MCID: GLC037
MIFTS: 46

Glucocorticoid Resistance malady

Reproductive, Endocrine, Fetal categories

Summaries for Glucocorticoid Resistance

Sources:
47OMIM, 33MalaCards
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MalaCards: Glucocorticoid Resistance is related to asthma and arthritis. 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 Mineralocorticoid biosynthesis and mTORC1-mediated signalling. The compounds cycloheximide and estrogen have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related mouse phenotypes are homeostasis/metabolism and endocrine/exocrine gland.

Description from OMIM:47 138040

Aliases & Classifications for Glucocorticoid Resistance

Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Reproductive, Endocrine


Characteristics (Orphanet epidemiological data):

49
glucocorticoid resistance:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

glucocorticoid resistance 43 49 47 61


External Ids:

ICD10 via Orphanet26 E25.8

Related Diseases for Glucocorticoid Resistance

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Glucocorticoid Resistance via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1asthma30.8CD28, MIF, NR3C1, STAT5A, HSD11B2, RPS6KB1
2arthritis30.3MIF
3acute undifferentiated leukemia30.0SET
4adenoma30.0HSD11B1, BCL2A1, NR2F2, STAT5A, MIF, HSD11B2
5t-cell leukemia30.0XIAP, CRAT, CD28, STAT5A
6acute leukemia10.6
7ulcerative colitis10.2
8n syndrome10.2
9acute lymphoblastic leukemia, childhood10.2
10systemic lupus erythematosus10.1
11small cell carcinoma10.1
12acute lymphocytic leukemia10.1
13thrombocytopenia10.1
14cortisol resistance10.1
15graft versus host disease10.0
16crohn's disease10.0
17major depressive disorder10.0
18acanthosis nigricans10.0
19sensorineural hearing loss10.0
20smooth muscle tumor10.0
21atopic dermatitis10.0
22acute t cell leukemia10.0
23hyperandrogenism10.0
24thymoma10.0
25allergic encephalomyelitis10.0
26young syndrome10.0
27familial hypertension10.0
28precocious puberty10.0
29growth hormone deficiency10.0
30prostate cancer 110.0
31leukemia, acute lymphocytic 110.0
32insulin resistance10.0
33ocular hypertension10.0NR3C1
34colorectal cancer10.0EIF4EBP1, XIAP
35myeloid leukemia10.0STAT5A, CRAT
36pituitary adenoma10.0MIF, NR3C1
37astrocytoma10.0CRAT
38apparent mineralocorticoid excess syndrome10.0HSD11B1, HSD11B2
39osteosarcoma10.0XIAP, NR3C1, BCL2A1, CRAT
40choriocarcinoma10.0CRAT, HSD11B2, STAT5A
41cushing's syndrome10.0NR3C1, HSD11B2
42hyperglycemia10.0HSD11B1, GRP, HSD11B2
43rheumatoid arthritis10.0CD28, MIF, HSD11B1, RPS6KB1, NR3C1
44endometriosis10.0NR2F2, MIF
45myopathy10.0CRAT
46alzheimer's disease10.0XIAP, MIF, RPS6KB1, SET, CRAT
47hepatocellular carcinoma10.0RPS6KB1, GRP, CRAT, NR3C1, XIAP
48inflammatory bowel disease10.0CD28, MIF, NR3C1, HSD11B1, HSD11B2
49polycystic ovary syndrome10.0HSD11B1
50insulinoma10.0CRAT, GRP, STAT5A

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



Diseases related to glucocorticoid resistance

Clinical Features for Glucocorticoid Resistance

Sources:
47OMIM
See all sources

Clinical features from OMIM:

138040

Clinical synopsis from OMIM:

138040

Drugs & Therapeutics for Glucocorticoid Resistance

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Glucocorticoid Resistance

Drug clinical trials:

Search ClinicalTrials for Glucocorticoid Resistance

Search NIH Clinical Center for Glucocorticoid Resistance

Search CenterWatch for Glucocorticoid Resistance

Genetic Tests for Glucocorticoid Resistance

Anatomical Context for Glucocorticoid Resistance

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Glucocorticoid Resistance:

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

Animal Models for Glucocorticoid Resistance or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Glucocorticoid Resistance

Sources:
51PubMed
See all sources

Articles related to Glucocorticoid Resistance:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
Inflammatory cellular phenotypes and molecular mechanisms of glucocorticoid resistance in patients with bronchial asthma. (23597084)
2013
2
Lack of association between NR3C1 polymorphism and glucocorticoid resistance in Chinese patients with immune thrombocytopenia. (23527567)
2013
3
Further characterization of human glucocorticoid receptor mutants, R477H and G679S, associated with primary generalized glucocorticoid resistance. (23391271)
2013
4
Src kinase-induced phosphorylation of annexin A2 mediates glucocorticoid resistance in MLL-rearranged infant acute lymphoblastic leukemia. (23334362)
2013
5
Low expression of glucocorticoid receptor alpha isoform in adult immune thrombocytopenia correlates with glucocorticoid resistance. (23435844)
2013
6
A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD. (23426617)
2013
7
Dynamic development of glucocorticoid resistance during autoimmune neuroinflammation. (22659246)
2012
8
Glucose can promote a glucocorticoid resistance state. (22260204)
2012
9
Current concepts in glucocorticoid resistance. (22728894)
2012
10
Variation in the glucocorticoid receptor gene (NR3C1) may be associated with corticosteroid dependency and resistance in children with Crohn's disease. (21633323)
2011
11
Role for microRNAs in regulating glucocorticoid response and resistance in multiple myeloma. (21761344)
2011
12
The zebrafish as an in vivo model system for glucocorticoid resistance. (20493895)
2010
13
Mechanisms and resistance in glucocorticoid control of inflammation. (20188830)
2010
14
Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1). (19933394)
2010
15
Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation. (20861124)
2010
16
The analysis of the factors influencing the development of glucocorticoid resistance in the etiopathogenesis of severe bronchial asthma]. (21473041)
2010
17
A new link between steroid resistance, glucocorticoid receptor and nuclear factor kappa B p65 in idiopathic nephrotic syndrome. (20035271)
2009
18
A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance. (17635946)
2007
19
Nuclear factor-kappaB- and glucocorticoid receptor alpha- mediated mechanisms in the regulation of systemic and pulmonary inflammation during sepsis and acute respiratory distress syndrome. Evidence for inflammation-induced target tissue resistance to glucocorticoids. (16557033)
2005
20
Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype. (15070967)
2004
21
Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms. (15265781)
2004
22
Phenotypical alterations induced by glucocorticoids resistance in RPMI 8226 human myeloma cells. (14687627)
2004
23
Expression of glucocorticoid resistance following social stress requires a second signal. (12960258)
2003
24
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. (11589680)
2001
25
Resistance to glucocorticoid feedback in obesity. (11549634)
2001
26
Social stress induces glucocorticoid resistance in macrophages. (11353685)
2001
27
High level resistance to glucocorticoids, associated with a dysfunctional glucocorticoid receptor, in childhood acute lymphoblastic leukemia cells selected for methotrexate resistance. (11417479)
2001
28
Estradiol inhibits glucocorticoid receptor expression and induces glucocorticoid resistance in MCF-7 human breast cancer cells. (11358672)
2001
29
Raised urinary glucocorticoid and adrenal androgen precursors in the urine of young hypertensive patients: possible evidence for partial glucocorticoid resistance. (11454825)
2001
30
Increased urinary cortisol and androgen metabolites in a young female with hypertension: partial glucocorticoid resistance syndrome. (10894920)
2000
31
Induction of resistance to active experimental allergic encephalomyelitis by myelin basic protein-specific Th2 cell lines generated in the presence of glucocorticoids and IL-4. (10741389)
2000
32
Glucocorticoid resistance in thymocytes from mice expressing a T cell receptor transgene. (11006105)
2000
33
Glucocorticoid resistance caused by reduced expression of the glucocorticoid receptor in cells from human vascular lesions. (10323768)
1999
34
Glucocorticoid resistance and the AP-1 transcription factor in leukaemia. (10500841)
1999
35
Low level of glucocorticoid receptor messenger ribonucleic acid in pituitary adenomas manifesting Cushing's disease with resistance to a high dose-dexamethasone suppression test. (9861319)
1998
36
Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. (9150737)
1997
37
Glucocorticoid feedback resistance. (18406783)
1997
38
Molecular mechanisms of glucocorticoid resistance. (8676040)
1996
39
Expression of hsp90 beta messenger ribonucleic acid in patients with familial glucocorticoid resistance--correlation to receptor status. (7734402)
1995
40
Glucocorticoid receptors and resistance to glucocorticoids in hematologic malignancies. (7873993)
1994
41
Glucocorticoid resistance. (8185139)
1994
42
A mutation of the glucocorticoid receptor in primary cortisol resistance. (7683692)
1993
43
bcl-2 gene transfer increases relative resistance of S49.1 and WEHI7.2 lymphoid cells to cell death and DNA fragmentation induced by glucocorticoids and multiple chemotherapeutic drugs. (1394146)
1992
44
Glucocorticoid receptor abnormalities in fibroblasts from patients with idiopathic resistance to dexamethasone diagnosed when evaluated for adrenocortical disorders. (1400864)
1992
45
Regulation of glucocorticoid receptor expression in cultured fibroblasts from a patient with familial glucocorticoid resistance. (1659867)
1991
46
Glucocorticoid resistance in chronic asthma. Glucocorticoid pharmacokinetics, glucocorticoid receptor characteristics, and inhibition of peripheral blood T cell proliferation by glucocorticoids in vitro. (1952426)
1991
47
Isolation and characterization of lymphosarcoma P1798 variants selected for resistance to the cytolytic effects of glucocorticoids in vivo and in culture. (6092172)
1984
48
Role of de novo DNA methylation in the glucocorticoid resistance of a T-lymphoid cell line. (6601244)
1983
49
Glucocorticoid binding properties of mouse thymic lymphosarcoma cell populations selected for resistance to the cytolytic effects of glucocorticoids in vivo. (6577232)
1983
50
Concanavalin A-induced glucocorticoid resistance in rat thymus cells: decreased cytoplasmic and nuclear receptor binding of dexamethasone. (1025360)
1976

Genetic Variations for Glucocorticoid Resistance

Expression for genes affiliated with Glucocorticoid Resistance

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Glucocorticoid Resistance

Search GEO for disease gene expression data for Glucocorticoid Resistance.

Pathways for genes affiliated with Glucocorticoid Resistance

Sources:
54Reactome, 38NCBI BioSystems Database, 53R&D Systems, 12EMD Millipore, 30KEGG, 52QIAGEN, 50PharmGKB
See all sources

Pathways related to Glucocorticoid Resistance according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3HSD11B2, HSD11B1
2
Hide members
10.3RPS6KB1, EIF4EBP1
310.3SET, NUP214
4
Hide members
10.3BCL2L11, BCL2A1, XIAP
510.3STAT5A, NR3C1, FKBP5
610.2BCL2L11, RPS6KB1, EIF4EBP1
7
Hide members
10.2RPS6KB1, EIF4EBP1, BCL2L11
8
Apoptosis and survival Caspase cascade
Hide members
10.2CASP8AP2, XIAP, BCL2L11
9
Hide members
10.2RPS6KB1, STAT5A, EIF4EBP1
10
Hide members
10.2STAT5A, EIF4EBP1, RPS6KB1
11
Development Prolactin receptor signaling
Hide members
10.2EIF4EBP1, NR3C1, STAT5A, RPS6KB1
1210.1BCL2L11, EIF4EBP1, STAT5A, RPS6KB1
13
Hide members
10.1BCL2L11, EIF4EBP1, STAT5A, RPS6KB1

Compounds for genes affiliated with Glucocorticoid Resistance

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Glucocorticoid Resistance according to GeneCards/GeneDecks:

