GS
MCID: GTL001
MIFTS: 67

Gitelman Syndrome (GS) malady

Nephrological diseases, Genetic diseases categories

Summaries for Gitelman Syndrome

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 eye, 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

About this section
Sources:
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
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

263800

Clinical synopsis from OMIM:

263800

Drugs & Therapeutics for Gitelman Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Gitelman Syndrome:

id Genetic test Affiliating Genes
1 Gitelman Syndrome20 SLC12A3

Anatomical Context for Gitelman Syndrome

About this section
Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

MalaCards organs/tissues related to Gitelman Syndrome:

32
Kidney, Skin, Eye, Bone, Testes

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

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Gitelman Syndrome:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Localised normocalcaemic tetany secondary to dehydration in an individual with Gitelman syndrome. (23632612)
2013
2
Gitelman syndrome. (23585506)
2013
3
Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia. (24171002)
2013
4
Abnormal glucose metabolism and insulin sensitivity in Chinese patients with Gitelman syndrome. (23392128)
2013
5
Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. (23328711)
2013
6
Perioperative considerations in patients with Gitelman syndrome: a case series. (22284312)
2012
7
Gitelman syndrome. (22645210)
2012
8
Localization of tubular adaptation to renal sodium loss in Gitelman syndrome. (22241817)
2012
9
Focal segmental glomerulosclerosis in association with Gitelman syndrome. (20625829)
2011
10
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
11
Pancreatic tumor and Gitelman syndrome. (21961106)
2011
12
Second pregnancy outcome in a patient with Gitelman syndrome without the use of parenteral electrolyte supplementation. (21299518)
2011
13
Gitelman syndrome complicated with dysglycemia. (21416147)
2011
14
The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor. (20675610)
2011
15
Quadriparesis in an adult--Gitelman syndrome. (21375174)
2011
16
MER91B-assisted cryptic exon activation in Gitelman syndrome. (20234284)
2010
17
Fetal demise despite normalisation of serum potassium in Gitelman syndrome. Case report and literature review. (20618253)
2010
18
Gitelman syndrome due to p.A204T mutation in CLCNKB gene. (20931281)
2010
19
Gitelman syndrome with mental retardation: a case report. (20658450)
2010
20
Gitelman syndrome: first report of genetically established diagnosis in Greece. (20411059)
2010
21
SPAK-knockout mice manifest Gitelman syndrome and impaired vasoconstriction. (20813865)
2010
22
Early appearance of hypokalemia in Gitelman syndrome. (20552229)
2010
23
Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome. (20848653)
2010
24
Gitelman syndrome during pregnancy: a therapeutic challenge. (19241082)
2009
25
Acquired gitelman syndrome. (21468178)
2009
26
Gitelman syndrome. (18667063)
2008
27
Characterization of a splicing abnormality in Gitelman syndrome. (18501801)
2008
28
Gitelman syndrome and glomerulonephritis. (17043881)
2007
29
Growth, growth hormone testing and response to growth hormone treatment in Gitelman syndrome. (17396444)
2007
30
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. (16429844)
2006
31
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. (17059986)
2006
32
Gitelman syndrome. (16580616)
2006
33
Anesthesia in a patient with Gitelman syndrome. (17065911)
2006
34
Hypokalemic paralysis due to Gitelman syndrome: a family study. (17000984)
2006
35
Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells. (16221718)
2006
36
Rho kinase inhibition and vascular protection: support from studies in Bartter and Gitelman syndrome. (15790936)
2005
37
Inactivation of the Na-Cl co-transporter (NCC) gene is associated with high BMD through both renal and bone mechanisms: analysis of patients with Gitelman syndrome and Ncc null mice. (15824853)
2005
38
A novel splice site mutation of the thiazide-sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome. (15481849)
2004
39
Cardiac work up in primary renal hypokalaemia-hypomagnesaemia (Gitelman syndrome). (15034158)
2004
40
Is normalisation of serum potassium and magnesium always necessary in Gitelman Syndrome for a successful obstetric outcome? (15198796)
2004
41
Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. (14750096)
2004
42
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. (12472765)
2003
43
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. (12112667)
2002
44
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. (12008755)
2002
45
A boy presenting with familial short stature--diagnosis Gitelman syndrome. (10614549)
1999
46
Gitelman syndrome and chondrocalcinosis. (10069232)
1999
47
Magnesium supplementation in Gitelman syndrome. (10454780)
1999
48
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. (9734597)
1998
49
Gitelman syndrome comes of age. (9681697)
1998
50
Gitelman syndrome and hypocalciuria. (1285778)
1992

Genetic Variations for Gitelman Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 12EMD Millipore, 49PharmGKB, 29KEGG, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Gitelman Syndrome

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
See all sources

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
3Quinethazone1110.5SLC12A1, SLC12A3
4bendroflumethiazide44 1111.4REN, SLC12A3
5aliskiren44 1111.4AGT, REN
6saralasin4410.3REN, AGT
7forskolin44 49 1112.3RGS2, AGT, REN
8benazepril44 1111.3AGT, REN
9bumetanide44 59 28 1113.2SLC12A5, SLC12A3, SLC12A1
10eprosartan44 28 1112.2AGT, REN
11potassium chloride44 1111.2REN, SLC12A1, SLC12A5
12thiazide4410.2SLC12A1, SLC12A3, REN, CASR
13hydrochlorothiazide44 49 28 11 2414.2CASR, AGT, REN, SLC12A3
14kn 934410.1DYT10, AGT
15inulin4410.1REN, AGT
16apocynin44 5911.0AGT, DYT10, CYBA
17ang ii4410.0AGT, REN, DYT10
18go 697644 5911.0DYT10, RGS2, HMOX1
19glutamate4410.0GNAQ, CASR, RHOA
20diphenyleneiodonium4410.0DYT10, CYBA, AGT
21furosemide44 49 59 28 11 2414.9REN, SLC12A5, SLC12A1, SLC12A3, BSND
22cgmp44 2810.9HMOX1, AGT, RHOA, REN
23neomycin449.8HMOX1, CASR, DYT10
24bisindolylmaleimide449.8RHOA, GNAQ, DYT10
25guanine44 11 2411.8RHOA, SLC12A3, AGT, GNAQ
26mezerein449.8DYT10, HMOX1
27inositol 1,4,5 trisphosphate449.8DYT10, AGT, GNAQ, CASR
28olmesartan44 28 1111.8AGT, REN
29pip2449.7GNAQ, RHOA, DYT10, KCNJ1
30nacl449.7CASR, REN, CLCNKB, SLC12A1, SLC12A3, KCNJ1
31carbachol44 28 1111.6DYT10, RGS2, GNAQ, RHOA
32chlorine44 2410.6BSND, CLCNKB, SLC12A5, SLC12A1, SLC12A3, SLC12A8
33gtp44 2810.6GNAQ, RGS2, RHOA, ARHGEF1, AGT
34nifedipine44 49 28 1112.5REN, AGT, HMOX1, RHOA, DYT10
35sodium44 2410.5SLC12A3, SLC12A1, CLCNKB, AGT, REN, BSND
36pge2449.5SLC12A1, AGT, CASR, DYT10, REN, HMOX1
37n acetylcysteine449.5HMOX1, CYBA, AGT, RHOA, DYT10
38phosphoinositide449.4RGS2, RHOA, DYT10, GNAQ, AGT
39alanine449.4KCNJ1, CASR, SLC12A3, HMOX1, RHOA, RGS2
40magnesium44 11 2411.4CLCNKB, SLC12A1, KCNJ1, PVALB, RHOA, AGT
41adenylate449.3AGT, DYT10, CASR, RGS2, GNAQ
42actinomycin d449.3RGS2, AGT, RHOA, DYT10, CASR, HMOX1
43potassium44 11 2411.3CLCNKB, KCNJ1, CASR, GNAQ, SLC12A3, AGT
44arginine449.3REN, HMOX1, RHOA, ARHGEF1, CASR, KCNJ1
45sb 20358044 5910.2RHOA, DYT10, HMOX1, AGT
46cyclic amp44 2410.1DYT10, CASR, RHOA, GNAQ, RGS2
47chloride449.1PVALB, CLCNKB, KCNJ1, CASR, BSND, REN
48nitric oxide44 11 2410.9CASR, CYBA, HMOX1, SLC12A1, REN, AGT
49tyrosine448.1SLC12A5, KCNJ1, PVALB, CASR, RGS2, CYBA
50calcium44 49 11 2410.7CYBA, RHOA, CLCNKB, RGS2, SLC12A5, SLC12A1

GO Terms for genes affiliated with Gitelman Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gitelman Syndrome

About this section
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