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GCCR
MCID: GLC106
MIFTS: 47

Glucocorticoid Resistance, Generalized (GCCR)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental 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 57 72 29 6
Glucocorticoid Resistance 57 20 72 39
Cortisol Resistance from Glucocorticoid Receptor Defect 57 20 72
Glucocorticoid Receptor Deficiency 57 72 70
Gccr Deficiency 57 72
Gcr Deficiency 57 72
Grl Deficiency 57 72
Gccr 57 72
Generalized Glucocorticoid Resistance Syndrome 58
Glucocorticoid Resistance Syndrome 36
Cortisol Resistance 72
Chrousos Syndrome 72
Gcres 72

Characteristics:

Orphanet epidemiological data:

58
generalized glucocorticoid resistance syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
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 Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Glucocorticoid Resistance, Generalized

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UniProtKB/Swiss-Prot : 72 Glucocorticoid resistance: Hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations. Inheritance is autosomal dominant.
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.

MalaCards based summary : Glucocorticoid Resistance, Generalized, also known as glucocorticoid resistance, is related to leukemia, acute lymphoblastic and 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 pituitary, liver and kidney, and related phenotypes are fatigue and hirsutism

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) (Updated 20-May-2021)

KEGG : 36 Glucocorticoid resistance is a rare syndrome characterized by decreased sensitivity to cortisol, increased secretion of cortisol, resistance to adrenal suppression by dexamethasone and the absence of the clinical stigmata of Cushing's syndrome. The clinical symptom of glucocorticoid resistance is variable. Phenotypes commonly include hypoglycemia, hypertension, and metabolic alkalosis. Mutations in the the glucocorticoid receptor (GR) gene NR3C1 have been reported.

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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 116)
# Related Disease Score Top Affiliating Genes
1 leukemia, acute lymphoblastic 10.6
2 leukemia 10.5
3 precursor t-cell acute lymphoblastic leukemia 10.4
4 hyperandrogenism 10.3
5 childhood acute lymphocytic leukemia 10.3
6 allergic disease 10.2
7 conn's syndrome 10.2
8 t-cell acute lymphoblastic leukemia 10.2
9 b-lymphoblastic leukemia/lymphoma 10.1
10 thrombocytopenia 10.1
11 hypokalemia 10.1
12 leukemia, chronic lymphocytic 10.1
13 systemic lupus erythematosus 10.1
14 asthma 10.1
15 thrombocytopenia due to platelet alloimmunization 10.1
16 lupus erythematosus 10.1
17 hypoglycemia 10.1
18 precocious puberty 10.1
19 body mass index quantitative trait locus 11 10.0
20 aging 10.0
21 body mass index quantitative trait locus 9 10.0
22 body mass index quantitative trait locus 8 10.0
23 body mass index quantitative trait locus 4 10.0
24 body mass index quantitative trait locus 10 10.0
25 body mass index quantitative trait locus 7 10.0
26 body mass index quantitative trait locus 12 10.0
27 body mass index quantitative trait locus 14 10.0
28 body mass index quantitative trait locus 18 10.0
29 body mass index quantitative trait locus 19 10.0
30 helix syndrome 10.0
31 inflammatory bowel disease 10.0
32 familial glucocorticoid deficiency 10.0
33 adult respiratory distress syndrome 10.0
34 infertility 10.0
35 acne 10.0
36 childhood leukemia 10.0
37 cytokine deficiency 10.0
38 alopecia 10.0
39 temporal arteritis 9.9
40 human immunodeficiency virus type 1 9.9
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
43 chronic asthma 9.9
44 sensorineural hearing loss 9.9
45 polycystic ovary syndrome 9.9
46 nephrotic syndrome 9.9
47 purpura 9.9
48 liver disease 9.9
49 severe combined immunodeficiency 9.9
50 ulcerative colitis 9.9

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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001007
3 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
4 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
5 increased urinary cortisol level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012030
6 increased circulating cortisol level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003118
7 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
8 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
9 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
10 adrenal hyperplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008221
11 oligomenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000876
12 metabolic alkalosis 58 31 frequent (33%) Frequent (79-30%) HP:0200114
13 abnormal serum testosterone level 31 frequent (33%) HP:0030087
14 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
15 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
16 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
17 infertility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000789
18 female pseudohermaphroditism 58 31 occasional (7.5%) Occasional (29-5%) HP:0010458
19 oligospermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000798
20 frontal balding 58 31 occasional (7.5%) Occasional (29-5%) HP:0002292
21 anxiety 31 occasional (7.5%) HP:0000739
22 irregular menstruation 31 occasional (7.5%) HP:0000858
23 stroke 58 31 very rare (1%) Very rare (<4-1%) HP:0001297
24 hypercortisolism 58 Occasional (29-5%)
25 abnormal testosterone level 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4 51333-22-3 63006 5281004
2 Hormones Phase 4
3 Hormone Antagonists Phase 4
4 glucocorticoids Phase 4
5 Anti-Inflammatory Agents Phase 4
6 Respiratory System Agents Phase 4
7 Anti-Asthmatic Agents Phase 4
8 Bronchodilator Agents Phase 4
9
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
10
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
11
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
13
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
14
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
15
Racepinephrine Approved Phase 2 329-65-7 838
16
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
17
protease inhibitors Phase 2
18 Contraceptives, Postcoital Phase 2
19 Epinephryl borate Phase 2
20 Diuretics, Potassium Sparing Phase 2
21 Mineralocorticoids Phase 2
22 Contraceptives, Oral Phase 2
23 Hydrocortisone 17-butyrate 21-propionate Phase 2
24 Contraceptive Agents Phase 2
25 Hydrocortisone hemisuccinate Phase 2
26 Mineralocorticoid Receptor Antagonists Phase 2
27 BB 1101 Phase 2
28 diuretics Phase 2
29 HIV Protease Inhibitors Phase 2
30
Methylprednisolone Approved, Vet_approved 83-43-2 6741
31
Prednisolone Approved, Vet_approved 50-24-8 5755
32
Prednisolone acetate Approved, Vet_approved 52-21-1
33
Prednisolone phosphate Approved, Vet_approved 302-25-0
34
Methylprednisolone hemisuccinate Approved 2921-57-5
35
Prednisolone hemisuccinate Experimental 2920-86-7
36 Immunoglobulins
37 Antibodies
38 Antibodies, Monoclonal
39 Gastrointestinal Agents
40 Antiemetics
41 Antineoplastic Agents, Hormonal
42 Methylprednisolone Acetate
43 Neuroprotective Agents
44 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diesel Exhaust Induces Glucocorticoid Resistance Recruiting NCT03615742 Phase 4 Budesonide
2 Evaluation of Cortisol Resistance in Young Sedentary and Endurance-trained Men and Elderly Sedentary Men Completed NCT01294319 Phase 2 Mifepristone;Placebo;Spironolactone;Combined;Dexamethasone
3 Prevalence of Mutations of Glucocorticoid Receptors in Bilateral Adrenal Hyperplasia Unknown status NCT02810496
4 Flow Cytometric Analysis of Glucocorticoid Receptor Using Monoclonal Antibody and Fluoresceinated Ligand Probes in Glucocorticoid-Resistant and -Sensitive Patients Unknown status NCT00600652
5 Study on the Association Between the Effect of Glucocorticoid Pulse Therapy on Neuromyelitis Optica and Gene Polymorphism: a Cohort Study Recruiting NCT04601142 Methylprednisolone

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

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MalaCards organs/tissues related to Glucocorticoid Resistance, Generalized:

40
Pituitary, Liver, Kidney, T Cells, Spleen, Bone Marrow, Smooth Muscle
Sources

Publications for Glucocorticoid Resistance, Generalized

About this section

Articles related to Glucocorticoid Resistance, Generalized:

(show top 50) (show all 783)
# Title Authors PMID Year
1
Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. 57 61 6
8445027 1993
2
Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. 6 57 61
1704018 1991
3
The defective glucocorticoid receptor in man and nonhuman primates. 6 57
2996089 1985
4
Primary cortisol resistance: a family study. 6 57
6841559 1983
5
Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease. 57 6
6282933 1982
6
Spontaneous hypercortisolism without Cushing's syndrome. 6 57
186477 1976
7
Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1. 57 61
23076843 2013
8
Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder. 61 57
18319312 2008
9
A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance. 61 6
17635946 2007
10
Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance. 61 6
16449337 2006
11
A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity. 6 61
15769988 2005
12
Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. 57 61
12754700 2003
13
A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 6 61
12050230 2002
14
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene. 61 6
11932321 2002
15
Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking. 6 61
11701741 2001
16
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 61 6
11589680 2001
17
Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene. 57 61
10843199 2000
18
Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation. 61 6
8863343 1996
19
Decreased deoxyribonucleic acid binding of glucocorticoid-receptor complex in cultured skin fibroblasts from a patient with the glucocorticoid resistance syndrome. 61 57
3597702 1987
20
Familial cortisol resistance: differential diagnostic and therapeutic aspects. 57
3782421 1986
21
Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom. 57
3771797 1986
22
Primary cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family. 57
3980675 1985
23
Glucocorticoid hormone resistance during primate evolution: receptor-mediated mechanisms. 57
6952251 1982
24
Drug Repurposing to Treat Glucocorticoid Resistance in Asthma. 61
33802355 2021
25
Effects of hydrocortisone and yohimbine on selective attention to emotional cues. 61
33779376 2021
26
Mindfulness-Based Stress Reduction buffers glucocorticoid resistance among older adults: A randomized controlled trial. 61
33657083 2021
27
Glucocorticoid resistance induced by ANXA5 overexpression in B-cell acute lymphoblastic leukemia. 61
33231128 2021
28
Response to Letter to the Editor: "Glucocorticoid Resistance in Premature Adrenarche and PCOS: From Childhood to Adulthood". 61
33381669 2021
29
Letter to the Editor: "Glucocorticoid Resistance in Premature Adrenarche and PCOS: From Childhood to Adulthood". 61
33367193 2021
30
Overcoming Glucocorticoid Resistance in Acute Lymphoblastic Leukemia: Repurposed Drugs Can Improve the Protocol. 61
33777761 2021
31
The Protozoan Inhibitor Atovaquone Affects Mitochondrial Respiration and Shows In Vitro Efficacy Against Glucocorticoid-Resistant Cells in Childhood B-Cell Acute Lymphoblastic Leukaemia. 61
33791218 2021
32
NGS study of glucocorticoid response genes in inflammatory bowel disease patients. 61
33747278 2021
33
Hypoxia- and dexamethasone-dependent HIF1α-glucocorticoid receptor interaction leads to degradation of glucocorticoid receptor in pituitary adenomas. 61
33594318 2021
34
Neutrophil to lymphocyte ratio predicts glucocorticoid resistance in polymyalgia rheumatica. 61
33043616 2021
35
Ozone-Induced Oxidative Stress, Neutrophilic Airway Inflammation, and Glucocorticoid Resistance in Asthma. 61
33717165 2021
36
The role of FKBP51 in the prognosis of ulcerative colitis-associated colorectal cancer. 61
33461100 2021
37
Latest perspectives on glucocorticoid-induced apoptosis and resistance in lymphoid malignancies. 61
32950642 2020
38
Glucocorticoid-induced eosinopenia results from CXCR4-dependent bone marrow migration. 61
32659786 2020
39
The Role of Epigenetics in the Chronic Sinusitis with Nasal Polyp. 61
33236242 2020
40
FK506 binding proteins and inflammation related signalling pathways; basic biology, current status and future prospects for pharmacological intervention. 61
32622856 2020
41
The Mechanisms Underlying Autonomous Adrenocorticotropic Hormone Secretion in Cushing's Disease. 61
33266265 2020
42
Glucocorticoid Resistance is Associated with Poor Functional Outcome After Stroke. 61
32107751 2020
43
COVID-19 and ethnicity: Does reduced responsiveness to glucocorticoids explain the more aggressive nature of disease among minorities? 61
33254527 2020
44
High-throughput sequencing analysis of differences in intestinal microflora between ulcerative colitis patients with different glucocorticoid response types. 61
32844358 2020
45
[Liver failure and glucocorticoid resistance]. 61
33105937 2020
46
GRβ Regulates Glucocorticoid Resistance in Sudden Sensorineural Hearing Loss. 61
33032506 2020
47
Why do some asthma patients respond poorly to glucocorticoid therapy? 61
32911071 2020
48
miR-331-3p is involved in glucocorticoid resistance reversion by rapamycin through suppression of the MAPK signaling pathway. 61
32776229 2020
49
CRISPR-Cas9-Mediated Glucocorticoid Resistance in Virus-Specific T Cells for Adoptive T Cell Therapy Posttransplantation. 61
32559432 2020
50
Glucocorticoid Resistance in Premature Adrenarche and PCOS: From Childhood to Adulthood. 61
32904537 2020
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Variations for Glucocorticoid Resistance, Generalized

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ClinVar genetic disease variations for Glucocorticoid Resistance, Generalized:

6 (show top 50) (show all 137)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR3C1 NM_000176.3(NR3C1):c.1712T>C (p.Val571Ala) SNV Pathogenic 16153 rs104893911 GRCh37: 5:142680085-142680085
GRCh38: 5:143300520-143300520
2 NR3C1 NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu) SNV Pathogenic 16158 rs121909727 GRCh37: 5:142661579-142661579
GRCh38: 5:143282014-143282014
3 NR3C1 NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser) SNV Pathogenic 16157 rs104893914 GRCh37: 5:142662279-142662279
GRCh38: 5:143282714-143282714
4 NR3C1 NM_000176.3(NR3C1):c.1430G>A (p.Arg477His) SNV Pathogenic 16156 rs104893913 GRCh37: 5:142689700-142689700
GRCh38: 5:143310135-143310135
5 NR3C1 NM_000176.3(NR3C1):c.2318T>C (p.Leu773Pro) SNV Pathogenic 16155 rs104893912 GRCh37: 5:142661470-142661470
GRCh38: 5:143281905-143281905
6 NR3C1 NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met) SNV Pathogenic 16152 rs104893910 GRCh37: 5:142661547-142661547
GRCh38: 5:143281982-143281982
7 NR3C1 NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn) SNV Pathogenic 16151 rs104893909 GRCh37: 5:142680121-142680121
GRCh38: 5:143300556-143300556
8 NR3C1 NM_000176.3(NR3C1):c.1891_1892+2del Deletion Pathogenic 16148 rs587776832 GRCh37: 5:142678231-142678234
GRCh38: 5:143298666-143298669
9 NR3C1 NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val) SNV Pathogenic 16147 rs104893908 GRCh37: 5:142675126-142675126
GRCh38: 5:143295561-143295561
10 NR3C1 NM_000176.3(NR3C1):c.*2521T>A SNV Uncertain significance 351330 rs886060045 GRCh37: 5:142658933-142658933
GRCh38: 5:143279368-143279368
11 NR3C1 NM_000176.3(NR3C1):c.*3937A>T SNV Uncertain significance 351313 rs4518436 GRCh37: 5:142657517-142657517
GRCh38: 5:143277952-143277952
12 NR3C1 NM_000176.3(NR3C1):c.309A>T (p.Gly103=) SNV Uncertain significance 351375 rs779300133 GRCh37: 5:142780096-142780096
GRCh38: 5:143400531-143400531
13 NR3C1 NM_000176.3(NR3C1):c.*2056dup Duplication Uncertain significance 351333 rs886060046 GRCh37: 5:142659397-142659398
GRCh38: 5:143279832-143279833
14 NR3C1 NM_000176.3(NR3C1):c.*1628A>G SNV Uncertain significance 351336 rs372713535 GRCh37: 5:142659826-142659826
GRCh38: 5:143280261-143280261
15 NR3C1 NM_000176.3(NR3C1):c.*752A>G SNV Uncertain significance 351353 rs869125609 GRCh37: 5:142660702-142660702
GRCh38: 5:143281137-143281137
16 NR3C1 NM_000176.3(NR3C1):c.850A>G (p.Ile284Val) SNV Uncertain significance 351372 rs766200119 GRCh37: 5:142779555-142779555
GRCh38: 5:143399990-143399990
17 NR3C1 NM_000176.3(NR3C1):c.*409dup Duplication Uncertain significance 351356 rs10482707 GRCh37: 5:142661044-142661045
GRCh38: 5:143281479-143281480
18 NR3C1 NM_000176.3(NR3C1):c.*36G>A SNV Uncertain significance 351362 rs761674033 GRCh37: 5:142661418-142661418
GRCh38: 5:143281853-143281853
19 NR3C1 NM_000176.3(NR3C1):c.*1055T>A SNV Uncertain significance 351345 rs886060051 GRCh37: 5:142660399-142660399
GRCh38: 5:143280834-143280834
20 NR3C1 NM_000176.3(NR3C1):c.*3319G>C SNV Uncertain significance 351319 rs886060039 GRCh37: 5:142658135-142658135
GRCh38: 5:143278570-143278570
21 NR3C1 NM_000176.3(NR3C1):c.*2873G>A SNV Uncertain significance 351327 rs886060042 GRCh37: 5:142658581-142658581
GRCh38: 5:143279016-143279016
22 NR3C1 NM_000176.3(NR3C1):c.*1407A>G SNV Uncertain significance 351339 rs886060049 GRCh37: 5:142660047-142660047
GRCh38: 5:143280482-143280482
23 NR3C1 NM_000176.3(NR3C1):c.*3046G>C SNV Uncertain significance 351325 rs886060041 GRCh37: 5:142658408-142658408
GRCh38: 5:143278843-143278843
24 NR3C1 NM_000176.3(NR3C1):c.*861_*868del Deletion Uncertain significance 351348 rs547184962 GRCh37: 5:142660586-142660593
GRCh38: 5:143281021-143281028
25 NR3C1 NM_000176.3(NR3C1):c.*2956G>A SNV Uncertain significance 904168 GRCh37: 5:142658498-142658498
GRCh38: 5:143278933-143278933
26 NR3C1 NM_000176.3(NR3C1):c.*2947T>G SNV Uncertain significance 904169 GRCh37: 5:142658507-142658507
GRCh38: 5:143278942-143278942
27 NR3C1 NM_000176.3(NR3C1):c.*2928A>G SNV Uncertain significance 904170 GRCh37: 5:142658526-142658526
GRCh38: 5:143278961-143278961
28 NR3C1 NM_000176.3(NR3C1):c.*2875T>C SNV Uncertain significance 904171 GRCh37: 5:142658579-142658579
GRCh38: 5:143279014-143279014
29 NR3C1 NM_000176.3(NR3C1):c.*905A>T SNV Uncertain significance 904220 GRCh37: 5:142660549-142660549
GRCh38: 5:143280984-143280984
30 NR3C1 NM_000176.3(NR3C1):c.*808T>C SNV Uncertain significance 904221 GRCh37: 5:142660646-142660646
GRCh38: 5:143281081-143281081
31 NR3C1 NM_000176.3(NR3C1):c.*534T>C SNV Uncertain significance 904222 GRCh37: 5:142660920-142660920
GRCh38: 5:143281355-143281355
32 NR3C1 NM_000176.3(NR3C1):c.*293A>C SNV Uncertain significance 904223 GRCh37: 5:142661161-142661161
GRCh38: 5:143281596-143281596
33 NR3C1 NM_000176.3(NR3C1):c.289G>A (p.Val97Met) SNV Uncertain significance 351376 rs886060062 GRCh37: 5:142780116-142780116
GRCh38: 5:143400551-143400551
34 NR3C1 NM_000176.3(NR3C1):c.*149T>C SNV Uncertain significance 351360 rs886060059 GRCh37: 5:142661305-142661305
GRCh38: 5:143281740-143281740
35 NR3C1 NM_000176.3(NR3C1):c.*618A>G SNV Uncertain significance 351355 rs886060056 GRCh37: 5:142660836-142660836
GRCh38: 5:143281271-143281271
36 NR3C1 NM_000176.3(NR3C1):c.*766_*769dup Duplication Uncertain significance 351352 rs34248080 GRCh37: 5:142660684-142660685
GRCh38: 5:143281119-143281120
37 NR3C1 NM_000176.3(NR3C1):c.*3759dup Duplication Uncertain significance 351315 rs772052566 GRCh37: 5:142657694-142657695
GRCh38: 5:143278129-143278130
38 NR3C1 NM_000176.3(NR3C1):c.*101dup Duplication Uncertain significance 351361 rs776865643 GRCh37: 5:142661352-142661353
GRCh38: 5:143281787-143281788
39 NR3C1 NM_000176.3(NR3C1):c.*2031C>T SNV Uncertain significance 351335 rs369162225 GRCh37: 5:142659423-142659423
GRCh38: 5:143279858-143279858
40 NR3C1 NM_000176.3(NR3C1):c.*3431G>C SNV Uncertain significance 351318 rs886060038 GRCh37: 5:142658023-142658023
GRCh38: 5:143278458-143278458
41 NR3C1 NM_000176.3(NR3C1):c.*1509C>A SNV Uncertain significance 351338 rs886060048 GRCh37: 5:142659945-142659945
GRCh38: 5:143280380-143280380
42 NR3C1 NM_000176.3(NR3C1):c.*401dup Duplication Uncertain significance 351358 rs886060058 GRCh37: 5:142661052-142661053
GRCh38: 5:143281487-143281488
43 NR3C1 NM_000176.3(NR3C1):c.*1241C>T SNV Uncertain significance 351341 rs768128384 GRCh37: 5:142660213-142660213
GRCh38: 5:143280648-143280648
44 NR3C1 NM_000176.3(NR3C1):c.*937C>A SNV Uncertain significance 351347 rs72542760 GRCh37: 5:142660517-142660517
GRCh38: 5:143280952-143280952
45 NR3C1 NM_000176.3(NR3C1):c.*1087_*1088dup Duplication Uncertain significance 351344 rs886060050 GRCh37: 5:142660365-142660366
GRCh38: 5:143280800-143280801
46 NR3C1 NM_000176.3(NR3C1):c.*769dup Duplication Uncertain significance 351350 rs34248080 GRCh37: 5:142660684-142660685
GRCh38: 5:143281119-143281120
47 NR3C1 NM_000176.3(NR3C1):c.*3466T>C SNV Uncertain significance 351317 rs886060037 GRCh37: 5:142657988-142657988
GRCh38: 5:143278423-143278423
48 NR3C1 NM_000176.3(NR3C1):c.*750del Deletion Uncertain significance 351354 rs886060055 GRCh37: 5:142660704-142660704
GRCh38: 5:143281139-143281139
49 NR3C1 NM_000176.3(NR3C1):c.*1589A>G SNV Uncertain significance 351337 rs886060047 GRCh37: 5:142659865-142659865
GRCh38: 5:143280300-143280300
50 NR3C1 NM_000176.3(NR3C1):c.753G>A (p.Pro251=) SNV Uncertain significance 351373 rs375379753 GRCh37: 5:142779652-142779652
GRCh38: 5:143400087-143400087

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

72 (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

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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:

36
# 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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