Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

MalaCards integrated aliases for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

Name: Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency ⁵⁷ ⁷³ ⁵

Gccd4 ⁵⁷ ⁷³

Glucocorticoid Deficiency 4, with or Without Mineralocorticoid Deficiency ⁵⁷

Familial Glucocorticoid Deficiency 4 ⁷³

Glucocorticoid Deficiency 4 ⁷¹

Fgd4 ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable features may be present
patients may present with recurrent illnesses or infections, or shock
disease is life-threatening if untreated

Classifications:

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

See all MalaCards categories (disease lists)

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Summaries for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

UniProtKB/Swiss-Prot: ⁷³ A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.

MalaCards based summary: Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency, also known as gccd4, is related to charcot-marie-tooth disease, type 4h and charcot-marie-tooth disease. An important gene associated with Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency is NNT (Nicotinamide Nucleotide Transhydrogenase). Affiliated tissues include adrenal cortex, cortex and prostate, and related phenotypes are precocious puberty and cryptorchidism

OMIM®: ⁵⁷ Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). (614736) (Updated 08-Dec-2022)

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Related Diseases for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Diseases related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Related Disease	Score
1	charcot-marie-tooth disease, type 4h	11.4
2	charcot-marie-tooth disease	11.2
3	tooth disease	11.2
4	neuropathy	11.1
5	neuropathy, congenital hypomyelinating, 1, autosomal recessive	11.1
6	charcot-marie-tooth disease, axonal, type 2e	11.1
7	charcot-marie-tooth disease and deafness	11.0
8	aarskog-scott syndrome	11.0
9	peripheral nervous system disease	10.9
10	charcot-marie-tooth disease, demyelinating, type 1b	10.9
11	charcot-marie-tooth disease, demyelinating, type 1a	10.8
12	hypertrophic neuropathy of dejerine-sottas	10.8
13	neuropathy, hereditary, with liability to pressure palsies	10.8
14	charcot-marie-tooth disease, type 4a	10.8
15	charcot-marie-tooth disease, demyelinating, type 1c	10.8
16	charcot-marie-tooth disease, type 4b1	10.8
17	charcot-marie-tooth disease, type 4d	10.8
18	charcot-marie-tooth disease, type 4c	10.8
19	charcot-marie-tooth disease, type 4b2	10.8
20	neuropathy, hereditary motor and sensory, russe type	10.8
21	charcot-marie-tooth disease, dominant intermediate b	10.8
22	charcot-marie-tooth disease, demyelinating, type 1f	10.8
23	charcot-marie-tooth disease, type 4j	10.8
24	charcot-marie-tooth disease, dominant intermediate e	10.8
25	charcot-marie-tooth disease, demyelinating, type 4f	10.8
26	charcot-marie-tooth disease, type 4b3	10.8
27	charcot-marie-tooth disease, recessive intermediate c	10.8
28	charcot-marie-tooth disease, axonal, type 2t	10.8
29	charcot-marie-tooth disease intermediate type	10.8
30	polyneuropathy due to drug	10.8
31	sensory peripheral neuropathy	10.8
32	neuromuscular disease	10.8
33	roussy-levy hereditary areflexic dystasia	10.4
34	hereditary sensory neuropathy	10.4
35	scoliosis	10.2
36	hereditary neuropathies	10.0
37	alcohol dependence	9.8
38	amyotrophic lateral sclerosis 1	9.8
39	esophageal cancer	9.8
40	polycystic ovary syndrome 1	9.8
41	glucocorticoid deficiency 1	9.8
42	kearns-sayre syndrome	9.8
43	prostatic hyperplasia, benign	9.8
44	nasopharyngeal carcinoma	9.8
45	ewing sarcoma	9.8
46	pachyonychia congenita 3	9.8
47	tatton-brown-rahman syndrome	9.8
48	generalized epilepsy with febrile seizures plus	9.8
49	cauda equina syndrome	9.8
50	polycystic ovary syndrome	9.8

Graphical network of the top 20 diseases related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

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Symptoms & Phenotypes for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Human phenotypes related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

³⁰ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	precocious puberty ³⁰	Occasional (7.5%)	HP:0000826
2	cryptorchidism ³⁰	Occasional (7.5%)	HP:0000028
3	hyponatremia ³⁰	Occasional (7.5%)	HP:0002902
4	hyperkalemia ³⁰	Occasional (7.5%)	HP:0002153
5	congenital hypothyroidism ³⁰	Occasional (7.5%)	HP:0000851
6	renal salt wasting ³⁰	Occasional (7.5%)	HP:0000127
7	hypoglycemic coma ³⁰	Occasional (7.5%)	HP:0001325
8	seizure ³⁰		HP:0001250
9	failure to thrive ³⁰		HP:0001508
10	hypoglycemia ³⁰		HP:0001943

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Growth Other:
failure to thrive

Endocrine Features:
precocious puberty
hypothyroidism, congenital (rare)

Genitourinary Internal Genitalia Male:
cryptorchidism
testicular enlargement
testicular adrenal rest tumors
leydig cell tumors

Skin Nails Hair Skin:
hyperpigmentation

Genitourinary External Genitalia Male:
precocious puberty

Metabolic Features:
hypoglycemia
salt wasting
addisonian crisis

Laboratory Abnormalities:
hyponatremia
hyperkalemia
elevated acth
low cortisol level
unresponsive to acth stimulation
more

Neurologic Central Nervous System:
seizures, hypoglycemic
coma, hypoglycemic

Clinical features from OMIM®:

614736 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Search Clinical Trials, NIH Clinical Center for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency

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Genetic Tests for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

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Anatomical Context for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Organs/tissues related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

MalaCards : Adrenal Cortex, Cortex, Prostate, Breast, Retina, Neutrophil, Brain

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Publications for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Articles related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

(show top 50) (show all 61)

#	Title	Authors	PMID	Year
1	NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects. ⁵⁷ ⁵	Roucher-Boulez F...Morel Y	27129361	2016
2	A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. ⁵⁷ ⁵	Yamaguchi R...Ogata T	23474776	2013
3	Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. ⁵⁷ ⁵	Meimaridou E...Metherell LA	22634753	2012
4	Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. ⁵	Mor-Shaked H...Harel T	33223529	2021
5	Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency. ⁵⁷	Hershkovitz E...Parvari R	25879317	2015
6	Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress. ⁵⁷	Weinberg-Shukron A...Zangen D	26070314	2015
7	Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. ⁶²	El-Bazzal L...Bernard-Marissal N	36314052	2022
8	Integrated Analysis of Cortex Single-Cell Transcriptome and Serum Proteome Reveals the Novel Biomarkers in Alzheimer's Disease. ⁶²	Yu QS...Liu J	36009085	2022
9	Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients. ⁶²	van de Velde ME...Kaspers GJL	35884569	2022
10	Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review. ⁶²	Yalcouye A...Wonkam A	35383421	2022
11	Atorvastatin reduces IOP in ocular hypertension in vivo and suppresses ECM in trabecular meshwork perhaps via FGD4. ⁶²	Song XY...Zhang YY	35417030	2022
12	Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4. ⁶²	Dittmer KE...Littlejohn MD	35300540	2022
13	Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening. ⁶²	Aoki S...Ikeda Y	34148957	2021
14	Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes. ⁶²	Reynolds EGM...Littlejohn MD	34045765	2021
15	Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma. ⁶²	Yang Y...Zhang X	33709789	2021
16	Phase II study of eribulin in combination with gemcitabine for the treatment of patients with locally advanced or metastatic triple negative breast cancer (ERIGE trial). Clinical and pharmacogenetic results on behalf of the Gruppo Oncologico Italiano di Ricerca Clinica (GOIRC). ⁶²	Pellegrino B...Musolino A	33399082	2021
17	The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. ⁶²	Yalcintepe S...Temel SG	34169998	2021
18	Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy. ⁶²	Chen Y...Hertz DL	32700628	2020
19	MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4. ⁶²	Lin J...Huang J	32772928	2020
20	Global Gene Expression Characterization of Circulating Tumor Cells in Metastasic Castration-Resistant Prostate Cancer Patients. ⁶²	Leon-Mateos L...Muinelo-Romay L	32630240	2020
21	A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. ⁶²	van der Weyden L...Adams DJ	32245826	2020
22	Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. ⁶²	Mortreux J...Bonello-Palot N	31852984	2020
23	Identification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosis. ⁶²	Wei L...Wang K	31872054	2019
24	FGD4 (Frabin) Overexpression in Pancreatic Neuroendocrine Neoplasms. ⁶²	Shahid M...Coppola D	31688594	2019
25	A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4. ⁶²	Argente-Escrig H...Sevilla T	31152969	2019
26	Tswana traditional health practitioners' perspectives on the management of diabetes and hypertension: a qualitative study using focus group discussions. ⁶²	Frimpong E...Nlooto M	31934236	2019
27	Expression of FGD4 positively correlates with the aggressive phenotype of prostate cancer. ⁶²	Bossan A...Chakrabarti R	30558664	2018
28	Predictive biomarkers of chemotherapy-induced peripheral neuropathy: a review. ⁶²	Diaz PL...DeAngelis C	30044129	2018
29	Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. ⁶²	Dohrn MF...Biskup S	28902413	2017
30	A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement. ⁶²	Kondo D...Kira JI	28847448	2017
31	A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease. ⁶²	Zis P...Hadjivassiliou M	28543957	2017
32	Hyperglycaemic memory affects the neurovascular unit of the retina in a diabetic mouse model. ⁶²	Friedrichs P...Hammes HP	28321468	2017
33	Mechanisms of Impaired Neutrophil Migration by MicroRNAs in Myelodysplastic Syndromes. ⁶²	Cao M...Kimura J	28130497	2017
34	Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients. ⁶²	Lam SW...Boven E	27736846	2016
35	Sex-specific variation in signaling pathways and gene expression patterns in human leukocytes in response to endotoxin and exercise. ⁶²	Abbasi A...Northoff H	27832807	2016
36	The other face of miR-17-92a cluster, exhibiting tumor suppressor effects in prostate cancer. ⁶²	Ottman R...Chakrabarti R	27650539	2016
37	Testing of candidate single nucleotide variants associated with paclitaxel neuropathy in the trial NCCTG N08C1 (Alliance). ⁶²	Boora GK...Beutler AS	26763541	2016
38	[Peroneal myoatrophy type 4H FGD4 new gene mutation in one case and literature review]. ⁶²	Yan C...Gao F	26957070	2016
39	Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. ⁶²	Hyun YS...Chung KW	26400421	2015
40	Silencing of Taxol-Sensitizer Genes in Cancer Cells: Lack of Sensitization Effects. ⁶²	Huang SL...Chao CC	26086592	2015
41	Aluminum Nanoparticles Induce ERK and p38MAPK Activation in Rat Brain. ⁶²	Kwon JT...Choi K	24386518	2013
42	Charcot-Marie-Tooth Neuropathy Type 4H – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶²	Delague V	23926620	2013
43	The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation. ⁶²	Arai H...Tanabe Y	23770104	2013
44	A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. ⁶²	Boubaker C...Delague V	23550889	2013
45	Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. ⁶²	Tazir M...Vallat JM	23781959	2013
46	Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan. ⁶²	Hayashi M...Hayasaka K	23466821	2013
47	p63RhoGEF-mediated formation of a single polarized lamellipodium is required for chemotactic migration in breast carcinoma cells. ⁶²	Hayashi A...Mizuno K	23380069	2013
48	Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. ⁶²	Horn M...Suter U	23171661	2012
49	A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101. ⁶²	Baldwin RM...Kroetz DL	22843789	2012
50	Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). ⁶²	Baudot C...Delague V	22734899	2012

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Genes for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Genes related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NNT	Nicotinamide Nucleotide Transhydrogenase	Protein Coding	1233.49	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	22634753 23474776 27129361 (more) 33223529

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Variations for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

ClinVar genetic disease variations for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

⁵ (show all 26)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NNT	NM_182977.3(NNT):c.1598C>T (p.Ala533Val)	SNV	Pathogenic	35538	rs387907232	GRCh37: 5:43649402-43649402 GRCh38: 5:43649300-43649300
2	NNT	NM_182977.3(NNT):c.600-1del	DEL	Pathogenic	35539	rs786205344	GRCh37: 5:43619133-43619133 GRCh38: 5:43619031-43619031
3	NNT	NM_182977.3(NNT):c.2930T>C (p.Leu977Pro)	SNV	Pathogenic	35540	rs387907233	GRCh37: 5:43700274-43700274 GRCh38: 5:43700172-43700172
4	NNT	NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer)	DEL	Pathogenic	35541	rs786205345	GRCh37: 5:43644719-43644722 GRCh38: 5:43644617-43644620
5	NNT	NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro)	SNV	Pathogenic	35543	rs387907234	GRCh37: 5:43702749-43702749 GRCh38: 5:43702647-43702647
6	NNT	NM_182977.3(NNT):c.1259dup (p.His421fs)	DUP	Pathogenic	218365	rs864309519	GRCh37: 5:43644870-43644871 GRCh38: 5:43644768-43644769
7	NNT	NM_182977.3(NNT):c.644T>C (p.Phe215Ser)	SNV	Pathogenic	265839	rs886039786	GRCh37: 5:43619178-43619178 GRCh38: 5:43619076-43619076
8	NNT	NM_182977.3(NNT):c.385C>T (p.Arg129Ter)	SNV	Pathogenic	265843	rs886039789	GRCh37: 5:43615953-43615953 GRCh38: 5:43615851-43615851
9	NNT	NM_182977.3(NNT):c.211C>T (p.Arg71Ter)	SNV	Pathogenic	265844	rs886039790	GRCh37: 5:43613069-43613069 GRCh38: 5:43612967-43612967
10	NNT	NM_182977.3(NNT):c.2274del (p.Ile758fs)	DEL	Pathogenic	1119993		GRCh37: 5:43656155-43656155 GRCh38: 5:43656053-43656053
11	NNT	NM_182977.3(NNT):c.1089del (p.Leu362_Tyr363insTer)	DEL	Pathogenic	1705295		GRCh37: 5:43644418-43644418 GRCh38: 5:43644316-43644316
12	NNT	NM_182977.3(NNT):c.2635-1G>T	SNV	Pathogenic	1705519		GRCh37: 5:43675612-43675612 GRCh38: 5:43675510-43675510
13	NNT	NM_182977.3(NNT):c.3027T>G (p.Asn1009Lys)	SNV	Pathogenic	35542	rs370273690	GRCh37: 5:43702754-43702754 GRCh38: 5:43702652-43702652
14	NNT	NM_182977.3(NNT):c.98dup (p.Leu33fs)	DUP	Likely Pathogenic	800942	rs1579966821	GRCh37: 5:43609389-43609390 GRCh38: 5:43609287-43609288
15	NNT	NM_182977.3(NNT):c.1575dup (p.Pro526fs)	DUP	Likely Pathogenic	930557	rs1739624229	GRCh37: 5:43649378-43649379 GRCh38: 5:43649276-43649277
16	NNT	NM_182977.3(NNT):c.598G>A (p.Gly200Ser)	SNV	Likely Pathogenic	265842	rs886039788	GRCh37: 5:43616166-43616166 GRCh38: 5:43616064-43616064
17	NNT	NM_182977.3(NNT):c.1424C>T (p.Thr475Met)	SNV	Uncertain Significance	1030250	rs141791856	GRCh37: 5:43645592-43645592 GRCh38: 5:43645490-43645490
18	NNT	NM_182977.3(NNT):c.1817T>C (p.Val606Ala)	SNV	Uncertain Significance	1030251	rs139379760	GRCh37: 5:43651940-43651940 GRCh38: 5:43651838-43651838
19	NNT	NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)	SNV	Uncertain Significance	1030252	rs41271081	GRCh37: 5:43653136-43653136 GRCh38: 5:43653034-43653034
20	NNT	NM_182977.3(NNT):c.2778C>A (p.Ser926Arg)	SNV	Uncertain Significance	1030253	rs1451092520	GRCh37: 5:43675756-43675756 GRCh38: 5:43675654-43675654
21	NNT	NM_182977.3(NNT):c.1822G>A (p.Gly608Arg)	SNV	Uncertain Significance	1687180		GRCh37: 5:43651945-43651945 GRCh38: 5:43651843-43651843
22	NNT	NM_182977.3(NNT):c.-26T>C	SNV	Benign	1325907		GRCh37: 5:43609272-43609272 GRCh38: 5:43609170-43609170
23	NNT	NM_182977.3(NNT):c.152-26_152-25insA	INSERT	Benign	1325908		GRCh37: 5:43612984-43612985 GRCh38: 5:43612882-43612883
24	NNT	NM_182977.3(NNT):c.80G>A (p.Arg27His)	SNV	Benign	703892	rs34241095	GRCh37: 5:43609377-43609377 GRCh38: 5:43609275-43609275
25	NNT	NM_182977.3(NNT):c.1098+17T>C	SNV	Benign	931319	rs16873430	GRCh37: 5:43644444-43644444 GRCh38: 5:43644342-43644342
26	NNT	NM_182977.3(NNT):c.46C>T (p.Leu16=)	SNV	Benign	1174913		GRCh37: 5:43609343-43609343 GRCh38: 5:43609241-43609241

UniProtKB/Swiss-Prot genetic disease variations for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

⁷³ (show all 11)

#	Symbol	AA change	Variation ID	SNP ID
1	NNT	p.Ser193Asn	VAR_068781	rs867004061
2	NNT	p.Thr357Ala	VAR_068782	rs1447408865
3	NNT	p.His365Pro	VAR_068783
4	NNT	p.Pro437Leu	VAR_068784	rs781183677
5	NNT	p.Ala533Val	VAR_068785	rs387907232
6	NNT	p.Gly664Arg	VAR_068786	rs371979800
7	NNT	p.Gly678Arg	VAR_068787
8	NNT	p.Gly862Asp	VAR_068788	rs1474421419
9	NNT	p.Leu977Pro	VAR_068789	rs387907233
10	NNT	p.Ala1008Pro	VAR_068790	rs387907234
11	NNT	p.Asn1009Lys	VAR_068791	rs370273690

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Expression for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Search GEO for disease gene expression data for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency.

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Pathways for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

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GO Terms for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

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Sources for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

¹ BitterDB

² CDC

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

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²⁶ GEO DataSets

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²⁹ HMDB

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³¹ ICD10

³² ICD10 via Orphanet

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³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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⁴⁰ MedGen

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⁵¹ NIH Clinical Center

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⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁵ R&D Systems

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⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

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GCCD4 MCID: GLC105 MIFTS: 33	Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency (GCCD4) Categories: Endocrine diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency (GCCD4)

Aliases & Classifications for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

MalaCards integrated aliases for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

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Summaries for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

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Symptoms & Phenotypes for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

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Variations for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

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