(show top 50)    (show all 73)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.8FKBP5
2estrogen4510.8NR2F2, HSD11B1
3cortisone acetate45 1111.7HSD11B2, HSD11B1, NR3C1
411-dehydrocorticosterone45 2411.7HSD11B1, NR3C1, HSD11B2
5glucose4510.7XIAP, EIF4EBP1
6cortisol29 2411.7NR3C1, HSD11B1, HSD11B2
7estradiol45 11 2412.7RPS6KB1, XIAP, CRAT
8glycyrrhetinic acid45 2411.7NR3C1, HSD11B2, HSD11B1
9molybdate4510.6FKBP5, NR3C1, BCL2A1
10serine4510.6SET, MIF, EIF4EBP1, BCL2A1
11glycyrrhizin45 2911.6HSD11B1, HSD11B2, NR3C1
12dexamethasone sodium phosphate4510.6BCL2A1, NR3C1
13cortisone45 2411.6NR3C1, HSD11B1, HSD11B2
14mifepristone45 60 29 1113.6HSD11B2, HSD11B1, NR3C1, FKBP5, BCL2A1
15butyrate4510.6CRAT, NR3C1, HSD11B2
16carbenoxolone29 45 1112.5HSD11B2, HSD11B1, NR3C1
17tacrolimus45 50 1112.5RPS6KB1, FKBP5, NR3C1, BCL2A1, CD28
18corticosterone45 60 2412.5HSD11B2, NR3C1, HSD11B1, GRP, BCL2A1, MIF
19acth4510.5HSD11B1, NR3C1, GRP, MIF, BCL2A1, HSD11B2
20hydrocortisone45 2 60 1113.4HSD11B2, MIF, HSD11B1, STAT5A, NR3C1, GRP
21sb 20358045 6011.4NR3C1, STAT5A, RPS6KB1, BCL2L11, MIF
22paclitaxel45 50 1112.4EIF4EBP1, MIF, CRAT, XIAP, RPS6KB1, BCL2L11
23etoposide45 50 60 1113.4BCL2L11, NR3C1, STAT5A, CRAT, XIAP, GRP
24progesterone45 60 29 11 2414.3HSD11B2, HSD11B1, CRAT, STAT5A, NR2F2, NR3C1
25ly2940024510.3STAT5A, XIAP, RPS6KB1, CD28, EIF4EBP1, BCL2L11
26norepinephrine45 11 2412.3CRAT, HSD11B2, BCL2A1, MIF, GRP
27cisplatin45 50 60 1113.3CRAT, XIAP, RPS6KB1, GRP, NR3C1, EIF4EBP1
28actinomycin d4510.3NR3C1, BCL2L11, RPS6KB1, HSD11B2, GRP, EIF4EBP1
29ibmx45 29 6012.3PDE7A, CRAT, STAT5A, GRP
30dexamethasone45 50 29 1113.3FKBP5, BCL2A1, HSD11B2, GRP, NR3C1, XIAP
31steroid4510.3FKBP5, NR3C1, BCL2A1, MIF, NR2F2, STAT5A
32pd 98,0594510.3BCL2L11, EIF4EBP1, XIAP, STAT5A, RPS6KB1
33allotetrahydrocortisol4510.2HSD11B2, HSD11B1
34mg 13245 6011.2STAT5A, NR3C1, BCL2L11, XIAP
35oligonucleotide4510.2XIAP, PDE7A, BCL2L11, CD28, RPS6KB1, STAT5A
36h2o24510.2MIF, CRAT, EIF4EBP1, XIAP, RPS6KB1, BCL2L11
37vegf4510.2EIF4EBP1, RPS6KB1, XIAP, CRAT, STAT5A, GRP
38cyclic amp45 2411.2RPS6KB1, CRAT, STAT5A, GRP, PDE7A, CD28
39phosphatidylinositol4510.2EIF4EBP1, XIAP, GRP, CD28, BCL2L11, STAT5A
40rapamycin4510.2NR3C1, GRP, BCL2L11, FKBP5, STAT5A, XIAP
41wortmannin4510.2CD28, GRP, EIF4EBP1, STAT5A, RPS6KB1
42retinoic acid45 2411.2EIF4EBP1, CRAT, XIAP, RPS6KB1, STAT5A, NR2F2
43oxygen45 2411.1BCL2L11, STAT5A, CRAT, XIAP, HSD11B2, RPS6KB1
44testosterone45 60 11 2413.1FKBP5, HSD11B1, CRAT, NR3C1, GRP, BCL2A1
45lipid4510.1RPS6KB1, HSD11B2, HSD11B1, XIAP, NR2F2, EIF4EBP1
46doxorubicin45 50 1112.1XIAP, CRAT, NR3C1, GRP, MIF
47phosphoinositide4510.0CD28, RPS6KB1, EIF4EBP1, BCL2L11, GRP
48tyrosine4510.0MIF, RPS6KB1, XIAP, STAT5A, HSD11B1, NR2F2
4911beta-hydroxysteroid4510.0NR3C1, HSD11B1, HSD11B2
50calcium45 50 11 2413.0RPS6KB1, MIF, CD28, SET, BCL2A1, XIAP

GO Terms for genes affiliated with Glucocorticoid Resistance

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058299.6BCL2L11, XIAP, PDE7A, STAT5A, NR3C1, NUP214

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

idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:00670410.4HSD11B1, HSD11B2
2positive regulation of mitotic cell cycleGO:04593110.3EIF4EBP1, STAT5A, RPS6KB1
3TOR signaling cascadeGO:03192910.2RPS6KB1, EIF4EBP1
4apoptotic signaling pathwayGO:09719010.2BCL2L11, CD28, CASP8AP2
5signal transductionGO:00716510.0NR2F2, NR3C1, CASP8AP2, RPS6KB1, GRP, PDE7A
6positive regulation of interleukin-2 biosynthetic processGO:04508610.0STAT5A, CD28

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

idNameGO IDScoreTop Affiliating Genes
111-beta-hydroxysteroid dehydrogenase [NAD(P)] activityGO:00384510.0HSD11B1, HSD11B2
2protein bindingGO:0055159.4CASP8AP2, XIAP, STAT5A, NR2F2, NR3C1, MIF

Products for genes affiliated with Glucocorticoid Resistance

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Sources for Glucocorticoid Resistance

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet