GS
MCID: GTL001
MIFTS: 64

Gitelman Syndrome (GS) malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Gitelman Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 hypokalemia 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 Ion channel transport and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The compounds bendroflumethiazide and remikiren have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and eye, and related mouse phenotypes are muscle and cardiovascular system.

Genetics Home Reference:22 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:66 Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic... more...

Description from OMIM:48 263800

Aliases & Classifications for Gitelman Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 50 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

50
gitelman syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

gitelman syndrome 9 10 44 21 22 48 11 46 50 63
hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria 9 44
hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria 22
primary renal tubular hypokalemic hypomagnesemia with hypocalciuria 50
tubular hypomagnesemia-hypokalemia with hypocalcuria 22
familial hypokalemia-hypomagnesemia 22
potassium and magnesium depletion 44
gitelman's syndrome 22
gs 22


External Ids:

Disease Ontology9 DOID:0050450
MeSH36 D053579
OMIM48 263800
MESH via Orphanet37 D053579
ICD10 via Orphanet27 N15.8
SNOMED-CT via Orphanet60 3188003
UMLS via Orphanet64 C0268450

Related Diseases for Gitelman Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Gitelman Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1hypokalemia30.4KCNJ1, CLCNKB, REN, BSND, CASR, SLC12A1
2hypertension30.4NOS3, REN, WNK1, SLC12A3, AGT
3nephrogenic diabetes insipidus30.0SLC12A1
4impotence29.9NOS3, DYT10
5atherosclerosis29.7CASR, DYT10, AGT, NOS3
6adenoma10.5
7thyroiditis10.5
8pseudohypoparathyroidism10.5
9mccune albright syndrome10.4
10neuroblastoma10.4
11albright's hereditary osteodystrophy10.3
12thyroid adenoma10.3
13cholera10.3
14pituitary adenoma10.3
15pituitary tumors10.3
16intracranial hypertension10.2
17neuronitis10.1
18multiple endocrine neoplasia10.1
19fibromuscular dysplasia10.1REN
20low renin hypertension10.1REN
21autonomic neuropathy10.1REN
22diabetic macular edema10.1DYT10
23renal tubular dysgenesis10.1REN, AGT
24nephrolithiasis10.1CASR, CLCNKB
25fibrous dysplasia10.1
26acrodysostosis10.1
27hypothyroidism10.1
28influenza10.1
29leukemia10.1
30prostatitis10.1
31retinitis10.1
32dysautonomia10.1
33gnas hyperfunction10.1
34bartter syndrome, type 210.1KCNJ1, SLC12A1, REN
35renal fibrosis10.1REN, AGT
36diabetic ketoacidosis10.1
37familial mediterranean fever10.1
38focal segmental glomerulosclerosis10.1
39glomerulonephritis10.1
40glomerulosclerosis10.1
41pancreatitis10.1
42renal hypertension10.1
43mental retardation10.1
44pseudohypoaldosteronism type 110.1
45short stature10.1
46hypomagnesemia 1, intestinal10.1
47bartter disease10.0SLC12A1, BSND, CLCNKB, KCNJ1
48polyhydramnios10.0SLC12A1, BSND, KCNJ1, CLCNKB
49hyperaldosteronism10.0CLCNKB, KCNJ1, REN, SLC12A3
50nephrocalcinosis10.0SLC12A1, CLCNKB, KCNJ1, CASR

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



Diseases related to gitelman syndrome

Symptoms for Gitelman Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

263800

Clinical features from OMIM:

263800

Drugs & Therapeutics for Gitelman Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests
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Genetic tests related to Gitelman Syndrome:

id Genetic test Affiliating Genes
1 Gitelman Syndrome21 SLC12A3

Anatomical Context for Gitelman Syndrome

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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Gitelman Syndrome:

34
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

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38MGI
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MGI Mouse Phenotypes related to Gitelman Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6REN, WNK1, CASR, NOS3, AGT
2MP:00053857.9KCNJ1, REN, WNK1, NOS3, SLC12A1, SLC12A3
3MP:00053977.8KCNJ1, REN, WNK1, CASR, NOS3, SLC12A1
4MP:00053677.7NOS3, KCNJ1, SLC12A3, SLC12A1, AGT, CASR
5MP:00053767.5BSND, KCNJ1, REN, WNK1, CASR, NOS3
6MP:00053867.5SLC12A1, NOS3, CASR, REN, KCNJ1, SLC12A5
7MP:00053787.2BSND, KCNJ1, REN, WNK1, CASR, NOS3
8MP:00107687.0SLC12A5, BSND, SLC12A1, NOS3, CASR, WNK1

Publications for Gitelman Syndrome

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53PubMed
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Articles related to Gitelman Syndrome:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Localised normocalcaemic tetany secondary to dehydration in an individual with Gitelman syndrome. (23632612)
2013
2
Gitelman syndrome. (23585506)
2013
3
Renal phosphate handling in Gitelman syndrome--the results of a case-control study. (22990302)
2013
4
A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia. (23338926)
2013
5
Gitelman syndrome as a cause of psychomotor retardation in a toddler. (23282232)
2013
6
Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia. (24171002)
2013
7
Abnormal glucose metabolism and insulin sensitivity in Chinese patients with Gitelman syndrome. (23392128)
2013
8
Adaptation in Gitelman syndrome: "we just want to pump you up". (22344514)
2012
9
Perioperative considerations in patients with Gitelman syndrome: a case series. (22284312)
2012
10
Understanding Bartter syndrome and Gitelman syndrome. (22282380)
2012
11
Gitelman syndrome. (22645210)
2012
12
Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. (21705784)
2011
13
Focal segmental glomerulosclerosis in association with Gitelman syndrome. (20625829)
2011
14
Spectrum of mutations in Gitelman syndrome. (21415153)
2011
15
A case of Gitelman syndrome associated with idiopathic intracranial hypertension. (21757836)
2011
16
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
17
MER91B-assisted cryptic exon activation in Gitelman syndrome. (20234284)
2010
18
Gitelman syndrome, calcium pyrophosphate dihydrate deposition disease and crowned dens syndrome. A new association? (19952090)
2010
19
Fetal demise despite normalisation of serum potassium in Gitelman syndrome. Case report and literature review. (20618253)
2010
20
Gitelman syndrome due to p.A204T mutation in CLCNKB gene. (20931281)
2010
21
Gitelman syndrome during pregnancy: a therapeutic challenge. (19241082)
2009
22
Acquired gitelman syndrome. (21468178)
2009
23
Gitelman syndrome. (19349556)
2009
24
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. (19207868)
2009
25
Gitelman syndrome. (18667063)
2008
26
Characterization of a splicing abnormality in Gitelman syndrome. (18501801)
2008
27
Hypocalciuria in patients with Gitelman syndrome: role of blood volume. (17472852)
2007
28
Gitelman syndrome and glomerulonephritis. (17043881)
2007
29
Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption. (16854846)
2006
30
C1q nephropathy in association with Gitelman syndrome: a case report. (16955279)
2006
31
Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found. (17159356)
2006
32
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. (16429844)
2006
33
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. (17059986)
2006
34
Gitelman syndrome. (16580616)
2006
35
A woman with red eyes and hypokalemia: a case of acquired Gitelman syndrome. (16794762)
2006
36
Sclerochoroidal calcification associated with Gitelman syndrome and calcium pyrophosphate dihydrate deposition. (16311360)
2005
37
A novel splice site mutation of the thiazide-sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome. (15481849)
2004
38
Cardiac work up in primary renal hypokalaemia-hypomagnesaemia (Gitelman syndrome). (15034158)
2004
39
Functional Gitelman syndrome? (14981619)
2004
40
Normal plasma total magnesium in Gitelman syndrome. (15063827)
2004
41
Is normalisation of serum potassium and magnesium always necessary in Gitelman Syndrome for a successful obstetric outcome? (15198796)
2004
42
Gitelman syndrome. An overlooked disease with chronic hypomagnesemia and hypokalemia in adults]. (12677988)
2003
43
Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. (12185467)
2002
44
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes. (11532083)
2001
45
Sclerochoroidal calcification associated with Gitelman syndrome. (10612520)
1999
46
A boy presenting with familial short stature--diagnosis Gitelman syndrome. (10614549)
1999
47
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. (10492336)
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

Variations for Gitelman Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Gitelman Syndrome:

65 (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

Clinvar genetic disease variations for Gitelman Syndrome:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1SLC12A3NM_000339.2(SLC12A3): c.179C> T (p.Thr60Met)single nucleotide variantPathogenicGRCh38Chr 16, 56865414: 56865414
2SLC12A3NM_000339.2(SLC12A3): c.2576T> C (p.Leu859Pro)single nucleotide variantPathogenicrs121909379GRCh37Chr 16, 56928470: 56928470
3SLC12A3NM_000339.2(SLC12A3): c.1261T> C (p.Cys421Arg)single nucleotide variantPathogenicrs28936387GRCh37Chr 16, 56913065: 56913065
4SLC12A3NM_000339.2(SLC12A3): c.625C> T (p.Arg209Trp)single nucleotide variantPathogenicrs28936388GRCh37Chr 16, 56904031: 56904031
5SLC12A3SLC12A3, IVS15AS, G-T, -1single nucleotide variantPathogenic
6SLC12A3NM_000339.2(SLC12A3): c.1964G> A (p.Arg655His)single nucleotide variantPathogenicrs121909380GRCh37Chr 16, 56920314: 56920314
7SLC12A3NM_000339.2(SLC12A3): c.1964G> T (p.Arg655Leu)single nucleotide variantPathogenicrs121909380GRCh37Chr 16, 56920314: 56920314
8SLC12A3SLC12A3, IVS23DS, G-T, +1single nucleotide variantPathogenic
9SLC12A3NM_000339.2(SLC12A3): c.1763C> T (p.Ala588Val)single nucleotide variantPathogenicrs121909382GRCh37Chr 16, 56918054: 56918054
10SLC12A3NM_000339.2(SLC12A3): c.1046C> T (p.Pro349Leu)single nucleotide variantPathogenicrs121909383GRCh37Chr 16, 56906649: 56906649
11SLC12A3SLC12A3, 3-BP DELdeletionPathogenic
12SLC12A3NM_000339.2(SLC12A3): c.1889G> T (p.Gly630Val)single nucleotide variantPathogenicrs121909384GRCh37Chr 16, 56919240: 56919240
13SLC12A3NM_000339.2(SLC12A3): c.1868T> C (p.Leu623Pro)single nucleotide variantPathogenicrs121909385GRCh37Chr 16, 56919219: 56919219
14SLC12A3NM_000339.2(SLC12A3): c.488C> T (p.Thr163Met)single nucleotide variantPathogenicrs267607050GRCh37Chr 16, 56902267: 56902267
15SLC12A3SLC12A3, 2-BP DEL, 2881AGdeletionPathogenic

Expression for genes affiliated with Gitelman Syndrome

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 52PharmGKB, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Gitelman Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5BSND, CLCNKB, WNK1
2
Show member pathways
9.3AGT, NOS3, REN
38.7SLC12A3, CLCNKB, WNK1, SLC12A1, BSND, KCNJ1
4
Show member pathways
8.4WNK1, SLC12A1, BSND, SLC12A3, SLC12A5, CLCNKB

Compounds for genes affiliated with Gitelman Syndrome

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46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 25HMDB, 62Tocris Bioscience
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Compounds related to Gitelman Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1bendroflumethiazide46 1211.3REN, SLC12A3
2remikiren46 1211.1AGT, REN
3aliskiren46 1211.1AGT, REN
4saralasin4610.1REN, AGT
5eprosartan46 30 1212.1REN, AGT
6inulin4610.0AGT, REN
7olmesartan46 30 1212.0REN, AGT
8benazepril46 52 1212.0AGT, REN
9enalaprilat469.9REN, AGT
10kn 93469.9DYT10, AGT
11calmidazolium469.8DYT10, AGT
12pkc 412469.8NOS3, DYT10
13lisinopril46 52 25 1212.8REN, AGT
14chymostatin469.8REN, AGT
15bumetanide46 62 30 52 1213.7SLC12A1, SLC12A5, SLC12A3
16perindopril46 52 1211.7REN, AGT, NOS3
17candesartan46 52 30 1212.7AGT, NOS3, REN
18amlodipine46 52 25 1212.7AGT, REN, NOS3
19potassium chloride46 1210.6SLC12A1, SLC12A5, REN
20metoprolol46 52 30 25 1213.6NOS3, REN
21verapamil46 30 52 25 1213.5DYT10, CASR, REN
22apocynin46 6210.5AGT, NOS3, DYT10
23diphenyleneiodonium469.5NOS3, DYT10, AGT
24phenylephrine46 30 25 1212.5DYT10, NOS3, AGT
25lysine469.4SLC12A3, KCNJ1, CASR, WNK1
26nifedipine46 30 52 1212.4AGT, DYT10, REN
27cgmp46 3010.4AGT, NOS3, REN
28thiazide469.3CASR, REN, SLC12A3, WNK1, SLC12A1
29ang ii469.2REN, DYT10, NOS3, AGT
30pd 98,059469.2NOS3, AGT, DYT10, CASR
31furosemide46 62 30 52 25 1214.1BSND, SLC12A1, REN, SLC12A3, SLC12A5
32actinomycin d469.1AGT, CASR, DYT10, NOS3
33arginine469.1KCNJ1, REN, CASR, AGT, NOS3
34forskolin46 52 1211.0AGT, REN, SLC12A1, DYT10, CASR
35pge2469.0AGT, SLC12A1, DYT10, CASR, REN
36nitric oxide46 25 1211.0REN, NOS3, CASR, SLC12A1, AGT
37magnesium46 25 1211.0SLC12A1, CASR, WNK1, CLCNKB, KCNJ1, AGT
38inositol 1,4,5 trisphosphate469.0DYT10, AGT, CASR
39hydrochlorothiazide46 30 52 25 1212.9KCNJ1, WNK1, CASR, SLC12A3, AGT, REN
40threonine468.9SLC12A1, WNK1, DYT10, AGT, SLC12A3
41wortmannin468.8NOS3, CASR, DYT10, AGT, WNK1
42phosphatidylinositol468.7DYT10, WNK1, CASR, NOS3, AGT
43nacl468.5SLC12A3, SLC12A1, WNK1, CASR, BSND, KCNJ1
44serine468.3CASR, AGT, KCNJ1, WNK1, DYT10, NOS3
45potassium46 25 1210.1BSND, SLC12A1, CASR, WNK1, REN, SLC12A3
46sodium46 259.1SLC12A3, SLC12A1, CASR, WNK1, REN, KCNJ1
47tyrosine468.1WNK1, CASR, DYT10, AGT, KCNJ1, SLC12A5
48chlorine46 259.0SLC12A8, SLC12A3, SLC12A1, WNK1, CLCNKB, BSND
49chloride467.9KCNJ1, SLC12A5, SLC12A3, SLC12A1, BSND, CASR
50calcium46 52 25 129.8REN, WNK1, BSND, CLCNKB, AGT, SLC12A5

GO Terms for genes affiliated with Gitelman Syndrome

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17Gene Ontology
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Cellular components related to Gitelman Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058866.9SLC12A5, KCNJ1, CLCNKB, REN, CASR, NOS3

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1renin-angiotensin regulation of aldosterone productionGO:0020189.9AGT, REN
2excretionGO:0075889.8AGT, KCNJ1, CLCNKB
3angiotensin maturationGO:0020039.8REN, AGT
4blood vessel remodelingGO:0019749.6NOS3, AGT
5chloride transportGO:0068219.6SLC12A1, SLC12A3, SLC12A9
6nitric oxide mediated signal transductionGO:0072639.5AGT, NOS3
7kidney developmentGO:0018229.5REN, KCNJ1, AGT
8ion transmembrane transportGO:0342209.4CLCNKB, SLC12A1, BSND
9transportGO:0068109.2CLCNKB, SLC12A1, SLC12A3, SLC12A5
10ion transportGO:0068119.1WNK1, SLC12A1, SLC12A3, SLC12A5
11transmembrane transportGO:0550859.0SLC12A5, SLC12A3, SLC12A1, CLCNKB, BSND
12chloride transmembrane transportGO:19024768.8SLC12A1, SLC12A3, SLC12A9, SLC12A5, BSND
13potassium ion transportGO:0068138.7SLC12A5, SLC12A8, SLC12A1, KCNJ1

Products for genes affiliated with Gitelman Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gitelman Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet