MCID: GLC037
MIFTS: 51

Glucocorticoid Resistance malady

Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Glucocorticoid Resistance

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MalaCards based summary: Glucocorticoid Resistance is related to myeloma and breast cancer, and has symptoms including 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.

Descriptions from OMIM:46 615962,138040

Aliases & Classifications for Glucocorticoid Resistance

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Glucocorticoid Resistance, Aliases & Descriptions:

Name: Glucocorticoid Resistance 42 46 48 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
glucocorticoid resistance:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


External Ids:

ICD10 via Orphanet26 E25.8
OMIM46 615962

Related Diseases for Glucocorticoid Resistance

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



Diseases related to glucocorticoid resistance

Symptoms for Glucocorticoid Resistance

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Symptoms by clinical synopsis from OMIM:

138040

Clinical features from OMIM:

615962,138040

HPO human phenotypes related to Glucocorticoid Resistance:

(show all 11)
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 hypertension HP:0000822
9 hypoglycemia HP:0001943
10 fatigue HP:0012378
11 metabolic alkalosis HP:0200114

Drugs & Therapeutics for Glucocorticoid Resistance

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Drug clinical trials:

Search ClinicalTrials for Glucocorticoid Resistance

Search NIH Clinical Center for Glucocorticoid Resistance

Genetic Tests for Glucocorticoid Resistance

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Anatomical Context for Glucocorticoid Resistance

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MalaCards organs/tissues related to Glucocorticoid Resistance:

32
Thyroid, T cells, Kidney, Skin, Testes, Smooth muscle, Spleen, Thymus, Brain, Lung, Breast, Prostate, B lymphoblasts, B cells, Pituitary

Animal Models for Glucocorticoid Resistance or affiliated genes

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MGI Mouse Phenotypes related to Glucocorticoid Resistance:

36
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

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Articles related to Glucocorticoid Resistance:

(show top 50)    (show all 213)
idTitleAuthorsYear
1
Glucocorticoid resistance in dialysis patients reduces long-term graft survival after kidney transplantation. (24746801)
2014
2
Multi-agent chemotherapy overcomes glucocorticoid resistance conferred by a BIM deletion polymorphism in pediatric acute lymphoblastic leukemia. (25090024)
2014
3
Loss of TBL1XR1 disrupts glucocorticoid receptor recruitment to chromatin and results in glucocorticoid resistance in a B-lymphoblastic leukemia model. (24895125)
2014
4
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
5
Inflammatory cellular phenotypes and molecular mechanisms of glucocorticoid resistance in patients with bronchial asthma. (23597084)
2013
6
Role of human papillomaviruses in persistent and glucocorticoid-resistant juvenile phimosis. (22471970)
2013
7
Elevated S100A8/S100A9 expression causes glucocorticoid resistance in MLL-rearranged infant acute lymphoblastic leukemia. (22282267)
2012
8
Glucocorticoid resistance in paediatric acute lymphoblastic leukaemia. (22050419)
2012
9
Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene. (21362280)
2011
10
Glucocorticoid receptor alpha isoform-selective regulation of antiapoptotic genes in osteosarcoma cells: a new mechanism for glucocorticoid resistance. (21527497)
2011
11
Super-high-dose methylprednisolone does not improve efficacy or induce glucocorticoid resistance in experimental allergic encephalomyelitis. (20616573)
2011
12
The zebrafish as an in vivo model system for glucocorticoid resistance. (20493895)
2010
13
Leukemia-initiating cells in human T-lymphoblastic leukemia exhibit glucocorticoid resistance. (20810926)
2010
14
Heterogeneity of glucocorticoid resistance in patients with bronchial asthma. (23675190)
2010
15
Glucocorticoid resistance in inflammatory diseases. (19482216)
2009
16
Interleukin-1 receptor type 1-deficient mice fail to develop social stress-associated glucocorticoid resistance in the spleen. (18037570)
2008
17
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
18
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
19
Primary glucocorticoid resistance syndrome presenting as pseudo-precocious puberty and galactorrhea]. (19024330)
2008
20
Divergent mechanisms of glucocorticoid resistance in experimental models of pediatric acute lymphoblastic leukemia. (17483364)
2007
21
A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance. (17635946)
2007
22
Glucocorticoid resistance. (17125454)
2006
23
Unsupervised proteome analysis of human leukaemia cells identifies the Valosin-containing protein as a putative marker for glucocorticoid resistance. (16541142)
2006
24
Glucocorticoid resistance syndrome: A diagnostic and therapeutic approach. (17161335)
2006
25
The physiology of human glucocorticoid receptor beta (hGRbeta) and glucocorticoid resistance. (16855130)
2006
26
Genetic variations in the glucocorticoid receptor gene are not related to glucocorticoid resistance in childhood acute lymphoblastic leukemia. (16115950)
2005
27
Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype. (15070967)
2004
28
Glucocorticoid-induced apoptosis and glucocorticoid resistance: molecular mechanisms and clinical relevance. (15243581)
2004
29
Molecular mechanisms of glucocorticoid resistance in splenocytes of socially stressed male mice. (12667647)
2003
30
Cell- and tIssue-specific effects of corticosteroids in relation to glucocorticoid resistance: examples from the brain. (12844331)
2003
31
Glucocorticoid resistance in childhood leukaemia: mechanisms and modulation. (12648060)
2003
32
Interleukin-6 and the development of social disruption-induced glucocorticoid resistance. (11958817)
2002
33
Increased urinary cortisol and androgen metabolites in a young female with hypertension: partial glucocorticoid resistance syndrome. (10894920)
2000
34
Glucocorticoid resistance in premature pubarche and adolescent hyperandrogenism. (10068517)
1999
35
Imbalanced expression of the glucocorticoid receptor isoforms in cultured lymphocytes from a patient with systemic glucocorticoid resistance and chronic lymphocytic leukemia. (9920778)
1999
36
Glucocorticoid resistance caused by reduced expression of the glucocorticoid receptor in cells from human vascular lesions. (10323768)
1999
37
Antiprogestins and iatrogenic glucocorticoid resistance. (9048964)
1997
38
Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. (9150737)
1997
39
Mechanisms of glucocorticoid resistance in human leukemic cells: implication of abnormal 90 and 70 kDa heat shock proteins. (8667658)
1996
40
Glucocorticoid receptor structure and function in glucocorticoid-resistant small cell lung carcinoma cells. (8764121)
1996
41
Glucocorticoid resistance. (7704706)
1994
42
Frequency of glucocorticoid resistance and dependency in Crohn's disease. (8150347)
1994
43
Hormone-nuclear receptor interactions in health and disease. Glucocorticoid resistance. (7980839)
1994
44
Dexamethasone therapy for isosexual precocious pseudopuberty caused by generalized glucocorticoid resistance. (7989467)
1994
45
Structure and function of the hepatic form of 11 beta-hydroxysteroid dehydrogenase in the squirrel monkey, an animal model of glucocorticoid resistance. (8319583)
1993
46
Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. (8445027)
1993
47
Regulation of glucocorticoid receptor expression in cultured fibroblasts from a patient with familial glucocorticoid resistance. (1659867)
1991
48
Glucocorticoid resistance in depression: the dexamethasone suppression test and lymphocyte sensitivity to dexamethasone. (6333828)
1984
49
Role of de novo DNA methylation in the glucocorticoid resistance of a T-lymphoid cell line. (6601244)
1983
50
Concanavalin A-induced glucocorticoid resistance in rat thymus cells: decreased cytoplasmic and nuclear receptor binding of dexamethasone. (1025360)
1976

Variations for Glucocorticoid Resistance

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Expression for genes affiliated with Glucocorticoid Resistance

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Expression patterns in normal tissues for genes affiliated with Glucocorticoid Resistance

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Pathways for genes affiliated with Glucocorticoid Resistance

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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 Signaling37
Apoptosis37
9.5BCL2L11, BCL2A1
4
Show member pathways
Nuclear Receptors37
9.3NR2F2, NR3C1

Compounds for genes affiliated with Glucocorticoid Resistance

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Compounds related to Glucocorticoid Resistance according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1dexamethasone sodium phosphate4410.0BCL2A1, NR3C1
2mirtazapine44 50 1111.9FKBP5, NR3C1
3cortisone acetate44 1110.9NR3C1, HSD11B2
411-dehydrocorticosterone44 2410.9NR3C1, HSD11B2
5cortisol28 2410.8NR3C1, HSD11B2
6doca449.8HSD11B2, NR3C1
7glycyrrhetinic acid44 2410.8HSD11B2, NR3C1
8glycyrrhizin44 2810.8NR3C1, HSD11B2
9betamethasone44 1110.8NR3C1, HSD11B2
10cortisone44 2410.8NR3C1, HSD11B2
11carbenoxolone44 28 1111.8NR3C1, HSD11B2
12spironolactone44 61 28 50 1113.8HSD11B2, NR3C1
13budesonide44 50 1111.7NR3C1, HSD11B2
14fluticasone propionate44 50 61 1112.7NR3C1, HSD11B2
1511beta-hydroxysteroid449.7HSD11B2, NR3C1
16progestin449.7FKBP5, NR3C1
17dhea449.7NR3C1, HSD11B2
18mg 13244 6110.6NR3C1, BCL2L11
19molybdate449.5NR3C1, BCL2A1, FKBP5
20prednisolone44 28 1111.5NR3C1, HSD11B2
21tacrolimus44 50 1111.5NR3C1, BCL2A1, FKBP5
22corticosterone44 61 2411.4HSD11B2, BCL2A1, NR3C1
23hydrocortisone44 2 61 1112.4HSD11B2, NR3C1
24acth449.4HSD11B2, BCL2A1, NR3C1
25rapamycin449.3NR3C1, BCL2L11, FKBP5
26cycloheximide449.2FKBP5, BCL2L11, NR3C1
27actinomycin d449.2HSD11B2, BCL2L11, NR3C1
28testosterone44 61 24 1112.2NR3C1, BCL2A1, FKBP5
29dihydrotestosterone44 28 24 1112.2NR3C1, HSD11B2
30mifepristone44 28 61 1111.9NR3C1, BCL2A1, FKBP5, HSD11B2
31serine448.6NR3C1, BCL2L11, BCL2A1, HSD11B2
32dexamethasone44 50 28 1111.4NR3C1, BCL2L11, BCL2A1, FKBP5, HSD11B2
33progesterone44 28 61 24 1112.1HSD11B2, FKBP5, BCL2A1, NR3C1, NR2F2
34steroid448.1HSD11B2, FKBP5, BCL2A1, NR3C1, NR2F2
35estrogen448.1HSD11B2, BCL2A1, BCL2L11, NR3C1, NR2F2

GO Terms for genes affiliated with Glucocorticoid Resistance

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.5BCL2L11, BCL2A1

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

idNameGO IDScoreTop Affiliating Genes
1intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.5BCL2L11, BCL2A1
2extrinsic apoptotic signaling pathway in absence of ligandGO:0971929.4BCL2L11, BCL2A1
3positive regulation of neuron apoptotic processGO:0435259.3NR3C1, BCL2L11

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

idNameGO IDScoreTop Affiliating Genes
1steroid bindingGO:0054969.5NR3C1, HSD11B2

Products for genes affiliated with Glucocorticoid Resistance

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Sources for Glucocorticoid Resistance

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet