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GCCR
MCID: GLC106
MIFTS: 46

Glucocorticoid Resistance, Generalized (GCCR)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Reproductive 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 58 76 30 6
Glucocorticoid Resistance 58 54 60 76 41
Cortisol Resistance from Glucocorticoid Receptor Defect 58 54 76
Glucocorticoid Receptor Deficiency 58 76 74
Cortisol Resistance 76 13
Gccr Deficiency 58 76
Gcr Deficiency 58 76
Grl Deficiency 58 76
Gccr 58 76
Glucocorticoid Resistance Syndrome 38
Chrousos Syndrome 76
Gcres 76

Characteristics:

Orphanet epidemiological data:

60
glucocorticoid resistance
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
glucocorticoid resistance, generalized:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Reproductive diseases Endocrine diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Glucocorticoid Resistance, Generalized

About this section
OMIM : 58 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 lymphocytic 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 Budesonide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and skin, and related phenotypes are fatigue and increased urinary cortisol level

UniProtKB/Swiss-Prot : 76 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 65)
# Related Disease Score Top Affiliating Genes
1 leukemia 10.5
2 lymphocytic leukemia 10.5
3 leukemia, acute lymphoblastic 10.4
4 asthma 10.2
5 acute lymphocytic leukemia 10.1
6 systemic lupus erythematosus 10.0
7 depression 10.0
8 rheumatoid arthritis 10.0
9 arthritis 10.0
10 lupus erythematosus 10.0
11 acute lymphoblastic leukemia, childhood 9.9
12 thrombocytopenia 9.9
13 ulcerative colitis 9.9
14 inflammatory bowel disease 9.9
15 colitis 9.9
16 thrombocytopenia due to platelet alloimmunization 9.9
17 acute t cell leukemia 9.9
18 childhood leukemia 9.9
19 leukemia, chronic lymphocytic 2 9.8
20 diabetes mellitus, noninsulin-dependent 9.8
21 leukemia, chronic lymphocytic 9.8
22 myeloma, multiple 9.8
23 crohn's disease 9.8
24 nephrotic syndrome 9.8
25 leukemia, b-cell, chronic 9.8
26 aging 9.7
27 acquired immunodeficiency syndrome 9.7
28 acanthosis nigricans 9.7
29 breast cancer 9.7
30 prostate cancer 9.7
31 temporal arteritis 9.7
32 thrombocytopenic purpura, autoimmune 9.7
33 takayasu arteritis 9.7
34 enterocolitis 9.7
35 galactorrhea 9.7
36 thymoma, familial 9.7
37 prostate cancer, hereditary, 8 9.7
38 dermatitis, atopic 9.7
39 major depressive disorder 9.7
40 prostate cancer, hereditary, 6 9.7
41 fatty liver disease, nonalcoholic 1 9.7
42 graft-versus-host disease 9.7
43 autoinflammation with infantile enterocolitis 9.7
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
45 small cell carcinoma 9.7
46 sensorineural hearing loss 9.7
47 chronic leukemia 9.7
48 hyperandrogenism 9.7
49 conn's syndrome 9.7
50 uveitis 9.7

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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Human phenotypes related to Glucocorticoid Resistance, Generalized:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
2 increased urinary cortisol level 60 33 hallmark (90%) Very frequent (99-80%) HP:0012030
3 decreased circulating aldosterone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0004319
4 increased circulating acth level 60 33 hallmark (90%) Very frequent (99-80%) HP:0003154
5 increased circulating cortisol level 60 33 hallmark (90%) Very frequent (99-80%) HP:0003118
6 hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001007
7 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
8 hypokalemia 60 33 frequent (33%) Frequent (79-30%) HP:0002900
9 acne 60 33 frequent (33%) Frequent (79-30%) HP:0001061
10 adrenal hyperplasia 60 33 frequent (33%) Frequent (79-30%) HP:0008221
11 metabolic alkalosis 60 33 frequent (33%) Frequent (79-30%) HP:0200114
12 oligomenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000876
13 abnormal serum testosterone level 33 frequent (33%) HP:0030087
14 precocious puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000826
15 hypoglycemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001943
16 female pseudohermaphroditism 60 33 occasional (7.5%) Occasional (29-5%) HP:0010458
17 ambiguous genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000062
18 infertility 60 33 occasional (7.5%) Occasional (29-5%) HP:0000789
19 oligospermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000798
20 frontal balding 60 33 occasional (7.5%) Occasional (29-5%) HP:0002292
21 anxiety 33 occasional (7.5%) HP:0000739
22 menstrual irregularities 33 occasional (7.5%) HP:0000858
23 stroke 60 33 very rare (1%) Very rare (<4-1%) HP:0001297
24 hypercortisolism 60 Occasional (29-5%)
25 abnormal testosterone level 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Glucocorticoid Resistance, Generalized:


fatigue
Sources

Drugs & Therapeutics for Glucocorticoid Resistance, Generalized

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4 51333-22-3 63006 5281004
2 Hormones Phase 4,Phase 1,Not Applicable
3 Hormone Antagonists Phase 4,Phase 1,Not Applicable
4 glucocorticoids Phase 4,Phase 1,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Not Applicable
6 Peripheral Nervous System Agents Phase 4
7 Anti-Inflammatory Agents Phase 4,Phase 1
8 Anti-Asthmatic Agents Phase 4
9 Autonomic Agents Phase 4
10 Bronchodilator Agents Phase 4
11 Respiratory System Agents Phase 4
12
Everolimus Approved Phase 1 159351-69-6 6442177 70789204
13
Doxorubicin Approved, Investigational Phase 1 23214-92-8 31703
14
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
15
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 6436030 5284616
16
Pegaspargase Approved, Investigational Phase 1 130167-69-0
17
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865
18
Vincristine Approved, Investigational Phase 1 2068-78-2, 57-22-7 5978
19
Doxil Approved June 1999 Phase 1 31703
20 Protective Agents Phase 1
21 Antineoplastic Agents, Phytogenic Phase 1
22 Antifungal Agents Phase 1
23 razoxane Phase 1
24 Antineoplastic Agents, Hormonal Phase 1
25 Immunologic Factors Phase 1
26 Topoisomerase Inhibitors Phase 1
27 Antibiotics, Antitubercular Phase 1
28 Antimitotic Agents Phase 1
29 Cardiotonic Agents Phase 1
30 Anti-Infective Agents Phase 1
31 Immunosuppressive Agents Phase 1
32
asparaginase Phase 1
33 Anti-Bacterial Agents Phase 1
34
Racepinephrine Approved Not Applicable 329-65-7 838
35
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
36 Epinephryl borate Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diesel Exhaust Induces Glucocorticoid Resistance Recruiting NCT03615742 Phase 4 Budesonide
2 Exploring the Effects of Corticosteroids on the Human Hippocampus Not yet recruiting NCT03896659 Phase 4 Hydrocortisone Oral;Placebo Oral Tablet
3 Everolimus With Multiagent Re-Induction Chemotherapy in Pediatric Patients With ALL Active, not recruiting NCT01523977 Phase 1 Everolimus;Prednisone;Vincristine;PEG-Asparaginase;Doxorubicin;Dexrazoxane
4 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Unknown status NCT02810496 Not Applicable
5 Health Gatherings - For Your Health After Cancer Recruiting NCT03344757 Not Applicable
6 Stress Management Training for Healthy Aging Recruiting NCT02888600 Not Applicable

Search NIH Clinical Center for Glucocorticoid Resistance, Generalized

Sources

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 30 NR3C1
Sources

Anatomical Context for Glucocorticoid Resistance, Generalized

About this section

MalaCards organs/tissues related to Glucocorticoid Resistance, Generalized:

42
T Cells, B Cells, Skin, Brain, Kidney, Testes, Breast
Sources

Publications for Glucocorticoid Resistance, Generalized

About this section

Articles related to Glucocorticoid Resistance, Generalized:

(show top 50) (show all 247)
# Title Authors Year
1
Akt2 mediates glucocorticoid resistance in lymphoid malignancies through FoxO3a/Bim axis and serves as a direct target for resistance reversal. ( 30598523 )
2019
2
Glucocorticoid Resistance in Acute Lymphoblastic Leukemia: BIM Finally. ( 30537507 )
2018
3
Lymphocyte-Specific Chromatin Accessibility Pre-determines Glucocorticoid Resistance in Acute Lymphoblastic Leukemia. ( 30537513 )
2018
4
A semantics-oriented computational approach to investigate microRNA regulation on glucocorticoid resistance in pediatric acute lymphoblastic leukemia. ( 30066657 )
2018
5
Molecular mechanisms of glucocorticoid resistance in systemic lupus erythematosus: A review. ( 30125579 )
2018
6
ENO2 Promotes Cell Proliferation, Glycolysis, and Glucocorticoid-Resistance in Acute Lymphoblastic Leukemia. ( 29689546 )
2018
7
Development of glucocorticoid resistance over one year among mothers of children newly diagnosed with cancer. ( 29269321 )
2018
8
Corticosterone Production during Repeated Social Defeat Causes Monocyte Mobilization from the Bone Marrow, Glucocorticoid Resistance, and Neurovascular Adhesion Molecule Expression. ( 29382712 )
2018
9
Progesterone attenuates airway remodeling and glucocorticoid resistance in a murine model of exposing to ozone. ( 29501934 )
2018
10
An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature. ( 29510671 )
2018
11
Molecular changes during TGFβ-mediated lung fibroblast-myofibroblast differentiation: implication for glucocorticoid resistance. ( 29654633 )
2018
12
Bilateral adrenal hyperplasia and NR3C1 mutations causing glucocorticoid resistance: Is there an association? ( 30006372 )
2018
13
Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation. ( 30158362 )
2018
14
Disease and treatment associated acquired glucocorticoid resistance. ( 30352419 )
2018
15
Cushing's syndrome with no clinical stigmata - a variant of glucocorticoid resistance syndrome. ( 30598838 )
2018
16
Network-based expression analysis reveals key genes related to glucocorticoid resistance in infant acute lymphoblastic leukemia. ( 27798768 )
2017
17
JAK/STAT pathway inhibition overcomes IL7-induced glucocorticoid resistance in a subset of human T-cell acute lymphoblastic leukemias. ( 28484265 )
2017
18
Why are depressed patients inflamed? A reflection on 20 years of research on depression, glucocorticoid resistance and inflammation. ( 28479211 )
2017
19
Glucocorticoid resistance as a major drive in sepsis pathology. ( 28479044 )
2017
20
Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes. ( 28742501 )
2017
21
MiR-124 contributes to glucocorticoid resistance in acute lymphoblastic leukemia by promoting proliferation, inhibiting apoptosis and targeting the glucocorticoid receptor. ( 28578002 )
2017
22
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
23
Glucocorticoid resistance of migration and gene expression in a daughter MDA-MB-231 breast tumour cell line selected for high metastatic potential. ( 28262792 )
2017
24
<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
25
Mechanisms of Brain Glucocorticoid Resistance in Stress-Induced Psychopathologies. ( 28320277 )
2017
26
Glucocorticoid resistance is reverted by LCK inhibition in pediatric T-cell acute lymphoblastic leukemia. ( 29101238 )
2017
27
LPS regulates the expression of glucocorticoid receptor α and β isoforms and induces a selective glucocorticoid resistance in vitro. ( 29075152 )
2017
28
Splenic glucocorticoid resistance following psychosocial stress requires physical injury. ( 29146967 )
2017
29
Relationship between expression of glucocorticoid receptor isoforms and glucocorticoid resistance in immune thrombocytopenia. ( 27077774 )
2016
30
Janus and PI3-kinases mediate glucocorticoid resistance in activated chronic leukemia cells. ( 27579615 )
2016
31
Inflammasome-mediated glucocorticoid resistance: The receptor rheostat. ( 27308575 )
2016
32
Prenatal SSRI alters the hormonal and behavioral responses to stress in female mice: Possible role for glucocorticoid resistance. ( 27283378 )
2016
33
Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance. ( 27086682 )
2016
34
Differential expression of GAS5 in rapamycin-induced reversion of glucocorticoid resistance. ( 27001230 )
2016
35
Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene. ( 27211791 )
2016
36
Cytokine-Induced Glucocorticoid Resistance from Eosinophil Activation: Protein Phosphatase 5 Modulation of Glucocorticoid Receptor Phosphorylation and Signaling. ( 27742828 )
2016
37
Glucocorticoid resistance in chronic diseases. ( 27643454 )
2016
38
Runx1 Orchestrates Sphingolipid Metabolism and Glucocorticoid Resistance in Lymphomagenesis. ( 27869314 )
2016
39
Three Novel Heterozygous Point Mutations of NR3C1 causing Glucocorticoid Resistance. ( 27120390 )
2016
40
Altered expression of autophagy-related genes might contribute to glucocorticoid resistance in precursor B-cell type acute lymphoblastic leukemia. ( 26947147 )
2016
41
Testicular Receptor-4: Novel Regulator of Glucocorticoid Resistance. ( 27253665 )
2016
42
Inhibition of autophagy overcomes glucocorticoid resistance in lymphoid malignant cells. ( 25778879 )
2015
43
Tumor suppressor IKZF1 mediates glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia. ( 26713593 )
2015
44
An emphasis on molecular mechanisms of anti-inflammatory effects and glucocorticoid resistance. ( 25503867 )
2015
45
Another step in understanding glucocorticoid resistance in critical illness. ( 26039432 )
2015
46
Thioimidazoline based compounds reverse glucocorticoid resistance in human acute lymphoblastic leukemia xenografts. ( 25967739 )
2015
47
MAPK signaling cascades mediate distinct glucocorticoid resistance mechanisms in pediatric leukemia. ( 26324703 )
2015
48
Targeting of the deubiquitinase USP9X attenuates B-cell acute lymphoblastic leukemia cell survival and overcomes glucocorticoid resistance. ( 25735983 )
2015
49
Changes of glucocorticoid receptor isoforms expression in acute lymphoblastic leukemia correlate with glucocorticoid resistance. ( 26062300 )
2015
50
Influence of glucocorticoid receptor gene NR3C1 646 C&amp;gt;G polymorphism on glucocorticoid resistance in asthmatics: a preliminary study. ( 26648776 )
2015
Sources

Variations for Glucocorticoid Resistance, Generalized

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

76 (show all 12)
# Symbol AA change Variation ID SNP ID
1 NR3C1 p.Asp641Val VAR_004676 rs104893908
2 NR3C1 p.Val729Ile VAR_004677 rs102705873
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 150)
# 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.1088A> G (p.Asn363Ser) single nucleotide variant Likely benign rs56149945 GRCh37 Chromosome 5, 142779317: 142779317
6 NR3C1 NM_001018077.1(NR3C1): c.1088A> G (p.Asn363Ser) single nucleotide variant Likely benign rs56149945 GRCh38 Chromosome 5, 143399752: 143399752
7 NR3C1 NM_001018077.1(NR3C1): c.1676T> A (p.Ile559Asn) single nucleotide variant Pathogenic rs104893909 GRCh37 Chromosome 5, 142680121: 142680121
8 NR3C1 NM_001018077.1(NR3C1): c.1676T> A (p.Ile559Asn) single nucleotide variant Pathogenic rs104893909 GRCh38 Chromosome 5, 143300556: 143300556
9 NR3C1 NM_001018077.1(NR3C1): c.2241T> G (p.Ile747Met) single nucleotide variant Pathogenic rs104893910 GRCh37 Chromosome 5, 142661547: 142661547
10 NR3C1 NM_001018077.1(NR3C1): c.2241T> G (p.Ile747Met) single nucleotide variant Pathogenic rs104893910 GRCh38 Chromosome 5, 143281982: 143281982
11 NR3C1 NM_001018077.1(NR3C1): c.66G> A (p.Glu22=) single nucleotide variant Likely benign rs6189 GRCh37 Chromosome 5, 142780339: 142780339
12 NR3C1 NM_001018077.1(NR3C1): c.66G> A (p.Glu22=) single nucleotide variant Likely benign rs6189 GRCh38 Chromosome 5, 143400774: 143400774
13 NR3C1 NM_001018077.1(NR3C1): c.2318T> C (p.Leu773Pro) single nucleotide variant Pathogenic rs104893912 GRCh37 Chromosome 5, 142661470: 142661470
14 NR3C1 NM_001018077.1(NR3C1): c.2318T> C (p.Leu773Pro) single nucleotide variant Pathogenic rs104893912 GRCh38 Chromosome 5, 143281905: 143281905
15 NR3C1 NM_001018077.1(NR3C1): c.1430G> A (p.Arg477His) single nucleotide variant Pathogenic rs104893913 GRCh37 Chromosome 5, 142689700: 142689700
16 NR3C1 NM_001018077.1(NR3C1): c.1430G> A (p.Arg477His) single nucleotide variant Pathogenic rs104893913 GRCh38 Chromosome 5, 143310135: 143310135
17 NR3C1 NM_001018077.1(NR3C1): c.2035G> A (p.Gly679Ser) single nucleotide variant Pathogenic rs104893914 GRCh37 Chromosome 5, 142662279: 142662279
18 NR3C1 NM_001018077.1(NR3C1): c.2035G> A (p.Gly679Ser) single nucleotide variant Pathogenic rs104893914 GRCh38 Chromosome 5, 143282714: 143282714
19 NR3C1 NM_001018077.1(NR3C1): c.2209T> C (p.Phe737Leu) single nucleotide variant Pathogenic rs121909727 GRCh37 Chromosome 5, 142661579: 142661579
20 NR3C1 NM_001018077.1(NR3C1): c.2209T> C (p.Phe737Leu) single nucleotide variant Pathogenic rs121909727 GRCh38 Chromosome 5, 143282014: 143282014
21 NR3C1 NM_001018077.1(NR3C1): c.68G> A (p.Arg23Lys) single nucleotide variant Likely benign rs6190 GRCh37 Chromosome 5, 142780337: 142780337
22 NR3C1 NM_001018077.1(NR3C1): c.68G> A (p.Arg23Lys) single nucleotide variant Likely benign rs6190 GRCh38 Chromosome 5, 143400772: 143400772
23 NR3C1 NM_001018077.1(NR3C1): c.*3759dupA duplication Uncertain significance rs772052566 GRCh37 Chromosome 5, 142657695: 142657695
24 NR3C1 NM_001018077.1(NR3C1): c.*3759dupA duplication Uncertain significance rs772052566 GRCh38 Chromosome 5, 143278130: 143278130
25 NR3C1 NM_001018077.1(NR3C1): c.*3431G> C single nucleotide variant Uncertain significance rs886060038 GRCh37 Chromosome 5, 142658023: 142658023
26 NR3C1 NM_001018077.1(NR3C1): c.*3431G> C single nucleotide variant Uncertain significance rs886060038 GRCh38 Chromosome 5, 143278458: 143278458
27 NR3C1 NM_001018077.1(NR3C1): c.*3076C> T single nucleotide variant Likely benign rs72542769 GRCh37 Chromosome 5, 142658378: 142658378
28 NR3C1 NM_001018077.1(NR3C1): c.*3076C> T single nucleotide variant Likely benign rs72542769 GRCh38 Chromosome 5, 143278813: 143278813
29 NR3C1 NM_001018077.1(NR3C1): c.*3046G> C single nucleotide variant Uncertain significance rs886060041 GRCh37 Chromosome 5, 142658408: 142658408
30 NR3C1 NM_001018077.1(NR3C1): c.*3046G> C single nucleotide variant Uncertain significance rs886060041 GRCh38 Chromosome 5, 143278843: 143278843
31 NR3C1 NM_001018077.1(NR3C1): c.*2873G> A single nucleotide variant Uncertain significance rs886060042 GRCh37 Chromosome 5, 142658581: 142658581
32 NR3C1 NM_001018077.1(NR3C1): c.*2873G> A single nucleotide variant Uncertain significance rs886060042 GRCh38 Chromosome 5, 143279016: 143279016
33 NR3C1 NM_001018077.1(NR3C1): c.*2601A> T single nucleotide variant Uncertain significance rs886060043 GRCh38 Chromosome 5, 143279288: 143279288
34 NR3C1 NM_001018077.1(NR3C1): c.*2601A> T single nucleotide variant Uncertain significance rs886060043 GRCh37 Chromosome 5, 142658853: 142658853
35 NR3C1 NM_001018077.1(NR3C1): c.*2188A> G single nucleotide variant Likely benign rs6193 GRCh38 Chromosome 5, 143279701: 143279701
36 NR3C1 NM_001018077.1(NR3C1): c.*2188A> G single nucleotide variant Likely benign rs6193 GRCh37 Chromosome 5, 142659266: 142659266
37 NR3C1 NM_001018077.1(NR3C1): c.*2056dupA duplication Uncertain significance rs886060046 GRCh38 Chromosome 5, 143279833: 143279833
38 NR3C1 NM_001018077.1(NR3C1): c.*2056dupA duplication Uncertain significance rs886060046 GRCh37 Chromosome 5, 142659398: 142659398
39 NR3C1 NM_001018077.1(NR3C1): c.*1245_*1248dupATGT duplication Uncertain significance rs10482710 GRCh38 Chromosome 5, 143280641: 143280644
40 NR3C1 NM_001018077.1(NR3C1): c.*1245_*1248dupATGT duplication Uncertain significance rs10482710 GRCh37 Chromosome 5, 142660206: 142660209
41 NR3C1 NM_001018077.1(NR3C1): c.*861_*868delACCTGCTG deletion Uncertain significance rs547184962 GRCh38 Chromosome 5, 143281021: 143281028
42 NR3C1 NM_001018077.1(NR3C1): c.*861_*868delACCTGCTG deletion Uncertain significance rs547184962 GRCh37 Chromosome 5, 142660586: 142660593
43 NR3C1 NM_001018077.1(NR3C1): c.*766_*769dupAAAA duplication Uncertain significance rs34248080 GRCh37 Chromosome 5, 142660685: 142660688
44 NR3C1 NM_001018077.1(NR3C1): c.*766_*769dupAAAA duplication Uncertain significance rs34248080 GRCh38 Chromosome 5, 143281120: 143281123
45 NR3C1 NM_001018077.1(NR3C1): c.*769dupA duplication Uncertain significance rs34248080 GRCh37 Chromosome 5, 142660685: 142660685
46 NR3C1 NM_001018077.1(NR3C1): c.*769dupA duplication Uncertain significance rs34248080 GRCh38 Chromosome 5, 143281120: 143281120
47 NR3C1 NM_001018077.1(NR3C1): c.*290A> C single nucleotide variant Likely benign rs72542758 GRCh37 Chromosome 5, 142661164: 142661164
48 NR3C1 NM_001018077.1(NR3C1): c.*290A> C single nucleotide variant Likely benign rs72542758 GRCh38 Chromosome 5, 143281599: 143281599
49 NR3C1 NM_001018077.1(NR3C1): c.*149T> C single nucleotide variant Uncertain significance rs886060059 GRCh37 Chromosome 5, 142661305: 142661305
50 NR3C1 NM_001018077.1(NR3C1): c.*149T> C single nucleotide variant Uncertain significance rs886060059 GRCh38 Chromosome 5, 143281740: 143281740
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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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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