Glucocorticoid Resistance, Generalized disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GCCR MCID: GLC106 MIFTS: 48	Glucocorticoid Resistance, Generalized (GCCR) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Endocrine diseases Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Adrenogenital disorders

Other adrenogenital disorders

ICD11: ³³

Endocrine, nutritional or metabolic diseases

Endocrine diseases

Disorders of the adrenal glands or adrenal hormone system

Adrenogenital disorders

46,XX disorders of sex development induced by androgens of fetal origin

Glucocorticoid resistance

Orphanet: ⁵⁸

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

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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...

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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
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:

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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

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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

Budesonide

Approved

Phase 4

51333-22-3

5281004 40000 63006

Hormones

Phase 4

Hormone Antagonists

Phase 4

glucocorticoids

Phase 4

Anti-Inflammatory Agents

Phase 4

Bronchodilator Agents

Phase 4

Anti-Asthmatic Agents

Phase 4

Respiratory System Agents

Phase 4

Racepinephrine

Approved, Vet_approved

Phase 2

51-43-4, 329-65-7

838 5816

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 2

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 2

50-02-2

3003 5743

Spironolactone

Approved

Phase 2

1952-01-7, 52-01-7

5833

Hydrocortisone succinate

Approved

Phase 2

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

Phase 2

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 2

50-23-7

3640 5754

Mifepristone

Approved, Investigational

Phase 2

84371-65-3

55245

Antineoplastic Agents, Hormonal

Phase 2

Antiemetics

Phase 2

Gastrointestinal Agents

Phase 2

Epinephryl borate

Phase 2

Contraceptives, Postcoital

Phase 2

HIV Protease Inhibitors

Phase 2

Contraceptives, Oral

Phase 2

Contraceptive Agents

Phase 2

BB 1101

Phase 2

Hydrocortisone 17-butyrate 21-propionate

Phase 2

protease inhibitors

Phase 2

Diuretics, Potassium Sparing

Phase 2

diuretics

Phase 2

Mineralocorticoids

Phase 2

Mineralocorticoid Receptor Antagonists

Phase 2

Prednisolone phosphate

Approved, Vet_approved

302-25-0

Prednisolone acetate

Approved, Vet_approved

52-21-1

Prednisolone

Approved, Vet_approved

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

83-43-2

4159 6741

Prednisolone hemisuccinate

Experimental

2920-86-7

4897

Neuroprotective Agents

Methylprednisolone Acetate

584547

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

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Genetic Tests for Glucocorticoid Resistance, Generalized

Genetic tests related to Glucocorticoid Resistance, Generalized:

#	Genetic test	Affiliating Genes
1	Glucocorticoid Resistance ²⁸	NR3C1

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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

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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	Karl M...Chrousos GP	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	Hurley DM...Chrousos GP	1704018	1991
3	Primary cortisol resistance: a family study. ⁶² ⁵⁷ ⁵	Chrousos GP...Lipsett MB	6841559	1983
4	Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease. ⁶² ⁵⁷ ⁵	Chrousos GP...Lipsett MB	6282933	1982
5	The defective glucocorticoid receptor in man and nonhuman primates. ⁵⁷ ⁵	Lipsett MB...Loriaux DL	2996089	1985
6	Spontaneous hypercortisolism without Cushing's syndrome. ⁵⁷ ⁵	Vingerhoeds AC...Schwarz F	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	Donner KM...Kontula K	23076843	2013
8	Primary generalized glucocorticoid resistance and hypersensitivity. ⁶² ⁵	Charmandari E	21912096	2011
9	Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder. ⁶² ⁵⁷	Charmandari E...Chrousos GP	18319312	2008
10	Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance. ⁶² ⁵	Charmandari E...Chrousos GP	16449337	2006
11	Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. ⁶² ⁵⁷	Bray PJ...Cotton RG	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	Kino T...Chrousos GP	11701741	2001
13	Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. ⁶² ⁵	Ruiz M...Werner S	11589680	2001
14	Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene. ⁶² ⁵⁷	Huizenga NA...Lamberts SW	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	Nawata H...Ibayashi H	3597702	1987
16	Familial cortisol resistance: differential diagnostic and therapeutic aspects. ⁶² ⁵⁷	Lamberts SW...de Jong FH	3782421	1986
17	Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom. ⁶² ⁵⁷	Bronnegard M...Gustafsson JA	3771797	1986
18	Primary cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family. ⁶² ⁵⁷	Iida S...Tarui S	3980675	1985
19	Glucocorticoid hormone resistance during primate evolution: receptor-mediated mechanisms. ⁵⁷	Chrousos GP...Lipsett MB	6952251	1982
20	Macrophage migration inhibitory factor promotes glucocorticoid resistance of neutrophilic inflammation in a murine model of severe asthma. ⁶²	Allam VSRR...Sukkar MB	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	Deng F...Xu L	35987411	2022
22	Molecular mechanisms of glucocorticoid resistance. ⁶²	Huang H...Wang W	36346177	2022
23	The PMN-MDSC - a key player in glucocorticoid resistance following combined physical and psychosocial trauma. ⁶²	Kempter E...Reber SO	36427809	2022
24	Recent Advances in Nanomaterials for Asthma Treatment. ⁶²	Zuo X...Wang F	36430906	2022
25	Identification of a novel GR-ARID1a-P53BP1 protein complex involved in DNA damage repair and cell cycle regulation. ⁶²	Stubbs FE...Conway-Campbell BL	36344675	2022
26	Chemosensory Dysfunction in Long-Term COVID-19 Assessed by Self-Reported and Direct Psychophysical Methods. ⁶²	Albayay J...Zampini M	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	Dai Y...Wang J	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	Ramayanam NR...Ganesan RM	36139147	2022
29	LRH-1/NR5A2 interacts with the glucocorticoid receptor to regulate glucocorticoid resistance. ⁶²	Michalek S...Brunner T	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	Abele M...Brecht IB	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	Aleshchenko E...Apfelbacher C	36127717	2022
32	Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia. ⁶²	Verouti S...Vanderriele PE	35732960	2022
33	Icariin Improves Glucocorticoid Resistance in a Murine Model of Asthma with Depression Associated with Enhancement of GR Expression and Function. ⁶²	Jin H...Wang L	35850481	2022
34	IL-17A mediates pyroptosis via the ERK pathway and contributes to steroid resistance in CRSwNP. ⁶²	Li Y...Zhang GH	35346673	2022
35	Cortisol resistance in the degu (Octodon degus). ⁶²	Yao YZ...Fuller PJ	35429494	2022
36	Glucocorticoid receptor modulates myeloid-derived suppressor cell function via mitochondrial metabolism in immune thrombocytopenia. ⁶²	Hou Y...Peng J	35414712	2022
37	Impaired glucocorticoid receptor expression and mitochondrial metabolism in MDSCs contribute to glucocorticoid resistance in immune thrombocytopenia. ⁶²	Kapur R	35705696	2022
38	Inhibition of the Sec61 translocon overcomes cytokine-induced glucocorticoid resistance in T-cell acute lymphoblastic leukaemia. ⁶²	Meyer LK...Hermiston ML	35434798	2022
39	Monogenic forms of low-renin hypertension: clinical and molecular insights. ⁶²	Khandelwal P...Deinum J	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	Achajew A...Abele M	35478271	2022
41	Functional and morphologic dysfunctions in the airways of rats submitted to an experimental model of obesity-exacerbated asthma. ⁶²	Ferreira SRD...de Andrade Cavalcante F	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	Van der Zwet JCG...Meijerink JPP	35734930	2022
43	Gene Expression Changes of Murine Cortex Homeostasis in Response to Sleep Deprivation Hint Dysregulated Aging-like Transcriptional Responses. ⁶²	Giannos P...Tartar JL	35884632	2022
44	Cause or consequence? Understanding the role of cortisol in the increased inflammation observed in depression. ⁶²	Amasi-Hartoonian N...Pariante CM	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	Teblick A...Van den Berghe G	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	Zhou Y...Ji C	35240234	2022
47	[The 41,000 long-term survivor cohort of the German Childhood Cancer Registry]. ⁶²	Kaatsch P...Grabow D	35294562	2022
48	Glucocorticoid receptor gene mutations confer glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia. ⁶²	Tamai M...Inukai T	35124168	2022
49	Massively collaborative crowdsourced research on COVID19 and the chemical senses: Insights and outcomes. ⁶²	Weir EM...Hayes JE	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	Tao F...Wang D	35203060	2022

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Genes for Glucocorticoid Resistance, Generalized

Genes related to Glucocorticoid Resistance, Generalized (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	1657.85	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	186477 1704018 2996089 (more) 6282933 6841559 8445027 11589680 11701741 16449337 21912096 23076843 19933394

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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