MCID: GTL001
MIFTS: 64

Gitelman Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Gitelman Syndrome

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NIH Rare Diseases:41 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 vary widely, and do not appear before six years of age. it is usually diagnosed during adolescence or adulthood. common symptoms include painful muscle spasms (tetany), sometimes accompanied by abdominal pain, vomiting and fever; 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 can be caused by mutations in the slc12a3 or clcnkb genes and is inherited in an autosomal recessive manner. treatment may include supplementation of magnesium and a high-sodium and high potassium diet. last updated: 10/8/2014

MalaCards based summary: Gitelman Syndrome, also known as familial hypokalemia-hypomagnesemia, is related to hypokalemia and proteinuria, and has symptoms including abdominal pain, autosomal recessive inheritance and polyuria. 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.

OMIM:45 Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic... (263800) more...

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

Aliases & Classifications for Gitelman Syndrome

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 22GTR, 20GeneTests, 33MeSH, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Gitelman Syndrome, Aliases & Descriptions:

Name: Gitelman Syndrome 45 30 9 10 41 21 11 43 47 60
Familial Hypokalemia-Hypomagnesemia 41 21 22
Gitelman's Syndrome 41 20 21
Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria 9 41
Primary Renal Tubular Hypokalemic Hypomagnesemia with Hypocalciuria 41 47
 
Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria 21
Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria 21
Potassium and Magnesium Depletion 41
Gs 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 47 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

47
gitelman syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM45 263800
Disease Ontology9 DOID:0050450
MeSH33 D053579
Orphanet47 358
UMLS via Orphanet61 C0268450
MESH via Orphanet34 D053579
ICD10 via Orphanet26 N15.8

Related Diseases for Gitelman Syndrome

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Diseases related to Gitelman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1hypokalemia30.3SLC12A3, SLC12A1, BSND, KCNJ1, CLCNKB, REN
2proteinuria30.0AGT, NOS3, REN
3impotence29.9NOS3, DYT10
4atherosclerosis29.4CASR, DYT10, NOS3, AGT
5adenoma10.5
6thyroiditis10.5
7pseudohypoparathyroidism10.5
8diabetes insipidus, nephrogenic10.5SLC12A1
9fibromuscular dysplasia10.5REN
10autonomic neuropathy10.4REN
11neuroblastoma10.4
12diabetic macular edema10.4DYT10
13albright's hereditary osteodystrophy10.3
14thyroid adenoma10.3
15renal tubular dysgenesis10.3AGT, REN
16cholera10.3
17pituitary adenoma10.3
18pituitary tumors10.3
19nephrolithiasis10.3CASR, CLCNKB
20antenatal bartter syndrome10.2KCNJ1, REN, SLC12A1
21renal fibrosis10.2AGT, REN
22neuronitis10.2
23chondrocalcinosis10.2
24intracranial hypertension10.2
25bartter disease10.2BSND, KCNJ1, CLCNKB, SLC12A1
26multiple endocrine neoplasia10.2
27polyhydramnios10.2BSND, KCNJ1, CLCNKB, SLC12A1
28hyperaldosteronism10.2SLC12A3, REN, CLCNKB, KCNJ1
29nephrocalcinosis10.1KCNJ1, CLCNKB, CASR, SLC12A1
30sensorineural hearing loss10.1SLC12A1, CASR, KCNJ1, BSND
31pseudohypoaldosteronism, type iie10.1SLC12A3, WNK1, REN
32primary hyperoxaluria10.1CASR, REN, CLCNKB, BSND
33portal hypertension10.1NOS3, REN
34glutamine deficiency, congenital10.1
35leukemia10.1
36fibrous dysplasia10.1
37acrodysostosis10.1
38hypothyroidism10.1
39influenza10.1
40prostatitis10.1
41retinitis10.1
42dysautonomia10.1
43gnas hyperfunction10.1
44hypomagnesemia 1, intestinal10.1
45pseudohypoaldosteronism, type i10.1
46focal segmental glomerulosclerosis10.1
47glomerulonephritis10.1
48diabetic ketoacidosis10.1
49diabetes insipidus10.1
50fanconi syndrome10.1

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



Diseases related to gitelman syndrome

Symptoms for Gitelman Syndrome

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Symptoms by clinical synopsis from OMIM:

263800

Clinical features from OMIM:

263800

HPO human phenotypes related to Gitelman Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 abdominal pain rare (5%) HP:0002027
2 autosomal recessive inheritance HP:0000007
3 polyuria HP:0000103
4 renal potassium wasting HP:0000128
5 increased circulating renin level HP:0000848
6 chondrocalcinosis HP:0000934
7 seizures HP:0001250
8 tetany HP:0001281
9 hypokalemic alkalosis HP:0001949
10 polydipsia HP:0001959
11 hypokalemia HP:0002900
12 hypomagnesemia HP:0002917
13 hypocalciuria HP:0003127
14 generalized muscle weakness HP:0003324
15 muscle cramps HP:0003394
16 paresthesia HP:0003401
17 paralysis HP:0003470
18 juvenile onset HP:0003621
19 renal magnesium wasting HP:0005567

Drugs & Therapeutics for Gitelman Syndrome

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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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Genetic tests related to Gitelman Syndrome:

id Genetic test Affiliating Genes
1 Gitelman Syndrome20 SLC12A3
2 Familial Hypokalemia-Hypomagnesemia22

Anatomical Context for Gitelman Syndrome

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MalaCards organs/tissues related to Gitelman Syndrome:

31
Kidney, Skin, Eye, Bone, Testes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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
2 EyeGanglion Cell LayerMature Ganglion Cells Affected by disease

Animal Models for Gitelman Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Gitelman Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6AGT, NOS3, CASR, WNK1, REN
2MP:00053857.9BSND, KCNJ1, REN, WNK1, NOS3, SLC12A1
3MP:00053977.8BSND, KCNJ1, REN, WNK1, CASR, NOS3
4MP:00053677.7AGT, BSND, KCNJ1, REN, WNK1, CASR
5MP:00053767.5BSND, KCNJ1, REN, WNK1, CASR, NOS3
6MP:00053867.5BSND, KCNJ1, REN, CASR, NOS3, SLC12A1
7MP:00053787.2BSND, KCNJ1, REN, WNK1, CASR, NOS3
8MP:00107687.0BSND, KCNJ1, REN, WNK1, CASR, NOS3

Publications for Gitelman Syndrome

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Articles related to Gitelman Syndrome:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
An adolescent with tingling and numbness of hand: gitelman syndrome. (25709976)
2015
2
Coexistence of Graves' Disease in a 14-year-old Young Girl with Gitelman Syndrome. (25892104)
2015
3
Gitelman syndrome with hiponatremia, a rare presentation. (24658204)
2014
4
Clinical severity of Gitelman syndrome determined by serum magnesium. (24776766)
2014
5
Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene. (25140267)
2014
6
Indomethacin, Amiloride, or Eplerenone for Treating Hypokalemia in Gitelman Syndrome. (25012174)
2014
7
A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. (25852896)
2014
8
Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome. (25060058)
2014
9
Localised normocalcaemic tetany secondary to dehydration in an individual with Gitelman syndrome. (23632612)
2013
10
Gitelman syndrome. (23585506)
2013
11
SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations. (23756661)
2013
12
Renal phosphate handling in Gitelman syndrome--the results of a case-control study. (22990302)
2013
13
A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia. (23338926)
2013
14
Gitelman syndrome as a cause of psychomotor retardation in a toddler. (23282232)
2013
15
Adaptation in Gitelman syndrome: "we just want to pump you up". (22344514)
2012
16
Perioperative considerations in patients with Gitelman syndrome: a case series. (22284312)
2012
17
Understanding Bartter syndrome and Gitelman syndrome. (22282380)
2012
18
Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. (21705784)
2011
19
Focal segmental glomerulosclerosis in association with Gitelman syndrome. (20625829)
2011
20
Spectrum of mutations in Gitelman syndrome. (21415153)
2011
21
A case of Gitelman syndrome associated with idiopathic intracranial hypertension. (21757836)
2011
22
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
23
MER91B-assisted cryptic exon activation in Gitelman syndrome. (20234284)
2010
24
Gitelman syndrome, calcium pyrophosphate dihydrate deposition disease and crowned dens syndrome. A new association? (19952090)
2010
25
Gitelman syndrome during pregnancy: a therapeutic challenge. (19241082)
2009
26
Acquired gitelman syndrome. (21468178)
2009
27
Gitelman syndrome. (19349556)
2009
28
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. (19207868)
2009
29
Gitelman syndrome. (18667063)
2008
30
Characterization of a splicing abnormality in Gitelman syndrome. (18501801)
2008
31
Hypocalciuria in patients with Gitelman syndrome: role of blood volume. (17472852)
2007
32
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
33
C1q nephropathy in association with Gitelman syndrome: a case report. (16955279)
2006
34
Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found. (17159356)
2006
35
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. (16429844)
2006
36
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. (17059986)
2006
37
Sclerochoroidal calcification associated with Gitelman syndrome and calcium pyrophosphate dihydrate deposition. (16311360)
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
Functional Gitelman syndrome? (14981619)
2004
41
Normal plasma total magnesium in Gitelman syndrome. (15063827)
2004
42
Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. (12185467)
2002
43
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes. (11532083)
2001
44
Sclerochoroidal calcification associated with Gitelman syndrome. (10612520)
1999
45
A boy presenting with familial short stature--diagnosis Gitelman syndrome. (10614549)
1999
46
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. (10492336)
1999
47
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. (9734597)
1998
48
Gitelman syndrome comes of age. (9681697)
1998
49
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. (8865231)
1996
50
Gitelman syndrome and hypocalciuria. (1285778)
1992

Variations for Gitelman Syndrome

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Gitelman Syndrome:

6 (show all 15)
id Gene Variation 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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Search GEO for disease gene expression data for Gitelman Syndrome.

Pathways for genes affiliated with Gitelman Syndrome

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Pathways related to Gitelman Syndrome according to GeneCards Suite gene sharing:

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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Compounds related to Gitelman Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1bendroflumethiazide43 1211.3REN, SLC12A3
2remikiren43 1211.1AGT, REN
3aliskiren43 1211.1AGT, REN
4saralasin4310.1REN, AGT
5eprosartan43 28 1212.1REN, AGT
6inulin4310.0AGT, REN
7olmesartan43 28 1212.0REN, AGT
8benazepril43 49 1212.0AGT, REN
9enalaprilat439.9REN, AGT
10kn 93439.9DYT10, AGT
11calmidazolium439.8DYT10, AGT
12pkc 412439.8NOS3, DYT10
13lisinopril43 49 24 1212.8REN, AGT
14chymostatin439.8REN, AGT
15bumetanide43 59 28 49 1213.7SLC12A1, SLC12A5, SLC12A3
16perindopril43 49 1211.7REN, AGT, NOS3
17candesartan43 49 28 1212.7AGT, NOS3, REN
18amlodipine43 49 24 1212.7AGT, REN, NOS3
19potassium chloride43 1210.6SLC12A1, SLC12A5, REN
20metoprolol43 49 28 24 1213.6NOS3, REN
21verapamil43 28 49 24 1213.5DYT10, CASR, REN
22apocynin43 5910.5AGT, NOS3, DYT10
23diphenyleneiodonium439.5NOS3, DYT10, AGT
24phenylephrine43 28 24 1212.5DYT10, NOS3, AGT
25lysine439.4SLC12A3, KCNJ1, CASR, WNK1
26nifedipine43 28 49 1212.4AGT, DYT10, REN
27cgmp43 2810.4AGT, NOS3, REN
28thiazide439.3CASR, REN, SLC12A3, WNK1, SLC12A1
29ang ii439.2REN, DYT10, NOS3, AGT
30pd 98,059439.2NOS3, AGT, DYT10, CASR
31furosemide43 59 28 49 24 1214.1BSND, SLC12A1, REN, SLC12A3, SLC12A5
32actinomycin d439.1AGT, CASR, DYT10, NOS3
33arginine439.1KCNJ1, REN, CASR, AGT, NOS3
34forskolin43 49 1211.0AGT, REN, SLC12A1, DYT10, CASR
35pge2439.0AGT, SLC12A1, DYT10, CASR, REN
36nitric oxide43 24 1211.0REN, NOS3, CASR, SLC12A1, AGT
37magnesium43 24 1211.0SLC12A1, CASR, WNK1, CLCNKB, KCNJ1, AGT
38inositol 1,4,5 trisphosphate439.0DYT10, AGT, CASR
39hydrochlorothiazide43 28 49 24 1212.9KCNJ1, WNK1, CASR, SLC12A3, AGT, REN
40threonine438.9SLC12A1, WNK1, DYT10, AGT, SLC12A3
41wortmannin438.8NOS3, CASR, DYT10, AGT, WNK1
42phosphatidylinositol438.7DYT10, WNK1, CASR, NOS3, AGT
43nacl438.5SLC12A3, SLC12A1, WNK1, CASR, BSND, KCNJ1
44serine438.3CASR, AGT, KCNJ1, WNK1, DYT10, NOS3
45potassium43 24 1210.1BSND, SLC12A1, CASR, WNK1, REN, SLC12A3
46sodium43 249.1SLC12A3, SLC12A1, CASR, WNK1, REN, KCNJ1
47tyrosine438.1WNK1, CASR, DYT10, AGT, KCNJ1, SLC12A5
48chlorine43 249.0SLC12A8, SLC12A3, SLC12A1, WNK1, CLCNKB, BSND
49chloride437.9KCNJ1, SLC12A5, SLC12A3, SLC12A1, BSND, CASR
50calcium43 49 24 129.8REN, WNK1, BSND, CLCNKB, AGT, SLC12A5

GO Terms for genes affiliated with Gitelman Syndrome

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Cellular components related to Gitelman Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:00058866.9SLC12A5, KCNJ1, CLCNKB, REN, CASR, NOS3

Biological processes related to Gitelman Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1renin-angiotensin regulation of aldosterone productionGO:00020189.9AGT, REN
2excretionGO:00075889.8AGT, KCNJ1, CLCNKB
3angiotensin maturationGO:00020039.8REN, AGT
4blood vessel remodelingGO:00019749.6NOS3, AGT
5chloride transportGO:00068219.6SLC12A1, SLC12A3, SLC12A9
6nitric oxide mediated signal transductionGO:00072639.5AGT, NOS3
7kidney developmentGO:00018229.5REN, KCNJ1, AGT
8ion transmembrane transportGO:00342209.4CLCNKB, SLC12A1, BSND
9transportGO:00068109.2CLCNKB, SLC12A1, SLC12A3, SLC12A5
10ion transportGO:00068119.1WNK1, SLC12A1, SLC12A3, SLC12A5
11transmembrane transportGO:00550859.0SLC12A5, SLC12A3, SLC12A1, CLCNKB, BSND
12chloride transmembrane transportGO:019024768.8SLC12A1, SLC12A3, SLC12A9, SLC12A5, BSND
13potassium ion transportGO:00068138.7SLC12A5, SLC12A8, SLC12A1, KCNJ1

Products for genes affiliated with Gitelman Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
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  • Kits and Assays

Sources for Gitelman Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet