MCID: GTL001
MIFTS: 60

Gitelman Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Gitelman Syndrome

About this section
Sources:
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Gitelman Syndrome:

Name: Gitelman Syndrome 50 33 11 46 23 24 13 52 68 12 48 37 66
Familial Hypokalemia-Hypomagnesemia 46 24 25
Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria 11 46
Potassium and Magnesium Depletion 46 68
Gitelman's Syndrome 46 24
Gs 24 68
 
Primary Renal Tubular Hypokalemic Hypomagnesemia with Hypocalciuria 52
Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria 24
Primary Renotubular Hypomagnesemia-Hypokalemia with Hypocalciuria 68
Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria 24
Bartter Syndrome Hypocalciuric Variant 68
Bartter Syndrome Gitelman Variant 68

Characteristics:

Orphanet epidemiological data:

52
gitelman syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

62
gitelman syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:

Orphanet: 52 
Rare renal diseases


External Ids:

OMIM50 263800
Disease Ontology11 DOID:0050450
MeSH37 D053579
NCIt43 C84730
Orphanet52 ORPHA358
SNOMED-CT60 3188003, 707756004
ICD10 via Orphanet29 N15.8
MESH via Orphanet38 D053579
UMLS via Orphanet67 C0268450

Summaries for Gitelman Syndrome

About this section
NIH Rare Diseases:46 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 glutamine deficiency, congenital and megaloblastic anemia-1, finnish type, and has symptoms including abdominal pain, polyuria and renal potassium wasting. An important gene associated with Gitelman Syndrome is SLC12A3 (Solute Carrier Family 12 Member 3), and among its related pathways is Diuretics Pathway, Pharmacodynamics. Affiliated tissues include kidney, testes and brain, and related mouse phenotypes are muscle and growth/size/body region.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic... (263800) more...

Wikipedia:69 Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic... more...

Related Diseases for Gitelman Syndrome

About this section

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1glutamine deficiency, congenital10.9
2megaloblastic anemia-1, finnish type10.9
3gerstmann syndrome10.9
4griscelli syndrome10.9
5pseudohypoparathyroidism10.7
6bartter syndrome, type 4a10.5BSND, CLCNKB
7hypophosphatemic rickets10.3CLCNKB, SLC12A1, SLC12A3
8adenoma10.3
9thyroiditis10.2
10hereditary night blindness10.2KCNJ1, SLC12A1
11dystonia 2510.2REN, SLC12A3
12silver-russell syndrome due to 7p11.2p13 microduplication10.2CASR, REN
13ovarian cancer10.2AGT, REN
14antiphospholipid syndrome10.2AGT, REN
15broad ligament malignant neoplasm10.1REN, SLC12A3
16chylocele of tunica vaginalis10.1AGT, REN
17cervix erosion10.1KCNJ1, SLC12A1
18hypoaldosteronism, congenital, due to cmo ii deficiency10.1AGT, REN
19neuroblastoma10.1
20glioma10.1
21hypokalemia10.1
22plica syndrome10.1AGT, REN
23albright's hereditary osteodystrophy10.1
24chondrocalcinosis10.1
25renal tubular dysgenesis10.0AGT, REN
26pseudohypoparathyroidism ic10.0
27gnas hyperfunction10.0
28cataract 21, multiple types10.0CLCNKB, REN
29cholera10.0
30pituitary adenoma10.0
31pituitary tumors10.0
32alzheimer disease10.0
33mononeuritis10.0AGT, REN, SLC12A3
34neuronitis9.9
35hypomagnesemia 1, intestinal9.9
36pseudohypoaldosteronism, type i9.9
37graves' disease9.9
38intracranial hypertension9.9
39c1q nephropathy9.9
40retinal vasculitis9.9CASR, REN, SLC12A3
41multiple endocrine neoplasia9.9
42mccune-albright syndrome, somatic, mosaic9.9
43pseudohypoparathyroidism, type ib9.9
44gilbert syndrome9.9
45leukemia9.8
46lymphoma9.8
47fibrous dysplasia9.8
48hypothyroidism9.8
49prostatitis9.8
50acrodysostosis9.8

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



Diseases related to gitelman syndrome

Symptoms for Gitelman Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

263800

Clinical features from OMIM:

263800

HPO human phenotypes related to Gitelman Syndrome:

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

UMLS symptoms related to Gitelman Syndrome:


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

Drugs & Therapeutics for Gitelman Syndrome

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MifepristonePhase 414484371-65-355245
Synonyms:
(11beta,17beta)-11-(4-(Dimethylamino)-phenyl)-17-hydroxy-17-(1-propynyl)estra-4,9-dien-3-one
(11beta,17beta)-11-(4-(Dimethylamino)phenyl)-17-hydroxy-17-(1-propynyl)-estra-4,9-dien-3-one
(11beta,17beta)-11-(4-(Dimethylamino)phenyl)-17-hydroxy-17-(1-propynyl)estra-4,9-dien-3-one
(11beta,17beta)-11-[4-(dimethylamino)phenyl]-17-hydroxy-17-prop-1-yn-1-ylestra-4,9-dien-3-one
(2E)-N-hydroxy-3-[4-({(2-hydroxyethyl)[2-(1H-indol-3-yl)ethyl]amino}methyl)phenyl]prop-2-enamide
(8S,11R,13S,14S,17S)-11-(4-dimethylaminophenyl)-17-hydroxy-13-methyl-17-prop-1-ynyl-1,2,6,7,8,11,12,14,15,16-decahydrocyclopenta[a]phenanthren-3-one
(E)-N-hydroxy-3-[4-[[2-hydroxyethyl-[2-(1H-indol-3-yl)ethyl]amino]methyl]phenyl]prop-2-enamide
11-(4-DIMETHYLAMINO-PHENYL)-17-HYDROXY-13-METHYL-17-PROP-1-YNYL-1,2,6,7,8,11,12,13,14,15,16,17-DODEC AHYDRO-CYCLOPENTA[A]PHENANTHREN-3-ONE
11-(4-DIMETHYLAMINO-phenyl)-17-hydroxy-13-methyl-17-prop-1-ynyl-1,2,6,7,8,11,12,13,14,15,16,17-dodec ahydro-cyclopenta[a]phenanthren-3-one
11beta-(4-(Dimethylamino)phenyl)-17-hydroxy-21-methyl-19-nor-17alpha-pregna-4,9-dien-20-m-3-on
11beta-(4-(Dimethylamino)phenyl)-17beta-hydroxy-17-(1-propynyl)estra-4,9-dien-3-on
11beta-(4-(N,N-Dimethylamino)phenyl)-17alpha-(prop-1-ynyl)-delta4,9-estradiene-17beta-ol-3-one
11beta-(4-Dimethyl-?amino)-?phenyl-17beta-hydroxy-17-(1-propynyl)-?estra-4,9-dien-3-one
11beta-(p-(Dimethylamino)phenyl)-17beta-hydroxy-17-(1-propynyl)estra-4,9-dien-3-one
122742-25-0
17-beta-Hydroxy-11-beta-(4-dimethylaminophenyl-1)-17-alpha-(prop-1-ynyl)oestra-4,9-dien-3-one
404951-53-7
83203-42-3
84371-65-3
AC1L1IOO
AC1O62SB
Ambap84371-65-3
BIDD:PXR0123
BPBio1_000262
BRD-K37270826-001-04-5
BRN 5779404
BSPBio_000238
C-1073
C07652
C29H35NO2
CHEBI:50692
CHEMBL157
CHEMBL356066
CI-1073
CID55245
CID6445533
CPD000058481
Contragest Brand of Mifepristone
Corlux
D00585
D015735
DB00834
Dacinostat
Danco Brand of Mifepristone
EC-000.2469
EU-0100801
Exelgyn Brand of Mifepristone
FT-0082666
HMS1568L20
HMS2052L05
HMS2090L22
HSCI1_000369
HSDB 6841
I14-11726
LAQ-824
LS-192513
LS-64723
Lopac0_000801
M 8046
 
M8046_SIGMA
MLS000069785
MLS001074115
Mifegyne
Mifeprex
Mifeprex (TN)
Mifepriston
Mifepristona
Mifepristona [Spanish]
Mifepristone (USAN/INN)
Mifepristone Contragest Brand
Mifepristone Danco Brand
Mifepristone Exelgyn Brand
Mifepristone [USAN:INN:BAN]
Mifepristonum
Mifepristonum [Latin]
Mifépristone
MolPort-003-849-222
NCGC00025179-05
NCGC00025179-08
NCGC00179632-01
NVP-LAQ 824
NVP-LAQ824
NVP-LAQ824, Dacinostat, LAQ824
Pictovir
Pictovir (TM)
Prestwick0_000299
Prestwick1_000299
Prestwick2_000299
Prestwick3_000299
Prestwick_570
R 38486
R-38486
R38486
RU 38486
RU 486
RU 486-6
RU-38486
RU-486
RU-486, MIFEPRISTONE
RU-486, RU-38486, Mifegyne, Mifeprex, Mifepristone
RU38486
RU486
S1095_Selleck
S1611_Selleck
SAM001246881
SMR000058481
SPBio_002457
Spectrum5_002045
TL8005515
UNII-320T6RNW1F
UNII-V10P524501
VGX-410
VGX-410C
VX-410
ZINC03831128
ZK 98296
ZK-98296
ZK98296
mifepristone
nchembio.313-comp12
2
ProgesteronePhase 451557-83-05994
Synonyms:
(S)-4-Pregnene-3,20-dione
(S)-Pregn-4-en-3,20-dione
(S)-Progesterone
.beta.-Progesterone
.delta.(sup4)-Pregnene-3,20-dione
.delta.4-Pregnene-3,20-dione
17.alpha.-Progesterone
17a-Progesterone
17alpha-Progesterone
17alpha-progesterone
17α-progesterone
1dbb
1h60
257630-50-5
3,20-Pregnene-4
32104FB6-BF81-4F6E-83C2-024DEEAEB272
4-Pregnen-3,20-dione
4-Pregnene-3,20-dione
46665_FLUKA
46665_RIEDEL
57-83-0
753497-20-0
8012-32-6
8023-13-0
AC-700
AC1L1LKF
AI3-51682
Agolutin
Akrolutin
BB_NC-0185
BHR-100
BIDD:ER0547
BIDD:PXR0094
BPBio1_000676
BRD-K64994968-001-03-6
BSPBio_000614
Bio-luton
C00410
CCRIS 533
CHEBI:17026
CHEMBL103
CID5994
CIDR
CMC_13406
COL-1620
CPD000058345
Colprosterone
Corlutin
Corlutina
Corluvite
Corporin
Corpus Luteum Hormone
Corpus luteum hormone
Crinone
Crinone (TN)
Crinone progesterone gel
Curretab
Cyclogest
Cyclogesterin
D00066
D4-Pregnene-3,20-dione
DB00396
DR-2011
Delalutin
Delta(4)-pregnene-3,20-dione
Duraprogen
EINECS 200-350-6
ETI-411
EU-0100895
Endometrin
Estima
FE-999913
Flavolutan
Fologenon
Gelbkoerperhormon
Gesterol
Gesterol 100
Gesterol 50
Gestiron
Gestone
Gestormone
Gestron
Glanducorpin
Gynlutin
Gynoluton
Gynolutone
HMS1569O16
HMS2051O05
HMS2090J07
HSDB 3389
Hormoflaveine
Hormoluton
Hydroxyprogesterone Caproate
Hydroxyprogesterone Caproic acid
LMST02030159
LS-234
Lingusorbs
Lipo-Lutin
Lipolutin
Lopac0_000895
Lucorteum
Lucorteum Sol
Lucorteum sol
Lugesteron
Luteal hormone
Luteinique
Luteocrin normale
Luteodyn
Luteogan
Luteohormone
Luteol
Luteol (VAN)
Luteopur
Luteosan
Luteostab
Luteovis
Luteum
Lutex
Lutidon
Lutin
Lutinus
Lutociclina
Lutocuclin M
Lutocyclin
Lutocyclin M
 
Lutocyclin m
Lutocylin
Lutocylol
Lutoform
Lutogyl
Lutogynon
Lutren
Lutromone
MLS000028517
MLS000758277
MLS001074187
MLS002222367
MPA
Membrettes
Methylpregnone
Micronized Progesterone
MolPort-001-794-643
NCGC00022185-03
NCGC00022185-04
NCGC00022185-05
NCGC00022185-06
NCGC00022185-07
NCGC00022185-08
NCGC00022185-09
NCGC00090798-01
NCGC00090798-02
NCI60_042166
NSC 64377
NSC 9704
NSC-9704
NSC64377
NSC9704
Nalutron
Natural Progesterone
P 0130
P0130_SIGMA
P0478
P3972_SIGMA
P6149_SIGMA
P7556_ALDRICH
P7556_SIGMA
P8783_SIGMA
P9776_SIGMA
PROGESTERONE
Percutacrine
Percutacrine Luteinique
Piaponon
Pranone
Pregn-4-en-3,20-dione
Pregn-4-ene-3,20-dione
Pregnene-3,20-dione
Pregnenedione
Prestwick0_000477
Prestwick1_000477
Prestwick2_000477
Prestwick3_000477
Prestwick_411
Primolut
Prochieve
Progeffik
Progekan
Progestan
Progestasert
Progesterol
Progesteron
Progesterona
Progesterona [INN-Spanish]
Progesterone
Progesterone (JP15/USP/INN)
Progesterone [INN:BAN:JAN]
Progesterone [Progestins]
Progesterone, water-soluble
Progesterone-Water Soluble
Progesterone: HBC complex
Progesteronum
Progesteronum [INN-Latin]
Progestin
Progestogel
Progestol
Progeston
Progestone
Progestosol
Progestrel
Progestron
Progestronol
Progestérone
Projestaject
Prolets
Prolidon
Prolutin
Proluton
Prolutone
Prometrium
Prometrium (TN)
Prontogest
Protormone
S00293
S1705_Selleck
SAM001247039
SMR000058345
SMR000653542
SPBio_002553
SR-01000000088
SR-01000000088-5
Spectrum5_002053
Syngesterone
Syngestrets
Synovex S
Syntolutan
U 3672
UNII-4G7DS2Q64Y
Utrogest
Utrogestan
Vitarrine
WLN: L E5 B666 OV MUTJ A1 E1 FV1
ZINC04428529
beta-Progesterone
bmse000482
component of Cyclogesterin
corpus luteum hormone
delta(4)-Pregnene-3,20-dione
delta(Sup 4)-Pregnene-3,20-dione
delta(Sup4)-pregnene-3,20-dione
delta(sup 4)-Pregnene-3,20-dione
delta4-Pregnene-3,20-dione
luteohormone
nchembio.2007.53-comp14
3
IndomethacinPhase 1, Phase 211053-86-13715
Synonyms:
1-(p-chlorobenzoyl)-5-methoxy-2-methylindole-3-acetic acid
1z9h
37242-43-6
503560-73-4
53-86-1
74252-25-8 (hydrochloride salt, tri-hydrate)
7681-54-1 (hydrochloride salt)
91853-74-6
AB00052022
AC-532
AC1L1GJQ
AKOS000592893
Aconip
Aconip (TN)
Amuno
Apo-Indomethacin
Arthrexin
Artracin
Artrinovo
Artrivia
BIDD:GT0132
BIM-0050670.0001
BPBio1_000160
BRD-K57222227-001-06-1
BRN 0497341
BSPBio_000144
BSPBio_001149
BSPBio_002176
Bio-0704
Bio2_000405
Bio2_000885
Bonidin
Bonidon
Bonidon Gel
C01926
CAS-53-86-1
CCRIS 3502
CHEBI:49662
CHEMBL6
CID3715
CPD-10545
Catlep
Chibro-amuno
Chrono-indicid
Chrono-indocid
Confortid
D00141
DB00328
DESMETHYL INDOMETHACIN
DivK1c_000271
Dolcidium
Dolcidium PL
Dolovin
Durametacin
EINECS 200-186-5
EU-0100692
Elmetacin
Flexin continus
HMS1362I11
HMS1568H06
HMS1792I11
HMS1920F21
HMS1990I11
HMS2089N19
HMS2091N09
HMS500N13
HSDB 3101
Hicin
I 7378
I0655
I7378_SIGMA
I8280_SIGMA
IDI1_000271
IDI1_002160
IMN
IN1454
Idomethine
Imbrilon
Inacid
Indacin
Indameth
Indmethacine
Indo-Lemmon
Indo-Spray
Indo-phlogont
Indo-rectolmin
Indo-tablinen
Indocid
Indocid (pharmaceutical)
Indocid Pda
Indocid Sr
Indocin
Indocin (TN)
Indocin I.V
Indocin I.V.
Indocin Sr
Indolar SR
Indomecol
Indomed
Indomee
Indomet 140
Indometacin
Indometacin (JP15/INN)
Indometacina
Indometacina [INN-Spanish]
Indometacine
Indometacine [INN-French]
Indometacinum
 
Indometacinum [INN-Latin]
Indometacyna
Indometacyna [Polish]
Indomethacin
Indomethacin & MAP-30
Indomethacin (USP)
Indomethacin [USAN:BAN]
Indomethacin, Indochron E-R, Indocin-SR, Indocid, Indocin, Indomethacin
Indomethacine
Indomethacinum
Indomethancin
Indomethazine
Indomethegan
Indomethine
Indometicina
Indometicina [Spanish]
Indomo
Indomod
Indoptic
Indoptol
Indorektal
Indoxen
Inflazon
Infrocin
Inteban sp
KBio1_000271
KBio2_000489
KBio2_001399
KBio2_003057
KBio2_003967
KBio2_005625
KBio2_006535
KBio3_000897
KBio3_000898
KBio3_001396
KBioGR_000395
KBioGR_000489
KBioSS_000489
KBioSS_001399
L000959
LS-187
LS-82147
Lausit
Liometacen
Lopac-I-7378
Lopac0_000692
MLS000069402
MLS000758212
MLS001074194
Metacen
Metartril
Methazine
Metindol
Mezolin
Miametan
Mikametan
Mobilan
MolMap_000032
MolPort-000-917-894
NCGC00015562-01
NCGC00015562-02
NCGC00015562-03
NCGC00015562-08
NCGC00015562-19
NCGC00024135-02
NCGC00024135-04
NCGC00024135-05
NCGC00024135-06
NCGC00024135-07
NCGC00024135-08
NCGC00024135-09
NCGC00024135-11
NCI-C56144
NCI60_041708
NINDS_000271
Novo-Methacin
Novomethacin
Oprea1_686105
Prestwick0_000272
Prestwick1_000272
Prestwick2_000272
Prestwick3_000272
Prestwick_597
Reumacide
Rhemacin LA
Rheumacin LA
S00108
S1723_Selleck
SMR000058195
SMR000449290
SPBio_000979
SPBio_002363
SPECTRUM1500350
Sadoreum
Spectrum2_000970
Spectrum3_000468
Spectrum4_000018
Spectrum5_000868
Spectrum_000919
Tannex
Tocris-1708
UNII-XXE1CET956
UPCMLD-DP023
UPCMLD-DP023:001
USAN
Vonum
indometacin
indomethacin
nchembio.147-comp11
{1-[(4-chlorophenyl)carbonyl]-5-methoxy-2-methyl-1H-indol-3-yl}acetic acid
4
OmeprazolePhase 1, Phase 233173590-58-64594
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(S)-(-)-Omeprazole
(S)-Omeprazole
119141-89-8
131959-78-9
172964-80-6
2,3,5-Trimethylpyridine/Omeprazole
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Aulcer
Axagon
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazole
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
Mopral
Morecon
NCGC00016925-01
 
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
5diureticsPhase 1, Phase 21338
6
EplerenonePhase 1, Phase 292107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
7
AmiloridePhase 1, Phase 2502016-88-8, 2609-46-316231
Synonyms:
17440-83-4 (hydrochloride)
1f5l
2016-88-8 (anhydrous hydrochloride)
2609-46-3
3,5-Diamino-N-(aminoiminomethyl)-6-chloropyrazinecarboxamide
3,5-Diamino-N-carbamimidoyl-6-chloropyrazine-2-carboxamide
3,5-diamino-6-chloro-N-(diaminomethylidene)pyrazine-2-carboxamide
3,5-diamino-N-[amino(imino)methyl]-6-chloropyrazine-2-carboxamide
3,5-diamino-N-carbamimidoyl-6-chloropyrazine-2-carboxamide
AB00053415
AC-13631
AC1L27IZ
AC1Q3POC
AMILORIDE
AMILORIDE (SEE ALSO: AMILORIDE HCL (2016-88-8))
Amiclaran
Amiclaran (TN)
Amikal (Hydrochloride dihydrate)
Amilorid
Amilorida
Amilorida [INN-Spanish]
Amiloride (INN)
Amiloride HCL
Amiloride [INN:BAN]
Amiloride hydrochloride hydrate
Amiloridum
Amiloridum [INN-Latin]
Amipramidin
Amipramidine
Amipramizid
Amipramizide
Amiprazidine
Amyloride
BCBcMAP01_000101
BIDD:GT0466
BPBio1_000015
BRD-K97181089-003-02-3
BRD-K97181089-310-03-0
BSPBio_000013
BSPBio_001572
BSPBio_001826
Bio1_000359
Bio1_000848
Bio1_001337
Bio2_000292
Bio2_000772
C06821
C6H8ClN7O
CCRIS 6545
CHEBI:2639
CHEMBL945
CID16231
CPD-10324
D07447
DB00594
DivK1c_000182
EINECS 220-024-7
Guanamprazin
 
Guanamprazine
HMS1791O14
HMS1989O14
HMS2089H05
IDI1_000182
IDI1_034042
KBio1_000182
KBio2_000292
KBio2_000394
KBio2_002860
KBio2_002962
KBio2_005428
KBio2_005530
KBio3_000583
KBio3_000584
KBio3_001326
KBioGR_000292
KBioGR_000544
KBioSS_000292
KBioSS_000394
LS-1094
Lopac-A-7410
Lopac0_000111
MK-870 (Hydrochloride dihydrate)
MLS000758249
MLS001060798
Midamor
Midamor (Hydrochloride dihydrate)
MolPort-005-934-472
MolPort-005-937-651
N-Amidino-3,5-diamino-6-chloropyrazinecarboxamide
N-Amidino-3,5-diamino-6-chlorpyrazincarboxamid
N-amidino-3,5-diamino-6-chloropyrazinecarboxamide
NCGC00015089-01
NCGC00015089-02
NCGC00015089-12
NCGC00024443-02
NCGC00024443-05
NCGC00024443-06
NCGC00024443-07
NCGC00024443-09
NINDS_000182
Prestwick0_000007
Prestwick1_000007
Prestwick2_000007
Prestwick3_000007
Pyrazinecarboxamide, 3,5-diamino-N-(aminoiminomethyl)-6-chloro-, monohydrochloride
SMR000449325
SMR000486264
SPBio_000136
SPBio_001934
ST079279
Spectrum2_000118
Spectrum3_000293
Spectrum4_000132
Spectrum5_000776
Spectrum_000034
Tocris-0890
UNII-7DZO8EB0Z3
ZINC04340269
8
Hydrochlorothiazide39858-93-53639
Synonyms:
125727-50-6
3,4-Dihydro-6-chloro-7-sulfamyl-1,2, 4-benzothi
3,4-Dihydrochlorothiazide
58-93-5
6-Chloro-7-sulfamoyl-3, 4-dihy
8049-49-8
AB00052012
AC-11072
AC1L1GDT
AC1Q55FM
AF-614/30832002
AKOS000121373
ARONIS24316
Acesistem
Acuilix
Acuretic
Aldactazide
Aldactazide 25/25
Aldazida
Aldectazide 50/50
Aldoril
Ambap58-93-5
Apo-Hydro
Apresazide
Aquarills
Aquarius
Aquazide H
Aquazide-H
BAS 00371709
BIDD:GT0153
BPBio1_000019
BRD-K13078532-001-05-2
BRN 0625101
BSPBio_000017
BSPBio_002132
Bio-0714
Bremil
Briazide
C7H8ClN3O4S2
CAS-58-93-5
CCRIS 2082
CHEMBL435
CID3639
CPD000035778
Caplaril
Capozide
Carozide
Catiazida
Chlorizide
Chlorosulthiadil
Chlorothiazide
Chlorsulfonamidodihydrobenzothiadiazine dioxide
Chlorzide
Chlothia
Cidrex
Clorana
Component of Butizide Prestabs
Concor Plus
Condiuren
D00340
D006852
DB00999
Diaqua
Dichlorosal
Dichlorotride
Dichlothiazide
Dichlotiazid
Dichlotride
Diclotride
Dicyclotride
Didral
Dihydran
Dihydrochlorothiazid
Dihydrochlorothiazide
Dihydrochlorothiazidum
Dihydrochlorurit
Dihydrochlorurite
Dihydroxychlorothiazidum
Direma
Disalunil
Disothiazid
Diu 25 Vigt
Diu-Melusin
Diu-melusin
Diuril
Diurogen
DivK1c_000289
Dixidrasi
Drenol
Dyazide
EINECS 200-403-3
EU-0100614
Esidrex
Esidrix
Esidrix (TN)
Esimil
Esoidrina
FT-0082750
Fluvin
H 4759
H1274
H2910_SIAL
H4759_SIAL
HCT
HCT-Isis
HCTZ
HCZ
HMS1568A19
HMS1920D19
HMS2091L05
HMS500O11
HMS553N04
HSDB 3096
Hidril
Hidro-Niagrin
Hidrochlortiazid
Hidroclorotiazida
Hidroclorotiazida [INN-Spanish]
Hidroronol
Hidrosaluretil
Hidrotiazida
Hyclosid
Hydrex-semi
Hydril
Hydro Par
Hydro-Aquil
Hydro-D
Hydro-Diuril
Hydro-Saluric
Hydro-T
Hydro-chlor
HydroDIURIL
Hydrochlorat
Hydrochloro Thiazide
Hydrochlorot
Hydrochlorothiazid
Hydrochlorothiazide
Hydrochlorothiazide (JP15/USP/INN)
Hydrochlorothiazide Intensol
Hydrochlorothiazide [INN:BAN:JAN]
 
Hydrochlorothiazidum
Hydrochlorothiazidum [INN-Latin]
Hydrochlorthiazide
Hydrochlorthiazidum
Hydrocot
Hydrodiuretic
Hydrodiuril
Hydropres
Hydrosaluric
Hydrothide
Hydrozide
Hydrozide Injection, Veterinary
Hypothiazid
Hypothiazide
Hytrid
Hyzaar
I09-0531
IDI1_000289
Idroclorotiazide
Idroclorotiazide [DCIT]
Idrotiazide
Inderide
Inderide 80/25
Indroclor
Ivaugan
Jen-Diril
KBio1_000289
KBio2_001357
KBio2_003925
KBio2_006493
KBio3_001352
KBioGR_000351
KBioSS_001357
LS-243
Lopac-H-4759
Lopac0_000614
Lopressor HCT
Lotensin HCT
Lotensin Hct
MLS000069619
Manuril
Maschitt
Maxzide
Maybridge Compound 10
Maybridge1_004336
Mazide 25 mg
Medozide
Megadiuril
Microzide
Microzide (TN)
Mictrin
Mikorten
Modurcen
Moduretic
MolPort-000-144-465
NCGC00015508-01
NCGC00015508-02
NCGC00015508-03
NCGC00015508-07
NCGC00015508-12
NCGC00021906-03
NCGC00021906-04
NCGC00021906-05
NCGC00021906-06
NCGC00021906-07
NCGC00021906-08
NCI-C55925
NCI60_004317
NINDS_000289
NSC 53477
NSC53477
Natrinax
Nefrix
Nefrol
Neo-Codema
Neo-Flumen
Neo-Minzil
Neo-codema
Neoflumen
Newtolide
Novodiurex
Oprea1_357174
Oretic
Pantemon
Panurin
Prestwick0_000009
Prestwick1_000009
Prestwick2_000009
Prestwick3_000009
Prestwick_263
Prinzide
Raunova Plus
Ro-Hydrazide
Ro-hydrazide
Roxane
S1708_Selleck
SAM002554901
SMR000035778
SPBio_001259
SPBio_001938
SPECTRUM1500335
STK315354
Saldiuril
Sectrazide
Selozide
Ser-Ap-Es
Servithiazid
Spectrum2_001040
Spectrum3_000456
Spectrum4_000006
Spectrum5_000824
Spectrum_000877
Spironazide
Su 5879
Tandiur
Thiaretic
Thiuretic
Thlaretic
Timolide
UNII-0J48LPH2TH
Unazid
Unipres
Urodiazin
Urozide
Vaseretic
Vetidrex
WLN: T66 BSWM EM DHJ HG ISZW
ZINC00896569
Ziac
Zide
adiazine-1,1-dioxide
component of Aldactazide
component of Aldoril
component of Caplaril
component of Cyclex
component of Dyazide
component of Esimil
diclot ride
dro-2H-1,2,4-benzothiadiazine 1,1-dioxide
hydrochlorothiazide
panurin dichloride

Interventional clinical trials:

idNameStatusNCT IDPhase
1Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome)CompletedNCT02297048Phase 4
2Input of the Use of Indometacin in Gitelman Syndrome as Compared to Potassium Sparing DiureticsCompletedNCT01146197Phase 1, Phase 2
3A Translational Approach to Gitelman SyndromeCompletedNCT00822107
4Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl CotransporterRecruitingNCT02035046

Search NIH Clinical Center for Gitelman Syndrome


Cochrane evidence based reviews: gitelman syndrome

Genetic Tests for Gitelman Syndrome

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Genetic tests related to Gitelman Syndrome:

id Genetic test Affiliating Genes
1 Familial Hypokalemia-Hypomagnesemia25
2 Gitelman Syndrome23 SLC12A3

Anatomical Context for Gitelman Syndrome

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MalaCards organs/tissues related to Gitelman Syndrome:

34
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:
id TissueAnatomical CompartmentCell Relevance
1 KidneyDistal TubuleDistal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Gitelman Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Gitelman Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.4AGT, CASR, MYH10, PRKG1, REN, RGS2
2MP:00053787.1AGT, BSND, CASR, KCNJ1, MYH10, REN
3MP:00107686.7AGT, BSND, CASR, KCNJ1, MYH10, PRKG1
4MP:00036316.7AGT, BSND, MYH10, PRKG1, REN, RGS2
5MP:00053675.8AGT, BSND, CASR, CLCNKB, KCNJ1, PRKG1
6MP:00053865.7AGT, BSND, CASR, KCNJ1, MYH10, PRKG1
7MP:00053855.7AGT, BSND, KCNJ1, MYH10, PRKG1, REN
8MP:00053765.5AGT, BSND, CASR, CLCNKB, KCNJ1, MYH10

Publications for Gitelman Syndrome

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Articles related to Gitelman Syndrome:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Mutation profile and treatment of Gitelman syndrome in Chinese patients. (27216017)
2016
2
Schizophrenia-like psychosis and gitelman syndrome: a case report and literature review. (27386324)
2016
3
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. (27303630)
2016
4
Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study. (27339375)
2016
5
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort. (27454426)
2016
6
Graves' disease and Gitelman syndrome. (26041598)
2015
7
An adolescent with tingling and numbness of hand: gitelman syndrome. (25709976)
2015
8
Coexistence of Graves' Disease in a 14-year-old Young Girl with Gitelman Syndrome. (25892104)
2015
9
Pseudo Gitelman Syndrome Associated With Pregnancy. (25923028)
2015
10
NORMOMAGNESEMIC GITELMAN SYNDROME PATIENTS EXHIBIT A STRONGER REACTION TO THIAZIDE THAN HYPOMAGNESEMIC PATIENTS. (26121437)
2015
11
A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review. (26260218)
2015
12
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
13
Pemphigus vegetans associated with Gitelman syndrome. (26515865)
2015
14
Gitelman syndrome with hiponatremia, a rare presentation. (24658204)
2014
15
Clinical severity of Gitelman syndrome determined by serum magnesium. (24776766)
2014
16
Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene. (25140267)
2014
17
Indomethacin, Amiloride, or Eplerenone for Treating Hypokalemia in Gitelman Syndrome. (25012174)
2014
18
A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. (25852896)
2014
19
Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus. (24825090)
2014
20
Gitelman syndrome. (23585506)
2013
21
Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia. (24171002)
2013
22
Abnormal glucose metabolism and insulin sensitivity in Chinese patients with Gitelman syndrome. (23392128)
2013
23
Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. (23328711)
2013
24
Gitelman syndrome. (22645210)
2012
25
Concomitance of Gitelman syndrome and familial Mediterranean fever: a rare case presentation. (23009175)
2012
26
Severe intraglomerular detachment of podocytes in a Gitelman syndrome patient. (22484642)
2012
27
Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. (21705784)
2011
28
Focal segmental glomerulosclerosis in association with Gitelman syndrome. (20625829)
2011
29
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
30
Gitelman syndrome due to p.A204T mutation in CLCNKB gene. (20931281)
2010
31
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. (19207868)
2009
32
Gitelman syndrome. (18667063)
2008
33
Acquired Gitelman syndrome in a patient with primary SjAPgren syndrome. (18805608)
2008
34
C1q nephropathy in association with Gitelman syndrome: a case report. (16955279)
2006
35
Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found. (17159356)
2006
36
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. (16429844)
2006
37
Sclerochoroidal calcification associated with Gitelman syndrome and calcium pyrophosphate dihydrate deposition. (16311360)
2005
38
Cardiac work up in primary renal hypokalaemia-hypomagnesaemia (Gitelman syndrome). (15034158)
2004
39
Normal plasma total magnesium in Gitelman syndrome. (15063827)
2004
40
Is normalisation of serum potassium and magnesium always necessary in Gitelman Syndrome for a successful obstetric outcome? (15198796)
2004
41
Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. (14750096)
2004
42
Gitelman syndrome. An overlooked disease with chronic hypomagnesemia and hypokalemia in adults]. (12677988)
2003
43
Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. (12185467)
2002
44
Aldosterone influences serum magnesium in Gitelman syndrome. (11015018)
2000
45
A boy presenting with familial short stature--diagnosis Gitelman syndrome. (10614549)
1999
46
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. (10492336)
1999
47
Dose related growth response to indometacin in Gitelman syndrome. (10569969)
1999
48
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. (9734597)
1998
49
Gitelman syndrome comes of age. (9681697)
1998
50
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. (8900229)
1996

Variations for Gitelman Syndrome

About this section

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

68 (show all 117)
id Symbol AA change Variation ID SNP ID
1SLC12A3p.Arg209TrpVAR_007113rs28936388
2SLC12A3p.Pro349LeuVAR_007114rs121909383
3SLC12A3p.Cys421ArgVAR_007115rs28936387
4SLC12A3p.Asp486AsnVAR_007116rs753523115
5SLC12A3p.Gly496CysVAR_007117rs777612082
6SLC12A3p.Ala588ValVAR_007119rs121909382
7SLC12A3p.Gly630ValVAR_007120rs28936389
8SLC12A3p.Arg655HisVAR_007121rs121909380
9SLC12A3p.Arg655LeuVAR_007122rs121909380
10SLC12A3p.Gly741ArgVAR_007124rs138977195
11SLC12A3p.Leu850ProVAR_007125rs121909379
12SLC12A3p.Arg955GlnVAR_007126rs202114767
13SLC12A3p.Thr60MetVAR_039475rs371443644
14SLC12A3p.Asp62AsnVAR_039476
15SLC12A3p.Glu68LysVAR_039477rs763210286
16SLC12A3p.His69AsnVAR_039478rs780502516
17SLC12A3p.His90TyrVAR_039479
18SLC12A3p.Arg145HisVAR_039480rs374324018
19SLC12A3p.Val153MetVAR_039481rs779074538
20SLC12A3p.Ile154PheVAR_039482rs748547209
21SLC12A3p.Arg158GlnVAR_039483
22SLC12A3p.Thr163MetVAR_039484rs267607050
23SLC12A3p.Trp172ArgVAR_039485rs757792232
24SLC12A3p.Ser178LeuVAR_039486rs772589653
25SLC12A3p.Thr180LysVAR_039487rs146158333
26SLC12A3p.Gly186AspVAR_039488
27SLC12A3p.Arg209GlnVAR_039489rs28936388
28SLC12A3p.Leu215ProVAR_039490rs780594361
29SLC12A3p.Ala226ThrVAR_039491rs774753202
30SLC12A3p.Gly230AspVAR_039492rs375990084
31SLC12A3p.Arg261HisVAR_039493
32SLC12A3p.Ser283TyrVAR_039495
33SLC12A3p.Lys284ArgVAR_039496
34SLC12A3p.Thr304ProVAR_039497rs753840283
35SLC12A3p.Ala313ValVAR_039498rs140551719
36SLC12A3p.Gly316ValVAR_039499rs748920885
37SLC12A3p.Arg321TrpVAR_039500rs150046661
38SLC12A3p.Arg334TrpVAR_039501rs770702194
39SLC12A3p.Gly342AlaVAR_039502
40SLC12A3p.Gly374ValVAR_039503rs773669504
41SLC12A3p.Arg399CysVAR_039504rs775931992
42SLC12A3p.Gly439SerVAR_039505rs759377924
43SLC12A3p.Gly463GluVAR_039506
44SLC12A3p.Ala464ThrVAR_039507rs201945662
45SLC12A3p.Lys478GluVAR_039508
46SLC12A3p.Leu542ProVAR_039509rs574357286
47SLC12A3p.Ser555LeuVAR_039510rs148038173
48SLC12A3p.Pro560HisVAR_039511
49SLC12A3p.Ala569GluVAR_039512
50SLC12A3p.Ala569ValVAR_039513rs79351185
51SLC12A3p.Val578MetVAR_039514rs139329616
52SLC12A3p.Gly613SerVAR_039515
53SLC12A3p.Ser615LeuVAR_039516rs779160677
54SLC12A3p.Ser615TrpVAR_039517
55SLC12A3p.Leu623ProVAR_039518rs121909385
56SLC12A3p.Arg642CysVAR_039519rs200697179
57SLC12A3p.Arg642GlyVAR_039520rs200697179
58SLC12A3p.Arg642HisVAR_039521rs147901432
59SLC12A3p.Pro643LeuVAR_039522rs140012781
60SLC12A3p.Thr649ArgVAR_039523
61SLC12A3p.Arg655CysVAR_039524rs747249619
62SLC12A3p.Met672IleVAR_039525
63SLC12A3p.Val677LeuVAR_039526
64SLC12A3p.Val677MetVAR_039527rs771326058
65SLC12A3p.Gly729ValVAR_039528rs373901523
66SLC12A3p.Gly731ArgVAR_039529rs752101663
67SLC12A3p.Leu738ArgVAR_039530
68SLC12A3p.Leu849HisVAR_039531rs185927948
69SLC12A3p.Arg852CysVAR_039532rs373899077
70SLC12A3p.Arg852HisVAR_039533rs751929135
71SLC12A3p.Arg852SerVAR_039534
72SLC12A3p.Gly867SerVAR_039535rs370301695
73SLC12A3p.Arg871HisVAR_039536
74SLC12A3p.Arg958GlyVAR_039539rs773428143
75SLC12A3p.Cys985TyrVAR_039540rs199849117
76SLC12A3p.Asp62HisVAR_075931
77SLC12A3p.Arg83GlnVAR_075932
78SLC12A3p.Arg83TrpVAR_075933
79SLC12A3p.Glu121AspVAR_075934
80SLC12A3p.Arg135CysVAR_075935
81SLC12A3p.Arg145CysVAR_075936
82SLC12A3p.Ile150MetVAR_075937
83SLC12A3p.Leu157ProVAR_075938
84SLC12A3p.Arg158LeuVAR_075939
85SLC12A3p.Ala166ValVAR_075940
86SLC12A3p.Ile192ThrVAR_075941
87SLC12A3p.Thr194IleVAR_075942
88SLC12A3p.Thr235ArgVAR_075943
89SLC12A3p.Asp259AsnVAR_075944
90SLC12A3p.Leu272ProVAR_075945
91SLC12A3p.Thr304MetVAR_075946
92SLC12A3p.Gly374GluVAR_075947
93SLC12A3p.Thr382MetVAR_075948
94SLC12A3p.Thr392IleVAR_075949
95SLC12A3p.Asn442SerVAR_075951
96SLC12A3p.Gly463ArgVAR_075952
97SLC12A3p.Ser475CysVAR_075953
98SLC12A3p.Tyr489HisVAR_075954
99SLC12A3p.Arg507CysVAR_075955
100SLC12A3p.Ala523ThrVAR_075956
101SLC12A3p.Asn534SerVAR_075957
102SLC12A3p.Phe536LeuVAR_075958
103SLC12A3p.Ser546GlyVAR_075959
104SLC12A3p.Pro560ArgVAR_075960
105SLC12A3p.Val647MetVAR_075962
106SLC12A3p.Pro735ArgVAR_075964
107SLC12A3p.Pro751LeuVAR_075965
108SLC12A3p.Ser824ThrVAR_075966
109SLC12A3p.Asp839AsnVAR_075967
110SLC12A3p.Leu849PheVAR_075968
111SLC12A3p.Arg862CysVAR_075969
112SLC12A3p.Met872ThrVAR_075970
113SLC12A3p.Arg887GlnVAR_075971
114SLC12A3p.Arg934TrpVAR_075972
115SLC12A3p.Gly980ArgVAR_075974
116SLC12A3p.Arg1009GlnVAR_075975
117SLC12A3p.Gln1021ArgVAR_075976

Clinvar genetic disease variations for Gitelman Syndrome:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC12A3NM_000339.2(SLC12A3): c.179C> T (p.Thr60Met)single nucleotide variantPathogenicrs371443644GRCh38Chr 16, 56865414: 56865414
2SLC12A3NM_000339.2(SLC12A3): c.815T> C (p.Leu272Pro)single nucleotide variantLikely pathogenicrs568513106GRCh37Chr 16, 56904611: 56904611
3SLC12A3NM_000339.2(SLC12A3): c.2576T> C (p.Leu859Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121909379GRCh37Chr 16, 56928470: 56928470
4SLC12A3NM_000339.2(SLC12A3): c.1261T> C (p.Cys421Arg)single nucleotide variantPathogenicrs28936387GRCh37Chr 16, 56913065: 56913065
5SLC12A3NM_000339.2(SLC12A3): c.625C> T (p.Arg209Trp)single nucleotide variantPathogenicrs28936388GRCh37Chr 16, 56904031: 56904031
6SLC12A3SLC12A3, IVS15AS, G-T, -1single nucleotide variantPathogenic
7SLC12A3NM_000339.2(SLC12A3): c.1964G> A (p.Arg655His)single nucleotide variantPathogenicrs121909380GRCh37Chr 16, 56920314: 56920314
8SLC12A3NM_000339.2(SLC12A3): c.1964G> T (p.Arg655Leu)single nucleotide variantPathogenicrs121909380GRCh37Chr 16, 56920314: 56920314
9SLC12A3SLC12A3, IVS23DS, G-T, +1single nucleotide variantPathogenic
10SLC12A3NM_000339.2(SLC12A3): c.1763C> T (p.Ala588Val)single nucleotide variantPathogenicrs121909382GRCh37Chr 16, 56918054: 56918054
11SLC12A3NM_000339.2(SLC12A3): c.1046C> T (p.Pro349Leu)single nucleotide variantPathogenicrs121909383GRCh37Chr 16, 56906649: 56906649
12SLC12A3SLC12A3, 3-BP DELdeletionPathogenic
13SLC12A3NM_000339.2(SLC12A3): c.1889G> T (p.Gly630Val)single nucleotide variantPathogenicrs121909384GRCh37Chr 16, 56919240: 56919240
14SLC12A3NM_000339.2(SLC12A3): c.1868T> C (p.Leu623Pro)single nucleotide variantPathogenicrs121909385GRCh37Chr 16, 56919219: 56919219
15SLC12A3SLC12A3, 2-BP DEL, 2881AGdeletionPathogenic

Copy number variations for Gitelman Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1102593165545661955507263,deletionSLC12A3Gitelman Syndrome
2102594165545661955507263Genomic rearrangemen tSLC12A3Gitelman Syndrome

Expression for genes affiliated with Gitelman Syndrome

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Search GEO for disease gene expression data for Gitelman Syndrome.

Pathways for genes affiliated with Gitelman Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
18.4BSND, CLCNKB, KCNJ1, SLC12A1, SLC12A3, STK39

GO Terms for genes affiliated with Gitelman Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:00058866.0BSND, CASR, CLCNKB, KCNJ1, MYH10, PRKG1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1excretionGO:000758810.3CLCNKB, KCNJ1
2renin-angiotensin regulation of aldosterone productionGO:000201810.3AGT, REN
3regulation of anion transmembrane transportGO:190395910.2BSND, CLCNKB
4potassium ion transportGO:000681310.1KCNJ1, SLC12A1, TSC1
5relaxation of vascular smooth muscleGO:006008710.0PRKG1, RGS2
6angiotensin maturationGO:00020039.9AGT, REN
7regulation of blood volume by renin-angiotensinGO:00020169.6AGT, REN
8chloride transmembrane transportGO:19024769.6BSND, CLCNKB, SLC12A1, SLC12A3
9kidney developmentGO:00018229.4AGT, REN, TSC1
10ion transmembrane transportGO:00342209.2BSND, CLCNKB, SLC12A1
11regulation of blood pressureGO:00082179.0AGT, REN, STK39

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated chloride channel activityGO:00052479.8BSND, CLCNKB

Sources for Gitelman Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet