GCCR
MCID: GLC106
MIFTS: 48

Glucocorticoid Resistance, Generalized (GCCR)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Glucocorticoid Resistance, Generalized

MalaCards integrated aliases for Glucocorticoid Resistance, Generalized:

Name: Glucocorticoid Resistance, Generalized 57 73
Glucocorticoid Resistance 57 19 75 73 28 5 38 33
Cortisol Resistance from Glucocorticoid Receptor Defect 57 19 73
Glucocorticoid Receptor Deficiency 57 73 71
Gccr Deficiency 57 73
Gcr Deficiency 57 73
Grl Deficiency 57 73
Gccr 57 73
Generalized Glucocorticoid Resistance Syndrome 58
Cortisol Resistance 73
Chrousos Syndrome 73
Gcres 73

Characteristics:


Inheritance:

Glucocorticoid Resistance, Generalized: Autosomal dominant 57
Generalized Glucocorticoid Resistance Syndrome: Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Generalized Glucocorticoid Resistance Syndrome: All ages 58

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Glucocorticoid Resistance, Generalized

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 08-Dec-2022)

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). The drugs Budesonide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, smooth muscle and myeloid, and related phenotypes are fatigue and hirsutism

UniProtKB/Swiss-Prot 73 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.

Glucocorticoid resistance: Hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations. Inheritance is autosomal dominant.

GARD: 19 A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.

Orphanet: 58 A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.

Wikipedia: 75 Glucocorticoid resistance is a syndrome characterized by resistance to glucocorticoid hormones such as... more...

Related Diseases for Glucocorticoid Resistance, Generalized

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

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 leukemia, acute lymphoblastic 10.7
2 leukemia 10.6
3 childhood acute lymphocytic leukemia 10.4
4 precursor t-cell acute lymphoblastic leukemia 10.4
5 asthma 10.3
6 hyperandrogenism 10.3
7 allergic disease 10.3
8 t-cell acute lymphoblastic leukemia 10.3
9 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.2
10 hypokalemia 10.2
11 leukemia, chronic lymphocytic 10.2
12 leukemia, acute lymphoblastic 3 10.2
13 b-lymphoblastic leukemia/lymphoma 10.2
14 thrombocytopenia due to platelet alloimmunization 10.2
15 thrombocytopenia 10.2
16 autoimmune disease 10.1
17 major depressive disorder 10.1
18 pituitary-dependent cushing's disease 10.1
19 systemic lupus erythematosus 10.1
20 inflammatory bowel disease 1 10.1
21 systemic lupus erythematosus 1 10.1
22 inflammatory bowel disease 10.1
23 chronic fatigue syndrome 10.1
24 ulcerative colitis 10.1
25 lupus erythematosus 10.1
26 bowel dysfunction 10.1
27 hypoglycemia 10.1
28 cytokine deficiency 10.1
29 precocious puberty 10.1
30 polycystic ovary syndrome 1 10.0
31 immune deficiency disease 10.0
32 helix syndrome 10.0
33 familial glucocorticoid deficiency 10.0
34 sensorineural hearing loss 10.0
35 adult respiratory distress syndrome 10.0
36 polycystic ovary syndrome 10.0
37 acne 10.0
38 childhood leukemia 10.0
39 crohn's disease 10.0
40 sudden sensorineural hearing loss 10.0
41 lymphoproliferative syndrome 10.0
42 alopecia 10.0
43 leukemia, chronic lymphocytic 2 9.9
44 breast cancer 9.9
45 type 2 diabetes mellitus 9.9
46 rheumatoid arthritis 9.9
47 temporal arteritis 9.9
48 thrombocytopenic purpura, autoimmune 9.9
49 ataxia with vitamin e deficiency 9.9
50 pulmonary disease, chronic obstructive 9.9

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



Diseases related to Glucocorticoid Resistance, Generalized

Symptoms & Phenotypes for Glucocorticoid Resistance, Generalized

Human phenotypes related to Glucocorticoid Resistance, Generalized:

58 30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
2 hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001007
3 decreased circulating aldosterone level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004319
4 increased circulating cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003118
5 increased circulating acth level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003154
6 increased urinary cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012030
7 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
8 hypokalemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002900
9 acne 58 30 Frequent (33%) Frequent (79-30%)
HP:0001061
10 adrenal hyperplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008221
11 oligomenorrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000876
12 metabolic alkalosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0200114
13 abnormal circulating testosterone concentration 30 Frequent (33%) HP:0030087
14 precocious puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000826
15 hypoglycemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001943
16 ambiguous genitalia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000062
17 infertility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000789
18 female pseudohermaphroditism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010458
19 oligospermia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000798
20 frontal balding 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002292
21 anxiety 30 Occasional (7.5%) HP:0000739
22 irregular menstruation 30 Occasional (7.5%) HP:0000858
23 stroke 58 30 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 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Glucocorticoid Resistance, Generalized:


fatigue

Drugs & Therapeutics for Glucocorticoid Resistance, Generalized

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4 51333-22-3 5281004 40000 63006
2 Hormones Phase 4
3 Hormone Antagonists Phase 4
4 glucocorticoids Phase 4
5 Anti-Inflammatory Agents Phase 4
6 Bronchodilator Agents Phase 4
7 Anti-Asthmatic Agents Phase 4
8 Respiratory System Agents Phase 4
9
Racepinephrine Approved, Vet_approved Phase 2 51-43-4, 329-65-7 838 5816
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3 3680
11
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 3003 5743
12
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
13
Hydrocortisone succinate Approved Phase 2 2203-97-6 3643
14
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
15
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 3640 5754
16
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
17 Antineoplastic Agents, Hormonal Phase 2
18 Antiemetics Phase 2
19 Gastrointestinal Agents Phase 2
20 Epinephryl borate Phase 2
21 Contraceptives, Postcoital Phase 2
22 HIV Protease Inhibitors Phase 2
23 Contraceptives, Oral Phase 2
24 Contraceptive Agents Phase 2
25 BB 1101 Phase 2
26 Hydrocortisone 17-butyrate 21-propionate Phase 2
27
protease inhibitors Phase 2
28 Diuretics, Potassium Sparing Phase 2
29 diuretics Phase 2
30 Mineralocorticoids Phase 2
31 Mineralocorticoid Receptor Antagonists Phase 2
32
Prednisolone phosphate Approved, Vet_approved 302-25-0
33
Prednisolone acetate Approved, Vet_approved 52-21-1
34
Prednisolone Approved, Vet_approved 50-24-8 4894 5755
35
Methylprednisolone hemisuccinate Approved 2921-57-5 1875
36
Methylprednisolone Approved, Vet_approved 83-43-2 4159 6741
37
Prednisolone hemisuccinate Experimental 2920-86-7 4897
38 Neuroprotective Agents
39
Methylprednisolone Acetate 584547
40 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 Study on the Association Between the Effect of Glucocorticoid Pulse Therapy on Neuromyelitis Optica and Gene Polymorphism: a Cohort Study Unknown status NCT04601142 Methylprednisolone
4 Prevalence of Mutations of Glucocorticoid Receptors in Bilateral Adrenal Hyperplasia Unknown status NCT02810496

Search NIH Clinical Center for Glucocorticoid Resistance, Generalized

Genetic Tests for Glucocorticoid Resistance, Generalized

Genetic tests related to Glucocorticoid Resistance, Generalized:

# Genetic test Affiliating Genes
1 Glucocorticoid Resistance 28 NR3C1

Anatomical Context for Glucocorticoid Resistance, Generalized

Organs/tissues related to Glucocorticoid Resistance, Generalized:

MalaCards : Pituitary, Smooth Muscle, Myeloid, T Cells, Bone Marrow, Adrenal Gland, Lung

Publications for Glucocorticoid Resistance, Generalized

Articles related to Glucocorticoid Resistance, Generalized:

(show top 50) (show all 971)
# Title Authors PMID Year
1
Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. 62 57 5
8445027 1993
2
Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. 62 57 5
1704018 1991
3
Primary cortisol resistance: a family study. 62 57 5
6841559 1983
4
Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease. 62 57 5
6282933 1982
5
The defective glucocorticoid receptor in man and nonhuman primates. 57 5
2996089 1985
6
Spontaneous hypercortisolism without Cushing's syndrome. 57 5
186477 1976
7
Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1. 62 57
23076843 2013
8
Primary generalized glucocorticoid resistance and hypersensitivity. 62 5
21912096 2011
9
Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder. 62 57
18319312 2008
10
Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance. 62 5
16449337 2006
11
Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. 62 57
12754700 2003
12
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. 62 5
11701741 2001
13
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 62 5
11589680 2001
14
Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene. 62 57
10843199 2000
15
Decreased deoxyribonucleic acid binding of glucocorticoid-receptor complex in cultured skin fibroblasts from a patient with the glucocorticoid resistance syndrome. 62 57
3597702 1987
16
Familial cortisol resistance: differential diagnostic and therapeutic aspects. 62 57
3782421 1986
17
Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom. 62 57
3771797 1986
18
Primary cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family. 62 57
3980675 1985
19
Glucocorticoid hormone resistance during primate evolution: receptor-mediated mechanisms. 57
6952251 1982
20
Macrophage migration inhibitory factor promotes glucocorticoid resistance of neutrophilic inflammation in a murine model of severe asthma. 62
36344253 2022
21
Mechanisms of Xiong-Pi-Fang in treating coronary heart disease associated with depression: A systematic pharmacology strategy and in vivo pharmacological validation. 62
35987411 2022
22
Molecular mechanisms of glucocorticoid resistance. 62
36346177 2022
23
The PMN-MDSC - a key player in glucocorticoid resistance following combined physical and psychosocial trauma. 62
36427809 2022
24
Recent Advances in Nanomaterials for Asthma Treatment. 62
36430906 2022
25
Identification of a novel GR-ARID1a-P53BP1 protein complex involved in DNA damage repair and cell cycle regulation. 62
36344675 2022
26
Chemosensory Dysfunction in Long-Term COVID-19 Assessed by Self-Reported and Direct Psychophysical Methods. 62
36294922 2022
27
ABCB1 gene polymorphisms impact the effect of high-dose intravenous methylprednisolone therapy on optic neuritis associated with AQP4-IgG-positive neuromyelitis optica spectrum disorder. 62
35488449 2022
28
Functional and Structural Impact of Deleterious Missense Single Nucleotide Polymorphisms in the NR3C1, CYP3A5, and TNF-α Genes: An In Silico Analysis. 62
36139147 2022
29
LRH-1/NR5A2 interacts with the glucocorticoid receptor to regulate glucocorticoid resistance. 62
35801407 2022
30
Incidences and characteristics of primary lung malignancies in childhood in Germany: An analysis of population-based data from German cancer registries. 62
35488714 2022
31
Long-term care, care needs and wellbeing of individuals after cancer in childhood or adolescence (VersKiK): study protocol of a large scale multi-methods non-interventional study. 62
36127717 2022
32
Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia. 62
35732960 2022
33
Icariin Improves Glucocorticoid Resistance in a Murine Model of Asthma with Depression Associated with Enhancement of GR Expression and Function. 62
35850481 2022
34
IL-17A mediates pyroptosis via the ERK pathway and contributes to steroid resistance in CRSwNP. 62
35346673 2022
35
Cortisol resistance in the degu (Octodon degus). 62
35429494 2022
36
Glucocorticoid receptor modulates myeloid-derived suppressor cell function via mitochondrial metabolism in immune thrombocytopenia. 62
35414712 2022
37
Impaired glucocorticoid receptor expression and mitochondrial metabolism in MDSCs contribute to glucocorticoid resistance in immune thrombocytopenia. 62
35705696 2022
38
Inhibition of the Sec61 translocon overcomes cytokine-induced glucocorticoid resistance in T-cell acute lymphoblastic leukaemia. 62
35434798 2022
39
Monogenic forms of low-renin hypertension: clinical and molecular insights. 62
34414500 2022
40
Rare pediatric tumors in Germany - not as rare as expected: a study based on data from the Bavarian Cancer Registry and the German Childhood Cancer Registry. 62
35478271 2022
41
Functional and morphologic dysfunctions in the airways of rats submitted to an experimental model of obesity-exacerbated asthma. 62
35681069 2022
42
STAT5 does not drive steroid resistance in T-cell acute lymphoblastic leukemia despite the activation of BCL2 and BCLXL following glucocorticoid treatment. 62
35734930 2022
43
Gene Expression Changes of Murine Cortex Homeostasis in Response to Sleep Deprivation Hint Dysregulated Aging-like Transcriptional Responses. 62
35884632 2022
44
Cause or consequence? Understanding the role of cortisol in the increased inflammation observed in depression. 62
35634363 2022
45
Impact of duration of critical illness and level of systemic glucocorticoid availability on tissue-specific glucocorticoid receptor expression and actions: A prospective, observational, cross-sectional human and two translational mouse studies. 62
35584557 2022
46
DT7 peptide-modified lecithin nanoparticles co-loaded with γ-secretase inhibitor and dexamethasone efficiently inhibit T-cell acute lymphoblastic leukemia and reduce gastrointestinal toxicity. 62
35240234 2022
47
[The 41,000 long-term survivor cohort of the German Childhood Cancer Registry]. 62
35294562 2022
48
Glucocorticoid receptor gene mutations confer glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia. 62
35124168 2022
49
Massively collaborative crowdsourced research on COVID19 and the chemical senses: Insights and outcomes. 62
34848930 2022
50
Metformin alleviates chronic obstructive pulmonary disease and cigarette smoke extract-induced glucocorticoid resistance by activating the nuclear factor E2-related factor 2/heme oxygenase-1 signaling pathway. 62
35203060 2022

Variations for Glucocorticoid Resistance, Generalized

ClinVar genetic disease variations for Glucocorticoid Resistance, Generalized:

5 (show top 50) (show all 140)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR3C1 NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val) SNV Pathogenic
16147 rs104893908 GRCh37: 5:142675126-142675126
GRCh38: 5:143295561-143295561
2 NR3C1 NM_000176.3(NR3C1):c.1891_1892+2del DEL Pathogenic
16148 rs587776832 GRCh37: 5:142678231-142678234
GRCh38: 5:143298666-143298669
3 NR3C1 NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn) SNV Pathogenic
16151 rs104893909 GRCh37: 5:142680121-142680121
GRCh38: 5:143300556-143300556
4 NR3C1 NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met) SNV Pathogenic
16152 rs104893910 GRCh37: 5:142661547-142661547
GRCh38: 5:143281982-143281982
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.1430G>A (p.Arg477His) SNV Pathogenic
16156 rs104893913 GRCh37: 5:142689700-142689700
GRCh38: 5:143310135-143310135
7 NR3C1 NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser) SNV Pathogenic
16157 rs104893914 GRCh37: 5:142662279-142662279
GRCh38: 5:143282714-143282714
8 NR3C1 NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu) SNV Pathogenic
16158 rs121909727 GRCh37: 5:142661579-142661579
GRCh38: 5:143282014-143282014
9 NR3C1 NM_000176.3(NR3C1):c.289G>A (p.Val97Met) SNV Uncertain Significance
351376 rs886060062 GRCh37: 5:142780116-142780116
GRCh38: 5:143400551-143400551
10 NR3C1 NM_000176.3(NR3C1):c.*401dup DUP Uncertain Significance
351358 rs886060058 GRCh37: 5:142661052-142661053
GRCh38: 5:143281487-143281488
11 NR3C1 NM_000176.3(NR3C1):c.*1241C>T SNV Uncertain Significance
351341 rs768128384 GRCh37: 5:142660213-142660213
GRCh38: 5:143280648-143280648
12 NR3C1 NM_000176.3(NR3C1):c.*937C>A SNV Uncertain Significance
351347 rs72542760 GRCh37: 5:142660517-142660517
GRCh38: 5:143280952-143280952
13 NR3C1 NM_000176.3(NR3C1):c.*1087_*1088dup DUP Uncertain Significance
351344 rs886060050 GRCh37: 5:142660365-142660366
GRCh38: 5:143280800-143280801
14 NR3C1 NM_000176.3(NR3C1):c.*769dup DUP Uncertain Significance
351350 rs34248080 GRCh37: 5:142660684-142660685
GRCh38: 5:143281119-143281120
15 NR3C1 NM_000176.3(NR3C1):c.*149T>C SNV Uncertain Significance
351360 rs886060059 GRCh37: 5:142661305-142661305
GRCh38: 5:143281740-143281740
16 NR3C1 NM_000176.3(NR3C1):c.*2873G>A SNV Uncertain Significance
351327 rs886060042 GRCh37: 5:142658581-142658581
GRCh38: 5:143279016-143279016
17 NR3C1 NM_000176.3(NR3C1):c.*3466T>C SNV Uncertain Significance
351317 rs886060037 GRCh37: 5:142657988-142657988
GRCh38: 5:143278423-143278423
18 NR3C1 NM_000176.3(NR3C1):c.*750del DEL Uncertain Significance
351354 rs886060055 GRCh37: 5:142660704-142660704
GRCh38: 5:143281139-143281139
19 NR3C1 NM_000176.3(NR3C1):c.*1589A>G SNV Uncertain Significance
351337 rs886060047 GRCh37: 5:142659865-142659865
GRCh38: 5:143280300-143280300
20 NR3C1 NM_000176.3(NR3C1):c.753G>A (p.Pro251=) SNV Uncertain Significance
351373 rs375379753 GRCh37: 5:142779652-142779652
GRCh38: 5:143400087-143400087
21 NR3C1 NM_000176.3(NR3C1):c.*1245_*1248dup DUP Uncertain Significance
351340 rs10482710 GRCh37: 5:142660205-142660206
GRCh38: 5:143280640-143280641
22 NR3C1 NM_000176.3(NR3C1):c.*409del DEL Uncertain Significance
351357 rs10482707 GRCh37: 5:142661045-142661045
GRCh38: 5:143281480-143281480
23 NR3C1 NM_000176.3(NR3C1):c.*946T>G SNV Uncertain Significance
351346 rs886060052 GRCh37: 5:142660508-142660508
GRCh38: 5:143280943-143280943
24 NR3C1 NM_000176.3(NR3C1):c.2307C>G (p.Ile769Met) SNV Uncertain Significance
351363 rs886060060 GRCh37: 5:142661481-142661481
GRCh38: 5:143281916-143281916
25 NR3C1 NM_000176.3(NR3C1):c.*3300G>T SNV Uncertain Significance
351320 rs72542770 GRCh37: 5:142658154-142658154
GRCh38: 5:143278589-143278589
26 NR3C1 NM_000176.3(NR3C1):c.*3077G>A SNV Uncertain Significance
351323 rs886060040 GRCh37: 5:142658377-142658377
GRCh38: 5:143278812-143278812
27 NR3C1 NM_000176.3(NR3C1):c.*1176C>T SNV Uncertain Significance
351343 rs61753504 GRCh37: 5:142660278-142660278
GRCh38: 5:143280713-143280713
28 NR3C1 NM_000176.3(NR3C1):c.*3003A>G SNV Uncertain Significance
351326 rs61753509 GRCh37: 5:142658451-142658451
GRCh38: 5:143278886-143278886
29 NR3C1 NM_000176.3(NR3C1):c.*2151A>C SNV Uncertain Significance
351332 rs746282402 GRCh37: 5:142659303-142659303
GRCh38: 5:143279738-143279738
30 NR3C1 NM_000176.3(NR3C1):c.631A>G (p.Ser211Gly) SNV Uncertain Significance
351374 rs886060061 GRCh37: 5:142779774-142779774
GRCh38: 5:143400209-143400209
31 NR3C1 NM_000176.3(NR3C1):c.*2567A>G SNV Uncertain Significance
351329 rs886060044 GRCh37: 5:142658887-142658887
GRCh38: 5:143279322-143279322
32 NR3C1 NM_000176.3(NR3C1):c.*834_*837dup DUP Uncertain Significance
351349 rs886060053 GRCh37: 5:142660616-142660617
GRCh38: 5:143281051-143281052
33 NR3C1 NM_000176.3(NR3C1):c.*618A>G SNV Uncertain Significance
351355 rs886060056 GRCh37: 5:142660836-142660836
GRCh38: 5:143281271-143281271
34 NR3C1 NM_000176.3(NR3C1):c.*766_*769dup DUP Uncertain Significance
351352 rs34248080 GRCh37: 5:142660684-142660685
GRCh38: 5:143281119-143281120
35 NR3C1 NM_000176.3(NR3C1):c.*3759dup DUP Uncertain Significance
351315 rs772052566 GRCh37: 5:142657694-142657695
GRCh38: 5:143278129-143278130
36 NR3C1 NM_000176.3(NR3C1):c.*101dup DUP Uncertain Significance
351361 rs776865643 GRCh37: 5:142661352-142661353
GRCh38: 5:143281787-143281788
37 NR3C1 NM_000176.3(NR3C1):c.*2031C>T SNV Uncertain Significance
351335 rs369162225 GRCh37: 5:142659423-142659423
GRCh38: 5:143279858-143279858
38 NR3C1 NM_000176.3(NR3C1):c.*3431G>C SNV Uncertain Significance
351318 rs886060038 GRCh37: 5:142658023-142658023
GRCh38: 5:143278458-143278458
39 NR3C1 NM_000176.3(NR3C1):c.*1509C>A SNV Uncertain Significance
351338 rs886060048 GRCh37: 5:142659945-142659945
GRCh38: 5:143280380-143280380
40 NR3C1 NM_000176.3(NR3C1):c.*768_*769dup DUP Uncertain Significance
351351 rs34248080 GRCh37: 5:142660684-142660685
GRCh38: 5:143281119-143281120
41 NR3C1 NM_000176.3(NR3C1):c.*3046G>C SNV Uncertain Significance
351325 rs886060041 GRCh37: 5:142658408-142658408
GRCh38: 5:143278843-143278843
42 NR3C1 NM_000176.3(NR3C1):c.*861_*868del DEL Uncertain Significance
351348 rs547184962 GRCh37: 5:142660586-142660593
GRCh38: 5:143281021-143281028
43 NR3C1 NM_000176.3(NR3C1):c.*2956G>A SNV Uncertain Significance
904168 rs535011433 GRCh37: 5:142658498-142658498
GRCh38: 5:143278933-143278933
44 NR3C1 NM_000176.3(NR3C1):c.*2947T>G SNV Uncertain Significance
904169 rs555242390 GRCh37: 5:142658507-142658507
GRCh38: 5:143278942-143278942
45 NR3C1 NM_000176.3(NR3C1):c.*2928A>G SNV Uncertain Significance
904170 rs763603358 GRCh37: 5:142658526-142658526
GRCh38: 5:143278961-143278961
46 NR3C1 NM_000176.3(NR3C1):c.*2875T>C SNV Uncertain Significance
904171 rs1421087791 GRCh37: 5:142658579-142658579
GRCh38: 5:143279014-143279014
47 NR3C1 NM_000176.3(NR3C1):c.*905A>T SNV Uncertain Significance
904220 rs1034700180 GRCh37: 5:142660549-142660549
GRCh38: 5:143280984-143280984
48 NR3C1 NM_000176.3(NR3C1):c.*808T>C SNV Uncertain Significance
904221 rs182544753 GRCh37: 5:142660646-142660646
GRCh38: 5:143281081-143281081
49 NR3C1 NM_000176.3(NR3C1):c.*534T>C SNV Uncertain Significance
904222 rs924124147 GRCh37: 5:142660920-142660920
GRCh38: 5:143281355-143281355
50 NR3C1 NM_000176.3(NR3C1):c.*293A>C SNV Uncertain Significance
904223 rs1396658562 GRCh37: 5:142661161-142661161
GRCh38: 5:143281596-143281596

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

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 NR3C1 p.Asp641Val VAR_004676 rs104893908
2 NR3C1 p.Val729Ile VAR_004677 rs1027058734
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

Expression for Glucocorticoid Resistance, Generalized

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

Pathways for Glucocorticoid Resistance, Generalized

GO Terms for Glucocorticoid Resistance, Generalized

Sources for Glucocorticoid Resistance, Generalized

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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