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MCID: GLC106
MIFTS: 46

Glucocorticoid Resistance, Generalized

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Glucocorticoid Resistance, Generalized

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MalaCards integrated aliases for Glucocorticoid Resistance, Generalized:

Name: Glucocorticoid Resistance, Generalized 57 75 29 6
Glucocorticoid Resistance 57 53 59 75 40
Cortisol Resistance from Glucocorticoid Receptor Defect 57 53 75
Glucocorticoid Receptor Deficiency 57 75 73
Cortisol Resistance 75 13
Gccr Deficiency 57 75
Gcr Deficiency 57 75
Grl Deficiency 57 75
Gccr 57 75
Glucocorticoid Resistance Syndrome 37
Chrousos Syndrome 75
Gcres 75

Characteristics:

Orphanet epidemiological data:

59
glucocorticoid resistance
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
glucocorticoid resistance, generalized:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Glucocorticoid Resistance, Generalized

About this section
OMIM : 57 Generalized glucocorticoid resistance is an autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing syndrome. The clinical expression of the disease is variable. Common features include hypoglycemia, hypertension, and metabolic alkalosis. In females, overproduction of adrenal androgens has been associated with infertility, male-pattern baldness, hirsutism, and menstrual irregularities. Other features include chronic fatigue and profound anxiety (summary by Chrousos et al., 1983; Donner et al., 2013). (615962)

MalaCards based summary : Glucocorticoid Resistance, Generalized, also known as glucocorticoid resistance, is related to leukemia and lymphoblastic leukemia, and has symptoms including fatigue An important gene associated with Glucocorticoid Resistance, Generalized is NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1), and among its related pathways/superpathways is Neuroactive ligand-receptor interaction. The drugs Doxorubicin and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and testes, and related phenotypes are stroke and hirsutism

UniProtKB/Swiss-Prot : 75 Glucocorticoid resistance, generalized: An autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of Cushing syndrome typical signs. Clinical features include hypoglycemia, hypertension, metabolic alkalosis, chronic fatigue and profound anxiety.

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Related Diseases for Glucocorticoid Resistance, Generalized

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Diseases related to Glucocorticoid Resistance, Generalized via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 leukemia 10.4
2 lymphoblastic leukemia 10.3
3 leukemia, acute lymphoblastic 10.3
4 asthma 10.1
5 depression 9.9
6 rheumatoid arthritis 9.8
7 arthritis 9.8
8 systemic lupus erythematosus 9.8
9 thrombocytopenia 9.8
10 ulcerative colitis 9.8
11 inflammatory bowel disease 9.8
12 colitis 9.8
13 thrombocytopenia due to platelet alloimmunization 9.8
14 acute t cell leukemia 9.8
15 childhood leukemia 9.8
16 lupus erythematosus 9.8
17 leukemia, chronic lymphocytic 2 9.7
18 diabetes mellitus, noninsulin-dependent 9.7
19 leukemia, chronic lymphocytic 9.7
20 myeloma, multiple 9.7
21 acute lymphocytic leukemia 9.7
22 crohn's disease 9.7
23 hepatitis 9.7
24 nephrotic syndrome 9.7
25 leukemia, b-cell, chronic 9.7
26 acanthosis nigricans 9.5
27 breast cancer 9.5
28 prostate cancer 9.5
29 thrombocytopenic purpura, autoimmune 9.5
30 galactorrhea 9.5
31 dermatitis, atopic 9.5
32 major depressive disorder 9.5
33 fatty liver disease, nonalcoholic 1 9.5
34 graft-versus-host disease 9.5
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.5
36 acute lymphoblastic leukemia, childhood 9.5
37 small cell carcinoma 9.5
38 mucositis 9.5
39 sensorineural hearing loss 9.5
40 chronic leukemia 9.5
41 hyperandrogenism 9.5
42 prostatitis 9.5
43 phimosis 9.5
44 dermatitis 9.5
45 thymoma 9.5
46 purpura 9.5
47 pseudohypoparathyroidism 9.5
48 smooth muscle tumor 9.5
49 adenoma 9.5
50 evans' syndrome 9.5

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



Diseases related to Glucocorticoid Resistance, Generalized
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Symptoms & Phenotypes for Glucocorticoid Resistance, Generalized

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Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
hypoglycemia
slightly elevated 24-hour mean plasma cortisol
increased urinary free cortisol

Genitourinary Internal Genitalia Female:
infertility (in some patients)
menstrual irregularities (in some patients)

Skin Nails Hair Hair:
male-pattern baldness (in some females)
hirsutism (in some females)

Endocrine Features:
fatigue
hypoglycemia

Metabolic Features:
metabolic alkalosis

Neurologic Behavioral Psychiatric Manifestations:
anxiety (in some patients)


Clinical features from OMIM:

615962

Human phenotypes related to Glucocorticoid Resistance, Generalized:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stroke 59 32 very rare (1%) Very rare (<4-1%) HP:0001297
2 hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001007
3 decreased circulating aldosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004319
4 increased circulating cortisol level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003118
5 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
6 increased urinary cortisol level 59 32 hallmark (90%) Very frequent (99-80%) HP:0012030
7 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
8 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
9 oligomenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000876
10 acne 59 32 frequent (33%) Frequent (79-30%) HP:0001061
11 hypokalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002900
12 adrenal hyperplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008221
13 metabolic alkalosis 59 32 frequent (33%) Frequent (79-30%) HP:0200114
14 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
15 infertility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000789
16 oligospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000798
17 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
18 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
19 frontal balding 59 32 occasional (7.5%) Occasional (29-5%) HP:0002292
20 female pseudohermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0010458
21 abnormal testosterone level 59 Frequent (79-30%)
22 hypercortisolism 59 Occasional (29-5%)
23 anxiety 32 occasional (7.5%) HP:0000739
24 menstrual irregularities 32 occasional (7.5%) HP:0000858
25 abnormal serum testosterone level 32 frequent (33%) HP:0030087

UMLS symptoms related to Glucocorticoid Resistance, Generalized:


fatigue
Sources

Drugs & Therapeutics for Glucocorticoid Resistance, Generalized

About this section

Drugs for Glucocorticoid Resistance, Generalized (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 1 23214-92-8 31703
2
Everolimus Approved Phase 1 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
4
Pegaspargase Approved, Investigational Phase 1 130167-69-0
5
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865
6
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
7
Vincristine Approved, Investigational Phase 1 2068-78-2, 57-22-7 5978
8
Doxil Approved June 1999 Phase 1 31703
9 glucocorticoids Phase 1,Not Applicable
10 Hormone Antagonists Phase 1,Not Applicable
11 Hormones Phase 1,Not Applicable
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1,Not Applicable
13 Anti-Bacterial Agents Phase 1
14 Antibiotics, Antitubercular Phase 1
15 Antifungal Agents Phase 1
16 Anti-Infective Agents Phase 1
17 Anti-Inflammatory Agents Phase 1
18 Antimitotic Agents Phase 1
19 Antineoplastic Agents, Hormonal Phase 1
20 Antineoplastic Agents, Phytogenic Phase 1
21
asparaginase Phase 1
22 Immunosuppressive Agents Phase 1
23 Protective Agents Phase 1
24 razoxane Phase 1
25 Topoisomerase Inhibitors Phase 1
26
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
27
Racepinephrine Approved Not Applicable 329-65-7 838
28 Epinephryl borate Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Everolimus With Multiagent Re-Induction Chemotherapy in Pediatric Patients With ALL Active, not recruiting NCT01523977 Phase 1 Everolimus;Prednisone;Vincristine;PEG-Asparaginase;Doxorubicin;Dexrazoxane
2 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Unknown status NCT02810496 Not Applicable
3 Health Gatherings - For Your Health After Cancer Recruiting NCT03344757 Not Applicable
4 Stress Management Training for Healthy Aging Recruiting NCT02888600 Not Applicable

Search NIH Clinical Center for Glucocorticoid Resistance, Generalized

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Genetic Tests for Glucocorticoid Resistance, Generalized

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Genetic tests related to Glucocorticoid Resistance, Generalized:

# Genetic test Affiliating Genes
1 Glucocorticoid Resistance, Generalized 29 NR3C1
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Anatomical Context for Glucocorticoid Resistance, Generalized

About this section

MalaCards organs/tissues related to Glucocorticoid Resistance, Generalized:

41
T Cells, B Cells, Testes, Breast, Skin, Kidney, Brain
Sources

Publications for Glucocorticoid Resistance, Generalized

About this section

Articles related to Glucocorticoid Resistance, Generalized:

(show top 50) (show all 258)
# Title Authors Year
1
Network-based expression analysis reveals key genes related to glucocorticoid resistance in infant acute lymphoblastic leukemia. ( 27798768 )
2017
2
JAK/STAT pathway inhibition overcomes IL7-induced glucocorticoid resistance in a subset of human T-cell acute lymphoblastic leukemias. ( 28484265 )
2017
3
Why are depressed patients inflamed? A reflection on 20 years of research on depression, glucocorticoid resistance and inflammation. ( 28479211 )
2017
4
Glucocorticoid resistance as a major drive in sepsis pathology. ( 28479044 )
2017
5
Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes. ( 28742501 )
2017
6
MiR-124 contributes to glucocorticoid resistance in acute lymphoblastic leukemia by promoting proliferation, inhibiting apoptosis and targeting the glucocorticoid receptor. ( 28578002 )
2017
7
Low dose of 2-deoxy-D-glucose kills acute lymphoblastic leukemia cells and reverses glucocorticoid resistance via N-linked glycosylation inhibition under normoxia. ( 28415682 )
2017
8
Glucocorticoid resistance of migration and gene expression in a daughter MDA-MB-231 breast tumour cell line selected for high metastatic potential. ( 28262792 )
2017
9
Macrophage activation syndrome at the onset of glucocorticoid-resistant systemic lupus erythematosus: a case report. ( 28918421 )
2017
10
<i>Plasmodium berghei</i> NK65 in Combination with IFN-I^ Induces Endothelial Glucocorticoid Resistance<i>via</i>Sustained Activation of p38 and JNK. ( 29033931 )
2017
11
Mechanisms of Brain Glucocorticoid Resistance in Stress-Induced Psychopathologies. ( 28320277 )
2017
12
Relationship between expression of glucocorticoid receptor isoforms and glucocorticoid resistance in immune thrombocytopenia. ( 27077774 )
2016
13
Janus and PI3-kinases mediate glucocorticoid resistance in activated chronic leukemia cells. ( 27579615 )
2016
14
Inflammasome-mediated glucocorticoid resistance: The receptor rheostat. ( 27308575 )
2016
15
Prenatal SSRI alters the hormonal and behavioral responses to stress in female mice: Possible role for glucocorticoid resistance. ( 27283378 )
2016
16
Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance. ( 27086682 )
2016
17
Differential expression of GAS5 in rapamycin-induced reversion of glucocorticoid resistance. ( 27001230 )
2016
18
Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene. ( 27211791 )
2016
19
Cytokine-Induced Glucocorticoid Resistance from Eosinophil Activation: Protein Phosphatase 5 Modulation of Glucocorticoid Receptor Phosphorylation and Signaling. ( 27742828 )
2016
20
Glucocorticoid resistance in chronic diseases. ( 27643454 )
2016
21
Runx1 Orchestrates Sphingolipid Metabolism and Glucocorticoid Resistance in Lymphomagenesis. ( 27869314 )
2016
22
Three Novel Heterozygous Point Mutations of NR3C1 causing Glucocorticoid Resistance. ( 27120390 )
2016
23
Altered expression of autophagy-related genes might contribute to glucocorticoid resistance in precursor B-cell type acute lymphoblastic leukemia. ( 26947147 )
2016
24
Testicular Receptor-4: Novel Regulator of Glucocorticoid Resistance. ( 27253665 )
2016
25
Heterogeneity in mechanisms influencing glucocorticoid sensitivity: the need for a systems biology approach to treatment of glucocorticoid-resistant inflammation. ( 25596317 )
2015
26
Inhibition of autophagy overcomes glucocorticoid resistance in lymphoid malignant cells. ( 25778879 )
2015
27
Tumor suppressor IKZF1 mediates glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia. ( 26713593 )
2015
28
An emphasis on molecular mechanisms of anti-inflammatory effects and glucocorticoid resistance. ( 25503867 )
2015
29
Another step in understanding glucocorticoid resistance in critical illness. ( 26039432 )
2015
30
Thioimidazoline based compounds reverse glucocorticoid resistance in human acute lymphoblastic leukemia xenografts. ( 25967739 )
2015
31
MAPK signaling cascades mediate distinct glucocorticoid resistance mechanisms in pediatric leukemia. ( 26324703 )
2015
32
Targeting of the deubiquitinase USP9X attenuates B-cell acute lymphoblastic leukemia cell survival and overcomes glucocorticoid resistance. ( 25735983 )
2015
33
Changes of glucocorticoid receptor isoforms expression in acute lymphoblastic leukemia correlate with glucocorticoid resistance. ( 26062300 )
2015
34
Influence of glucocorticoid receptor gene NR3C1 646 C&amp;gt;G polymorphism on glucocorticoid resistance in asthmatics: a preliminary study. ( 26648776 )
2015
35
Quantitative proteomic analysis reveals maturation as a mechanism underlying glucocorticoid resistance in B lineage ALL and re-sensitization by JNK inhibition. ( 26310606 )
2015
36
Bortezomib Treatment can Overcome Glucocorticoid Resistance in Childhood B-cell Precursor Acute Lymphoblastic Leukemia Cell Lines. ( 25985447 )
2015
37
Modulation of glucocorticoid resistance in pediatric T-cell Acute Lymphoblastic Leukemia by increasing BIM expression with the PI3K/mTOR inhibitor BEZ235. ( 26080839 )
2015
38
Glucocorticoid receptor polymorphisms: Lack of association with glucocorticoid resistance among Chinese bullous disease patients. ( 25894104 )
2015
39
The NLRP3-CASP1 Inflammasome Induces Glucocorticoid Resistance in ALL. ( 25977218 )
2015
40
NALP3 inflammasome upregulation and CASP1 cleavage of the glucocorticoid receptor cause glucocorticoid resistance in leukemia cells. ( 25938942 )
2015
41
Loss of TBL1XR1 disrupts glucocorticoid receptor recruitment to chromatin and results in glucocorticoid resistance in a B-lymphoblastic leukemia model. ( 24895125 )
2014
42
Lymphocyte sensitivity assay as a marker for glucocorticoid resistance in lupus: report of two sisters with systemic lupus erythematosus. ( 24285097 )
2014
43
A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities. ( 24483153 )
2014
44
Glucocorticoid resistance in dialysis patients reduces long-term graft survival after kidney transplantation. ( 24746801 )
2014
45
Bioenergetic modulation overcomes glucocorticoid resistance in T-lineage acute lymphoblastic leukaemia. ( 24456076 )
2014
46
Multi-agent chemotherapy overcomes glucocorticoid resistance conferred by a BIM deletion polymorphism in pediatric acute lymphoblastic leukemia. ( 25090024 )
2014
47
Molecular Mechanisms of Repeated Social Defeat-Induced Glucocorticoid Resistance: Role of microRNA. ( 25317829 )
2014
48
Low-level laser therapy suppresses the oxidative stress-induced glucocorticoids resistance in U937 cells: relevance to cytokine secretion and histone deacetylase in alveolar macrophages. ( 24419178 )
2014
49
Piperlongumine inhibits the proliferation and survival of B-cell acute lymphoblastic leukemia cell lines irrespective of glucocorticoid resistance. ( 25193702 )
2014
50
Rheumatoid arthritis--a neuroendocrine immune disorder: glucocorticoid resistance, relative glucocorticoid deficiency, low-dose glucocorticoid therapy, and insulin resistance. ( 25611004 )
2014
Sources

Variations for Glucocorticoid Resistance, Generalized

About this section

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

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 NR3C1 p.Asp641Val VAR_004676 rs104893908
2 NR3C1 p.Val729Ile VAR_004677 rs1027058734Glucocorticoid
3 NR3C1 p.Arg477His VAR_013472 rs104893913
4 NR3C1 p.Gly679Ser VAR_013473 rs104893914
5 NR3C1 p.Ile559Asn VAR_015632 rs104893909
6 NR3C1 p.Ile747Met VAR_015633 rs104893910
7 NR3C1 p.Phe737Leu VAR_071935 rs121909727
8 NR3C1 p.Leu773Pro VAR_071936 rs104893912
9 NR3C1 p.Thr556Ile VAR_075800
10 NR3C1 p.Arg477Ser VAR_077143
11 NR3C1 p.Tyr478Cys VAR_077144
12 NR3C1 p.Leu672Pro VAR_077145

ClinVar genetic disease variations for Glucocorticoid Resistance, Generalized:

6
(show top 50) (show all 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR3C1 NM_001018077.1(NR3C1): c.1922A> T (p.Asp641Val) single nucleotide variant Pathogenic rs104893908 GRCh37 Chromosome 5, 142675126: 142675126
2 NR3C1 NM_001018077.1(NR3C1): c.1922A> T (p.Asp641Val) single nucleotide variant Pathogenic rs104893908 GRCh38 Chromosome 5, 143295561: 143295561
3 NR3C1 NM_000176.2(NR3C1): c.1891_1892+2delGAGT deletion Pathogenic rs587776832 GRCh38 Chromosome 5, 143298666: 143298669
4 NR3C1 NM_000176.2(NR3C1): c.1891_1892+2delGAGT deletion Pathogenic rs587776832 GRCh37 Chromosome 5, 142678231: 142678234
5 NR3C1 NM_001018077.1(NR3C1): c.1676T> A (p.Ile559Asn) single nucleotide variant Pathogenic rs104893909 GRCh37 Chromosome 5, 142680121: 142680121
6 NR3C1 NM_001018077.1(NR3C1): c.1676T> A (p.Ile559Asn) single nucleotide variant Pathogenic rs104893909 GRCh38 Chromosome 5, 143300556: 143300556
7 NR3C1 NM_001018077.1(NR3C1): c.2241T> G (p.Ile747Met) single nucleotide variant Pathogenic rs104893910 GRCh37 Chromosome 5, 142661547: 142661547
8 NR3C1 NM_001018077.1(NR3C1): c.2241T> G (p.Ile747Met) single nucleotide variant Pathogenic rs104893910 GRCh38 Chromosome 5, 143281982: 143281982
9 NR3C1 NM_001018077.1(NR3C1): c.2318T> C (p.Leu773Pro) single nucleotide variant Pathogenic rs104893912 GRCh37 Chromosome 5, 142661470: 142661470
10 NR3C1 NM_001018077.1(NR3C1): c.2318T> C (p.Leu773Pro) single nucleotide variant Pathogenic rs104893912 GRCh38 Chromosome 5, 143281905: 143281905
11 NR3C1 NM_001018077.1(NR3C1): c.1430G> A (p.Arg477His) single nucleotide variant Pathogenic rs104893913 GRCh37 Chromosome 5, 142689700: 142689700
12 NR3C1 NM_001018077.1(NR3C1): c.1430G> A (p.Arg477His) single nucleotide variant Pathogenic rs104893913 GRCh38 Chromosome 5, 143310135: 143310135
13 NR3C1 NM_001018077.1(NR3C1): c.2035G> A (p.Gly679Ser) single nucleotide variant Pathogenic rs104893914 GRCh37 Chromosome 5, 142662279: 142662279
14 NR3C1 NM_001018077.1(NR3C1): c.2035G> A (p.Gly679Ser) single nucleotide variant Pathogenic rs104893914 GRCh38 Chromosome 5, 143282714: 143282714
15 NR3C1 NM_001018077.1(NR3C1): c.2209T> C (p.Phe737Leu) single nucleotide variant Pathogenic rs121909727 GRCh37 Chromosome 5, 142661579: 142661579
16 NR3C1 NM_001018077.1(NR3C1): c.2209T> C (p.Phe737Leu) single nucleotide variant Pathogenic rs121909727 GRCh38 Chromosome 5, 143282014: 143282014
17 NR3C1 NM_001018077.1(NR3C1): c.68G> A (p.Arg23Lys) single nucleotide variant Likely benign rs6190 GRCh37 Chromosome 5, 142780337: 142780337
18 NR3C1 NM_001018077.1(NR3C1): c.68G> A (p.Arg23Lys) single nucleotide variant Likely benign rs6190 GRCh38 Chromosome 5, 143400772: 143400772
19 NR3C1 NM_001018077.1(NR3C1): c.*3759dupA duplication Uncertain significance rs772052566 GRCh37 Chromosome 5, 142657695: 142657695
20 NR3C1 NM_001018077.1(NR3C1): c.*3759dupA duplication Uncertain significance rs772052566 GRCh38 Chromosome 5, 143278130: 143278130
21 NR3C1 NM_001018077.1(NR3C1): c.*3431G> C single nucleotide variant Uncertain significance rs886060038 GRCh37 Chromosome 5, 142658023: 142658023
22 NR3C1 NM_001018077.1(NR3C1): c.*3431G> C single nucleotide variant Uncertain significance rs886060038 GRCh38 Chromosome 5, 143278458: 143278458
23 NR3C1 NM_001018077.1(NR3C1): c.*3076C> T single nucleotide variant Likely benign rs72542769 GRCh37 Chromosome 5, 142658378: 142658378
24 NR3C1 NM_001018077.1(NR3C1): c.*3076C> T single nucleotide variant Likely benign rs72542769 GRCh38 Chromosome 5, 143278813: 143278813
25 NR3C1 NM_001018077.1(NR3C1): c.*3046G> C single nucleotide variant Uncertain significance rs886060041 GRCh37 Chromosome 5, 142658408: 142658408
26 NR3C1 NM_001018077.1(NR3C1): c.*3046G> C single nucleotide variant Uncertain significance rs886060041 GRCh38 Chromosome 5, 143278843: 143278843
27 NR3C1 NM_001018077.1(NR3C1): c.*2873G> A single nucleotide variant Uncertain significance rs886060042 GRCh38 Chromosome 5, 143279016: 143279016
28 NR3C1 NM_001018077.1(NR3C1): c.*2873G> A single nucleotide variant Uncertain significance rs886060042 GRCh37 Chromosome 5, 142658581: 142658581
29 NR3C1 NM_001018077.1(NR3C1): c.*2601A> T single nucleotide variant Uncertain significance rs886060043 GRCh38 Chromosome 5, 143279288: 143279288
30 NR3C1 NM_001018077.1(NR3C1): c.*2601A> T single nucleotide variant Uncertain significance rs886060043 GRCh37 Chromosome 5, 142658853: 142658853
31 NR3C1 NM_001018077.1(NR3C1): c.*2188A> G single nucleotide variant Likely benign rs6193 GRCh38 Chromosome 5, 143279701: 143279701
32 NR3C1 NM_001018077.1(NR3C1): c.*2188A> G single nucleotide variant Likely benign rs6193 GRCh37 Chromosome 5, 142659266: 142659266
33 NR3C1 NM_001018077.1(NR3C1): c.*2056dupA duplication Uncertain significance rs886060046 GRCh37 Chromosome 5, 142659398: 142659398
34 NR3C1 NM_001018077.1(NR3C1): c.*2056dupA duplication Uncertain significance rs886060046 GRCh38 Chromosome 5, 143279833: 143279833
35 NR3C1 NM_001018077.1(NR3C1): c.*1245_*1248dupATGT duplication Uncertain significance rs10482710 GRCh37 Chromosome 5, 142660206: 142660209
36 NR3C1 NM_001018077.1(NR3C1): c.*1245_*1248dupATGT duplication Uncertain significance rs10482710 GRCh38 Chromosome 5, 143280641: 143280644
37 NR3C1 NM_001018077.1(NR3C1): c.*861_*868delACCTGCTG deletion Uncertain significance rs547184962 GRCh37 Chromosome 5, 142660586: 142660593
38 NR3C1 NM_001018077.1(NR3C1): c.*861_*868delACCTGCTG deletion Uncertain significance rs547184962 GRCh38 Chromosome 5, 143281021: 143281028
39 NR3C1 NM_001018077.1(NR3C1): c.*766_*769dupAAAA duplication Uncertain significance rs376203537 GRCh37 Chromosome 5, 142660685: 142660688
40 NR3C1 NM_001018077.1(NR3C1): c.*766_*769dupAAAA duplication Uncertain significance rs376203537 GRCh38 Chromosome 5, 143281120: 143281123
41 NR3C1 NM_001018077.1(NR3C1): c.*769dupA duplication Uncertain significance rs376203537 GRCh37 Chromosome 5, 142660685: 142660685
42 NR3C1 NM_001018077.1(NR3C1): c.*769dupA duplication Uncertain significance rs376203537 GRCh38 Chromosome 5, 143281120: 143281120
43 NR3C1 NM_001018077.1(NR3C1): c.*290A> C single nucleotide variant Likely benign rs72542758 GRCh37 Chromosome 5, 142661164: 142661164
44 NR3C1 NM_001018077.1(NR3C1): c.*290A> C single nucleotide variant Likely benign rs72542758 GRCh38 Chromosome 5, 143281599: 143281599
45 NR3C1 NM_001018077.1(NR3C1): c.*149T> C single nucleotide variant Uncertain significance rs886060059 GRCh37 Chromosome 5, 142661305: 142661305
46 NR3C1 NM_001018077.1(NR3C1): c.*149T> C single nucleotide variant Uncertain significance rs886060059 GRCh38 Chromosome 5, 143281740: 143281740
47 NR3C1 NM_001018077.1(NR3C1): c.2307C> G (p.Ile769Met) single nucleotide variant Uncertain significance rs886060060 GRCh37 Chromosome 5, 142661481: 142661481
48 NR3C1 NM_001018077.1(NR3C1): c.2307C> G (p.Ile769Met) single nucleotide variant Uncertain significance rs886060060 GRCh38 Chromosome 5, 143281916: 143281916
49 NR3C1 NM_001018077.1(NR3C1): c.2298T> C (p.Asn766=) single nucleotide variant Likely benign rs6196 GRCh37 Chromosome 5, 142661490: 142661490
50 NR3C1 NM_001018077.1(NR3C1): c.2298T> C (p.Asn766=) single nucleotide variant Likely benign rs6196 GRCh38 Chromosome 5, 143281925: 143281925
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Expression for Glucocorticoid Resistance, Generalized

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Search GEO for disease gene expression data for Glucocorticoid Resistance, Generalized.
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Pathways for Glucocorticoid Resistance, Generalized

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Pathways related to Glucocorticoid Resistance, Generalized according to KEGG:

37
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
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GO Terms for Glucocorticoid Resistance, Generalized

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Sources for Glucocorticoid Resistance, Generalized

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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