GTLMNS
MCID: GTL001
MIFTS: 61

Gitelman Syndrome (GTLMNS) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Gitelman Syndrome

Aliases & Descriptions for Gitelman Syndrome:

Name: Gitelman Syndrome 54 38 12 50 24 25 56 66 13 52 42 14 69
Familial Hypokalemia-Hypomagnesemia 50 25 29
Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria 12 50
Potassium and Magnesium Depletion 50 66
Gitelman's Syndrome 50 25
Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria 25
Primary Renal Tubular Hypokalemic Hypomagnesemia with Hypocalciuria 56
Primary Renotubular Hypomagnesemia-Hypokalemia with Hypocalciuria 66
Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria 25
Bartter Syndrome Hypocalciuric Variant 66
Bartter Syndrome Gitelman Variant 66
Gtlmns 66
Gs 25

Characteristics:

Orphanet epidemiological data:

56
gitelman syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
gitelman syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 263800
Disease Ontology 12 DOID:0050450
MeSH 42 D053579
NCIt 47 C84730
SNOMED-CT 64 3188003 707756004
Orphanet 56 ORPHA358
MESH via Orphanet 43 D053579
UMLS via Orphanet 70 C0268450
ICD10 via Orphanet 34 N15.8
UMLS 69 C0268450

Summaries for Gitelman Syndrome

NIH Rare Diseases : 50 gitelman syndrome is a kidney function disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. it is usually diagnosed during late childhood or adulthood. symptoms and severity can vary widely. more common symptoms include muscle spasms or cramping, muscle weakness, and fatigue, sometimes accompanied by gastrointestinal problems such as abdominal pain, nausea and vomiting. some affected people may develop low blood pressure and/or a painful joint condition called chondrocalcinosis. gitelman syndrome can be caused by changes (mutations) in the slc12a3 or clcnkb genes and is inherited in an autosomal recessive manner. treatment may include supplementation of potassium and magnesium, and a high sodium and high potassium diet. last updated: 7/11/2016

MalaCards based summary : Gitelman Syndrome, also known as familial hypokalemia-hypomagnesemia, is related to pseudohypoparathyroidism and gnas hyperfunction, and has symptoms including seizures, abdominal pain and polyuria. An important gene associated with Gitelman Syndrome is SLC12A3 (Solute Carrier Family 12 Member 3), and among its related pathways/superpathways are Renin secretion and Diuretics Pathway, Pharmacodynamics. The drugs Progesterone and Mifepristone have been mentioned in the context of this disorder. Affiliated tissues include Kidney and Eye, and related phenotypes are behavior/neurological and cardiovascular system

Genetics Home Reference : 25 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 : 54 Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic... (263800) more...

UniProtKB/Swiss-Prot : 66 Gitelman syndrome: An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome.

Wikipedia : 71 Gitelman syndrome is an autosomal recessive kidney disorder characterized by low blood levels of... more...

Related Diseases for Gitelman Syndrome

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

(show top 50) (show all 104)
id Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism 11.1
2 gnas hyperfunction 10.9
3 pseudohypoparathyroidism ic 10.9
4 hypomagnesemia 1, intestinal 10.8
5 pseudohypoaldosteronism, type i 10.8
6 bartter disease 10.8
7 glutamine deficiency, congenital 10.8
8 griscelli syndrome 10.8
9 megaloblastic anemia-1, finnish type 10.8
10 gerstmann syndrome 10.8
11 mccune-albright syndrome, somatic, mosaic 10.8
12 gilbert syndrome 10.8
13 pseudohypoparathyroidism, type ib 10.8
14 deafness, nonsyndromic, modifier 1 10.1 CASR KCNJ1
15 adenoma 10.1
16 thyroiditis 10.1
17 maple syrup urine disease, type ii 10.1 BSND CLCNKB
18 hypophosphatemic rickets 10.1 CLCNKB SLC12A1 SLC12A3
19 impetigo 10.1 CLCNKB KCNJ1 SLC12A1
20 mixed receptive-expressive language disorder 10.1 CLCNKB KCNJ1 SLC12A1
21 dystonia 25 10.0 REN SLC12A3
22 hypokalemia 10.0
23 iris disease 10.0 AGT REN
24 prostate neuroendocrine neoplasm 10.0 AGT REN
25 cascade stomach 10.0 AGT REN
26 hypoaldosteronism, congenital, due to cmo i deficiency 10.0 AGT REN
27 glioma 10.0
28 neuroblastoma 10.0
29 hyperuricemic nephropathy, familial juvenile 2 10.0 AGT REN
30 cataract 21, multiple types 10.0 CLCNKB REN
31 petrositis 10.0 REN SLC12A3
32 eastern equine encephalitis 10.0 AGT REN
33 flat umbilicus familial 10.0 AGT REN
34 pulmonary sarcoidosis 10.0 KCNJ1 SLC12A3
35 albright's hereditary osteodystrophy 9.9
36 chondrocalcinosis 9.9
37 microphthalmia, isolated, with coloboma 7 9.9 KCNJ1 REN
38 schizotypal personality disorder 9.9 AGT REN
39 clear cell adenocarcinoma 9.9 REN SLC12A3
40 familial nasal acilia 9.9 AGT REN
41 fatty liver disease 9.9 REN SLC12A1
42 listeria meningitis 9.9 CASR REN SLC12A3
43 pituitary tumors 9.9
44 cholera 9.9
45 pituitary adenoma 9.9
46 high-grade dysplasia in patients with barrett esophagus 9.8 CASR REN
47 neuronitis 9.8
48 intracranial hypertension 9.8
49 c1q nephropathy 9.8
50 graves' disease 9.8

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



Diseases related to Gitelman Syndrome

Symptoms & Phenotypes for Gitelman Syndrome

Symptoms by clinical synopsis from OMIM:

263800

Clinical features from OMIM:

263800

Human phenotypes related to Gitelman Syndrome:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 abdominal pain 32 HP:0002027
3 polyuria 32 HP:0000103
4 polydipsia 32 HP:0001959
5 generalized muscle weakness 32 HP:0003324
6 hypokalemia 32 HP:0002900
7 paresthesia 32 HP:0003401
8 muscle cramps 32 HP:0003394
9 paralysis 32 HP:0003470
10 tetany 32 HP:0001281
11 chondrocalcinosis 32 HP:0000934
12 increased circulating renin level 32 HP:0000848
13 hypomagnesemia 32 HP:0002917
14 hypocalciuria 32 HP:0003127
15 hypokalemic alkalosis 32 HP:0001949
16 renal magnesium wasting 32 HP:0005567
17 renal potassium wasting 32 HP:0000128

UMLS symptoms related to Gitelman Syndrome:


muscle cramp, polyuria, seizures, polydipsia, generalized muscle weakness

MGI Mouse Phenotypes related to Gitelman Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 AGT BSND CASR KCNJ1 MYH10 REN
2 cardiovascular system MP:0005385 9.92 KCNJ1 MYH10 REN RGS2 SLC12A1 SLC12A3
3 homeostasis/metabolism MP:0005376 9.81 AGT BSND CASR CLCNKB KCNJ1 MYH10
4 growth/size/body region MP:0005378 9.8 BSND CASR KCNJ1 MYH10 REN SLC12A1
5 muscle MP:0005369 9.35 AGT CASR MYH10 REN RGS2
6 renal/urinary system MP:0005367 9.28 AGT BSND CASR CLCNKB KCNJ1 REN

Drugs & Therapeutics for Gitelman Syndrome

Drugs for Gitelman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
2
Mifepristone Approved, Investigational Phase 4 84371-65-3 55245
3
Indomethacin Approved, Investigational Phase 1, Phase 2 53-86-1 3715
4
Omeprazole Approved, Investigational, Vet_approved Phase 1, Phase 2 73590-58-6 4594
5
Eplerenone Approved Phase 1, Phase 2 107724-20-9 150310 443872
6
Amiloride Approved Phase 1, Phase 2 2016-88-8, 2609-46-3 16231
7 Analgesics Phase 1, Phase 2
8 diuretics Phase 1, Phase 2
9 Natriuretic Agents Phase 1, Phase 2
10 Sodium Channel Blockers Phase 1, Phase 2
11 Cyclooxygenase Inhibitors Phase 1, Phase 2
12 Tocolytic Agents Phase 1, Phase 2
13 Analgesics, Non-Narcotic Phase 1, Phase 2
14 Hormone Antagonists Phase 1, Phase 2
15 Hormones Phase 1, Phase 2
16 Diuretics, Potassium Sparing Phase 1, Phase 2
17 Peripheral Nervous System Agents Phase 1, Phase 2
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
19 Epithelial Sodium Channel Blockers Phase 1, Phase 2
20 Anti-Inflammatory Agents Phase 1, Phase 2
21 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
22 Mineralocorticoid Receptor Antagonists Phase 1, Phase 2
23 Mineralocorticoids Phase 1, Phase 2
24 Antirheumatic Agents Phase 1, Phase 2
25
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
26 Sodium Chloride Symporter Inhibitors
27 Antihypertensive Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome) Completed NCT02297048 Phase 4
2 Input of the Use of Indometacin in Gitelman Syndrome as Compared to Potassium Sparing Diuretics Completed NCT01146197 Phase 1, Phase 2
3 A Translational Approach to Gitelman Syndrome Completed NCT00822107
4 Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter Completed NCT02035046
5 Study of Myocardial Interstitial Fibrosis in Hyperaldosteronism Completed NCT02938910

Search NIH Clinical Center for Gitelman Syndrome

Cochrane evidence based reviews: gitelman syndrome

Genetic Tests for Gitelman Syndrome

Genetic tests related to Gitelman Syndrome:

id Genetic test Affiliating Genes
1 Familial Hypokalemia-Hypomagnesemia 29
2 Gitelman Syndrome 24 SLC12A3

Anatomical Context for Gitelman Syndrome

MalaCards organs/tissues related to Gitelman Syndrome:

39
Kidney, Testes, Bone, Eye, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Gitelman Syndrome:
id Tissue Anatomical CompartmentCell Relevance
1 Kidney Distal Tubule Distal Tubule Cells Potential therapeutic candidate, affected by disease
2 Eye Ganglion Cell Layer Mature Ganglion Cells Affected by disease

Publications for Gitelman Syndrome

Articles related to Gitelman Syndrome:

(show top 50) (show all 157)
id Title Authors Year
1
Gitelman Syndrome. ( 28302238 )
2017
2
Erratum to: Mutation profile and treatment of Gitelman syndrome in Chinese patients. ( 28251382 )
2017
3
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. ( 28003083 )
2017
4
Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings. ( 28125972 )
2017
5
HELLP syndrome in a pregnant patient with Gitelman syndrome. ( 28393002 )
2017
6
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report. ( 28446151 )
2017
7
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review. ( 28469853 )
2017
8
Glucose tolerance and insulin responsiveness in Gitelman syndrome patients. ( 28432081 )
2017
9
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome. ( 28018459 )
2016
10
Clinical and genetic analyses of Chinese patients with Gitelman syndrome. ( 27173320 )
2016
11
Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. ( 26940126 )
2016
12
Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine. ( 26825084 )
2016
13
Management of a severe case of Gitelman syndrome with poor response to standard treatment. ( 26887881 )
2016
14
Mutation profile and treatment of Gitelman syndrome in Chinese patients. ( 27216017 )
2016
15
Schizophrenia-like psychosis and gitelman syndrome: a case report and literature review. ( 27386324 )
2016
16
Value of Chloride Clearance Test in Differential Diagnosis of Gitelman Syndrome. ( 27469911 )
2016
17
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. ( 27303630 )
2016
18
Cryptic exon activation in SLC12A3 in Gitelman syndrome. ( 27784896 )
2016
19
Poster 105 Chronic Leg Weakness Complicated by Rhabdomyolysis as a Result of Gitelman Syndrome: AA Case Report. ( 27672873 )
2016
20
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome. ( 27783806 )
2016
21
Gitelman syndrome, familial seizures, and demyelinating neuropathy: Rare association may be due to sodium potassium cotransporter genes. ( 27424713 )
2016
22
Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome. ( 27766821 )
2016
23
Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation. ( 27803420 )
2016
24
Anesthesia in a patient with gitelman syndrome. ( 27625504 )
2016
25
An Unusual Case of Gout in a Young Woman with Gitelman Syndrome. ( 27803353 )
2016
26
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort. ( 27454426 )
2016
27
FUNCTIONOMICS OF NCC MUTATIONS IN GITELMAN SYNDROME USING A NOVEL MAMMALIAN CELL-BASED ACTIVITY ASSAY. ( 27582097 )
2016
28
Transient hyperphosphatemia: a benign laboratory disorder in a boy with Gitelman syndrome. ( 27737396 )
2016
29
Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study. ( 27339375 )
2016
30
Chondrocalcinosis and Gitelman syndrome. ( 27026693 )
2016
31
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. ( 25880437 )
2015
32
Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature. ( 25990047 )
2015
33
Coexistence of Graves' Disease in a 14-year-old Young Girl with Gitelman Syndrome. ( 25892104 )
2015
34
Graves' disease and Gitelman syndrome. ( 26041598 )
2015
35
A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene. ( 26306968 )
2015
36
Novel brain MRI abnormalities in Gitelman syndrome. ( 26443301 )
2015
37
An adolescent with tingling and numbness of hand: gitelman syndrome. ( 25709976 )
2015
38
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review. ( 26260218 )
2015
39
Pseudo Gitelman Syndrome Associated With Pregnancy. ( 25923028 )
2015
40
NORMOMAGNESEMIC GITELMAN SYNDROME PATIENTS EXHIBIT A STRONGER REACTION TO THIAZIDE THAN HYPOMAGNESEMIC PATIENTS. ( 26121437 )
2015
41
A case of acquired Gitelman syndrome presenting as hypokalemic paralysis. ( 26199478 )
2015
42
Corrigendum to "Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene". ( 25815233 )
2015
43
Pemphigus vegetans associated with Gitelman syndrome. ( 26515865 )
2015
44
Gitelman syndrome in an infant. ( 26628802 )
2015
45
Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene. ( 25140267 )
2014
46
A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. ( 25852896 )
2014
47
A pedigree analysis of two homozygous mutant Gitelman Syndrome cases. ( 25273610 )
2014
48
Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome. ( 25060058 )
2014
49
Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene. ( 24711981 )
2014
50
Gitelman syndrome with hiponatremia, a rare presentation. ( 24658204 )
2014

Variations for Gitelman Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Gitelman Syndrome:

66 (show top 50) (show all 117)
id Symbol AA change Variation ID SNP ID
1 SLC12A3 p.Arg209Trp VAR_007113 rs28936388
2 SLC12A3 p.Pro349Leu VAR_007114 rs121909383
3 SLC12A3 p.Cys421Arg VAR_007115 rs28936387
4 SLC12A3 p.Asp486Asn VAR_007116 rs753523115
5 SLC12A3 p.Gly496Cys VAR_007117 rs777612082
6 SLC12A3 p.Ala588Val VAR_007119 rs121909382
7 SLC12A3 p.Gly630Val VAR_007120 rs28936389
8 SLC12A3 p.Arg655His VAR_007121 rs121909380
9 SLC12A3 p.Arg655Leu VAR_007122 rs121909380
10 SLC12A3 p.Gly741Arg VAR_007124 rs138977195
11 SLC12A3 p.Leu850Pro VAR_007125 rs121909379
12 SLC12A3 p.Arg955Gln VAR_007126 rs202114767
13 SLC12A3 p.Thr60Met VAR_039475 rs371443644
14 SLC12A3 p.Asp62Asn VAR_039476
15 SLC12A3 p.Glu68Lys VAR_039477 rs763210286
16 SLC12A3 p.His69Asn VAR_039478 rs780502516
17 SLC12A3 p.His90Tyr VAR_039479
18 SLC12A3 p.Arg145His VAR_039480 rs374324018
19 SLC12A3 p.Val153Met VAR_039481 rs779074538
20 SLC12A3 p.Ile154Phe VAR_039482 rs748547209
21 SLC12A3 p.Arg158Gln VAR_039483
22 SLC12A3 p.Thr163Met VAR_039484 rs267607050
23 SLC12A3 p.Trp172Arg VAR_039485 rs757792232
24 SLC12A3 p.Ser178Leu VAR_039486 rs772589653
25 SLC12A3 p.Thr180Lys VAR_039487 rs146158333
26 SLC12A3 p.Gly186Asp VAR_039488
27 SLC12A3 p.Arg209Gln VAR_039489 rs28936388
28 SLC12A3 p.Leu215Pro VAR_039490 rs780594361
29 SLC12A3 p.Ala226Thr VAR_039491 rs774753202
30 SLC12A3 p.Gly230Asp VAR_039492 rs375990084
31 SLC12A3 p.Arg261His VAR_039493
32 SLC12A3 p.Ser283Tyr VAR_039495
33 SLC12A3 p.Lys284Arg VAR_039496
34 SLC12A3 p.Thr304Pro VAR_039497 rs753840283
35 SLC12A3 p.Ala313Val VAR_039498 rs140551719
36 SLC12A3 p.Gly316Val VAR_039499 rs748920885
37 SLC12A3 p.Arg321Trp VAR_039500 rs150046661
38 SLC12A3 p.Arg334Trp VAR_039501 rs770702194
39 SLC12A3 p.Gly342Ala VAR_039502
40 SLC12A3 p.Gly374Val VAR_039503 rs773669504
41 SLC12A3 p.Arg399Cys VAR_039504 rs775931992
42 SLC12A3 p.Gly439Ser VAR_039505 rs759377924
43 SLC12A3 p.Gly463Glu VAR_039506
44 SLC12A3 p.Ala464Thr VAR_039507 rs201945662
45 SLC12A3 p.Lys478Glu VAR_039508
46 SLC12A3 p.Leu542Pro VAR_039509 rs574357286
47 SLC12A3 p.Ser555Leu VAR_039510 rs148038173
48 SLC12A3 p.Pro560His VAR_039511
49 SLC12A3 p.Ala569Glu VAR_039512
50 SLC12A3 p.Ala569Val VAR_039513 rs79351185

ClinVar genetic disease variations for Gitelman Syndrome:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC12A3 NM_000339.2(SLC12A3): c.2576T> C (p.Leu859Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121909379 GRCh37 Chromosome 16, 56928470: 56928470
2 SLC12A3 NM_000339.2(SLC12A3): c.1261T> C (p.Cys421Arg) single nucleotide variant Pathogenic rs28936387 GRCh37 Chromosome 16, 56913065: 56913065
3 SLC12A3 NM_000339.2(SLC12A3): c.625C> T (p.Arg209Trp) single nucleotide variant Pathogenic rs28936388 GRCh37 Chromosome 16, 56904031: 56904031
4 SLC12A3 SLC12A3, IVS15AS, G-T, -1 single nucleotide variant Pathogenic
5 SLC12A3 NM_000339.2(SLC12A3): c.1964G> A (p.Arg655His) single nucleotide variant Pathogenic rs121909380 GRCh37 Chromosome 16, 56920314: 56920314
6 SLC12A3 NM_000339.2(SLC12A3): c.1964G> T (p.Arg655Leu) single nucleotide variant Pathogenic rs121909380 GRCh37 Chromosome 16, 56920314: 56920314
7 SLC12A3 SLC12A3, IVS23DS, G-T, +1 single nucleotide variant Pathogenic
8 SLC12A3 NM_000339.2(SLC12A3): c.1763C> T (p.Ala588Val) single nucleotide variant Pathogenic rs121909382 GRCh37 Chromosome 16, 56918054: 56918054
9 SLC12A3 NM_000339.2(SLC12A3): c.1046C> T (p.Pro349Leu) single nucleotide variant Pathogenic rs121909383 GRCh37 Chromosome 16, 56906649: 56906649
10 SLC12A3 SLC12A3, 3-BP DEL deletion Pathogenic
11 SLC12A3 NM_000339.2(SLC12A3): c.1889G> T (p.Gly630Val) single nucleotide variant Pathogenic rs121909384 GRCh37 Chromosome 16, 56919240: 56919240
12 SLC12A3 NM_000339.2(SLC12A3): c.1868T> C (p.Leu623Pro) single nucleotide variant Pathogenic rs121909385 GRCh37 Chromosome 16, 56919219: 56919219
13 SLC12A3 SLC12A3, 2-BP DEL, 2881AG deletion Pathogenic
14 SLC12A3 NM_000339.2(SLC12A3): c.179C> T (p.Thr60Met) single nucleotide variant Pathogenic rs371443644 GRCh38 Chromosome 16, 56865414: 56865414
15 SLC12A3 NM_000339.2(SLC12A3): c.815T> C (p.Leu272Pro) single nucleotide variant Likely pathogenic rs568513106 GRCh37 Chromosome 16, 56904611: 56904611
16 SLC12A3 NM_000339.2(SLC12A3): c.1338delC (p.Met447Terfs) deletion Pathogenic rs886041108 GRCh37 Chromosome 16, 56913456: 56913456
17 SLC12A3 NM_000339.2(SLC12A3): c.247C> T (p.Arg83Trp) single nucleotide variant Likely pathogenic rs201255508 GRCh37 Chromosome 16, 56899394: 56899394
18 SLC12A3 NM_000339.2(SLC12A3): c.1925G> A (p.Arg642His) single nucleotide variant Pathogenic rs147901432 GRCh38 Chromosome 16, 56885364: 56885364
19 SLC12A3 NM_000339.2(SLC12A3): c.2890C> T (p.Arg964Trp) single nucleotide variant Likely pathogenic rs559626481 GRCh38 Chromosome 16, 56904401: 56904401
20 SLC12A3 NM_000339.2(SLC12A3): c.1924C> G (p.Arg642Gly) single nucleotide variant Pathogenic rs200697179 GRCh37 Chromosome 16, 56919275: 56919275
21 SLC12A3 NM_000339.2(SLC12A3): c.1276A> T (p.Asn426Tyr) single nucleotide variant Pathogenic rs200817545 GRCh38 Chromosome 16, 56879168: 56879168
22 SLC12A3 NM_000339.2(SLC12A3): c.2891G> A (p.Arg964Gln) single nucleotide variant Pathogenic rs202114767 GRCh38 Chromosome 16, 56904402: 56904402

Copy number variations for Gitelman Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 102593 16 55456619 55507263 ,deletion SLC12A3 Gitelman Syndrome
2 102594 16 55456619 55507263 Genomic rearrangemen t SLC12A3 Gitelman Syndrome

Expression for Gitelman Syndrome

Search GEO for disease gene expression data for Gitelman Syndrome.

Pathways for Gitelman Syndrome

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

id Super pathways Score Top Affiliating Genes
1 10.77 AGT REN
2 10.48 BSND CLCNKB KCNJ1 SLC12A1 SLC12A3

GO Terms for Gitelman Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.33 CASR MYH10 RGS2
2 plasma membrane GO:0005886 9.28 BSND CASR CLCNKB KCNJ1 MYH10 REN
3 apical plasma membrane GO:0016324 9.13 CASR SLC12A1 SLC12A3

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.78 CLCNKB KCNJ1 SLC12A1 SLC12A3
2 ion transmembrane transport GO:0034220 9.67 BSND CLCNKB SLC12A1
3 regulation of blood pressure GO:0008217 9.52 AGT REN
4 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.51 AGT CASR
5 excretion GO:0007588 9.46 CLCNKB KCNJ1
6 regulation of calcium ion transport GO:0051924 9.43 AGT CASR
7 vasodilation GO:0042311 9.4 AGT CASR
8 regulation of anion transmembrane transport GO:1903959 9.37 BSND CLCNKB
9 angiotensin maturation GO:0002003 9.32 AGT REN
10 renin-angiotensin regulation of aldosterone production GO:0002018 9.26 AGT REN
11 chloride transmembrane transport GO:1902476 9.26 BSND CLCNKB SLC12A1 SLC12A3
12 regulation of blood volume by renin-angiotensin GO:0002016 9.16 AGT REN
13 chloride transport GO:0006821 8.92 BSND CLCNKB SLC12A1 SLC12A3

Molecular functions related to Gitelman Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.16 BSND CLCNKB
2 voltage-gated chloride channel activity GO:0005247 8.96 BSND CLCNKB
3 cation:chloride symporter activity GO:0015377 8.62 SLC12A1 SLC12A3

Sources for Gitelman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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