GS
MCID: GTL001
MIFTS: 67

Gitelman Syndrome (GS) malady

Nephrological diseases, Genetic diseases categories

Summaries for Gitelman Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Gitelman syndrome is a kidney condition that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. signs and symptoms usually appear in late childhood or adolescence and vary widely. most affected individuals have relatively mild symptoms. common symptoms include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, salt craving, and tingling or prickly sensations in the skin on the face (paresthesias). some experience fatigue, low blood pressure, and a painful joint condition called chondrocalcinosis. it is caused by mutations in the slc12a3 or clcnkb genes and is inherited in an autosomal recessive manner. last updated: 11/25/2011

MalaCards: Gitelman Syndrome, also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria, is related to adenoma and hypertension. An important gene associated with Gitelman Syndrome is SLC12A3 (solute carrier family 12 (sodium/chloride transporter), member 3), and among its related pathways are Axonal growth inhibition (RHOA activation) and Cation-coupled Chloride cotransporters. The compounds nadph and remikiren have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and testes, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Genetics Home Reference:21 Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.

Wikipedia:63 Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic... more...

Description from OMIM:46 263800

Aliases & Classifications for Gitelman Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
gitelman syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

gitelman syndrome 8 9 42 20 21 46 10 44 48 60
hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria 8 42
primary renal tubular hypokalemic hypomagnesemia with hypocalciuria 48
hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria 21
tubular hypomagnesemia-hypokalemia with hypocalcuria 21
familial hypokalemia-hypomagnesemia 21
potassium and magnesium depletion 42
gitelman's syndrome 21
gs 21


External Ids:

Disease Ontology8 DOID:0050450
OMIM46 263800
MeSH34 D053579
MESH via Orphanet35 D053579
ICD10 via Orphanet26 N15.8
SNOMED-CT via Orphanet57 3188003
UMLS via Orphanet61 C0268450

Related Diseases for Gitelman Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Gitelman Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.7REN, CASR
2hypertension30.4AGT, CYBA, REN, RGS2, SLC12A3
3hypokalemia30.4CLCNKB, REN, BSND, CASR, KCNJ1, SLC12A1
4pancreatitis30.0CASR
5focal segmental glomerulosclerosis30.0REN, AGT, RHOA
6leukemia30.0DYT10, ARHGEF1, RHOA, CYBA, HMOX1
7nephrogenic diabetes insipidus29.8CASR, SLC12A1
8alzheimer's disease29.7PVALB, DYT10, RHOA, HMOX1
9atherosclerosis29.7CASR, DYT10, RHOA, AGT, CYBA, HMOX1
10thyroiditis10.5
11pseudohypoparathyroidism10.4
12mccune albright syndrome10.4
13neuroblastoma10.3
14albright's hereditary osteodystrophy10.3
15adult syndrome10.3
16cholera10.2
17pituitary adenoma10.2
18intracranial hypertension10.2
19neuronitis10.2
20familial mediterranean fever10.0
21diabetic ketoacidosis10.0
22focal glomerulosclerosis10.0
23glomerulonephritis10.0
24renal hypertension10.0
25pseudohypoaldosteronism type 110.0
26hypomagnesemia 1, intestinal10.0
27acrodysostosis10.0
28fibrous dysplasia10.0
29hypothyroidism10.0
30influenza10.0
31prostatitis10.0
32retinitis10.0
33gnas hyperfunction10.0
34nephrolithiasis10.0CLCNKB, CASR
35portal hypertension10.0REN
36fibromuscular dysplasia10.0REN
37pseudohypoaldosteronism type ii10.0SLC12A3, REN
38renal tubular dysgenesis10.0REN, AGT
39pseudohypoaldosteronism10.0KCNJ1, REN, SLC12A3
40bartter syndrome, type 210.0KCNJ1, REN, SLC12A1
41hemochromatosis10.0HMOX1, CASR
42pulmonary fibrosis10.0HMOX1, AGT
43coronary heart disease10.0CYBA, AGT
44metabolic acidosis10.0SLC12A1, REN
45uremia10.0DYT10, CASR
46bartter disease10.0SLC12A1, CLCNKB, KCNJ1, BSND
47hyperaldosteronism10.0KCNJ1, REN, CLCNKB, SLC12A3
48polyhydramnios10.0KCNJ1, BSND, CLCNKB, SLC12A1
49myocardial infarction10.0AGT, CYBA, REN
50nephrocalcinosis10.0SLC12A1, CLCNKB, CASR, KCNJ1

Graphical network of the top 20 diseases related to Gitelman Syndrome:



Diseases related to gitelman syndrome

Clinical Features for Gitelman Syndrome

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46OMIM
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Clinical features from OMIM:

263800

Clinical synopsis from OMIM:

263800

Drugs & Therapeutics for Gitelman Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Gitelman Syndrome

Drug clinical trials:

Search ClinicalTrials for Gitelman Syndrome

Search NIH Clinical Center for Gitelman Syndrome

Search CenterWatch for Gitelman Syndrome

Genetic Tests for Gitelman Syndrome

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20GeneTests
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Genetic tests related to Gitelman Syndrome:

id Genetic test Affiliating Genes
1 Gitelman Syndrome20 SLC12A3

Anatomical Context for Gitelman Syndrome

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Gitelman Syndrome:

32
Kidney, Skin, Testes, Bone, Eye

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Gitelman Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyDistal TubuleDistal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Gitelman Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Gitelman Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8SLC12A3, KCNJ1, CASR, GNAQ, BSND, AGT
2MP:00053978.6KCNJ1, CASR, GNAQ, BSND, ARHGEF1, REN
3MP:00053698.5PVALB, CASR, GNAQ, ARHGEF1, AGT, MYH10
4MP:00053858.3KCNJ1, GNAQ, BSND, ARHGEF1, AGT, MYH10
5MP:00053878.3CASR, GNAQ, ARHGEF1, AGT, MYH10, CYBA
6MP:00036318.2GNAQ, BSND, RHOA, AGT, MYH10, REN
7MP:00053788.2KCNJ1, CASR, GNAQ, BSND, AGT, MYH10
8MP:00053768.0ARHGEF1, BSND, GNAQ, CASR, KCNJ1, AGT
9MP:00053867.8BSND, GNAQ, CASR, PVALB, KCNJ1, AGT
10MP:00107687.6BSND, GNAQ, CASR, KCNJ1, RHOA, AGT

Publications for Gitelman Syndrome

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50PubMed
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Articles related to Gitelman Syndrome:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia. (23338926)
2013
2
Gitelman syndrome as a cause of psychomotor retardation in a toddler. (23282232)
2013
3
Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation. (23345488)
2013
4
Adaptation in Gitelman syndrome: "we just want to pump you up". (22344514)
2012
5
Understanding Bartter syndrome and Gitelman syndrome. (22282380)
2012
6
Concomitance of Gitelman syndrome and familial Mediterranean fever: a rare case presentation. (23009175)
2012
7
Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report. (23031616)
2012
8
Gitelman syndrome: novel mutation and long-term follow-up. (21964762)
2012
9
Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. (21705784)
2011
10
Spectrum of mutations in Gitelman syndrome. (21415153)
2011
11
A case of Gitelman syndrome associated with idiopathic intracranial hypertension. (21757836)
2011
12
Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life. (20571093)
2011
13
Second pregnancy outcome in a patient with Gitelman syndrome without the use of parenteral electrolyte supplementation. (21299518)
2011
14
Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome. (21753071)
2011
15
Gitelman syndrome, calcium pyrophosphate dihydrate deposition disease and crowned dens syndrome. A new association? (19952090)
2010
16
Fetal demise despite normalisation of serum potassium in Gitelman syndrome. Case report and literature review. (20618253)
2010
17
Gitelman syndrome with mental retardation: a case report. (20658450)
2010
18
Gitelman syndrome: first report of genetically established diagnosis in Greece. (20411059)
2010
19
Early appearance of hypokalemia in Gitelman syndrome. (20552229)
2010
20
Gitelman syndrome during pregnancy: a therapeutic challenge. (19241082)
2009
21
Gitelman syndrome. (19349556)
2009
22
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. (19207868)
2009
23
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome. (19668106)
2009
24
Acquired Gitelman syndrome in a patient with primary SjAPgren syndrome. (18805608)
2008
25
Hypocalciuria in patients with Gitelman syndrome: role of blood volume. (17472852)
2007
26
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. (17329572)
2007
27
Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data. (17954289)
2007
28
The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe. (17882248)
2007
29
C1q nephropathy in association with Gitelman syndrome: a case report. (16955279)
2006
30
Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found. (17159356)
2006
31
Gitelman syndrome. (16580616)
2006
32
Correction of renal hypertension after kidney transplantation from a donor with Gitelman syndrome. (16479187)
2006
33
Gitelman syndrome: report of three cases and literature review. (16849105)
2006
34
Outcome of pregnancy in a patient with Gitelman syndrome: a case report. (15976513)
2005
35
Normal plasma total magnesium in Gitelman syndrome. (15063827)
2004
36
A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. (14675033)
2004
37
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. (12472765)
2003
38
Hypokalemia and hypomagnesemia of hereditary renal tubular origin. Bartter and Gitelman syndromes. (15055023)
2003
39
Gitelman syndrome: when will it turn into Gitelman disease? (12728368)
2003
40
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. (12112667)
2002
41
Aldosterone influences serum magnesium in Gitelman syndrome. (11015018)
2000
42
Sclerochoroidal calcification associated with Gitelman syndrome. (10612520)
1999
43
A boy presenting with familial short stature--diagnosis Gitelman syndrome. (10614549)
1999
44
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. (10492336)
1999
45
Dose related growth response to indometacin in Gitelman syndrome. (10569969)
1999
46
Gitelman syndrome and chondrocalcinosis. (10069232)
1999
47
Concomitant occurrence of Gitelman and Bartter syndromes in the same family? (9502562)
1998
48
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. (8865231)
1996
49
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. (8900229)
1996
50
Evidence for disturbed regulation of calciotropic hormone metabolism in gitelman syndrome. (7829616)
1995

Genetic Variations for Gitelman Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Gitelman Syndrome:

62 (show all 75)
id Symbol AA change Variation ID SNP ID
1SLC12A3p.Arg209TrpVAR_007113rs28936388
2SLC12A3p.Pro349LeuVAR_007114
3SLC12A3p.Cys421ArgVAR_007115rs28936387
4SLC12A3p.Asp486AsnVAR_007116
5SLC12A3p.Gly496CysVAR_007117
6SLC12A3p.Ala588ValVAR_007119
7SLC12A3p.Gly630ValVAR_007120rs28936389
8SLC12A3p.Arg655HisVAR_007121
9SLC12A3p.Arg655LeuVAR_007122
10SLC12A3p.Gly741ArgVAR_007124rs138977195
11SLC12A3p.Leu850ProVAR_007125
12SLC12A3p.Arg955GlnVAR_007126
13SLC12A3p.Thr60MetVAR_039475
14SLC12A3p.Asp62AsnVAR_039476
15SLC12A3p.Glu68LysVAR_039477
16SLC12A3p.His69AsnVAR_039478
17SLC12A3p.His90TyrVAR_039479
18SLC12A3p.Arg145HisVAR_039480
19SLC12A3p.Val153MetVAR_039481
20SLC12A3p.Ile154PheVAR_039482
21SLC12A3p.Arg158GlnVAR_039483
22SLC12A3p.Thr163MetVAR_039484
23SLC12A3p.Trp172ArgVAR_039485
24SLC12A3p.Ser178LeuVAR_039486
25SLC12A3p.Thr180LysVAR_039487rs146158333
26SLC12A3p.Gly186AspVAR_039488
27SLC12A3p.Arg209GlnVAR_039489rs28936388
28SLC12A3p.Leu215ProVAR_039490
29SLC12A3p.Ala226ThrVAR_039491
30SLC12A3p.Gly230AspVAR_039492
31SLC12A3p.Arg261HisVAR_039493
32SLC12A3p.Ser283TyrVAR_039495
33SLC12A3p.Lys284ArgVAR_039496
34SLC12A3p.Thr304ProVAR_039497
35SLC12A3p.Ala313ValVAR_039498
36SLC12A3p.Gly316ValVAR_039499
37SLC12A3p.Arg321TrpVAR_039500
38SLC12A3p.Arg334TrpVAR_039501
39SLC12A3p.Gly342AlaVAR_039502
40SLC12A3p.Gly374ValVAR_039503
41SLC12A3p.Arg399CysVAR_039504
42SLC12A3p.Gly439SerVAR_039505
43SLC12A3p.Gly463GluVAR_039506
44SLC12A3p.Ala464ThrVAR_039507
45SLC12A3p.Lys478GluVAR_039508
46SLC12A3p.Leu542ProVAR_039509
47SLC12A3p.Ser555LeuVAR_039510
48SLC12A3p.Pro560HisVAR_039511
49SLC12A3p.Ala569GluVAR_039512
50SLC12A3p.Ala569ValVAR_039513
51SLC12A3p.Val578MetVAR_039514rs139329616
52SLC12A3p.Gly613SerVAR_039515
53SLC12A3p.Ser615LeuVAR_039516
54SLC12A3p.Ser615TrpVAR_039517
55SLC12A3p.Leu623ProVAR_039518
56SLC12A3p.Arg642CysVAR_039519rs200697179
57SLC12A3p.Arg642GlyVAR_039520
58SLC12A3p.Arg642HisVAR_039521
59SLC12A3p.Pro643LeuVAR_039522rs140012781
60SLC12A3p.Thr649ArgVAR_039523
61SLC12A3p.Arg655CysVAR_039524
62SLC12A3p.Met672IleVAR_039525
63SLC12A3p.Val677LeuVAR_039526
64SLC12A3p.Val677MetVAR_039527
65SLC12A3p.Gly729ValVAR_039528
66SLC12A3p.Gly731ArgVAR_039529
67SLC12A3p.Leu738ArgVAR_039530
68SLC12A3p.Leu849HisVAR_039531rs185927948
69SLC12A3p.Arg852CysVAR_039532
70SLC12A3p.Arg852HisVAR_039533
71SLC12A3p.Arg852SerVAR_039534
72SLC12A3p.Gly867SerVAR_039535
73SLC12A3p.Arg871HisVAR_039536
74SLC12A3p.Arg958GlyVAR_039539
75SLC12A3p.Cys985TyrVAR_039540rs199849117

Expression for genes affiliated with Gitelman Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gitelman Syndrome

Search GEO for disease gene expression data for Gitelman Syndrome.

Pathways for genes affiliated with Gitelman Syndrome

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53Reactome, 12EMD Millipore, 49PharmGKB, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Gitelman Syndrome

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Gitelman Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1nadph44 2411.6PVALB
2remikiren44 1111.5REN, AGT
3Quinethazone1110.5SLC12A3, SLC12A1
4aliskiren44 1111.4REN, AGT
5bendroflumethiazide44 1111.4REN, SLC12A3
6saralasin4410.3AGT, REN
7forskolin44 49 1112.3AGT, REN, RGS2
8eprosartan44 28 1112.3AGT, REN
9bumetanide44 59 28 1113.2SLC12A5, SLC12A1, SLC12A3
10benazepril44 1111.2AGT, REN
11potassium chloride44 1111.2SLC12A1, SLC12A5, REN
12thiazide4410.2CASR, REN, SLC12A1, SLC12A3
13hydrochlorothiazide44 49 28 11 2414.2SLC12A3, REN, AGT, CASR
14kn 934410.1DYT10, AGT
15inulin4410.1REN, AGT
16apocynin44 5911.0CYBA, AGT, DYT10
17ang ii4410.0DYT10, AGT, REN
18go 697644 5911.0DYT10, RGS2, HMOX1
19glutamate4410.0RHOA, GNAQ, CASR
20diphenyleneiodonium4410.0DYT10, AGT, CYBA
21furosemide44 49 59 28 11 2414.9BSND, REN, SLC12A5, SLC12A1, SLC12A3
22cgmp44 2810.9RHOA, AGT, REN, HMOX1
23neomycin449.8HMOX1, DYT10, CASR
24bisindolylmaleimide449.8RHOA, DYT10, GNAQ
25guanine44 11 2411.8SLC12A3, AGT, RHOA, GNAQ
26mezerein449.8HMOX1, DYT10
27inositol 1,4,5 trisphosphate449.8CASR, GNAQ, DYT10, AGT
28olmesartan44 28 1111.8REN, AGT
29pip2449.7KCNJ1, GNAQ, DYT10, RHOA
30nacl449.7KCNJ1, CASR, BSND, REN, CLCNKB, SLC12A1
31carbachol44 28 1111.6RGS2, RHOA, DYT10, GNAQ
32chlorine44 2410.6BSND, CLCNKB, SLC12A5, SLC12A1, SLC12A3, SLC12A8
33gtp44 2810.6RGS2, AGT, RHOA, ARHGEF1, GNAQ
34nifedipine44 49 28 1112.5DYT10, RHOA, AGT, REN, HMOX1
35sodium44 2410.5KCNJ1, CASR, BSND, AGT, REN, CLCNKB
36pge2449.5CASR, DYT10, AGT, REN, HMOX1, SLC12A1
37n acetylcysteine449.5DYT10, RHOA, AGT, CYBA, HMOX1
38phosphoinositide449.4GNAQ, DYT10, RHOA, AGT, RGS2
39alanine449.4KCNJ1, CASR, RHOA, RGS2, HMOX1, SLC12A3
40magnesium44 11 2411.4KCNJ1, PVALB, CASR, RHOA, AGT, CLCNKB
41adenylate449.3RGS2, AGT, DYT10, GNAQ, CASR
42actinomycin d449.3CASR, DYT10, RHOA, AGT, RGS2, HMOX1
43potassium44 11 2411.3KCNJ1, CASR, GNAQ, BSND, AGT, REN
44arginine449.3KCNJ1, CASR, ARHGEF1, RHOA, AGT, REN
45sb 20358044 5910.2DYT10, RHOA, AGT, HMOX1
46cyclic amp44 2410.1CASR, GNAQ, DYT10, RHOA, RGS2
47chloride449.1SLC12A3, KCNJ1, PVALB, CASR, BSND, REN
48nitric oxide44 11 2410.9PVALB, CASR, GNAQ, RHOA, AGT, CYBA
49tyrosine448.1KCNJ1, PVALB, CASR, GNAQ, DYT10, ARHGEF1
50calcium44 49 11 2410.7RHOA, BSND, DYT10, GNAQ, CASR, PVALB

GO Terms for genes affiliated with Gitelman Syndrome

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16Gene Ontology
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Cellular components related to Gitelman Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.3SLC12A9, CASR, GNAQ, BSND, ARHGEF1, RHOA

Biological processes related to Gitelman Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1renin-angiotensin regulation of aldosterone productionGO:00201810.2AGT, REN
2angiotensin maturationGO:00200310.1REN, AGT
3kidney developmentGO:00182210.0REN, AGT, KCNJ1
4ion transmembrane transportGO:03422010.0SLC12A1, CLCNKB, BSND
5excretionGO:0075889.9HMOX1, CLCNKB, AGT, KCNJ1
6potassium ion transportGO:0068139.6KCNJ1, SLC12A5, SLC12A1, SLC12A8
7transportGO:0068109.6CLCNKB, SLC12A5, SLC12A1, SLC12A3
8transmembrane transportGO:0550859.4SLC12A3, SLC12A1, SLC12A5, HMOX1, CLCNKB, BSND
9negative regulation of neuron apoptotic processGO:0435249.4HMOX1, AGT, RHOA

Molecular functions related to Gitelman Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GTPase activator activityGO:0050969.7RGS2, ARHGEF1, GNAQ

Products for genes affiliated with Gitelman Syndrome

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Sources for Gitelman Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet