of the top 20 diseases related to Glucocorticoid Resistance:



Diseases related to glucocorticoid resistance

Symptoms for Glucocorticoid Resistance

About this section

Symptoms by clinical synopsis from OMIM:

138040

Clinical features from OMIM:

615962,138040

HPO human phenotypes related to Glucocorticoid Resistance:

(show all 10)
id Description Frequency HPO Source Accession
1 anxiety rare (5%) HP:0000739
2 infertility rare (5%) HP:0000789
3 menstrual irregularities rare (5%) HP:0000858
4 autosomal dominant inheritance HP:0000006
5 hypertension HP:0000822
6 hypokalemic alkalosis HP:0001949
7 increased urinary cortisol level HP:0012030
8 hypoglycemia HP:0001943
9 fatigue HP:0012378
10 metabolic alkalosis HP:0200114

Drugs & Therapeutics for Glucocorticoid Resistance

About this section

Drug clinical trials:

Search ClinicalTrials for Glucocorticoid Resistance

Search NIH Clinical Center for Glucocorticoid Resistance

Genetic Tests for Glucocorticoid Resistance

About this section

Anatomical Context for Glucocorticoid Resistance

About this section

MalaCards organs/tissues related to Glucocorticoid Resistance:

33
Thyroid, T cells, Kidney, Skin, Testes, B cells, Smooth muscle, Spleen, Thymus, Brain, Lung, Breast, Prostate, B lymphoblasts, Pituitary

Animal Models for Glucocorticoid Resistance or affiliated genes

About this section

MGI Mouse Phenotypes related to Glucocorticoid Resistance:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5HSD11B2, FKBP5, BCL2L11, NR3C1
2MP:00028738.3NR3C1, BCL2L11, FKBP5, HSD11B2
3MP:00030128.2NR2F2, NR3C1, BCL2L11, HSD11B2
4MP:00053858.1NR2F2, NR3C1, BCL2L11, HSD11B2
5MP:00053897.9FKBP5, BCL2L11, NR3C1, NR2F2
6MP:00053767.6HSD11B2, FKBP5, BCL2L11, NR3C1, NR2F2
7MP:00107687.3NR2F2, NR3C1, BCL2L11, BCL2A1, FKBP5, HSD11B2

Publications for Glucocorticoid Resistance

About this section

Articles related to Glucocorticoid Resistance:

(show top 50)    (show all 219)
idTitleAuthorsYear
1
Glucocorticoid receptor polymorphisms: Lack of association with glucocorticoid resistance among Chinese bullous disease patients. (25894104)
2015
2
Inhibition of autophagy overcomes glucocorticoid resistance in lymphoid malignant cells. (25778879)
2015
3
Targeting of the deubiquitinase USP9X attenuates B-cell acute lymphoblastic leukemia cell survival and overcomes glucocorticoid resistance. (25735983)
2015
4
Glucocorticoid resistance in dialysis patients reduces long-term graft survival after kidney transplantation. (24746801)
2014
5
Multi-agent chemotherapy overcomes glucocorticoid resistance conferred by a BIM deletion polymorphism in pediatric acute lymphoblastic leukemia. (25090024)
2014
6
Rheumatoid arthritis--a neuroendocrine immune disorder: glucocorticoid resistance, relative glucocorticoid deficiency, low-dose glucocorticoid therapy, and insulin resistance. (25611004)
2014
7
Loss of TBL1XR1 disrupts glucocorticoid receptor recruitment to chromatin and results in glucocorticoid resistance in a B-lymphoblastic leukemia model. (24895125)
2014
8
Rapamycin sensitizes glucocorticoid resistant acute lymphoblastic leukemia CEM-C1 cells to dexamethasone induced apoptosis through both mTOR suppression and up-regulation and activation of glucocorticoid receptor. (23611130)
2013
9
Inflammatory cellular phenotypes and molecular mechanisms of glucocorticoid resistance in patients with bronchial asthma. (23597084)
2013
10
Role of human papillomaviruses in persistent and glucocorticoid-resistant juvenile phimosis. (22471970)
2013
11
Elevated S100A8/S100A9 expression causes glucocorticoid resistance in MLL-rearranged infant acute lymphoblastic leukemia. (22282267)
2012
12
Glucocorticoid resistance in paediatric acute lymphoblastic leukaemia. (22050419)
2012
13
Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene. (21362280)
2011
14
Glucocorticoid receptor alpha isoform-selective regulation of antiapoptotic genes in osteosarcoma cells: a new mechanism for glucocorticoid resistance. (21527497)
2011
15
Super-high-dose methylprednisolone does not improve efficacy or induce glucocorticoid resistance in experimental allergic encephalomyelitis. (20616573)
2011
16
The zebrafish as an in vivo model system for glucocorticoid resistance. (20493895)
2010
17
Leukemia-initiating cells in human T-lymphoblastic leukemia exhibit glucocorticoid resistance. (20810926)
2010
18
Heterogeneity of glucocorticoid resistance in patients with bronchial asthma. (23675190)
2010
19
Glucocorticoid resistance in inflammatory diseases. (19482216)
2009
20
Interleukin-1 receptor type 1-deficient mice fail to develop social stress-associated glucocorticoid resistance in the spleen. (18037570)
2008
21
Rapamycin reverses NPM-ALK-induced glucocorticoid resistance in lymphoid tumor cells by inhibiting mTOR signaling pathway, enhancing G1 cell cycle arrest and apoptosis. (18685609)
2008
22
Activated glucocorticoid receptor interacts with the INHAT component Set/TAF-Ibeta and releases it from a glucocorticoid-responsive gene promoter, relieving repression: implications for the pathogenesis of glucocorticoid resistance in acute undifferentiated leukemia with Set-Can translocation. (18096310)
2008
23
Primary glucocorticoid resistance syndrome presenting as pseudo-precocious puberty and galactorrhea]. (19024330)
2008
24
Divergent mechanisms of glucocorticoid resistance in experimental models of pediatric acute lymphoblastic leukemia. (17483364)
2007
25
Unsupervised proteome analysis of human leukaemia cells identifies the Valosin-containing protein as a putative marker for glucocorticoid resistance. (16541142)
2006
26
Glucocorticoid resistance syndrome: A diagnostic and therapeutic approach. (17161335)
2006
27
The physiology of human glucocorticoid receptor beta (hGRbeta) and glucocorticoid resistance. (16855130)
2006
28
Genetic variations in the glucocorticoid receptor gene are not related to glucocorticoid resistance in childhood acute lymphoblastic leukemia. (16115950)
2005
29
Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype. (15070967)
2004
30
Glucocorticoid-induced apoptosis and glucocorticoid resistance: molecular mechanisms and clinical relevance. (15243581)
2004
31
Molecular mechanisms of glucocorticoid resistance in splenocytes of socially stressed male mice. (12667647)
2003
32
Cell- and tIssue-specific effects of corticosteroids in relation to glucocorticoid resistance: examples from the brain. (12844331)
2003
33
Glucocorticoid resistance in childhood leukaemia: mechanisms and modulation. (12648060)
2003
34
Interleukin-6 and the development of social disruption-induced glucocorticoid resistance. (11958817)
2002
35
Increased urinary cortisol and androgen metabolites in a young female with hypertension: partial glucocorticoid resistance syndrome. (10894920)
2000
36
Glucocorticoid resistance in premature pubarche and adolescent hyperandrogenism. (10068517)
1999
37
Imbalanced expression of the glucocorticoid receptor isoforms in cultured lymphocytes from a patient with systemic glucocorticoid resistance and chronic lymphocytic leukemia. (9920778)
1999
38
Antiprogestins and iatrogenic glucocorticoid resistance. (9048964)
1997
39
Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. (9150737)
1997
40
Mechanisms of glucocorticoid resistance in human leukemic cells: implication of abnormal 90 and 70 kDa heat shock proteins. (8667658)
1996
41
Glucocorticoid receptor structure and function in glucocorticoid-resistant small cell lung carcinoma cells. (8764121)
1996
42
Glucocorticoid resistance. (7704706)
1994
43
Frequency of glucocorticoid resistance and dependency in Crohn's disease. (8150347)
1994
44
Hormone-nuclear receptor interactions in health and disease. Glucocorticoid resistance. (7980839)
1994
45
Dexamethasone therapy for isosexual precocious pseudopuberty caused by generalized glucocorticoid resistance. (7989467)
1994
46
Structure and function of the hepatic form of 11 beta-hydroxysteroid dehydrogenase in the squirrel monkey, an animal model of glucocorticoid resistance. (8319583)
1993
47
Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. (8445027)
1993
48
Regulation of glucocorticoid receptor expression in cultured fibroblasts from a patient with familial glucocorticoid resistance. (1659867)
1991
49
Glucocorticoid resistance in depression: the dexamethasone suppression test and lymphocyte sensitivity to dexamethasone. (6333828)
1984
50
Role of de novo DNA methylation in the glucocorticoid resistance of a T-lymphoid cell line. (6601244)
1983

Variations for Glucocorticoid Resistance

About this section

UniProtKB/Swiss-Prot genetic disease variations for Glucocorticoid Resistance:

64
id Symbol AA change Variation ID SNP ID
1NR3C1p.Phe737LeuVAR_071935
2NR3C1p.Leu773ProVAR_071936

Expression for genes affiliated with Glucocorticoid Resistance

About this section

Search GEO for disease gene expression data for Glucocorticoid Resistance.

Pathways for genes affiliated with Glucocorticoid Resistance

About this section

Pathways related to Glucocorticoid Resistance according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6NR3C1, FKBP5
2
Show member pathways
9.5BCL2L11, BCL2A1
3
Show member pathways
Apoptosis Modulation and Signaling38
Apoptosis38
9.5BCL2L11, BCL2A1
4
Show member pathways
Nuclear Receptors38
9.3NR2F2, NR3C1

Compounds for genes affiliated with Glucocorticoid Resistance

About this section

Compounds related to Glucocorticoid Resistance according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1dexamethasone sodium phosphate4510.0BCL2A1, NR3C1
2mirtazapine45 51 1311.9FKBP5, NR3C1
3cortisone acetate45 1310.9NR3C1, HSD11B2
411-dehydrocorticosterone45 2610.9NR3C1, HSD11B2
5cortisol30 2610.8NR3C1, HSD11B2
6doca459.8HSD11B2, NR3C1
7glycyrrhetinic acid45 2610.8HSD11B2, NR3C1
8glycyrrhizin45 3010.8NR3C1, HSD11B2
9betamethasone45 1310.8NR3C1, HSD11B2
10cortisone45 2610.8NR3C1, HSD11B2
11carbenoxolone45 30 1311.8NR3C1, HSD11B2
12spironolactone45 61 30 51 1313.8HSD11B2, NR3C1
13budesonide45 51 1311.7NR3C1, HSD11B2
14fluticasone propionate45 51 61 1312.7NR3C1, HSD11B2
1511beta-hydroxysteroid459.7HSD11B2, NR3C1
16progestin459.7FKBP5, NR3C1
17dhea459.7NR3C1, HSD11B2
18mg 13245 6110.6NR3C1, BCL2L11
19molybdate459.5NR3C1, BCL2A1, FKBP5
20prednisolone45 30 1311.5NR3C1, HSD11B2
21tacrolimus45 51 1311.5NR3C1, BCL2A1, FKBP5
22corticosterone45 61 2611.4HSD11B2, BCL2A1, NR3C1
23hydrocortisone45 3 61 1312.4HSD11B2, NR3C1
24acth459.4HSD11B2, BCL2A1, NR3C1
25rapamycin459.3NR3C1, BCL2L11, FKBP5
26cycloheximide459.2FKBP5, BCL2L11, NR3C1
27actinomycin d459.2HSD11B2, BCL2L11, NR3C1
28testosterone45 61 26 1312.2NR3C1, BCL2A1, FKBP5
29dihydrotestosterone45 30 26 1312.2NR3C1, HSD11B2
30mifepristone45 30 61 1311.9NR3C1, BCL2A1, FKBP5, HSD11B2
31serine458.6NR3C1, BCL2L11, BCL2A1, HSD11B2
32dexamethasone45 51 30 1311.4NR3C1, BCL2L11, BCL2A1, FKBP5, HSD11B2
33progesterone45 30 61 26 1312.1HSD11B2, FKBP5, BCL2A1, NR3C1, NR2F2
34steroid458.1HSD11B2, FKBP5, BCL2A1, NR3C1, NR2F2
35estrogen458.1HSD11B2, BCL2A1, BCL2L11, NR3C1, NR2F2

GO Terms for genes affiliated with Glucocorticoid Resistance

About this section

Cellular components related to Glucocorticoid Resistance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057419.5BCL2L11, BCL2A1

Biological processes related to Glucocorticoid Resistance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.5BCL2L11, BCL2A1
2extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.4BCL2L11, BCL2A1
3positive regulation of neuron apoptotic processGO:00435259.3NR3C1, BCL2L11

Molecular functions related to Glucocorticoid Resistance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid bindingGO:00054969.5NR3C1, HSD11B2

Products for genes affiliated with Glucocorticoid Resistance

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glucocorticoid Resistance

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet