MCID: GTL001
MIFTS: 63

Gitelman Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Aliases & Classifications for Gitelman Syndrome

About this section
Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 24GTR, 22GeneTests, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Gitelman Syndrome:

Name: Gitelman Syndrome 49 32 10 11 45 23 47 12 51 65 36 67
Familial Hypokalemia-Hypomagnesemia 45 23 24
Gitelman's Syndrome 45 22 23
Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria 10 45
Potassium and Magnesium Depletion 45 67
Gs 23 67
 
Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria 23
Primary Renal Tubular Hypokalemic Hypomagnesemia with Hypocalciuria 51
Primary Renotubular Hypomagnesemia-Hypokalemia with Hypocalciuria 67
Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria 23
Bartter Syndrome Hypocalciuric Variant 67
Bartter Syndrome Gitelman Variant 67


Classifications:

Orphanet: 51 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

51
gitelman syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM49 263800
Disease Ontology10 DOID:0050450
MeSH36 D053579
Orphanet51 358
UMLS via Orphanet66 C0268450
ICD10 via Orphanet28 N15.8
MESH via Orphanet37 D053579

Summaries for Gitelman Syndrome

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NIH Rare Diseases:45 Gitelman syndrome is a kidney condition that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. signs and symptoms vary widely, and do not appear before six years of age. it is usually diagnosed during adolescence or adulthood. common symptoms include painful muscle spasms (tetany), sometimes accompanied by abdominal pain, vomiting and fever; muscle weakness or cramping; dizziness; salt craving; and tingling or prickly sensations in the skin on the face (paresthesias). some experience fatigue, low blood pressure, and a painful joint condition called chondrocalcinosis. it can be caused by mutations in the slc12a3 or clcnkb genes and is inherited in an autosomal recessive manner. treatment may include supplementation of magnesium and a high-sodium and high potassium diet. last updated: 10/8/2014

MalaCards based summary: Gitelman Syndrome, also known as familial hypokalemia-hypomagnesemia, is related to adenoma and thyroiditis, and has symptoms including abdominal pain, autosomal recessive inheritance and polyuria. An important gene associated with Gitelman Syndrome is SLC12A3 (Solute Carrier Family 12 (Sodium/Chloride Transporter), Member 3), and among its related pathways is Diuretics Pathway, Pharmacodynamics. Affiliated tissues include kidney, skin and testes, and related mouse phenotypes are growth/size/body and hematopoietic system.

Genetics Home Reference:23 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:49 Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic... (263800) more...

UniProtKB/Swiss-Prot:67 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:68 Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic... more...

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 202)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma10.5
2thyroiditis10.5
3hypokalemia10.5
4pseudohypoparathyroidism10.5
5neuroblastoma10.4
6albright's hereditary osteodystrophy10.3
7kindler syndrome10.3
8renal tubular transport disease10.3
9urinary system disease10.3
10cholera10.3
11pituitary adenoma10.3
12pituitary tumors10.3
13leukemia10.2
14neuronitis10.2
15adult syndrome10.2
16membranous nephropathy10.2
17coronary heart disease 610.2
18chondrocalcinosis10.2
19graves' disease10.2
20primary hyperoxaluria10.2
21intracranial hypertension10.2
22kidney disease10.2
23c1q nephropathy10.2
24bartter syndrome, type 4a10.2BSND, CLCNKB
25lung cancer10.2
26prepuce cancer10.2
27thoracic cancer10.2
28multiple endocrine neoplasia10.2
29nephrolithiasis, type i10.1CLCNKB, SLC12A1, SLC12A3
30benign dermal neurilemmoma10.1CLCNKB, KCNJ1, SLC12A1
31pseudobulbar palsy10.1CLCNKB, KCNJ1, SLC12A1
32placenta praevia10.1KCNJ1, SLC12A1
33uterine fibroid10.1KCNJ1, SLC12A1
34idiopathic membranous glomerulonephritis10.1AGT, REN
35marden-walker syndrome10.1REN, SLC12A3
36fibrosing mediastinitis10.1AGT, REN
37perinephritis10.1AGT, REN
38aldosteronism, glucocorticoid-remediable10.1AGT, REN
39breast cancer10.1
40hepatitis c virus10.1
41leukemia, chronic lymphocytic 210.1
42chronic lymphocytic leukemia10.1
43hepatitis10.1
44lymphoid leukemia10.1
45acrodysostosis10.1
46chronic leukemia10.1
47hepatitis c10.1
48hepatitis a10.1
49fibrous dysplasia10.1
50hypersensitivity reaction type iv disease10.1

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



Diseases related to gitelman syndrome

Symptoms for Gitelman Syndrome

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Symptoms by clinical synopsis from OMIM:

263800

Clinical features from OMIM:

263800

HPO human phenotypes related to Gitelman Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 abdominal pain rare (5%) HP:0002027
2 autosomal recessive inheritance HP:0000007
3 polyuria HP:0000103
4 renal potassium wasting HP:0000128
5 increased circulating renin level HP:0000848
6 chondrocalcinosis HP:0000934
7 seizures HP:0001250
8 tetany HP:0001281
9 hypokalemic alkalosis HP:0001949
10 polydipsia HP:0001959
11 hypokalemia HP:0002900
12 hypomagnesemia HP:0002917
13 hypocalciuria HP:0003127
14 generalized muscle weakness HP:0003324
15 muscle cramps HP:0003394
16 paresthesia HP:0003401
17 paralysis HP:0003470
18 juvenile onset HP:0003621
19 renal magnesium wasting HP:0005567

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
Mifepristoneapproved, investigationalPhase 413284371-65-355245
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
Korlym
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
ProgesteroneapprovedPhase 447357-83-05994
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
Indomethacinapproved, investigationalPhase 1, Phase 29753-86-13715
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 Er
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
Tivorbex
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
Omeprazoleapproved, investigationalPhase 1, Phase 229973590-58-64594
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
Being Well Omeprazole
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Care One Omeprazole
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dg Health Omeprazole
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Equaline Omeprazole
Equate Omeprazole Delayed Release acid reducer
Erbolin
Esomeprazole
Esomperazole
Esopral
Exchange Select Omeprazole
Exter
Family Wellness Omeprazole
Formu Care Omeprazole
Fulton Street Market Omeprazole
Gasec
Gastrimut
Gastroloc
Gibancer
Good Neighbor Pharmacy Omeprazole
Good Sense Omeprazole
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
Harmon Face Values Omeprazole
Health Mart Omeprazole
Healthy Accents Omeprazole
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
Kirkland Signature Omeprazole
LS-7629
Leader Omeprazole
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Members Mark Omeprazole
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
Olex
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Delayed Release
Omeprazole Delayed-release
Omeprazole Magnesium
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazole sodium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesec
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Omez
Omezol
Omezolan
Omid
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Omizac
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Ortanol
Osiren
Ozoken
Paprazol
Parizac
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Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Preferred Plus Omeprazole
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Quality Choice Omeprazole
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
Shoprite Omeprazole
Simply Right Omeprazole
Smart Sense Omeprazole
Sunmark Omeprazole
TL8005099
Tedec Ulceral
Topcare Omeprazole
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
5
EplerenoneapprovedPhase 1, Phase 287107724-20-9150310, 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
6
AmilorideapprovedPhase 1, Phase 2452016-88-816231
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
Amiloride (INN)
Amiloride HCL
Amiloride Hydrochloride
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
Diurex
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
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
7MineralocorticoidsPhase 1, Phase 2294
8
Hydrochlorothiazideapproved37558-93-53639
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
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Microzide
Microzide (TN)
Mictrin
Mikorten
Modurcen
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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
3Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl CotransporterRecruitingNCT02035046
4A Translational Approach to Gitelman SyndromeNot yet recruitingNCT00822107

Search NIH Clinical Center for Gitelman Syndrome


Cochrane evidence based reviews: Gitelman Syndrome

Genetic Tests for Gitelman Syndrome

About this section

Genetic tests related to Gitelman Syndrome:

id Genetic test Affiliating Genes
1 Gitelman Syndrome22 SLC12A3
2 Familial Hypokalemia-Hypomagnesemia24

Anatomical Context for Gitelman Syndrome

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MalaCards organs/tissues related to Gitelman Syndrome:

33
Kidney, Skin, 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
2 EyeGanglion Cell LayerMature Ganglion Cells Affected by disease

Animal Models for Gitelman Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Gitelman Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.8AGT, BSND, CASR, KCNJ1, MYH10, REN
2MP:00053977.5BSND, CASR, KCNJ1, PRKG1, REN, RGS2
3MP:00053697.4AGT, CASR, MYH10, PRKG1, REN, RGS2
4MP:00053897.4AGT, PRKG1, REN, SLC12A1, STK39, TSC1
5MP:00107687.0AGT, BSND, CASR, KCNJ1, MYH10, PRKG1
6MP:00036316.9AGT, BSND, MYH10, PRKG1, REN, RGS2
7MP:00053866.4AGT, BSND, CASR, KCNJ1, MYH10, PRKG1
8MP:00053676.3AGT, BSND, CASR, KCNJ1, PRKG1, REN
9MP:00053856.1AGT, BSND, KCNJ1, MYH10, PRKG1, REN
10MP:00053765.9AGT, BSND, CASR, KCNJ1, MYH10, PRKG1

Publications for Gitelman Syndrome

About this section

Articles related to Gitelman Syndrome:

(show top 50)    (show all 126)
idTitleAuthorsYear
1
Graves' disease and Gitelman syndrome. (26041598)
2015
2
A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene. (26306968)
2015
3
Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature. (25990047)
2015
4
An adolescent with tingling and numbness of hand: gitelman syndrome. (25709976)
2015
5
Coexistence of Graves' Disease in a 14-year-old Young Girl with Gitelman Syndrome. (25892104)
2015
6
Gitelman syndrome with hiponatremia, a rare presentation. (24658204)
2014
7
Clinical severity of Gitelman syndrome determined by serum magnesium. (24776766)
2014
8
Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene. (25140267)
2014
9
Indomethacin, Amiloride, or Eplerenone for Treating Hypokalemia in Gitelman Syndrome. (25012174)
2014
10
A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. (25852896)
2014
11
Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome. (25060058)
2014
12
Localised normocalcaemic tetany secondary to dehydration in an individual with Gitelman syndrome. (23632612)
2013
13
Gitelman syndrome. (23585506)
2013
14
SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations. (23756661)
2013
15
Renal phosphate handling in Gitelman syndrome--the results of a case-control study. (22990302)
2013
16
Adaptation in Gitelman syndrome: "we just want to pump you up". (22344514)
2012
17
Perioperative considerations in patients with Gitelman syndrome: a case series. (22284312)
2012
18
Understanding Bartter syndrome and Gitelman syndrome. (22282380)
2012
19
Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. (21705784)
2011
20
C1q nephropathy in a patient with Gitelman syndrome. (25984202)
2011
21
Focal segmental glomerulosclerosis in association with Gitelman syndrome. (20625829)
2011
22
Spectrum of mutations in Gitelman syndrome. (21415153)
2011
23
A case of Gitelman syndrome associated with idiopathic intracranial hypertension. (21757836)
2011
24
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
25
MER91B-assisted cryptic exon activation in Gitelman syndrome. (20234284)
2010
26
Gitelman syndrome, calcium pyrophosphate dihydrate deposition disease and crowned dens syndrome. A new association? (19952090)
2010
27
Gitelman syndrome during pregnancy: a therapeutic challenge. (19241082)
2009
28
Acquired gitelman syndrome. (21468178)
2009
29
Gitelman syndrome. (18667063)
2008
30
Characterization of a splicing abnormality in Gitelman syndrome. (18501801)
2008
31
Hypocalciuria in patients with Gitelman syndrome: role of blood volume. (17472852)
2007
32
Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption. (16854846)
2006
33
C1q nephropathy in association with Gitelman syndrome: a case report. (16955279)
2006
34
Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found. (17159356)
2006
35
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. (16429844)
2006
36
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. (17059986)
2006
37
Sclerochoroidal calcification associated with Gitelman syndrome and calcium pyrophosphate dihydrate deposition. (16311360)
2005
38
A novel splice site mutation of the thiazide-sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome. (15481849)
2004
39
Cardiac work up in primary renal hypokalaemia-hypomagnesaemia (Gitelman syndrome). (15034158)
2004
40
Functional Gitelman syndrome? (14981619)
2004
41
Normal plasma total magnesium in Gitelman syndrome. (15063827)
2004
42
Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. (12185467)
2002
43
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes. (11532083)
2001
44
Sclerochoroidal calcification associated with Gitelman syndrome. (10612520)
1999
45
A boy presenting with familial short stature--diagnosis Gitelman syndrome. (10614549)
1999
46
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. (10492336)
1999
47
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. (9734597)
1998
48
Gitelman syndrome comes of age. (9681697)
1998
49
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. (8865231)
1996
50
Gitelman syndrome and hypocalciuria. (1285778)
1992

Variations for Gitelman Syndrome

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

67 (show all 75)
id Symbol AA change Variation ID SNP ID
1SLC12A3p.Arg209TrpVAR_007113rs28936388
2SLC12A3p.Pro349LeuVAR_007114
3SLC12A3p.Cys421ArgVAR_007115rs28936387
4SLC12A3p.Asp486AsnVAR_007116
5SLC12A3p.Gly496CysVAR_007117
6SLC12A3p.Ala588ValVAR_007119
7SLC12A3p.Gly630ValVAR_007120rs28936389
8SLC12A3p.Arg655HisVAR_007121
9SLC12A3p.Arg655LeuVAR_007122
10SLC12A3p.Gly741ArgVAR_007124rs138977195
11SLC12A3p.Leu850ProVAR_007125
12SLC12A3p.Arg955GlnVAR_007126
13SLC12A3p.Thr60MetVAR_039475
14SLC12A3p.Asp62AsnVAR_039476
15SLC12A3p.Glu68LysVAR_039477
16SLC12A3p.His69AsnVAR_039478
17SLC12A3p.His90TyrVAR_039479
18SLC12A3p.Arg145HisVAR_039480
19SLC12A3p.Val153MetVAR_039481
20SLC12A3p.Ile154PheVAR_039482
21SLC12A3p.Arg158GlnVAR_039483
22SLC12A3p.Thr163MetVAR_039484
23SLC12A3p.Trp172ArgVAR_039485
24SLC12A3p.Ser178LeuVAR_039486
25SLC12A3p.Thr180LysVAR_039487rs146158333
26SLC12A3p.Gly186AspVAR_039488
27SLC12A3p.Arg209GlnVAR_039489rs28936388
28SLC12A3p.Leu215ProVAR_039490
29SLC12A3p.Ala226ThrVAR_039491
30SLC12A3p.Gly230AspVAR_039492
31SLC12A3p.Arg261HisVAR_039493
32SLC12A3p.Ser283TyrVAR_039495
33SLC12A3p.Lys284ArgVAR_039496
34SLC12A3p.Thr304ProVAR_039497
35SLC12A3p.Ala313ValVAR_039498
36SLC12A3p.Gly316ValVAR_039499
37SLC12A3p.Arg321TrpVAR_039500
38SLC12A3p.Arg334TrpVAR_039501
39SLC12A3p.Gly342AlaVAR_039502
40SLC12A3p.Gly374ValVAR_039503
41SLC12A3p.Arg399CysVAR_039504
42SLC12A3p.Gly439SerVAR_039505
43SLC12A3p.Gly463GluVAR_039506
44SLC12A3p.Ala464ThrVAR_039507
45SLC12A3p.Lys478GluVAR_039508
46SLC12A3p.Leu542ProVAR_039509
47SLC12A3p.Ser555LeuVAR_039510
48SLC12A3p.Pro560HisVAR_039511
49SLC12A3p.Ala569GluVAR_039512
50SLC12A3p.Ala569ValVAR_039513
51SLC12A3p.Val578MetVAR_039514rs139329616
52SLC12A3p.Gly613SerVAR_039515
53SLC12A3p.Ser615LeuVAR_039516
54SLC12A3p.Ser615TrpVAR_039517
55SLC12A3p.Leu623ProVAR_039518
56SLC12A3p.Arg642CysVAR_039519rs200697179
57SLC12A3p.Arg642GlyVAR_039520
58SLC12A3p.Arg642HisVAR_039521
59SLC12A3p.Pro643LeuVAR_039522rs140012781
60SLC12A3p.Thr649ArgVAR_039523
61SLC12A3p.Arg655CysVAR_039524
62SLC12A3p.Met672IleVAR_039525
63SLC12A3p.Val677LeuVAR_039526
64SLC12A3p.Val677MetVAR_039527
65SLC12A3p.Gly729ValVAR_039528
66SLC12A3p.Gly731ArgVAR_039529
67SLC12A3p.Leu738ArgVAR_039530
68SLC12A3p.Leu849HisVAR_039531rs185927948
69SLC12A3p.Arg852CysVAR_039532
70SLC12A3p.Arg852HisVAR_039533
71SLC12A3p.Arg852SerVAR_039534
72SLC12A3p.Gly867SerVAR_039535
73SLC12A3p.Arg871HisVAR_039536
74SLC12A3p.Arg958GlyVAR_039539
75SLC12A3p.Cys985TyrVAR_039540rs199849117

Clinvar genetic disease variations for Gitelman Syndrome:

5 (show all 16)
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 pathogenicrs568513106GRCh38Chr 16, 56870699: 56870699
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
15SLC12A3NM_000339.2(SLC12A3): c.488C> T (p.Thr163Met)single nucleotide variantPathogenicrs267607050GRCh37Chr 16, 56902267: 56902267
16SLC12A3SLC12A3, 2-BP DEL, 2881AGdeletionPathogenic

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 pathways (with members indented)ScoreTop 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
1integral component of plasma membraneGO:00058878.8BSND, CASR, CLCNKB, KCNJ1, SLC12A1, SLC12A3
2plasma membraneGO:00058866.0BSND, CASR, CLCNKB, KCNJ1, MYH10, PRKG1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cell volume homeostasisGO:000688410.4SLC12A1, SLC12A3
2chloride ion homeostasisGO:005506410.4SLC12A1, SLC12A3
3sodium ion homeostasisGO:005507810.4SLC12A1, SLC12A3
4potassium ion homeostasisGO:005507510.4SLC12A1, SLC12A3
5renin-angiotensin regulation of aldosterone productionGO:000201810.2AGT, REN
6drinking behaviorGO:004275610.1AGT, REN
7potassium ion importGO:001010710.0KCNJ1, SLC12A1, SLC12A3
8angiotensin maturationGO:00020039.8AGT, REN
9relaxation of vascular smooth muscleGO:00600879.7PRKG1, RGS2
10regulation of blood volume by renin-angiotensinGO:00020169.6AGT, REN
11regulation of calcium ion transportGO:00519249.6AGT, CASR
12chloride transportGO:00068219.5BSND, CLCNKB, SLC12A1, SLC12A3
13chloride transmembrane transportGO:19024769.5BSND, CLCNKB, SLC12A1, SLC12A3
14excretionGO:00075889.3AGT, CLCNKB, KCNJ1, SLC12A1
15regulation of blood pressureGO:00082179.0AGT, REN, STK39
16kidney developmentGO:00018228.5AGT, KCNJ1, REN, SLC12A1, TSC1

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

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium:chloride symporter activityGO:000851110.0SLC12A1, SLC12A3
2sodium ion transmembrane transporter activityGO:001508110.0SLC12A1, SLC12A3
3cation:chloride symporter activityGO:00153779.9SLC12A1, SLC12A3
4potassium ion symporter activityGO:00228209.9SLC12A1, SLC12A3
5sodium:chloride symporter activityGO:00153789.8SLC12A1, SLC12A3
6potassium:chloride symporter activityGO:00153799.6SLC12A1, SLC12A3

Sources for Gitelman Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet