MCID: GTL001
MIFTS: 62

Gitelman Syndrome

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Gitelman Syndrome

MalaCards integrated aliases for Gitelman Syndrome:

Name: Gitelman Syndrome 53 37 12 72 49 24 55 71 36 13 51 41 14 69
Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria 53 12 49
Familial Hypokalemia-Hypomagnesemia 49 24 28
Potassium and Magnesium Depletion 53 49 71
Gitelman's Syndrome 49 24
Gtlmns 53 71
Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria 24
Primary Renal Tubular Hypokalemic Hypomagnesemia with Hypocalciuria 55
Primary Renotubular Hypomagnesemia-Hypokalemia with Hypocalciuria 71
Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria 24
Bartter Syndrome Hypocalciuric Variant 71
Bartter Syndrome Gitelman Variant 71
Gs 24

Characteristics:

Orphanet epidemiological data:

55
gitelman syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood (later than in antenatal bartter syndrome )
prevalence of 19 in 1,000,000 in sweden
prevalence of 1 in 40,000 among caucasians
heterozygous carriers have decreased blood pressure compared to the general population


HPO:

31
gitelman syndrome:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare renal diseases


External Ids:

OMIM 53 263800
Disease Ontology 12 DOID:0050450
MeSH 41 D053579
NCIt 46 C84730
SNOMED-CT 64 3188003 707756004
Orphanet 55 ORPHA358
MESH via Orphanet 42 D053579
UMLS via Orphanet 70 C0268450
ICD10 via Orphanet 33 N15.8
KEGG 36 H00240
UMLS 69 C0268450

Summaries for Gitelman Syndrome

NIH Rare Diseases : 49 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 hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria, is related to bartter syndrome, type 3 and chondrocalcinosis, 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 Mifepristone and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and testes, and related phenotypes are behavior/neurological and cardiovascular system

OMIM : 53 Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. (263800)

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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 : 72 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 114)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 3 29.8 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
2 chondrocalcinosis 29.6 CASR REN SLC12A3
3 bartter disease 29.6 BSND CASR CLCNKB KCNJ1 REN SLC12A1
4 renal hypertension 29.5 REN SLC12A3
5 diabetes insipidus 29.0 REN SLC12A1
6 hypokalemia 27.9 BSND CASR CLCNKB KCNJ1 REN SLC12A1
7 griscelli syndrome 11.8
8 pseudohypoparathyroidism 11.3
9 mccune-albright syndrome 11.2
10 pseudohypoparathyroidism, type ic 11.0
11 hypomagnesemia 2, renal 10.9
12 pseudohypoaldosteronism, type i, autosomal recessive 10.9
13 primary hypomagnesemia 10.9
14 megaloblastic anemia 1 10.9
15 glutamine deficiency, congenital 10.9
16 gerstmann syndrome 10.9
17 gilbert syndrome 10.9
18 pseudohypoparathyroidism, type ib 10.9
19 adenoma 10.2
20 thyroiditis 10.2
21 bartter syndrome, type 2, antenatal 10.2 CASR KCNJ1
22 hypercalciuria, absorptive, 2 10.2 CASR KCNJ1
23 infantile bartter syndrome with sensorineural deafness 10.2 BSND CLCNKB
24 diabetes insipidus, nephrogenic, autosomal 10.1 CASR SLC12A1
25 neuroblastoma 10.1
26 glioma 10.1
27 dent disease 1 10.1 CLCNKB KCNJ1 SLC12A1
28 polyhydramnios 10.1 CLCNKB KCNJ1 SLC12A1
29 nephrocalcinosis 10.1 CLCNKB KCNJ1 SLC12A1
30 albright's hereditary osteodystrophy 10.0
31 arthrogryposis, distal, type 3 10.0 REN SLC12A3
32 cholera 10.0
33 pituitary adenoma 10.0
34 pituitary tumors 10.0
35 apparent mineralocorticoid excess 10.0 CLCNKB REN
36 anuria 9.9 AGT REN
37 hyperaldosteronism, familial, type i 9.9 AGT REN
38 malignant hypertension 9.9 AGT REN
39 fibromuscular dysplasia 9.9 AGT REN
40 pseudohypoparathyroidism, type ia 9.9
41 neuronitis 9.9
42 oligohydramnios 9.9 AGT REN
43 renal tubular dysgenesis 9.9 AGT REN
44 familial hypertension 9.9 AGT REN
45 focal segmental glomerulosclerosis 1 9.9
46 focal segmental glomerulosclerosis 9.9
47 graves' disease 9.9
48 intracranial hypertension 9.9
49 c1q nephropathy 9.9
50 multiple endocrine neoplasia 9.8

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



Diseases related to Gitelman Syndrome

Symptoms & Phenotypes for Gitelman Syndrome

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
paresthesias
paralysis, episodic, after strenuous exercise

MetabolicFeatures:
polydipsia
hypokalemic alkalosis

LaboratoryAbnormalities:
hypokalemia
hypomagnesemia
hypocalciuria

Abdomen:
abdominal pain (in some patients)

GenitourinaryKidneys:
polyuria
renal magnesium wasting
renal potassium wasting

MuscleSoftTissue:
generalized muscle weakness
muscle cramps
tetany

Skeletal:
chondrocalcinosis

EndocrineFeatures:
increased plasma renin


Clinical features from OMIM:

263800

Human phenotypes related to Gitelman Syndrome:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 abdominal pain 31 occasional (7.5%) HP:0002027
3 polyuria 31 HP:0000103
4 polydipsia 31 HP:0001959
5 generalized muscle weakness 31 HP:0003324
6 hypokalemia 31 HP:0002900
7 paresthesia 31 HP:0003401
8 muscle cramps 31 HP:0003394
9 paralysis 31 HP:0003470
10 tetany 31 HP:0001281
11 chondrocalcinosis 31 HP:0000934
12 increased circulating renin level 31 HP:0000848
13 hypomagnesemia 31 HP:0002917
14 hypocalciuria 31 HP:0003127
15 renal magnesium wasting 31 HP:0005567
16 hypokalemic alkalosis 31 HP:0001949
17 renal potassium wasting 31 HP:0000128

UMLS symptoms related to Gitelman Syndrome:


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

MGI Mouse Phenotypes related to Gitelman Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 AGT BSND CASR KCNJ1 PRKG1 REN
2 cardiovascular system MP:0005385 9.92 AGT BSND KCNJ1 PRKG1 REN RGS2
3 homeostasis/metabolism MP:0005376 9.81 CASR CLCNKB KCNJ1 PRKG1 REN SLC12A1
4 hematopoietic system MP:0005397 9.8 BSND CASR KCNJ1 PRKG1 REN RGS2
5 muscle MP:0005369 9.35 AGT CASR PRKG1 REN RGS2
6 renal/urinary system MP:0005367 9.32 AGT BSND CASR CLCNKB KCNJ1 PRKG1

Drugs & Therapeutics for Gitelman Syndrome

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 TREATMENT
3 A Translational Approach to Gitelman Syndrome Completed NCT00822107 Hydrochlorothiazide
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:

# Genetic test Affiliating Genes
1 Familial Hypokalemia-Hypomagnesemia 28 SLC12A3

Anatomical Context for Gitelman Syndrome

MalaCards organs/tissues related to Gitelman Syndrome:

38
Kidney, Testes, Brain, Bone, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Gitelman Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Distal Tubule Distal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Gitelman Syndrome

Articles related to Gitelman Syndrome:

(show top 50) (show all 169)
# Title Authors Year
1
Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report. ( 29403282 )
2018
2
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree. ( 29378538 )
2018
3
Coexistence of Gitelman Syndrome and Hypertrophic Cardiomyopathy in a Pregnant Woman. ( 29375229 )
2018
4
HELLP syndrome in a pregnant patient with Gitelman syndrome. ( 28393002 )
2017
5
Gitelman Syndrome ( 29083583 )
2017
6
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. ( 28003083 )
2017
7
Gitelman Syndrome. ( 28302238 )
2017
8
Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities. ( 28744758 )
2017
9
Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis. ( 29044344 )
2017
10
Hypokalaemic metabolic alkalosis resembing Gitelman syndrome with focal segmental glomerulosclerosis. ( 28994252 )
2017
11
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report. ( 28446151 )
2017
12
Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings. ( 28125972 )
2017
13
Acquired Gitelman syndrome in a primary SjAPgren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review. ( 28685938 )
2017
14
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review. ( 28469853 )
2017
15
Glucose tolerance and insulin responsiveness in Gitelman syndrome patients. ( 28432081 )
2017
16
Management of uncommon disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome. ( 29051782 )
2017
17
Gitelman syndrome: a rare life-threatening case of hypokalemic paralysis mimicking Guillain-BarrAc syndrome during pregnancy and review of the literature. ( 29026553 )
2017
18
Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome. ( 29319266 )
2017
19
Inherited, not acquired, Gitelman syndrome in a patient with SjAPgren's syndrome: importance of genetic testing to distinguish the two forms. ( 28819721 )
2017
20
Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome. ( 28700713 )
2017
21
Chondrocalcinosis and Gitelman syndrome. ( 27026693 )
2016
22
Clinical and genetic analyses of Chinese patients with Gitelman syndrome. ( 27173320 )
2016
23
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort. ( 27454426 )
2016
24
Gitelman syndrome, familial seizures, and demyelinating neuropathy: Rare association may be due to sodium potassium cotransporter genes. ( 27424713 )
2016
25
Value of Chloride Clearance Test in Differential Diagnosis of Gitelman Syndrome. ( 27469911 )
2016
26
Transient hyperphosphatemia: a benign laboratory disorder in a boy with Gitelman syndrome. ( 27737396 )
2016
27
Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome. ( 27766821 )
2016
28
Anesthesia in a patient with gitelman syndrome. ( 27625504 )
2016
29
An Unusual Case of Gout in a Young Woman with Gitelman Syndrome. ( 27803353 )
2016
30
Schizophrenia-like psychosis and gitelman syndrome: a case report and literature review. ( 27386324 )
2016
31
Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine. ( 26825084 )
2016
32
FUNCTIONOMICS OF NCC MUTATIONS IN GITELMAN SYNDROME USING A NOVEL MAMMALIAN CELL-BASED ACTIVITY ASSAY. ( 27582097 )
2016
33
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. ( 27303630 )
2016
34
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome. ( 28018459 )
2016
35
Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. ( 26940126 )
2016
36
Management of a severe case of Gitelman syndrome with poor response to standard treatment. ( 26887881 )
2016
37
Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study. ( 27339375 )
2016
38
Mutation profile and treatment of Gitelman syndrome in Chinese patients. ( 27216017 )
2016
39
Cryptic exon activation in SLC12A3 in Gitelman syndrome. ( 27784896 )
2016
40
Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation. ( 27803420 )
2016
41
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome. ( 27783806 )
2016
42
Poster 105 Chronic Leg Weakness Complicated by Rhabdomyolysis as a Result of Gitelman Syndrome: AA Case Report. ( 27672873 )
2016
43
Pseudo Gitelman Syndrome Associated With Pregnancy. ( 25923028 )
2015
44
Gitelman syndrome in an infant. ( 26628802 )
2015
45
A case of acquired Gitelman syndrome presenting as hypokalemic paralysis. ( 26199478 )
2015
46
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. ( 25880437 )
2015
47
Pemphigus vegetans associated with Gitelman syndrome. ( 26515865 )
2015
48
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review. ( 26260218 )
2015
49
NORMOMAGNESEMIC GITELMAN SYNDROME PATIENTS EXHIBIT A STRONGER REACTION TO THIAZIDE THAN HYPOMAGNESEMIC PATIENTS. ( 26121437 )
2015
50
Novel brain MRI abnormalities in Gitelman syndrome. ( 26443301 )
2015

Variations for Gitelman Syndrome

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

71 (show top 50) (show all 117)
# 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 rs121909384
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 rs759426055
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 rs914588619
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 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC12A3 SLC12A3, 3-BP DEL deletion Pathogenic
2 SLC12A3 NM_000339.2(SLC12A3): c.2576T> C (p.Leu859Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121909379 GRCh37 Chromosome 16, 56928470: 56928470
3 SLC12A3 NM_000339.2(SLC12A3): c.1261T> C (p.Cys421Arg) single nucleotide variant Pathogenic rs28936387 GRCh37 Chromosome 16, 56913065: 56913065
4 SLC12A3 NM_000339.2(SLC12A3): c.625C> T (p.Arg209Trp) single nucleotide variant Pathogenic rs28936388 GRCh37 Chromosome 16, 56904031: 56904031
5 SLC12A3 SLC12A3, IVS15AS, G-T, -1 single nucleotide variant Pathogenic
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 NM_000339.2(SLC12A3): c.1889G> T (p.Gly630Val) single nucleotide variant Pathogenic rs121909384 GRCh37 Chromosome 16, 56919240: 56919240
11 SLC12A3 NM_000339.2(SLC12A3): c.1868T> C (p.Leu623Pro) single nucleotide variant Pathogenic rs121909385 GRCh37 Chromosome 16, 56919219: 56919219
12 SLC12A3 SLC12A3, 2-BP DEL, 2881AG deletion Pathogenic
13 SLC12A3 NM_000339.2(SLC12A3): c.179C> T (p.Thr60Met) single nucleotide variant Pathogenic rs371443644 GRCh38 Chromosome 16, 56865414: 56865414
14 SLC12A3 NM_000339.2(SLC12A3): c.815T> C (p.Leu272Pro) single nucleotide variant Likely pathogenic rs568513106 GRCh37 Chromosome 16, 56904611: 56904611
15 SLC12A3 NM_000339.2(SLC12A3): c.1919A> G (p.Asn640Ser) single nucleotide variant Likely pathogenic rs886039754 GRCh38 Chromosome 16, 56885358: 56885358
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
23 SLC12A3 NM_000339.2(SLC12A3): c.1180+1G> T single nucleotide variant Pathogenic rs749098014 GRCh38 Chromosome 16, 56878162: 56878162
24 SLC12A3 NM_000339.2(SLC12A3): c.2581C> T (p.Arg861Cys) single nucleotide variant Pathogenic rs373899077 GRCh37 Chromosome 16, 56928475: 56928475
25 SLC12A3 NM_000339.2(SLC12A3): c.283delC (p.Gln95Argfs) deletion Pathogenic GRCh37 Chromosome 16, 56900982: 56900982
26 SLC12A3 NM_000339.2(SLC12A3): c.2522A> G (p.Asp841Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 56893028: 56893028

Copy number variations for Gitelman Syndrome from CNVD:

7
# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.28 BSND CASR CLCNKB KCNJ1 PRKG1 REN
2 apical plasma membrane GO:0016324 9.13 CASR SLC12A1 SLC12A3

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

(show all 12)
# 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 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.51 AGT CASR
4 excretion GO:0007588 9.46 CLCNKB KCNJ1
5 regulation of calcium ion transport GO:0051924 9.43 AGT CASR
6 vasodilation GO:0042311 9.4 AGT CASR
7 regulation of anion transmembrane transport GO:1903959 9.37 BSND CLCNKB
8 angiotensin maturation GO:0002003 9.32 AGT REN
9 relaxation of vascular smooth muscle GO:0060087 9.26 PRKG1 RGS2
10 renin-angiotensin regulation of aldosterone production GO:0002018 9.16 AGT REN
11 regulation of blood volume by renin-angiotensin GO:0002016 8.96 AGT REN
12 chloride transmembrane transport GO:1902476 8.92 BSND CLCNKB SLC12A1 SLC12A3

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated chloride channel activity GO:0005247 8.96 BSND CLCNKB
2 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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