GS
MCID: GTL001
MIFTS: 70

Gitelman Syndrome (GS) malady

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

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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 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 nephrogenic diabetes insipidus and hypokalemia, and has symptoms including 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:46 263800

Aliases & Classifications for Gitelman Syndrome

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 22GTR, 20GeneTests, 34MeSH, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Gitelman Syndrome, Aliases & Descriptions:

Name: Gitelman Syndrome 30 8 9 42 21 46 10 44 48 62
Familial Hypokalemia-Hypomagnesemia 42 22 21 62
Gitelman's Syndrome 42 20 21
Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria 8 42
Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria 21 62
 
Primary Renal Tubular Hypokalemic Hypomagnesemia with Hypocalciuria 48
Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria 21
Potassium and Magnesium Depletion 42
Gs 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 48 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0050450
OMIM46 263800
MeSH34 D053579
UMLS via Orphanet63 C0268450
MESH via Orphanet35 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/GeneDecks gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1nephrogenic diabetes insipidus30.6SLC12A1
2hypokalemia30.3KCNJ1, CLCNKB, REN, BSND, CASR, SLC12A1
3proteinuria30.0NOS3, AGT, REN
4hypertension29.9NOS3, REN, WNK1, SLC12A3, AGT
5impotence29.9NOS3, DYT10
6atherosclerosis29.4CASR, DYT10, AGT, NOS3
7adenoma10.5
8thyroiditis10.5
9pseudohypoparathyroidism10.5
10fibromuscular dysplasia10.5REN
11low renin hypertension10.5REN
12autonomic neuropathy10.4REN
13mccune albright syndrome10.4
14diabetic macular edema10.4DYT10
15neuroblastoma10.4
16albright's hereditary osteodystrophy10.3
17renal tubular dysgenesis10.3REN, AGT
18thyroid adenoma10.3
19pituitary adenoma10.3
20pituitary tumors10.3
21nephrolithiasis10.3CASR, CLCNKB
22bartter syndrome, type 210.2KCNJ1, SLC12A1, REN
23renal fibrosis10.2REN, AGT
24cholera10.2
25neuronitis10.2
26intracranial hypertension10.2
27bartter disease10.2SLC12A1, BSND, CLCNKB, KCNJ1
28polyhydramnios10.2SLC12A1, BSND, KCNJ1, CLCNKB
29hyperaldosteronism10.2CLCNKB, KCNJ1, REN, SLC12A3
30multiple endocrine neoplasia10.2
31nephrocalcinosis10.1SLC12A1, CLCNKB, KCNJ1, CASR
32sensorineural hearing loss10.1BSND, SLC12A1, KCNJ1, CASR
33pseudohypoaldosteronism type ii10.1REN, WNK1, SLC12A3
34primary hyperoxaluria10.1CLCNKB, REN, BSND, CASR
35portal hypertension10.1REN, NOS3
36leukemia10.1
37acrodysostosis10.1
38fibrous dysplasia10.1
39hypothyroidism10.1
40influenza10.1
41prostatitis10.1
42retinitis10.1
43dysautonomia10.1
44gnas hyperfunction10.1
45focal segmental glomerulosclerosis10.1
46glomerulonephritis10.1
47familial mediterranean fever10.1
48diabetic ketoacidosis10.1
49fanconi syndrome10.1
50diabetes insipidus10.1

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 20)
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 polydipsia HP:0001959
12 hypokalemia HP:0002900
13 hypomagnesemia HP:0002917
14 hypocalciuria HP:0003127
15 generalized muscle weakness HP:0003324
16 muscle cramps HP:0003394
17 paresthesia HP:0003401
18 paralysis HP:0003470
19 juvenile onset HP:0003621
20 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:

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
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:

36
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 111)
idTitleAuthorsYear
1
Gitelman syndrome with hiponatremia, a rare presentation. (24658204)
2014
2
Clinical severity of Gitelman syndrome determined by serum magnesium. (24776766)
2014
3
Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene. (25140267)
2014
4
Indomethacin, Amiloride, or Eplerenone for Treating Hypokalemia in Gitelman Syndrome. (25012174)
2014
5
Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome. (25060058)
2014
6
Localised normocalcaemic tetany secondary to dehydration in an individual with Gitelman syndrome. (23632612)
2013
7
Gitelman syndrome. (23585506)
2013
8
SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations. (23756661)
2013
9
Renal phosphate handling in Gitelman syndrome--the results of a case-control study. (22990302)
2013
10
A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia. (23338926)
2013
11
Gitelman syndrome as a cause of psychomotor retardation in a toddler. (23282232)
2013
12
Adaptation in Gitelman syndrome: "we just want to pump you up". (22344514)
2012
13
Perioperative considerations in patients with Gitelman syndrome: a case series. (22284312)
2012
14
Understanding Bartter syndrome and Gitelman syndrome. (22282380)
2012
15
Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. (21705784)
2011
16
Focal segmental glomerulosclerosis in association with Gitelman syndrome. (20625829)
2011
17
Spectrum of mutations in Gitelman syndrome. (21415153)
2011
18
A case of Gitelman syndrome associated with idiopathic intracranial hypertension. (21757836)
2011
19
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
20
MER91B-assisted cryptic exon activation in Gitelman syndrome. (20234284)
2010
21
Gitelman syndrome, calcium pyrophosphate dihydrate deposition disease and crowned dens syndrome. A new association? (19952090)
2010
22
Fetal demise despite normalisation of serum potassium in Gitelman syndrome. Case report and literature review. (20618253)
2010
23
Gitelman syndrome due to p.A204T mutation in CLCNKB gene. (20931281)
2010
24
Gitelman syndrome during pregnancy: a therapeutic challenge. (19241082)
2009
25
Acquired gitelman syndrome. (21468178)
2009
26
Gitelman syndrome. (19349556)
2009
27
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. (19207868)
2009
28
Gitelman syndrome. (18667063)
2008
29
Characterization of a splicing abnormality in Gitelman syndrome. (18501801)
2008
30
Hypocalciuria in patients with Gitelman syndrome: role of blood volume. (17472852)
2007
31
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
32
C1q nephropathy in association with Gitelman syndrome: a case report. (16955279)
2006
33
Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found. (17159356)
2006
34
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. (16429844)
2006
35
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. (17059986)
2006
36
Gitelman syndrome. (16580616)
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:

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:

6 (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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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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Pathways related to Gitelman Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Gitelman Syndrome

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Compounds related to Gitelman Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1bendroflumethiazide44 1111.3REN, SLC12A3
2remikiren44 1111.1AGT, REN
3aliskiren44 1111.1AGT, REN
4saralasin4410.1AGT, REN
5eprosartan44 28 1112.1REN, AGT
6inulin4410.0AGT, REN
7olmesartan44 28 1112.0AGT, REN
8benazepril44 50 1112.0REN, AGT
9enalaprilat4410.0REN, AGT
10kn 93449.9AGT, DYT10
11pkc 412449.8DYT10, NOS3
12lisinopril44 50 24 1112.8AGT, REN
13calmidazolium449.8DYT10, AGT
14chymostatin449.8AGT, REN
15bumetanide44 61 28 50 1113.7SLC12A5, SLC12A3, SLC12A1
16perindopril44 50 1111.7REN, NOS3, AGT
17candesartan44 50 28 1112.7AGT, NOS3, REN
18amlodipine44 50 24 1112.7REN, NOS3, AGT
19potassium chloride44 1110.6SLC12A5, SLC12A1, REN
20metoprolol44 50 28 24 1113.6NOS3, REN
21verapamil44 28 50 24 1113.5DYT10, CASR, REN
22apocynin44 6110.5DYT10, NOS3, AGT
23diphenyleneiodonium449.5DYT10, NOS3, AGT
24phenylephrine44 28 24 1112.5AGT, NOS3, DYT10
25lysine449.4KCNJ1, WNK1, CASR, SLC12A3
26nifedipine44 28 50 1112.4AGT, DYT10, REN
27cgmp44 2810.4REN, NOS3, AGT
28thiazide449.3REN, WNK1, CASR, SLC12A1, SLC12A3
29ang ii449.2REN, DYT10, NOS3, AGT
30pd 98,059449.2CASR, DYT10, NOS3, AGT
31furosemide44 61 28 50 24 1114.1BSND, REN, SLC12A1, SLC12A3, SLC12A5
32actinomycin d449.1AGT, NOS3, DYT10, CASR
33arginine449.1AGT, NOS3, CASR, REN, KCNJ1
34forskolin44 50 1111.0REN, CASR, DYT10, SLC12A1, AGT
35pge2449.0AGT, SLC12A1, DYT10, CASR, REN
36nitric oxide44 24 1111.0REN, CASR, NOS3, SLC12A1, AGT
37magnesium44 24 1111.0KCNJ1, CLCNKB, WNK1, CASR, SLC12A1, AGT
38inositol 1,4,5 trisphosphate449.0CASR, DYT10, AGT
39hydrochlorothiazide44 28 50 24 1112.9AGT, SLC12A3, CASR, WNK1, REN, KCNJ1
40threonine448.9WNK1, DYT10, SLC12A1, SLC12A3, AGT
41wortmannin448.8WNK1, CASR, DYT10, NOS3, AGT
42phosphatidylinositol448.7WNK1, CASR, DYT10, NOS3, AGT
43nacl448.5BSND, KCNJ1, SLC12A3, SLC12A1, CASR, WNK1
44serine448.3KCNJ1, WNK1, CASR, DYT10, NOS3, SLC12A3
45potassium44 24 1110.1BSND, KCNJ1, CLCNKB, REN, WNK1, CASR
46sodium44 249.1BSND, KCNJ1, CLCNKB, REN, WNK1, CASR
47tyrosine448.1KCNJ1, WNK1, CASR, DYT10, SLC12A5, AGT
48chlorine44 249.0BSND, CLCNKB, WNK1, SLC12A1, SLC12A3, SLC12A8
49chloride447.9SLC12A5, BSND, KCNJ1, CLCNKB, REN, WNK1
50calcium44 50 24 119.8BSND, CLCNKB, REN, WNK1, CASR, DYT10

GO Terms for genes affiliated with Gitelman Syndrome

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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:0075889.8KCNJ1, CLCNKB, AGT
3angiotensin maturationGO:0020039.8AGT, REN
4blood vessel remodelingGO:0019749.6AGT, NOS3
5chloride transportGO:0068219.6SLC12A9, SLC12A3, SLC12A1
6nitric oxide mediated signal transductionGO:0072639.5AGT, NOS3
7kidney developmentGO:0018229.5KCNJ1, REN, AGT
8ion transmembrane transportGO:0342209.4BSND, CLCNKB, SLC12A1
9transportGO:0068109.2SLC12A5, SLC12A3, SLC12A1, CLCNKB
10ion transportGO:0068119.1WNK1, SLC12A1, SLC12A3, SLC12A5
11transmembrane transportGO:0550859.0BSND, CLCNKB, SLC12A1, SLC12A3, SLC12A5
12chloride transmembrane transportGO:19024768.8SLC12A5, SLC12A9, SLC12A3, SLC12A1, BSND
13potassium ion transportGO:0068138.7KCNJ1, SLC12A1, SLC12A8, SLC12A5

Products for genes affiliated with Gitelman Syndrome

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet