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GTLMNS
MCID: GTL001
MIFTS: 63

Gitelman Syndrome (GTLMNS)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Gitelman Syndrome

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MalaCards integrated aliases for Gitelman Syndrome:

Name: Gitelman Syndrome 57 38 12 76 53 25 59 75 37 13 55 44 15 40 73
Familial Hypokalemia-Hypomagnesemia 53 25 29 6
Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria 57 12 53
Potassium and Magnesium Depletion 57 53 75
Gitelman's Syndrome 53 25
Gtlmns 57 75
Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria 25
Primary Renal Tubular Hypokalemic Hypomagnesemia with Hypocalciuria 59
Primary Renotubular Hypomagnesemia-Hypokalemia with Hypocalciuria 75
Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria 25
Bartter Syndrome Hypocalciuric Variant 75
Bartter Syndrome Gitelman Variant 75
Gs 25

Characteristics:

Orphanet epidemiological data:

59
gitelman syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare renal diseases


Sources

Summaries for Gitelman Syndrome

About this section
OMIM : 57 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)

MalaCards based summary : Gitelman Syndrome, also known as familial hypokalemia-hypomagnesemia, is related to bartter disease and bartter syndrome, type 3, and has symptoms including seizures, polydipsia and generalized muscle weakness. 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, kidney and heart, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A renal tubular transport disease that is has material basis in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).

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.

NIH Rare Diseases : 53 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. More common symptoms include fatigue, salt craving, thirst, frequent urination, muscle cramping, muscle weakness, dizziness, tingling or numbness, low blood pressure, and heart palpitations. 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Gitelman syndrome is an autosomal recessive kidney disorder characterized by low blood levels of... more...

Sources

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 150)
# Related Disease Score Top Affiliating Genes
1 bartter disease 31.0 BSND CASR CLCNKB KCNJ1 REN SLC12A1
2 bartter syndrome, type 3 30.9 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
3 chondrocalcinosis 30.5 CASR SLC12A3
4 renal hypertension 29.8 REN SLC12A3
5 diabetes insipidus, nephrogenic, autosomal 29.7 CASR SLC12A1
6 diabetes insipidus 29.7 REN SLC12A1
7 hypokalemia 29.6 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
8 griscelli syndrome 11.9
9 mccune-albright syndrome 11.5
10 pseudohypoparathyroidism 11.4
11 pseudohypoparathyroidism, type ic 11.2
12 hypomagnesemia 2, renal 11.1
13 pseudohypoaldosteronism, type i, autosomal recessive 11.1
14 primary hypomagnesemia 11.1
15 megaloblastic anemia 1 11.0
16 glutamine deficiency, congenital 11.0
17 gerstmann syndrome 11.0
18 gilbert syndrome 11.0
19 pseudohypoparathyroidism, type ii 11.0
20 pseudohypoparathyroidism, type ib 11.0
21 albright's hereditary osteodystrophy 10.3
22 neuroblastoma 10.2
23 glioma 10.2
24 fibrous dysplasia 10.1
25 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 KCNJ1 SLC12A3
26 sarcoma 10.1
27 cholera 10.1
28 adenoma 10.1
29 myeloid sarcoma 10.1
30 pituitary tumors 10.1
31 bartter syndrome, type 2, antenatal 10.1 CASR KCNJ1
32 hypercalciuria, absorptive, 2 10.1 CASR KCNJ1
33 infantile bartter syndrome with sensorineural deafness 10.1 BSND CLCNKB
34 pseudohypoparathyroidism, type ia 10.1
35 polyhydramnios 10.0 CLCNKB KCNJ1 SLC12A1
36 arthrogryposis, distal, type 3 10.0 REN SLC12A3
37 focal segmental glomerulosclerosis 1 10.0
38 focal segmental glomerulosclerosis 10.0
39 graves' disease 10.0
40 intracranial hypertension 10.0
41 c1q nephropathy 10.0
42 major affective disorder 1 10.0
43 major affective disorder 8 10.0
44 major affective disorder 7 10.0
45 major affective disorder 9 10.0
46 pituitary adenoma 10.0
47 multiple endocrine neoplasia 10.0
48 potter's syndrome 10.0 AGT REN
49 renal artery disease 10.0 AGT REN
50 anuria 10.0 AGT REN

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



Diseases related to Gitelman Syndrome
Sources

Symptoms & Phenotypes for Gitelman Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
paresthesias
paralysis, episodic, after strenuous exercise

Laboratory Abnormalities:
hypokalemia
hypocalciuria
hypomagnesemia

Skeletal:
chondrocalcinosis

Abdomen:
abdominal pain (in some patients)

Metabolic Features:
polydipsia
hypokalemic alkalosis

Muscle Soft Tissue:
generalized muscle weakness
muscle cramps
tetany

Genitourinary Kidneys:
polyuria
renal magnesium wasting
renal potassium wasting

Endocrine Features:
increased plasma renin


Clinical features from OMIM:

263800

Human phenotypes related to Gitelman Syndrome:

32 (show all 36)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 ataxia 32 HP:0001251
3 muscle weakness 32 HP:0001324
4 failure to thrive 32 very rare (1%) HP:0001508
5 constipation 32 HP:0002019
6 hypotension 32 HP:0002615
7 delayed puberty 32 HP:0000823
8 polydipsia 32 HP:0001959
9 vomiting 32 HP:0002013
10 hypokalemia 32 HP:0002900
11 fatigue 32 HP:0012378
12 arthralgia 32 HP:0002829
13 generalized muscle weakness 32 HP:0003324
14 abdominal pain 32 occasional (7.5%) HP:0002027
15 prolonged qt interval 32 HP:0001657
16 paresthesia 32 HP:0003401
17 vertigo 32 HP:0002321
18 muscle cramps 32 HP:0003394
19 paralysis 32 very rare (1%) HP:0003470
20 tetany 32 HP:0001281
21 blurred vision 32 very rare (1%) HP:0000622
22 chondrocalcinosis 32 HP:0000934
23 increased circulating renin level 32 HP:0000848
24 nocturia 32 HP:0000017
25 ventricular tachycardia 32 very rare (1%) HP:0004756
26 episodic fever 32 HP:0001954
27 enuresis 32 HP:0000805
28 hypocalciuria 32 HP:0003127
29 hypomagnesemia 32 HP:0002917
30 palpitations 32 HP:0001962
31 rhabdomyolysis 32 very rare (1%) HP:0003201
32 salt craving 32 HP:0030083
33 polyuria 32 HP:0000103
34 renal magnesium wasting 32 HP:0005567
35 hypokalemic alkalosis 32 HP:0001949
36 renal potassium wasting 32 HP:0000128

UMLS symptoms related to Gitelman Syndrome:


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

MGI Mouse Phenotypes related to Gitelman Syndrome:

46
# 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 AGT BSND CASR CLCNKB KCNJ1 PRKG1
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
Sources

Drugs & Therapeutics for Gitelman Syndrome

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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
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
2
Mifepristone Approved, Investigational Phase 4 84371-65-3 55245
3
Amiloride Approved Phase 1, Phase 2 2016-88-8, 2609-46-3 16231
4
Omeprazole Approved, Investigational, Vet_approved Phase 1, Phase 2 73590-58-6 4594
5
Indomethacin Approved, Investigational Phase 1, Phase 2 53-86-1 3715
6
Eplerenone Approved Phase 1, Phase 2 107724-20-9 443872 150310
7 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
8 Analgesics, Non-Narcotic Phase 1, Phase 2
9 Hormone Antagonists Phase 1, Phase 2
10 Epithelial Sodium Channel Blockers Phase 1, Phase 2
11 Analgesics Phase 1, Phase 2
12 Sodium Channel Blockers Phase 1, Phase 2
13 Mineralocorticoids Phase 1, Phase 2
14 Hormones Phase 1, Phase 2
15 Mineralocorticoid Receptor Antagonists Phase 1, Phase 2
16 Peripheral Nervous System Agents Phase 1, Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
18 Cyclooxygenase Inhibitors Phase 1, Phase 2
19 diuretics Phase 1, Phase 2,Not Applicable
20 Natriuretic Agents Phase 1, Phase 2,Not Applicable
21 Tocolytic Agents Phase 1, Phase 2
22 Antirheumatic Agents Phase 1, Phase 2
23 Diuretics, Potassium Sparing Phase 1, Phase 2
24 Anti-Inflammatory Agents Phase 1, Phase 2
25
Hydrochlorothiazide Approved, Vet_approved Not Applicable 58-93-5 3639
26 Antihypertensive Agents Not Applicable
27 Sodium Chloride Symporter Inhibitors Not Applicable

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 Not Applicable Hydrochlorothiazide
4 Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter Completed NCT02035046 Not Applicable
5 Study of Myocardial Interstitial Fibrosis in Hyperaldosteronism Completed NCT02938910

Search NIH Clinical Center for Gitelman Syndrome

Cochrane evidence based reviews: gitelman syndrome

Sources

Genetic Tests for Gitelman Syndrome

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Genetic tests related to Gitelman Syndrome:

# Genetic test Affiliating Genes
1 Familial Hypokalemia-Hypomagnesemia 29 SLC12A3
Sources

Anatomical Context for Gitelman Syndrome

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MalaCards organs/tissues related to Gitelman Syndrome:

41
Kidney, Heart, Bone, Lung, Pituitary, Prostate, Myeloid
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 Affected by disease, potential therapeutic candidate
Sources

Publications for Gitelman Syndrome

About this section

Articles related to Gitelman Syndrome:

(show top 50) (show all 186)
# Title Authors Year
1
Bartter Syndrome and Gitelman Syndrome. ( 30454738 )
2019
2
Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia. ( 29953267 )
2018
3
Novel nonsense mutation in the SLC12A3 gene in a Spanish case of Gitelman syndrome. ( 29934036 )
2018
4
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree. ( 29378538 )
2018
5
Coexistence of Gitelman Syndrome and Hypertrophic Cardiomyopathy in a Pregnant Woman. ( 29375229 )
2018
6
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. ( 29849040 )
2018
7
Gitelman syndrome and primary hyperparathyroidism: a rare association. ( 29871958 )
2018
8
Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report. ( 29403282 )
2018
9
A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION. ( 30084681 )
2018
10
Transplantation of a Gitelman Syndrome Kidney Ameliorates Hypertension: A Case Report. ( 30201548 )
2018
11
Persistent QT Prolongation in a Child with Gitelman Syndrome and SCN5A H558R Polymorphism. ( 30305584 )
2018
12
Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients. ( 30319542 )
2018
13
Acquired Gitelman Syndrome Secondary to Bendamustine Use. ( 30384518 )
2018
14
Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review. ( 30409157 )
2018
15
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome. ( 30413979 )
2018
16
Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities. ( 28744758 )
2017
17
Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis. ( 29044344 )
2017
18
Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings. ( 28125972 )
2017
19
Management of uncommon disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome. ( 29051782 )
2017
20
Glucose tolerance and insulin responsiveness in Gitelman syndrome patients. ( 28432081 )
2017
21
Gitelman syndrome: a rare life-threatening case of hypokalemic paralysis mimicking Guillain-BarrAc syndrome during pregnancy and review of the literature. ( 29026553 )
2017
22
HELLP syndrome in a pregnant patient with Gitelman syndrome. ( 28393002 )
2017
23
Inherited, not acquired, Gitelman syndrome in a patient with SjAPgren's syndrome: importance of genetic testing to distinguish the two forms. ( 28819721 )
2017
24
Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome. ( 28700713 )
2017
25
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report. ( 28446151 )
2017
26
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. ( 28003083 )
2017
27
Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome. ( 29319266 )
2017
28
Gitelman Syndrome ( 29083583 )
2017
29
Hypokalaemic metabolic alkalosis resembing Gitelman syndrome with focal segmental glomerulosclerosis. ( 28994252 )
2017
30
Acquired Gitelman syndrome in a primary SjAPgren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review. ( 28685938 )
2017
31
Gitelman Syndrome. ( 28302238 )
2017
32
Erratum to: Mutation profile and treatment of Gitelman syndrome in Chinese patients. ( 28251382 )
2017
33
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review. ( 28469853 )
2017
34
Schizophrenia-like psychosis and gitelman syndrome: a case report and literature review. ( 27386324 )
2016
35
Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation. ( 27803420 )
2016
36
Chondrocalcinosis and Gitelman syndrome. ( 27026693 )
2016
37
FUNCTIONOMICS OF NCC MUTATIONS IN GITELMAN SYNDROME USING A NOVEL MAMMALIAN CELL-BASED ACTIVITY ASSAY. ( 27582097 )
2016
38
Value of Chloride Clearance Test in Differential Diagnosis of Gitelman Syndrome. ( 27469911 )
2016
39
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. ( 27303630 )
2016
40
Clinical and genetic analyses of Chinese patients with Gitelman syndrome. ( 27173320 )
2016
41
Management of a severe case of Gitelman syndrome with poor response to standard treatment. ( 26887881 )
2016
42
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort. ( 27454426 )
2016
43
Gitelman syndrome, familial seizures, and demyelinating neuropathy: Rare association may be due to sodium potassium cotransporter genes. ( 27424713 )
2016
44
Anesthesia in a patient with gitelman syndrome. ( 27625504 )
2016
45
Transient hyperphosphatemia: a benign laboratory disorder in a boy with Gitelman syndrome. ( 27737396 )
2016
46
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome. ( 27783806 )
2016
47
Mutation profile and treatment of Gitelman syndrome in Chinese patients. ( 27216017 )
2016
48
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome. ( 28018459 )
2016
49
Cryptic exon activation in SLC12A3 in Gitelman syndrome. ( 27784896 )
2016
50
Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. ( 26940126 )
2016
Sources

Variations for Gitelman Syndrome

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

75 (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 rs127497372
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 rs758035631
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 top 50) (show all 270)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC12A3 NM_000339.2(SLC12A3): c.2576T> C (p.Leu859Pro) single nucleotide variant Likely pathogenic rs121909379 GRCh37 Chromosome 16, 56928470: 56928470
2 SLC12A3 NM_000339.2(SLC12A3): c.2576T> C (p.Leu859Pro) single nucleotide variant Likely pathogenic rs121909379 GRCh38 Chromosome 16, 56894558: 56894558
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.1261T> C (p.Cys421Arg) single nucleotide variant Pathogenic rs28936387 GRCh38 Chromosome 16, 56879153: 56879153
5 SLC12A3 NM_000339.2(SLC12A3): c.625C> T (p.Arg209Trp) single nucleotide variant Pathogenic rs28936388 GRCh37 Chromosome 16, 56904031: 56904031
6 SLC12A3 NM_000339.2(SLC12A3): c.625C> T (p.Arg209Trp) single nucleotide variant Pathogenic rs28936388 GRCh38 Chromosome 16, 56870119: 56870119
7 SLC12A3 SLC12A3, IVS15AS, G-T, -1 single nucleotide variant Pathogenic
8 SLC12A3 NM_000339.2(SLC12A3): c.1964G> A (p.Arg655His) single nucleotide variant Conflicting interpretations of pathogenicity rs121909380 GRCh37 Chromosome 16, 56920314: 56920314
9 SLC12A3 NM_000339.2(SLC12A3): c.1964G> A (p.Arg655His) single nucleotide variant Conflicting interpretations of pathogenicity rs121909380 GRCh38 Chromosome 16, 56886402: 56886402
10 SLC12A3 NM_000339.2(SLC12A3): c.1964G> T (p.Arg655Leu) single nucleotide variant Pathogenic rs121909380 GRCh37 Chromosome 16, 56920314: 56920314
11 SLC12A3 NM_000339.2(SLC12A3): c.1964G> T (p.Arg655Leu) single nucleotide variant Pathogenic rs121909380 GRCh38 Chromosome 16, 56886402: 56886402
12 SLC12A3 SLC12A3, IVS23DS, G-T, +1 single nucleotide variant Pathogenic
13 SLC12A3 NM_000339.2(SLC12A3): c.1763C> T (p.Ala588Val) single nucleotide variant Pathogenic rs121909382 GRCh37 Chromosome 16, 56918054: 56918054
14 SLC12A3 NM_000339.2(SLC12A3): c.1763C> T (p.Ala588Val) single nucleotide variant Pathogenic rs121909382 GRCh38 Chromosome 16, 56884142: 56884142
15 SLC12A3 NM_000339.2(SLC12A3): c.1046C> T (p.Pro349Leu) single nucleotide variant Pathogenic rs121909383 GRCh37 Chromosome 16, 56906649: 56906649
16 SLC12A3 NM_000339.2(SLC12A3): c.1046C> T (p.Pro349Leu) single nucleotide variant Pathogenic rs121909383 GRCh38 Chromosome 16, 56872737: 56872737
17 SLC12A3 SLC12A3, 3-BP DEL deletion Pathogenic
18 SLC12A3 NM_000339.2(SLC12A3): c.1889G> T (p.Gly630Val) single nucleotide variant Pathogenic rs121909384 GRCh37 Chromosome 16, 56919240: 56919240
19 SLC12A3 NM_000339.2(SLC12A3): c.1889G> T (p.Gly630Val) single nucleotide variant Pathogenic rs121909384 GRCh38 Chromosome 16, 56885328: 56885328
20 SLC12A3 NM_000339.2(SLC12A3): c.1868T> C (p.Leu623Pro) single nucleotide variant Pathogenic rs121909385 GRCh37 Chromosome 16, 56919219: 56919219
21 SLC12A3 NM_000339.2(SLC12A3): c.1868T> C (p.Leu623Pro) single nucleotide variant Pathogenic rs121909385 GRCh38 Chromosome 16, 56885307: 56885307
22 SLC12A3 NM_000339.2(SLC12A3): c.488C> T (p.Thr163Met) single nucleotide variant no interpretation for the single variant rs267607050 GRCh37 Chromosome 16, 56902267: 56902267
23 SLC12A3 NM_000339.2(SLC12A3): c.488C> T (p.Thr163Met) single nucleotide variant no interpretation for the single variant rs267607050 GRCh38 Chromosome 16, 56868355: 56868355
24 SLC12A3 SLC12A3, 2-BP DEL, 2881AG deletion Pathogenic
25 SLC12A3 NM_000339.2(SLC12A3): c.2612G> A (p.Arg871His) single nucleotide variant no interpretation for the single variant rs267607051 GRCh37 Chromosome 16, 56928506: 56928506
26 SLC12A3 NM_000339.2(SLC12A3): c.2612G> A (p.Arg871His) single nucleotide variant no interpretation for the single variant rs267607051 GRCh38 Chromosome 16, 56894594: 56894594
27 SLC12A3 NM_000339.2(SLC12A3): c.2310C> T (p.Gly770=) single nucleotide variant Uncertain significance rs375542454 GRCh37 Chromosome 16, 56924210: 56924210
28 SLC12A3 NM_000339.2(SLC12A3): c.2310C> T (p.Gly770=) single nucleotide variant Uncertain significance rs375542454 GRCh38 Chromosome 16, 56890298: 56890298
29 SLC12A3 NM_000339.2(SLC12A3): c.179C> T (p.Thr60Met) single nucleotide variant Pathogenic rs371443644 GRCh38 Chromosome 16, 56865414: 56865414
30 SLC12A3 NM_000339.2(SLC12A3): c.179C> T (p.Thr60Met) single nucleotide variant Pathogenic rs371443644 GRCh37 Chromosome 16, 56899326: 56899326
31 SLC12A3 NM_000339.2(SLC12A3): c.2221G> A (p.Gly741Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138977195 GRCh37 Chromosome 16, 56921879: 56921879
32 SLC12A3 NM_000339.2(SLC12A3): c.2221G> A (p.Gly741Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138977195 GRCh38 Chromosome 16, 56887967: 56887967
33 SLC12A3 NM_000339.2(SLC12A3): c.815T> C (p.Leu272Pro) single nucleotide variant Likely pathogenic rs568513106 GRCh37 Chromosome 16, 56904611: 56904611
34 SLC12A3 NM_000339.2(SLC12A3): c.815T> C (p.Leu272Pro) single nucleotide variant Likely pathogenic rs568513106 GRCh38 Chromosome 16, 56870699: 56870699
35 SLC12A3 NM_000339.2(SLC12A3): c.1216A> C (p.Asn406His) single nucleotide variant Uncertain significance rs759532318 GRCh38 Chromosome 16, 56879108: 56879108
36 SLC12A3 NM_000339.2(SLC12A3): c.1216A> C (p.Asn406His) single nucleotide variant Uncertain significance rs759532318 GRCh37 Chromosome 16, 56913020: 56913020
37 SLC12A3 NM_000339.2(SLC12A3): c.1706C> T (p.Ala569Val) single nucleotide variant Uncertain significance rs79351185 GRCh38 Chromosome 16, 56884085: 56884085
38 SLC12A3 NM_000339.2(SLC12A3): c.1706C> T (p.Ala569Val) single nucleotide variant Uncertain significance rs79351185 GRCh37 Chromosome 16, 56917997: 56917997
39 SLC12A3 NM_000339.2(SLC12A3): c.1732G> A (p.Val578Met) single nucleotide variant Uncertain significance rs139329616 GRCh38 Chromosome 16, 56884111: 56884111
40 SLC12A3 NM_000339.2(SLC12A3): c.1732G> A (p.Val578Met) single nucleotide variant Uncertain significance rs139329616 GRCh37 Chromosome 16, 56918023: 56918023
41 SLC12A3 NM_000339.2(SLC12A3): c.2573T> A (p.Leu858His) single nucleotide variant Conflicting interpretations of pathogenicity rs185927948 GRCh38 Chromosome 16, 56894555: 56894555
42 SLC12A3 NM_000339.2(SLC12A3): c.2573T> A (p.Leu858His) single nucleotide variant Conflicting interpretations of pathogenicity rs185927948 GRCh37 Chromosome 16, 56928467: 56928467
43 SLC12A3 NM_000339.2(SLC12A3): c.249G> T (p.Arg83=) single nucleotide variant Conflicting interpretations of pathogenicity rs76750525 GRCh38 Chromosome 16, 56865484: 56865484
44 SLC12A3 NM_000339.2(SLC12A3): c.249G> T (p.Arg83=) single nucleotide variant Conflicting interpretations of pathogenicity rs76750525 GRCh37 Chromosome 16, 56899396: 56899396
45 SLC12A3 NM_000339.2(SLC12A3): c.366A> G (p.Ala122=) single nucleotide variant Benign/Likely benign rs2304479 GRCh38 Chromosome 16, 56867153: 56867153
46 SLC12A3 NM_000339.2(SLC12A3): c.366A> G (p.Ala122=) single nucleotide variant Benign/Likely benign rs2304479 GRCh37 Chromosome 16, 56901065: 56901065
47 SLC12A3 NM_000339.2(SLC12A3): c.1023C> T (p.Phe341=) single nucleotide variant Benign/Likely benign rs2229209 GRCh38 Chromosome 16, 56872714: 56872714
48 SLC12A3 NM_000339.2(SLC12A3): c.1023C> T (p.Phe341=) single nucleotide variant Benign/Likely benign rs2229209 GRCh37 Chromosome 16, 56906626: 56906626
49 SLC12A3 NM_000339.2(SLC12A3): c.1392C> A (p.Ala464=) single nucleotide variant Conflicting interpretations of pathogenicity rs118121751 GRCh38 Chromosome 16, 56879598: 56879598
50 SLC12A3 NM_000339.2(SLC12A3): c.1392C> A (p.Ala464=) single nucleotide variant Conflicting interpretations of pathogenicity rs118121751 GRCh37 Chromosome 16, 56913510: 56913510

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
Sources

Expression for Gitelman Syndrome

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Search GEO for disease gene expression data for Gitelman Syndrome.
Sources

Pathways for Gitelman Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Renin secretion 37
10.77 AGT REN
2
Diuretics Pathway, Pharmacodynamics 61
10.48 BSND CLCNKB KCNJ1 SLC12A1 SLC12A3
Sources

GO Terms for Gitelman Syndrome

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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 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 CLCNKB KCNJ1 SLC12A1 SLC12A3
2 ion transmembrane transport GO:0034220 9.67 BSND CLCNKB KCNJ1 SLC12A1
3 regulation of blood pressure GO:0008217 9.56 AGT REN
4 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.55 AGT CASR
5 excretion GO:0007588 9.54 CLCNKB KCNJ1
6 regulation of calcium ion transport GO:0051924 9.51 AGT CASR
7 cell volume homeostasis GO:0006884 9.49 SLC12A1 SLC12A3
8 vasodilation GO:0042311 9.48 AGT CASR
9 potassium ion homeostasis GO:0055075 9.46 SLC12A1 SLC12A3
10 chloride ion homeostasis GO:0055064 9.43 SLC12A1 SLC12A3
11 relaxation of vascular smooth muscle GO:0060087 9.4 PRKG1 RGS2
12 potassium ion import across plasma membrane GO:1990573 9.33 KCNJ1 SLC12A1 SLC12A3
13 renin-angiotensin regulation of aldosterone production GO:0002018 9.32 AGT REN
14 regulation of blood volume by renin-angiotensin GO:0002016 9.26 AGT REN
15 potassium ion import GO:0010107 9.13 KCNJ1 SLC12A1 SLC12A3
16 chloride transmembrane transport GO:1902476 9.02 BSND CASR CLCNKB SLC12A1 SLC12A3

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

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.4 BSND CLCNKB
2 voltage-gated chloride channel activity GO:0005247 9.37 BSND CLCNKB
3 potassium:chloride symporter activity GO:0015379 9.32 SLC12A1 SLC12A3
4 cation:chloride symporter activity GO:0015377 9.26 SLC12A1 SLC12A3
5 sodium ion transmembrane transporter activity GO:0015081 9.16 SLC12A1 SLC12A3
6 sodium:chloride symporter activity GO:0015378 8.96 SLC12A1 SLC12A3
7 sodium:potassium:chloride symporter activity GO:0008511 8.62 SLC12A1 SLC12A3
Sources

Sources for Gitelman Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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