GS
MCID: GTL001
MIFTS: 64

Gitelman Syndrome (GS) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Gitelman Syndrome

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: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:65 Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic... more...

Description from OMIM:47 263800

Aliases & Classifications for Gitelman Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 49 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

49
gitelman syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

gitelman syndrome 8 9 43 20 21 47 10 45 49 62
hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria 8 43
hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria 21
primary renal tubular hypokalemic hypomagnesemia with hypocalciuria 49
tubular hypomagnesemia-hypokalemia with hypocalcuria 21
familial hypokalemia-hypomagnesemia 21
potassium and magnesium depletion 43
gitelman's syndrome 21
gs 21


External Ids:

Disease Ontology8 DOID:0050450
MeSH35 D053579
OMIM47 263800
MESH via Orphanet36 D053579
ICD10 via Orphanet26 N15.8
SNOMED-CT via Orphanet59 3188003
UMLS via Orphanet63 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 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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Gitelman Syndrome

Search NIH Clinical Center 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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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Gitelman Syndrome:

33
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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37MGI
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MGI Mouse Phenotypes related to Gitelman Syndrome:

37
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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52PubMed
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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Gitelman Syndrome:

64 (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, 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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50PathCards, 55Reactome, 51PharmGKB, 30KEGG, 38NCBI 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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45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Gitelman Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1bendroflumethiazide45 1111.3REN, SLC12A3
2remikiren45 1111.1AGT, REN
3aliskiren45 1111.1AGT, REN
4saralasin4510.1REN, AGT
5eprosartan45 29 1112.1REN, AGT
6inulin4510.0AGT, REN
7olmesartan45 29 1112.0REN, AGT
8benazepril45 51 1112.0AGT, REN
9enalaprilat459.9REN, AGT
10kn 93459.9DYT10, AGT
11calmidazolium459.8DYT10, AGT
12pkc 412459.8NOS3, DYT10
13lisinopril45 51 24 1112.8REN, AGT
14chymostatin459.8REN, AGT
15bumetanide45 61 29 51 1113.7SLC12A1, SLC12A5, SLC12A3
16perindopril45 51 1111.7REN, AGT, NOS3
17candesartan45 51 29 1112.7AGT, NOS3, REN
18amlodipine45 51 24 1112.7AGT, REN, NOS3
19potassium chloride45 1110.6SLC12A1, SLC12A5, REN
20metoprolol45 51 29 24 1113.6NOS3, REN
21verapamil45 29 51 24 1113.5DYT10, CASR, REN
22apocynin45 6110.5AGT, NOS3, DYT10
23diphenyleneiodonium459.5NOS3, DYT10, AGT
24phenylephrine45 29 24 1112.5DYT10, NOS3, AGT
25lysine459.4SLC12A3, KCNJ1, CASR, WNK1
26nifedipine45 29 51 1112.4AGT, DYT10, REN
27cgmp45 2910.4AGT, NOS3, REN
28thiazide459.3CASR, REN, SLC12A3, WNK1, SLC12A1
29ang ii459.2REN, DYT10, NOS3, AGT
30pd 98,059459.2NOS3, AGT, DYT10, CASR
31furosemide45 61 29 51 24 1114.1BSND, SLC12A1, REN, SLC12A3, SLC12A5
32actinomycin d459.1AGT, CASR, DYT10, NOS3
33arginine459.1KCNJ1, REN, CASR, AGT, NOS3
34forskolin45 51 1111.0AGT, REN, SLC12A1, DYT10, CASR
35pge2459.0AGT, SLC12A1, DYT10, CASR, REN
36nitric oxide45 24 1111.0REN, NOS3, CASR, SLC12A1, AGT
37magnesium45 24 1111.0SLC12A1, CASR, WNK1, CLCNKB, KCNJ1, AGT
38inositol 1,4,5 trisphosphate459.0DYT10, AGT, CASR
39hydrochlorothiazide45 29 51 24 1112.9KCNJ1, WNK1, CASR, SLC12A3, AGT, REN
40threonine458.9SLC12A1, WNK1, DYT10, AGT, SLC12A3
41wortmannin458.8NOS3, CASR, DYT10, AGT, WNK1
42phosphatidylinositol458.7DYT10, WNK1, CASR, NOS3, AGT
43nacl458.5SLC12A3, SLC12A1, WNK1, CASR, BSND, KCNJ1
44serine458.3CASR, AGT, KCNJ1, WNK1, DYT10, NOS3
45potassium45 24 1110.1BSND, SLC12A1, CASR, WNK1, REN, SLC12A3
46sodium45 249.1SLC12A3, SLC12A1, CASR, WNK1, REN, KCNJ1
47tyrosine458.1WNK1, CASR, DYT10, AGT, KCNJ1, SLC12A5
48chlorine45 249.0SLC12A8, SLC12A3, SLC12A1, WNK1, CLCNKB, BSND
49chloride457.9KCNJ1, SLC12A5, SLC12A3, SLC12A1, BSND, CASR
50calcium45 51 24 119.8REN, WNK1, BSND, CLCNKB, AGT, SLC12A5

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: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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet