Gitelman Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GTLMNS MCID: GTL001 MIFTS: 65	Gitelman Syndrome (GTLMNS) Categories: Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Gitelman Syndrome

MalaCards integrated aliases for Gitelman Syndrome:

Name: Gitelman Syndrome ⁵⁶ ¹² ⁷⁴ ⁵² ²⁵ ⁵⁸ ⁷³ ³⁶ ¹³ ⁵⁴ ⁴³ ¹⁵ ³⁹ ⁷¹

Familial Hypokalemia-Hypomagnesemia ⁵² ²⁵ ²⁹ ⁶

Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria ⁵⁶ ¹² ⁵²

Potassium and Magnesium Depletion ⁵⁶ ⁵² ⁷³

Gitelman's Syndrome ⁵² ²⁵

Gtlmns ⁵⁶ ⁷³

Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria ²⁵

Primary Renal Tubular Hypokalemic Hypomagnesemia with Hypocalciuria ⁵⁸

Primary Renotubular Hypomagnesemia-Hypokalemia with Hypocalciuria ⁷³

Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria ²⁵

Bartter Syndrome Hypocalciuric Variant ⁷³

Bartter Syndrome Gitelman Variant ⁷³

Gs ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the genitourinary system

Renal tubulo-interstitial diseases

Other renal tubulo-interstitial diseases

Other specified renal tubulo-interstitial diseases

Orphanet: ⁵⁸

Rare renal diseases

External Ids:

Disease Ontology ¹² DOID:0050450

OMIM ⁵⁶ 263800

KEGG ³⁶ H00240

MeSH ⁴³ D053579

NCIt ⁴⁹ C84730

SNOMED-CT ⁶⁷ 707756004

MESH via Orphanet ⁴⁴ D053579

ICD10 via Orphanet ³³ N15.8

UMLS via Orphanet ⁷² C0268450

Orphanet ⁵⁸ ORPHA358

MedGen ⁴¹ C0268450 C2930816

SNOMED-CT via HPO ⁶⁸ 10629009 111516008 111975006 more

UMLS ⁷¹ C0268450

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Summaries for Gitelman Syndrome

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. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paresthesias), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia. The signs and symptoms of Gitelman syndrome vary widely, even among affected members of the same family. Most people with this condition have relatively mild symptoms, although affected individuals with severe muscle cramping, paralysis, and slow growth have been reported.

MalaCards based summary : Gitelman Syndrome, also known as familial hypokalemia-hypomagnesemia, is related to primary hypomagnesemia 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Progesterone and Mifepristone have been mentioned in the context of this disorder. Affiliated tissues include Kidney, heart and skin, and related phenotypes are hypokalemia and muscle weakness

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).

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria and is caused by mutations in the thiazide-sensitive sodium chloride transporter.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood... more...

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Related Diseases for Gitelman Syndrome

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

(show top 50) (show all 416)

#	Related Disease	Score	Top Affiliating Genes
1	primary hypomagnesemia	31.6	TRPM6 SLC12A1 KCNJ1 CLDN16
2	bartter syndrome, type 3	31.2	TRPM6 SLC12A3 SLC12A1 REN KCNJ1 CLDN16
3	chondrocalcinosis	30.9	SLC12A3 REN CASR
4	hypokalemia	30.6	SLC12A3 SLC12A1 REN KCNJ10 KCNJ1 CLCNKB
5	bartter syndrome, type 4a, neonatal, with sensorineural deafness	30.5	KCNJ1 CLCNKB BSND
6	bartter syndrome, type 4b, neonatal, with sensorineural deafness	30.3	CLCNKB CLCNKA
7	bartter syndrome, type 2, antenatal	30.2	SLC12A1 KCNJ1 CASR
8	renal hypertension	30.2	SLC12A3 REN AGT
9	antenatal bartter syndrome	30.0	SLC12A1 REN KCNJ1 BSND
10	diabetes insipidus	29.8	SLC12A1 REN CLCNKB CLCNKA BSND
11	metabolic acidosis	29.8	WNK4 WNK1 KLHL3
12	dent disease 1	29.7	SLC12A1 KCNJ1 CLCNKB CLCNKA BSND
13	polyhydramnios	29.7	SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CLCNKA
14	kidney disease	29.6	SLC12A3 SLC12A1 REN CASR AGT
15	bartter syndrome, type 1, antenatal	29.6	SLC12A3 SLC12A1 KCNJ1 CLDN16 CASR
16	bartter disease	29.4	WNK4 WNK3 TRPM6 STK39 SLC12A3 SLC12A1
17	familial hypertension	29.3	WNK4 WNK1 REN KLHL3 AGT
18	hypocalcemia, autosomal dominant 1	29.2	TRPM6 KCNJ1 CLDN16 CLCNKB CASR BSND
19	nephrocalcinosis	29.0	TRPM6 SLC12A3 SLC12A1 REN KCNJ1 CLDN16
20	diabetes insipidus, nephrogenic, autosomal	29.0	SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CLCNKA
21	nephrolithiasis	28.8	SLC12A1 KCNJ1 CLDN16 CLCNKB CLCNKA CASR
22	liddle syndrome 1	27.9	WNK4 WNK3 WNK1 STK39 SLC12A3 SLC12A1
23	hypertension, essential	27.4	WNK4 WNK3 WNK1 STK39 STK24 SLC12A3
24	griscelli syndrome	12.3
25	mccune-albright syndrome	11.7
26	pseudohypoparathyroidism, type ic	11.6
27	pseudohypoparathyroidism	11.5
28	glutamine deficiency, congenital	11.5
29	osseous heteroplasia, progressive	11.5
30	pseudohypoparathyroidism, type ib	11.5
31	acromegaly	11.5
32	pseudohypoparathyroidism, type ii	11.5
33	goodpasture syndrome	11.4
34	hypomagnesemia 2, renal	11.2
35	pseudohypoaldosteronism, type i, autosomal recessive	11.2
36	imerslund-grasbeck syndrome 1	11.2
37	gerstmann syndrome	11.2
38	gilbert syndrome	11.2
39	cholera	10.9
40	pertussis	10.8
41	adenoma	10.5
42	pseudohypoparathyroidism, type ia	10.5
43	fibrous dysplasia	10.4
44	autosomal recessive disease	10.4
45	potter's syndrome	10.3	REN AGT
46	deafness, autosomal recessive 96	10.3	CLCNKB CLCNKA
47	pseudopseudohypoparathyroidism	10.3
48	glioma	10.3
49	pituitary tumors	10.3
50	glial tumor	10.3

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

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Symptoms & Phenotypes for Gitelman Syndrome

Human phenotypes related to Gitelman Syndrome:

⁵⁸ ³¹ (show top 50) (show all 82)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypokalemia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002900
2	muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001324
3	failure to thrive ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0001508
4	abdominal pain ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0002027
5	prolonged qt interval ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001657
6	hypomagnesemia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002917
7	low-to-normal blood pressure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002632
8	proteinuria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000093
9	delayed puberty ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000823
10	nausea and vomiting ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002017
11	hypocalcemia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002901
12	insulin resistance ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000855
13	muscle spasm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003394
14	enuresis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000805
15	hypermagnesemia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002918
16	nocturia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000017
17	metabolic alkalosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0200114
18	salt craving ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030083
19	renal potassium wasting ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000128
20	type ii diabetes mellitus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0005978
21	polydipsia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001959
22	type i diabetes mellitus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0100651
23	hyperhidrosis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000975
24	arthralgia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002829
25	chondrocalcinosis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000934
26	myalgia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0003326
27	hashimoto thyroiditis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000872
28	vertigo ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002321
29	constipation ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002019
30	paresthesia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0003401
31	varicose veins ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002619
32	insomnia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0100785
33	headache ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002315
34	gout ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001997
35	cerebral calcification ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002514
36	syncope ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001279
37	maternal diabetes ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0009800
38	neoplasm of the pancreas ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002894
39	respiratory distress ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002098
40	diarrhea ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002014
41	tinnitus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000360
42	paralysis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0003470
43	tubulointerstitial nephritis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001970
44	pericardial effusion ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001698
45	renal tubular acidosis ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001947
46	raynaud phenomenon ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0030880
47	urinary incontinence ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000020
48	abnormal t-wave ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0005135
49	scleroderma ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0100324
50	blurred vision ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000622

Symptoms via clinical synopsis from OMIM:

⁵⁶

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
tetany
muscle cramps

Genitourinary Kidneys:
renal potassium wasting
polyuria
renal magnesium wasting

Endocrine Features:
increased plasma renin

Clinical features from OMIM:

263800

UMLS symptoms related to Gitelman Syndrome:

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

GenomeRNAi Phenotypes related to Gitelman Syndrome according to GeneCards Suite gene sharing:

²⁶ (show all 14)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00107-A-1	10.69	STK39
2	Decreased viability	GR00221-A-1	10.69	STK24 TRPM6 WNK3 WNK4
3	Decreased viability	GR00221-A-2	10.69	STK24 STK39 TRPM6 WNK3 WNK4
4	Decreased viability	GR00221-A-3	10.69	WNK1
5	Decreased viability	GR00221-A-4	10.69	STK24 TRPM6 WNK1 WNK3 WNK4
6	Decreased viability	GR00240-S-1	10.69	PVALB STK39
7	Decreased viability	GR00249-S	10.69	AGT KCNJ1 SLC12A1 SLC12A3 STK39 WNK1
8	Decreased viability	GR00301-A	10.69	STK39
9	Decreased viability	GR00381-A-1	10.69	PVALB RGS2
10	Decreased viability	GR00386-A-1	10.69	AGT WNK1
11	Decreased viability	GR00402-S-2	10.69	CLDN16 RGS2 SLC12A1 SLC12A3 WNK1
12	Decreased cell viability after pRB stimulation	GR00230-A-1	9.26	STK39 WNK4
13	Increased senescence-associated beta-galactosidase protein expression after pRB stimulation	GR00230-A-2	8.65	WNK4
14	Increased the percentage of infected cells	GR00402-S-1	8.32	TRPM6

MGI Mouse Phenotypes related to Gitelman Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.23	AGT BSND CASR CLCNKA CLCNKB CLDN16
2	cardiovascular system	MP:0005385	10.21	AGT BSND CLCNKA KCNJ1 KLHL3 PVALB
3	hematopoietic system	MP:0005397	10.13	BSND CASR KCNJ1 KCNJ10 KLHL3 PVALB
4	mortality/aging	MP:0010768	9.97	AGT BSND CASR CLCNKA KCNJ1 KCNJ10
5	renal/urinary system	MP:0005367	9.6	AGT BSND CASR CLCNKA CLCNKB CLDN16
6	muscle	MP:0005369	9.5	AGT CASR PVALB REN RGS2 STK39

Sources

Drugs & Therapeutics for Gitelman Syndrome

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

(show all 12)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Progesterone

Approved, Vet_approved

Phase 4

57-83-0

5994

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

17alpha-progesterone

17alpha-Progesterone

17a-Progesterone

17α-progesterone

1dbb

1h60

257630-50-5

3,20-Pregnene-4

32104FB6-BF81-4F6E-83C2-024DEEAEB272

46665_FLUKA

46665_RIEDEL

4-Pregnen-3,20-dione

4-Pregnene-3,20-dione

57-83-0

753497-20-0

8012-32-6

8023-13-0

AC1L1LKF

AC-700

Agolutin

AI3-51682

Akrolutin

Amen

BB_NC-0185

beta-Progesterone

BHR-100

BIDD:ER0547

BIDD:PXR0094

bio-Luton

Bio-luton

Bio-Luton

bmse000482

BPBio1_000676

BRD-K64994968-001-03-6

BSPBio_000614

C00410

CCRIS 533

CHEBI:17026

CHEMBL103

CID5994

CIDR

CMC_13406

COL-1620

Colprosterone

component of Cyclogesterin

Corlutin

Corlutina

Corluvite

Corporin

corpus luteum hormone

Corpus luteum hormone

Corpus Luteum Hormone

CPD000058345

Crinone

Crinone (TN)

Crinone progesterone gel

Curretab

Cyclogest

Cyclogesterin

Cycrin

D00066

D4-Pregnene-3,20-dione

DB00396

Delalutin

delta(4)-Pregnene-3,20-dione

Delta(4)-pregnene-3,20-dione

Delta(4)-Pregnene-3,20-dione

delta(sup 4)-Pregnene-3,20-dione

delta(Sup4)-pregnene-3,20-dione

delta4-Pregnene-3,20-dione

DR-2011

Duraprogen

EINECS 200-350-6

Endometrin

Estima

ETI-411

EU-0100895

FE-999913

Flavolutan

Fologenon

Gelbkoerperhormon

Gelbkörperhormon

Gesterol

Gesterol 100

Gesterol 50

Gestiron

Gestone

Gestormone

Gestron

Glanducorpin

Gynlutin

Gynoluton

Gynolutone

HMS1569O16

HMS2051O05

HMS2090J07

Hormoflaveine

Hormoluton

HSDB 3389

Hydroxyprogesterone caproate

Hydroxyprogesterone caproic acid

Lingusorbs

lipo-Lutin

Lipolutin

Lipo-Lutin

LMST02030159

Lopac0_000895

LS-234

Lucorteum

Lucorteum sol

Lucorteum Sol

Lugesteron

Luteal hormone

Luteal Hormone

Luteinique

Luteocrin normale

Luteocrin Normale

Luteodyn

Luteogan

luteohormone

Luteohormone

Luteol

Luteol (VAN)

Luteopur

Luteosan

Luteostab

Luteovis

Luteum

Lutex

Lutidon

Lutin

Lutinus

Lutociclina

Lutocuclin m

Lutocuclin M

Lutocyclin

Lutocyclin m

Lutocyclin M

Lutocylin

Lutocylol

Lutoform

Lutogyl

Lutogynon

Lutren

Lutromone

Membrettes

Methylpregnone

Micronized Progesterone

MLS000028517

MLS000758277

MLS001074187

MLS002222367

MolPort-001-794-643

MPA

Nalutron

Natural Progesterone

NCGC00022185-03

NCGC00022185-04

NCGC00022185-05

NCGC00022185-06

NCGC00022185-07

NCGC00022185-08

NCGC00022185-09

NCGC00090798-01

NCGC00090798-02

nchembio.2007.53-comp14

NCI60_042166

NSC 64377

NSC 9704

NSC64377

NSC9704

NSC-9704

P 0130

P0130_SIGMA

P0478

P3972_SIGMA

P6149_SIGMA

P7556_ALDRICH

P7556_SIGMA

P8783_SIGMA

P9776_SIGMA

Percutacrine

Percutacrine luteinique

Percutacrine Luteinique

Piaponon

Pranone

Pregn-4-en-3,20-dione

Pregn-4-ene-3,20-dione

Pregnene-3,20-dione

Pregnenedione

Prestwick_411

Prestwick0_000477

Prestwick1_000477

Prestwick2_000477

Prestwick3_000477

Primolut

Prochieve

Progeffik

Progekan

Progestan

Progestasert

Progesterol

Progesteron

Progesterona

Progesterona [INN-Spanish]

Progesterone

PROGESTERONE

Progestérone

Progesterone (JP15/USP/INN)

Progesterone [INN:BAN:JAN]

Progesterone [Progestins]

Progesterone, (13 alpha,17 alpha)-(+-)-isomer

Progesterone, (17 alpha)-isomer

Progesterone, (9 beta,10 alpha)-isomer

Progesterone, water-soluble

Progesterone: HBC complex

Progesterone-Water Soluble

Progesteronum

Progesteronum [INN-Latin]

Progestin

Progestogel

Progestol

Progeston

Progestone

Progestosol

Progestrel

Progestron

Progestronol

Projestaject

Prolets

Prolidon

Prolutin

Proluton

Prolutone

Prometrium

Prometrium (TN)

Prontogest

Protormone

S00293

S1705_Selleck

SAM001247039

SMR000058345

SMR000653542

SPBio_002553

Spectrum5_002053

SR-01000000088

SR-01000000088-5

Syngesterone

Syngestrets

Synovex S

Syntolutan

Thiuram E

Thiuranide

U 3672

UNII-4G7DS2Q64Y

Utrogest

Utrogestan

Vitarrine

WLN: L E5 B666 OV MUTJ A1 E1 FV1

ZINC04428529

δ(4)-pregnene-3,20-dione

Mifepristone

Approved, Investigational

Phase 4

84371-65-3

55245

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)-17beta-hydroxy-17-(1-propynyl)estra-4,9-dien-3-on

11beta-(4-(Dimethylamino)phenyl)-17-hydroxy-21-methyl-19-nor-17alpha-pregna-4,9-dien-20-m-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

C07652

C-1073

C29H35NO2

CHEBI:50692

CHEMBL157

CHEMBL356066

CI-1073

CID55245

CID6445533

Contragest brand OF mifepristone

Contragest Brand of Mifepristone

Corlux

CPD000058481

D00585

D015735

Dacinostat

danco Brand OF mifepristone

Danco Brand of Mifepristone

DB00834

EC-000.2469

EU-0100801

Exelgyn brand OF mifepristone

Exelgyn Brand of Mifepristone

FT-0082666

HMS1568L20

HMS2052L05

HMS2090L22

HSCI1_000369

HSDB 6841

I14-11726

LAQ-824

Lopac0_000801

LS-192513

LS-64723

M 8046

M8046_SIGMA

Mifegyne

Mifégyne

Mifeprex

Mifeprex (TN)

Mifepriston

Mifepristona

Mifepristona [Spanish]

mifepristone

Mifepristone

Mifépristone

Mifepristone (USAN/INN)

Mifepristone [USAN:INN:BAN]

Mifepristone contragest brand

Mifepristone Contragest Brand

Mifepristone danco brand

Mifepristone Danco Brand

Mifepristone exelgyn brand

Mifepristone Exelgyn Brand

Mifepristonum

Mifepristonum [Latin]

MLS000069785

MLS001074115

MolPort-003-849-222

NCGC00025179-05

NCGC00025179-08

NCGC00179632-01

nchembio.313-comp12

NVP-LAQ 824

NVP-LAQ824

NVP-LAQ824, Dacinostat, LAQ824

Pictovir

Pictovir (TM)

Prestwick_570

Prestwick0_000299

Prestwick1_000299

Prestwick2_000299

Prestwick3_000299

R 38486

R38486

R-38486

RU 38486

RU 486

RU 486-6

RU38486

RU-38486

RU486

RU-486

RU-486, MIFEPRISTONE

RU-486, RU-38486, Mifegyne, Mifeprex, Mifepristone

S1095_Selleck

S1611_Selleck

SAM001246881

SMR000058481

SPBio_002457

Spectrum5_002045

TL8005515

UNII-320T6RNW1F

UNII-V10P524501

VGX-410

VGX-410C

VX-410

ZINC03831128

ZK 98296

ZK98296

ZK-98296

Amiloride

Approved

Phase 1, Phase 2

2016-88-8, 2609-46-3

16231

Synonyms:

17440-83-4 (hydrochloride)

1f5l

2016-88-8 (anhydrous hydrochloride)

2609-46-3

3,5-diamino-6-chloro-N-(diaminomethylidene)pyrazine-2-carboxamide

3,5-Diamino-N-(aminoiminomethyl)-6-chloropyrazinecarboxamide

3,5-diamino-N-[amino(imino)methyl]-6-chloropyrazine-2-carboxamide

3,5-diamino-N-carbamimidoyl-6-chloropyrazine-2-carboxamide

3,5-diamino-N-Carbamimidoyl-6-chloropyrazine-2-carboxamide

AB00053415

AC-13631

AC1L27IZ

AC1Q3POC

Alphapharm brand OF amiloride hydrochloride

Amiclaran

Amiclaran (TN)

Amidal

Amiduret trom

Amikal (Hydrochloride dihydrate)

Amiloberag

Amilorid

Amilorida

Amilorida [INN-Spanish]

Amiloride

AMILORIDE

Amiloride (INN)

AMILORIDE (SEE ALSO: AMILORIDE HCL (2016-88-8))

Amiloride [INN:BAN]

Amiloride HCL

Amiloride hydrochloride

Amiloride hydrochloride hydrate

Amiloride hydrochloride, anhydrous

Amiloridum

Amiloridum [INN-Latin]

Amipramidin

Amipramidine

Amipramizid

Amipramizide

Amiprazidine

AMR

Amrad brand OF amiloride hydrochloride

Amyloride

Anhydrous amiloride hydrochloride

BCBcMAP01_000101

Berolina brand OF amiloride hydrochloride

BIDD:GT0466

Bio1_000359

Bio1_000848

Bio1_001337

Bio2_000292

Bio2_000772

BPBio1_000015

BRD-K97181089-003-02-3

BRD-K97181089-310-03-0

BSPBio_000013

BSPBio_001572

BSPBio_001826

C06821

C6H8ClN7O

Cahill may roberts brand OF amiloride hydrochloride

CCRIS 6545

CHEBI:2639

CHEMBL945

CID16231

CPD-10324

D07447

DB00594

DivK1c_000182

Douglas brand OF amiloride hydrochloride

EINECS 220-024-7

Guanamprazin

Guanamprazine

HMS1791O14

HMS1989O14

HMS2089H05

Hydrochloride, amiloride

Hydrochloride, anhydrous amiloride

IDI1_000182

IDI1_034042

Kaluril

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

Lopac0_000111

Lopac-A-7410

LS-1094

Merck brand OF amiloride hydrochloride

Merck sharp and dohme brand OF amiloride hydrochloride

Midamor

Midamor (Hydrochloride dihydrate)

Midoride

MK-870 (Hydrochloride dihydrate)

MLS000758249

MLS001060798

Modamide

MolPort-005-934-472

MolPort-005-937-651

N-amidino-3,5-diamino-6-chloropyrazinecarboxamide

N-amidino-3,5-diamino-6-Chloropyrazinecarboxamide

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

Spectrum_000034

Spectrum2_000118

Spectrum3_000293

Spectrum4_000132

Spectrum5_000776

ST079279

Tocris-0890

Trom, amiduret

Trommsdorff brand OF amiloride hydrochloride

UNII-7DZO8EB0Z3

ZINC04340269

Omeprazole

Approved, Investigational, Vet_approved

Phase 1, Phase 2

73590-58-6

4594

Synonyms:

( -)-Omeprazole

(-)-Omeprazole

(S)-(-)-Omeprazole

(S)-Omeprazole

119141-89-8

131959-78-9

172964-80-6

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

2,3,5-Trimethylpyridine/Omeprazole

5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole

5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole

5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-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

AC1L1IIJ

AC-401

AGI-010

AKOS005066653

Antra

Antra mups

Antra MUPS

Audazol

Aulcer

AULCER

Axagon

Belmazol

BIDD:GT0189

Bio-0888

BPBio1_000425

BRD-A55962179-001-04-9

BSPBio_000385

C07324

CAS-73590-58-6

CCRIS 7099

Ceprandal

CHEBI:519601

CHEBI:7772

CHEMBL1503

CID4594

CPD000058847

D00455

Danlox

DB00338

DB00736

Demeprazol

Desec

Dizprazol

DM-3458

Dudencer

Elgam

Emeproton

Emilok

Epirazole

Erbolin

esomeprazol

Esomeprazole

Esomperazole

Esopral

Exter

Gasec

Gastrimut

Gastroloc

Gibancer

H 168/68

H 168-68

H168/68

H-168/68

HMS1528I05

HMS1569D07

HMS2052G17

HMS2090E16

HMS2090F11

HSDB 3575

I06-0705

IDI1_032523

Indurgan

Inhibitron

Inhipump

Lensor

Logastric

Lomac

Losec

Losec, Omesec, Prilosec, Zegerid, Omeprazole

LS-7629

Lucen

Magnesium, omeprazole

Maybridge4_002645

Mepral

Miol

Miracid

MLS000069373

MLS001076112

MLS001424148

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

Ocid

Olexin

Olit

Omapren

Omebeta

Omebeta 20

Omed

Omegast

OMEP

Omepradex

Omepral

Omeprazol

Omeprazol [INN-Spanish]

omeprazole

Omeprazole

Omeprazole (JAN/USP/INN)

Omeprazole [USAN:INN:BAN:JAN]

Omeprazole delayed-release

Omeprazole magnesium

Omeprazole pellets

Omeprazole sodium

Omeprazolum

Omeprazolum [INN-Latin]

Omeprazon

Omeprazone

Omeprol

Omesek

Omez

Omezol

Omezolan

Omid

Omisec

Omizac

OMP

Ompanyt

OMZ

Ortanol

Osiren

Ozoken

Paprazol

Parizac

Pepticum

Pepticus

Peptilcer

Prazentol

Prazidec

Prazolit

Prestwick_808

Prestwick0_000493

Prestwick1_000493

Prestwick2_000493

Prestwick3_000493

Prilosec

Prilosec (TN)

Prilosec otc

Prilosec OTC

Procelac

Proclor

Prysma

Ramezol

Regulacid

Result

S1389_Selleck

SAM001246900

SAN-15

Sanamidol

Secrepina

SMR000058847

Sodium, omeprazole

SPBio_002306

STK623746

Tedec ulceral

Tedec Ulceral

TL8005099

Ulceral

Ulcesep

Ulcometion

Ulcozol

Ulcsep

Ulsen

Ultop

Ulzol

UNII-KG60484QX9

UPCMLD-DP075

UPCMLD-DP075:001

Victrix

Zefxon

Zegerid

Zepral

Zimor

Zoltum

Eplerenone

Approved

Phase 1, Phase 2

107724-20-9

150310 443872

Synonyms:

107724-20-9

7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone

9,11-Epoxy-7-(methoxycarbonyl)-3-oxo-17-pregn-4-ene-21,17-carbolactone

AC1L9FDC

AC-4213

C12512

CGP-30083

CHEBI:31547

CHEBI:726453

CHEMBL1095097

CID443872

D01115

Eplerenon

Eplerenona

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

Indomethacin

Approved, Investigational

Phase 1, Phase 2

53-86-1

3715

Synonyms:

{1-[(4-chlorophenyl)carbonyl]-5-methoxy-2-methyl-1H-indol-3-yl}acetate

{1-[(4-chlorophenyl)carbonyl]-5-methoxy-2-methyl-1H-indol-3-yl}acetic acid

1-(P-Chlorobenzoyl)-5-methoxy-2-methylindole-3-acetate

1-(p-chlorobenzoyl)-5-methoxy-2-methylindole-3-acetic acid

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

AC1L1GJQ

AC-532

Aconip

Aconip (TN)

AKOS000592893

Amuno

Apo-Indomethacin

Argun

Arthrexin

Artracin

Artrinovo

Artrivia

BIDD:GT0132

BIM-0050670.0001

Bio-0704

Bio2_000405

Bio2_000885

Bonidin

Bonidon

Bonidon Gel

BPBio1_000160

BRD-K57222227-001-06-1

BRN 0497341

BSPBio_000144

BSPBio_001149

BSPBio_002176

C01926

CAS-53-86-1

Catlep

CCRIS 3502

CHEBI:49662

CHEMBL6

Chibro-amuno

Chibro-Amuno

Chrono-indicid

Chrono-Indicid

Chrono-indocid

Chrono-Indocid

CID3715

Confortid

CPD-10545

D00141

DB00328

DESMETHYL INDOMETHACIN

DivK1c_000271

Dolcidium

Dolcidium Pl

Dolcidium PL

Dolovin

Durametacin

EINECS 200-186-5

Elmetacin

EU-0100692

Flexin continus

Flexin Continus

Hicin

HMS1362I11

HMS1568H06

HMS1792I11

HMS1920F21

HMS1990I11

HMS2089N19

HMS2091N09

HMS500N13

HSDB 3101

Hydrochloride, indomethacin

I 7378

I0655

I7378_SIGMA

I8280_SIGMA

IDI1_000271

IDI1_002160

Idomethine

Imbrilon

IMN

IN1454

Inacid

Indacin

Indaflex

Indameth

Indmethacine

Indocid

Indocid (pharmaceutical)

Indocid Pda

Indocid Sr

Indocin

Indocin (TN)

Indocin I.V

Indocin I.V.

Indocin Sr

Indolar Sr

Indolar SR

Indo-Lemmon

Indomecol

Indomed

Indomee

Indomet 140

indometacin

Indometacin

Indometacin (JP15/INN)

Indometacina

Indometacina [INN-Spanish]

Indometacine

Indometacine [INN-French]

Indometacinum

Indometacinum [INN-Latin]

Indometacyna

Indometacyna [Polish]

indomethacin

Indomethacin

Indomethacin & MAP-30

Indomethacin (USP)

Indomethacin [USAN:BAN]

Indomethacin hydrochloride

Indomethacin, Indochron E-R, Indocin-SR, Indocid, Indocin, Indomethacin

Indomethacine

Indomethacinum

Indomethancin

Indomethazine

Indomethegan

Indomethine

Indometicina

Indometicina [Spanish]

Indomo

Indomod

Indo-phlogont

Indo-Phlogont

Indoptic

Indoptol

Indo-rectolmin

Indo-Rectolmin

Indorektal

Indo-Spray

Indo-tablinen

Indo-Tablinen

Indoxen

Inflazon

Infrocin

Inteban sp

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

Lausit

Liometacen

Lopac0_000692

Lopac-I-7378

LS-187

LS-82147

Metacen

Metartril

Methazine

Metindol

Mezolin

Miametan

Mikametan

MLS000069402

MLS000758212

MLS001074194

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

nchembio.147-comp11

NCI60_041708

NCI-C56144

NINDS_000271

Novomethacin

Novo-Methacin

Nu-Indo

Oprea1_686105

Osmosin

Prestwick_597

Prestwick0_000272

Prestwick1_000272

Prestwick2_000272

Prestwick3_000272

Reumacide

Rhemacin La

Rhemacin LA

Rheumacin La

Rheumacin LA

S00108

S1723_Selleck

Sadoreum

SMR000058195

SMR000449290

SPBio_000979

SPBio_002363

Spectrum_000919

SPECTRUM1500350

Spectrum2_000970

Spectrum3_000468

Spectrum4_000018

Spectrum5_000868

Tannex

Tocris-1708

UNII-XXE1CET956

UPCMLD-DP023

UPCMLD-DP023:001

USAN

Vonum

diuretics

Phase 1, Phase 2

Sodium Channel Blockers

Phase 1, Phase 2

Diuretics, Potassium Sparing

Phase 1, Phase 2

Hydrochlorothiazide

Approved, Vet_approved

58-93-5

3639

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

Acesistem

Acuilix

Acuretic

adiazine-1,1-dioxide

AF-614/30832002

AKOS000121373

Aldactazide

Aldactazide 25/25

Aldazida

Aldectazide 50/50

Aldoril

Ambap58-93-5

Apo-Hydro

Apresazide

Aquarills

Aquarius

Aquazide H

Aquazide-H

ARONIS24316

BAS 00371709

BIDD:GT0153

Bio-0714

BPBio1_000019

BRD-K13078532-001-05-2

Bremil

Briazide

BRN 0625101

BSPBio_000017

BSPBio_002132

C7H8ClN3O4S2

Caplaril

Capozide

Carozide

CAS-58-93-5

Catiazida

CCRIS 2082

CHEMBL435

Chlorizide

Chlorosulthiadil

Chlorothiazide

Chlorsulfonamidodihydrobenzothiadiazine dioxide

Chlorzide

Chlothia

CID3639

Cidrex

Clorana

component of Aldactazide

component of Aldoril

Component of Butizide Prestabs

component of Caplaril

component of Cyclex

component of Dyazide

component of Esimil

Concor Plus

Condiuren

CPD000035778

D00340

D006852

DB00999

Diaqua

Dichlorosal

Dichlorotride

Dichlothiazide

Dichlotiazid

Dichlotride

diclot ride

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

dro-2H-1,2,4-benzothiadiazine 1,1-dioxide

Dyazide

EINECS 200-403-3

Esidrex

Esidrix

Esidrix (TN)

Esimil

Esoidrina

EU-0100614

Fluvin

FT-0082750

H 4759

H1274

H2910_SIAL

H4759_SIAL

HCT

HCT-Isis

HCTZ

HCZ

Hidril

Hidrochlortiazid

Hidroclorotiazida

Hidroclorotiazida [INN-Spanish]

Hidro-Niagrin

Hidroronol

Hidrosaluretil

Hidrotiazida

HMS1568A19

HMS1920D19

HMS2091L05

HMS500O11

HMS553N04

HSDB 3096

Hyclosid

Hydrex-semi

Hydril

Hydro Par

hydro-Aquil

Hydro-Aquil

Hydro-chlor

Hydrochlorat

hydrochloro Thiazide

Hydrochlorot

Hydrochlorothiazid

hydrochlorothiazide

Hydrochlorothiazide

Hydrochlorothiazide (JP15/USP/INN)

Hydrochlorothiazide [INN:BAN:JAN]

Hydrochlorothiazide intensol

Hydrochlorothiazide Intensol

Hydrochlorothiazidum

Hydrochlorothiazidum [INN-Latin]

Hydrochlorthiazide

Hydrochlorthiazidum

Hydrocot

hydro-D

Hydro-D

Hydrodiuretic

hydro-Diuril

Hydrodiuril

Hydro-Diuril

HydroDIURIL

Hydropres

Hydrosaluric

Hydro-Saluric

Hydro-T

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

Jen-Diril

KBio1_000289

KBio2_001357

KBio2_003925

KBio2_006493

KBio3_001352

KBioGR_000351

KBioSS_001357

Lopac0_000614

Lopac-H-4759

Lopressor HCT

Lotensin Hct

Lotensin HCT

LS-243

Manuril

Maschitt

Maxzide

Maybridge Compound 10

Maybridge1_004336

Mazide 25 mg

Medozide

Megadiuril

Microzide

Microzide (TN)

Mictrin

Mikorten

MLS000069619

Modurcen

Moduretic

MolPort-000-144-465

Natrinax

NCGC00015508-01

NCGC00015508-02

NCGC00015508-03

NCGC00015508-07

NCGC00015508-12

NCGC00021906-03

NCGC00021906-04

NCGC00021906-05

NCGC00021906-06

NCGC00021906-07

NCGC00021906-08

NCI60_004317

NCI-C55925

Nefrix

Nefrol

neo-Codema

Neo-codema

Neo-Codema

Neoflumen

Neo-Flumen

Neo-Minzil

Newtolide

NINDS_000289

Novodiurex

NSC 53477

NSC53477

Oprea1_357174

Oretic

Pantemon

Panurin

panurin dichloride

Prestwick_263

Prestwick0_000009

Prestwick1_000009

Prestwick2_000009

Prestwick3_000009

Prinzide

Raunova Plus

ro-Hydrazide

Ro-hydrazide

Ro-Hydrazide

Roxane

S1708_Selleck

Saldiuril

SAM002554901

Sectrazide

Selozide

Ser-ap-es

Servithiazid

SMR000035778

SPBio_001259

SPBio_001938

Spectrum_000877

SPECTRUM1500335

Spectrum2_001040

Spectrum3_000456

Spectrum4_000006

Spectrum5_000824

Spironazide

STK315354

Su 5879

Tandiur

Thiaretic

Thiuretic

Thlaretic

Timolide

Unazid

UNII-0J48LPH2TH

Unipres

Urodiazin

Urozide

Vaseretic

Vetidrex

WLN: T66 BSWM EM DHJ HG ISZW

Ziac

Zide

ZINC00896569

Sodium Chloride Symporter Inhibitors

Antihypertensive Agents

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	Evaluation of Safety and Efficacity of Indometacin and Two Potassium Sparing Diuretics in Adult Patients Affected by Gitelman Syndrome	Completed	NCT01146197	Phase 1, Phase 2	TREATMENT
3	Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter	Completed	NCT02035046
4	A Translational Approach to Gitelman Syndrome	Completed	NCT00822107		Hydrochlorothiazide

Search NIH Clinical Center for Gitelman Syndrome

Cochrane evidence based reviews: gitelman syndrome

Sources

Genetic Tests for Gitelman Syndrome

Genetic tests related to Gitelman Syndrome:

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

Sources

Anatomical Context for Gitelman Syndrome

MalaCards organs/tissues related to Gitelman Syndrome:

⁴⁰

Kidney, Heart, Skin, Thyroid, Testes, Pancreas, Eye

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

Articles related to Gitelman Syndrome:

(show top 50) (show all 450)

#	Title	Authors	PMID	Year
1	Hypokalemic paralysis due to Gitelman syndrome: a family study. ⁵⁶ ⁶ ⁶¹	Ng HY...Lee CT	17000984	2006
2	Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. ⁵⁶ ⁵⁴ ⁶	Simon DB...Lifton RP	8528245	1996
3	Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. ⁵⁶ ⁶¹	Glaudemans B...Hoefsloot LH	22009145	2012
4	Clinical utility gene card for: Gitelman syndrome. ⁶ ⁶¹	Knoers NV...Kamsteeg EJ	21343949	2011
5	Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome. ⁵⁶ ⁶¹	Yang SS...Lin SH	20848653	2010
6	Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. ⁶¹ ⁵⁶	Jeck N...Seyberth HW	11102542	2000
7	Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. ⁶ ⁵⁴	Takeuchi K...Abe K	8954067	1996
8	Familial hypokalemia-hypomagnesemia or Gitelman's syndrome: a further case. ⁵⁶ ⁶¹	Zarraga Larrondo S...Lampreabe I	1436349	1992
9	Phosphorylation regulates NCC stability and transporter activity in vivo. ⁶	Yang SS...Lin SH	23833262	2013
10	Gitelman syndrome: pathophysiological and clinical aspects. ⁵² ⁶¹	Graziani G...Ponticelli C	20650971	2010
11	Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure. ⁵⁶	Fava C...Melander O	17981812	2008
12	Gitelman's not-so-benign syndrome. ⁵⁶	Pachulski RT...Sharaf R	16120871	2005
13	A case of Gitelman's syndrome with chondrocalcinosis. ⁵⁶	Hisakawa N...Hashimoto K	9700481	1998
14	Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. ⁵⁶	Gamba G...Hebert SC	8021284	1994
15	Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter. ⁵⁶	Gamba G...Hebert SC	8464884	1993
16	Familial hypokalaemia and hypomagnesaemia. A further family. ⁵⁶	Spencer RW...Voyce MA	945655	1976
17	A new familial disorder characterized by hypokalemia and hypomagnesemia. ⁵⁶	Gitelman HJ...Welt LG	5929460	1966
18	Low potassium syndrome due to defective renal tubular mechanisms for handling potassium. ⁵⁶	EARLE DP...CONAN NJ	14877834	1951
19	Gitelman's syndrome with vomiting manifested by severe metabolic alkalosis and progressive renal insufficiency. ⁵²	Lee JH...Han JS	24162365	2013
20	A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome. ⁶¹ ⁵⁴	Nozu K...Matsuo M	19668106	2009
21	Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. ⁶¹ ⁵⁴	Qin L...Chen N	19207868	2009
22	Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data. ⁶¹ ⁵⁴	Joo KW...Han JS	17954289	2007
23	Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. ⁵⁴ ⁶¹	Riveira-Munoz E...Belgian Network for Study of Gitelman Syndrome	17329572	2007
24	A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. ⁵⁴ ⁶¹	Godefroid N...Devuyst O	17059986	2006
25	Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption. ⁶¹ ⁵⁴	Mizumori Y...Kusano E	16854846	2006
26	Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells. ⁶¹ ⁵⁴	Riancho JA...Zarrabeitia MT	16221718	2006
27	A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. ⁶¹ ⁵⁴	Terui K...Suda T	16429844	2006
28	Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found. ⁵⁴ ⁶¹	Urbanova M...Merta M	17159356	2006
29	Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. ⁶¹ ⁵⁴	Ea HK...Roux C	16142886	2005
30	Renal tubular transport and the genetic basis of hypertensive disease. ⁶¹ ⁵⁴	Lang F...Waldegger S	15980941	2005
31	Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. ⁵⁴ ⁶¹	Lin SH...Halperin ML	14750096	2004
32	A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. ⁶¹ ⁵⁴	Coto E...Santos F	14675033	2004
33	[Chondrocalcinosis and hypomagnesaemia in a patient with a new mutation in the gene of the thiazide-sensitive Na-Cl cotransporter]. ⁶¹ ⁵⁴	Garcia Nieto V...Claverie-Martin F	15002785	2003
34	[Gitelman syndrome. An overlooked disease with chronic hypomagnesemia and hypokalemia in adults]. ⁵⁴ ⁶¹	Hansen KW...Mosekilde L	12677988	2003
35	Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. ⁵⁴ ⁶¹	Tajima T...Fujieda K	12008755	2002
36	Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. ⁶¹ ⁵⁴	Shaer AJ	11780689	2001
37	Inherited disorders of renal magnesium handling. ⁶¹ ⁵⁴	Cole DE...Quamme GA	11004227	2000
38	Thiazide-induced vasodilation in humans is mediated by potassium channel activation. ⁶¹ ⁵⁴	Pickkers P...Smits P	9856976	1998
39	Concomitant occurrence of Gitelman and Bartter syndromes in the same family? ⁶¹ ⁵⁴	Turman MA	9502562	1998
40	Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. ⁶¹ ⁵⁴	Lemmink HH...Knoers NV	8865231	1996
41	[The Bartter-like syndrome in 2 twins]. ⁶¹ ⁵⁴	Ruffa G...Milanaccio C	8255271	1993
42	Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency. ⁶¹	Umene R...Nishino T	32506365	2020
43	Clinical and laboratory features of female Gitelman syndrome and the pregnancy outcomes in a Chinese cohort. ⁶¹	Zhang L...Chen L	32542819	2020
44	Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed! ⁶¹	Mantoo MR...Kabra SK	32504456	2020
45	[Clinical and genetic analysis of a patient with Gitelman syndrome misdiagnosed as hypokalemic periodic paralysis]. ⁶¹	Gao M...Liu Y	32472545	2020
46	Systemic lupus erythematosus complicated by a Gitelman-like syndrome in an 8-year-old girl. ⁶¹	Barathidasan GS...Ganesh RN	31853802	2020
47	[A case of Gitelman syndrome with Graves disease as initial diagnosis]. ⁶¹	Peng B...Yuan G	32370469	2020
48	A case to use "salt-losing tubulopathy" instead of "Bartter/Gitelman syndrome". ⁶¹	Miura K...Hattori M	32342650	2020
49	Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene. ⁶¹	Conticini E...Salvarani C	32292023	2020
50	Gitelman syndrome presenting with cerebellar ataxia: a case report. ⁶¹	Gokalp C...Duman S	30756313	2020

Sources

Genes for Gitelman Syndrome

Genes related to Gitelman Syndrome (2 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	1711.49	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	17000984 23833262 8528245 (more) 21343949 8954067 16429844 8954067 14675033 17873326 12008755 8897553 9260778 17511264 10639822 18580052 8865231 17954289 17414160 16008036 12590198 18520105 17654016 17329572 16221718 19668106 16370563 18287808 19207868 10561140 10616841 8528245 11316244 16543691 12584272 20491288 18469313 15206555 14750096 12677988 9690036 19451210 17275579 12686679 10561751 9596079 19420906 19033254 17159356 16854846 15480096 15198479 11004227 20229814 19489442 16142886 12911530 11780689 9502562 19356345 17593691 17059986 16075932 15309683 9856976 11014932 9587066 19016647 16471174 15069170 15980941
2	CLCNKB	Chloride Voltage-Gated Channel Kb	Protein Coding	377.81	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15687331 12911530
3	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	26.55	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15980941 12911530 10546515 (more) 15056980
4	KCNJ1	Potassium Inwardly Rectifying Channel Subfamily J Member 1	Protein Coding	26.14	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15980941 12911530 15056980
5	BSND	Barttin CLCNK Type Accessory Subunit Beta	Protein Coding	24.61	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15980941
6	REN	Renin	Protein Coding	21.07	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	8255271 15002785
7	CASR	Calcium Sensing Receptor	Protein Coding	19.63	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	15056980
8	AGT	Angiotensinogen	Protein Coding	17.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	11316245 19605975 12897089 (more) 15361768
9	PVALB	Parvalbumin	Protein Coding	10.77	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	RGS2	Regulator Of G Protein Signaling 2	Protein Coding	10.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	7.92	DISEASES inferred ¹⁵
12	STK39	Serine/Threonine Kinase 39	Protein Coding	7.9	DISEASES inferred ¹⁵
13	TRPM6	Transient Receptor Potential Cation Channel Subfamily M Member 6	Protein Coding	7.63	DISEASES inferred ¹⁵
14	CLCNKA	Chloride Voltage-Gated Channel Ka	Protein Coding	7.49	DISEASES inferred ¹⁵
15	WNK1	WNK Lysine Deficient Protein Kinase 1	Protein Coding	7.28	DISEASES inferred ¹⁵
16	KCNJ10	Potassium Inwardly Rectifying Channel Subfamily J Member 10	Protein Coding	7.1	DISEASES inferred ¹⁵
17	KLHL3	Kelch Like Family Member 3	Protein Coding	7.03	DISEASES inferred ¹⁵
18	WNK3	WNK Lysine Deficient Protein Kinase 3	Protein Coding	7.03	DISEASES inferred ¹⁵
19	STK24	Serine/Threonine Kinase 24	Protein Coding	6.98	DISEASES inferred ¹⁵
20	CLDN16	Claudin 16	Protein Coding	6.75	DISEASES inferred ¹⁵
21	KCNJ16	Potassium Inwardly Rectifying Channel Subfamily J Member 16	Protein Coding	6.69	DISEASES inferred ¹⁵
22	FXYD2	FXYD Domain Containing Ion Transport Regulator 2	Protein Coding	6.68	DISEASES inferred ¹⁵
23	OXSR1	Oxidative Stress Responsive Kinase 1	Protein Coding	6.45	DISEASES inferred ¹⁵

Sources

Variations for Gitelman Syndrome

ClinVar genetic disease variations for Gitelman Syndrome:

⁶ (show top 50) (show all 232) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SLC12A3	NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	SNV	Pathogenic	397523	rs200697179	16:56919275-56919275	16:56885363-56885363
2	SLC12A3	NM_001126108.2(SLC12A3):c.1276A>T (p.Asn426Tyr)	SNV	Pathogenic	403666	rs200817545	16:56913080-56913080	16:56879168-56879168
3	SLC12A3	NM_001126108.2(SLC12A3):c.1180+1G>T	SNV	Pathogenic	437426	rs749098014	16:56912074-56912074	16:56878162-56878162
4	SLC12A3	NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys)	SNV	Pathogenic	437926	rs373899077	16:56928475-56928475	16:56894563-56894563
5	SLC12A3	NM_001126108.2(SLC12A3):c.506-1G>A	SNV	Pathogenic	448398	rs201555148	16:56903640-56903640	16:56869728-56869728
6	SLC12A3	NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	SNV	Pathogenic	448391	rs775931992	16:56912999-56912999	16:56879087-56879087
7	SLC12A3	NM_001126108.2(SLC12A3):c.283del (p.Gln95fs)	deletion	Pathogenic	448955	rs1555499234	16:56900982-56900982	16:56867070-56867070
8	SLC12A3	NM_001126108.2(SLC12A3):c.2576del (p.Cys859fs)	deletion	Pathogenic	522467	rs1555501632	16:56928497-56928497	16:56894585-56894585
9	SLC12A3	NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	SNV	Pathogenic	586601	rs759377924	16:56913119-56913119	16:56879207-56879207
10	SLC12A3	NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)	SNV	Pathogenic	562347	rs752101663	16:56921849-56921849	16:56887937-56887937
11	SLC12A3	NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg)	SNV	Pathogenic	8585	rs28936387	16:56913065-56913065	16:56879153-56879153
12	SLC12A3	NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp)	SNV	Pathogenic	8586	rs28936388	16:56904031-56904031	16:56870119-56870119
13	SLC12A3	NM_001126108.2(SLC12A3):c.1926-1G>T	SNV	Pathogenic	8587		16:56920275-56920275	16:56886363-56886363
14	SLC12A3	NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu)	SNV	Pathogenic	8589	rs121909380	16:56920314-56920314	16:56886402-56886402
15	SLC12A3	NM_001126108.2(SLC12A3):c.2720+1G>T	SNV	Pathogenic	8590		16:56933529-56933529	16:56899617-56899617
16	SLC12A3	SLC12A3, 3-BP DEL	deletion	Pathogenic	8593
17	SLC12A3	NM_001126108.2(SLC12A3):c.1889G>T (p.Gly630Val)	SNV	Pathogenic	8594	rs121909384	16:56919240-56919240	16:56885328-56885328
18	SLC12A3	NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro)	SNV	Pathogenic	8595	rs121909385	16:56919219-56919219	16:56885307-56885307
19	SLC12A3	SLC12A3, 2-BP DEL, 2881AG	deletion	Pathogenic	8597
20	SLC12A3	NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)	SNV	Pathogenic	101514	rs371443644	16:56899326-56899326	16:56865414-56865414
21	SLC12A3	NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer)	deletion	Pathogenic	279587	rs886041108	16:56913455-56913455	16:56879543-56879543
22	SLC12A3	NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)	SNV	Pathogenic	319909	rs147901432	16:56919276-56919276	16:56885364-56885364
23	SLC12A3	NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	SNV	Pathogenic/Likely pathogenic	319889	rs201255508	16:56899394-56899394	16:56865482-56865482
24	SLC12A3	NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	SNV	Pathogenic/Likely pathogenic	319903	rs374163823	16:56913505-56913505	16:56879593-56879593
25	SLC12A3	NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	SNV	Pathogenic/Likely pathogenic	8584	rs121909379	16:56928470-56928470	16:56894558-56894558
26	SLC12A3	NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)	SNV	Pathogenic/Likely pathogenic	632259	rs145337602	16:56920296-56920296	16:56886384-56886384
27	SLC12A3	NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	SNV	Pathogenic/Likely pathogenic	586605	rs34803727	16:56947189-56947189	16:56913277-56913277
28	SLC12A3	NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	SNV	Pathogenic/Likely pathogenic	417864	rs202114767	16:56938314-56938314	16:56904402-56904402
29	SLC12A3	NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro)	SNV	Likely pathogenic	522471	rs1555499151	16:56899418-56899418	16:56865506-56865506
30	MMP2-AS1		deletion	Likely pathogenic	617534		16:55493443-55496575	16:55459531-55462663
31	SLC12A3	NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	SNV	Likely pathogenic	632258	rs768527231	16:56899395-56899395	16:56865483-56865483
32	SLC12A3	NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro)	SNV	Likely pathogenic	635427		16:56903644-56903644	16:56869732-56869732
33	SLC12A3	NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp)	SNV	Likely pathogenic	635424		16:56913524-56913524	16:56879612-56879612
34	SLC12A3	NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)	SNV	Likely pathogenic	631752	rs374324018	16:56902213-56902213	16:56868301-56868301
35	SLC12A3	NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)	SNV	Likely pathogenic	631753	rs201945662	16:56913508-56913508	16:56879596-56879596
36	SLC12A3	NM_001126108.2(SLC12A3):c.2495A>G (p.Asp832Gly)	SNV	Likely pathogenic	487479	rs1555501437	16:56926940-56926940	16:56893028-56893028
37	SLC12A3	NM_001126108.2(SLC12A3):c.1335+1_1335+6del	deletion	Likely pathogenic	488595	rs759801838	16:56913139-56913144	16:56879227-56879232
38	SLC12A3	NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys)	SNV	Likely pathogenic	813955		16:56899202-56899202	16:56865290-56865290
39	SLC12A3	NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)	SNV	Likely pathogenic	8591	rs121909382	16:56918054-56918054	16:56884142-56884142
40	SLC12A3	NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)	SNV	Likely pathogenic	8592	rs121909383	16:56906649-56906649	16:56872737-56872737
41	SLC12A3	NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)	SNV	Likely pathogenic	209191	rs568513106	16:56904611-56904611	16:56870699-56870699
42	SLC12A3	NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser)	SNV	Likely pathogenic	267286	rs886039754	16:56919270-56919270	16:56885358-56885358
43	SLC12A3	NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)	SNV	Likely pathogenic	319919	rs559626481	16:56938313-56938313	16:56904401-56904401
44	SLC12A3	NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)	SNV	Likely pathogenic	381528	rs13306668	16:56913000-56913000	16:56879088-56879088
45	SLC12A3	NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)	SNV	Conflicting interpretations of pathogenicity	319910	rs150378634	16:56920318-56920318	16:56886406-56886406
46	SLC12A3	NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)	SNV	Conflicting interpretations of pathogenicity	319918	rs13306666	16:56936357-56936357	16:56902445-56902445
47	SLC12A3	NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)	SNV	Conflicting interpretations of pathogenicity	319887	rs117987946	16:56899183-56899183	16:56865271-56865271
48	SLC12A3	NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)	SNV	Conflicting interpretations of pathogenicity	319911	rs201519016	16:56920330-56920330	16:56886418-56886418
49	SLC12A3	NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)	SNV	Conflicting interpretations of pathogenicity	319900	rs34216426	16:56913088-56913088	16:56879176-56879176
50	SLC12A3	NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)	SNV	Conflicting interpretations of pathogenicity	319902	rs142199602	16:56913504-56913504	16:56879592-56879592

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

⁷³ (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	rs138003187
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	rs137551552
44	SLC12A3	p.Ala464Thr	VAR_039507	rs201945662
45	SLC12A3	p.Lys478Glu	VAR_039508	rs135570504
46	SLC12A3	p.Leu542Pro	VAR_039509	rs574357286
47	SLC12A3	p.Ser555Leu	VAR_039510	rs148038173
48	SLC12A3	p.Pro560His	VAR_039511	rs140244480
49	SLC12A3	p.Ala569Glu	VAR_039512	rs79351185
50	SLC12A3	p.Ala569Val	VAR_039513	rs79351185

Copy number variations for Gitelman Syndrome from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	102593	16	55456619	55507263	,deletion	SLC12A3	Gitelman Syndrome
2	102594	16	55456619	55507263	Genomic rearrangement	SLC12A3	Gitelman Syndrome

Sources

Expression for Gitelman Syndrome

Search GEO for disease gene expression data for Gitelman Syndrome.

Sources

Pathways for Gitelman Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁵ Show member pathways Bicarbonate transporters ⁶⁵ Cation-coupled Chloride cotransporters ⁶⁵ Class II GLUTs ⁶⁵ Facilitative Na+-independent glucose transporters ⁶⁵ Inositol transporters ⁶⁵ Multifunctional anion exchangers ⁶⁵ Na+/Cl- dependent neurotransmitter transporters ⁶⁵ Na+-dependent glucose transporters ⁶⁵ Organic anion transport ⁶⁵ Organic anion transporters ⁶⁵ Organic cation transport ⁶⁵ Organic cation/anion/zwitterion transport ⁶⁵ Proton/oligopeptide cotransporters ⁶⁵ Proton-coupled monocarboxylate transport ⁶⁵ Rhesus glycoproteins mediate ammonium transport. ⁶⁵ SLC-mediated transmembrane transport ⁶⁵ Sodium/Calcium exchangers ⁶⁵ Sodium/Proton exchangers ⁶⁵ Sodium-coupled phosphate cotransporters ⁶⁵ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁵ Transmembrane transport of small molecules ⁶⁵ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁵ Type II Na+/Pi cotransporters ⁶⁵	12.94	WNK4 WNK3 WNK1 TRPM6 SLC12A3 SLC12A1
2	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	12	WNK4 WNK3 WNK1 TRPM6 CLCNKB CLCNKA
3	Diuretics Pathway, Pharmacodynamics ⁶⁰	10.78	WNK4 WNK3 WNK1 STK39 SLC12A3 SLC12A1

Sources

GO Terms for Gitelman Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	10.03	TRPM6 SLC12A3 SLC12A1 RGS2 REN KCNJ10
2	membrane	GO:0016020	9.86	WNK4 WNK1 TRPM6 STK39 STK24 SLC12A3
3	cell	GO:0005623	9.85	WNK3 SLC12A3 SLC12A1 CLDN16 CASR AGT
4	bicellular tight junction	GO:0005923	9.5	WNK4 WNK3 CLDN16
5	basolateral plasma membrane	GO:0016323	9.46	STK39 KCNJ10 CASR BSND
6	apical plasma membrane	GO:0016324	9.02	TRPM6 STK39 SLC12A3 SLC12A1 CASR

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

(show all 35)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	10.1	WNK4 WNK3 WNK1 TRPM6 STK39 STK24
2	protein phosphorylation	GO:0006468	10.09	WNK4 WNK3 WNK1 TRPM6 STK39 STK24
3	transmembrane transport	GO:0055085	10.06	TRPM6 SLC12A3 SLC12A1 CLCNKB CLCNKA
4	protein autophosphorylation	GO:0046777	9.92	WNK3 WNK1 STK39 STK24
5	regulation of ion transmembrane transport	GO:0034765	9.91	KCNJ10 KCNJ1 CLCNKB CLCNKA
6	ion transmembrane transport	GO:0034220	9.91	TRPM6 SLC12A1 KCNJ10 KCNJ1 CLCNKB CLCNKA
7	ion transport	GO:0006811	9.85	WNK4 WNK1 TRPM6 SLC12A3 SLC12A1 KCNJ10
8	chloride transport	GO:0006821	9.83	WNK4 CLCNKB CLCNKA BSND
9	activation of protein kinase activity	GO:0032147	9.82	WNK1 STK39 STK24
10	peptidyl-threonine phosphorylation	GO:0018107	9.81	WNK3 WNK1 STK39
11	regulation of blood pressure	GO:0008217	9.8	STK39 REN AGT
12	potassium ion import across plasma membrane	GO:1990573	9.8	SLC12A3 SLC12A1 KCNJ10 KCNJ1
13	chloride transmembrane transport	GO:1902476	9.8	SLC12A3 SLC12A1 CLCNKB CLCNKA CASR BSND
14	cell volume homeostasis	GO:0006884	9.71	WNK3 SLC12A3 SLC12A1
15	excretion	GO:0007588	9.71	KCNJ1 CLDN16 CLCNKB CLCNKA
16	potassium ion homeostasis	GO:0055075	9.69	SLC12A3 SLC12A1 KCNJ10
17	regulation of long-term neuronal synaptic plasticity	GO:0048169	9.67	KCNJ10 AGT
18	vasodilation	GO:0042311	9.66	CASR AGT
19	cellular response to chemokine	GO:1990869	9.65	WNK1 STK39
20	positive regulation of T cell chemotaxis	GO:0010820	9.65	WNK1 STK39
21	sodium ion homeostasis	GO:0055078	9.65	SLC12A3 SLC12A1
22	positive regulation of sodium ion transmembrane transporter activity	GO:2000651	9.65	WNK4 WNK3 WNK1
23	chloride ion homeostasis	GO:0055064	9.64	SLC12A3 SLC12A1
24	positive regulation of potassium ion import	GO:1903288	9.63	WNK4 WNK3 WNK1
25	negative regulation of sodium ion transport	GO:0010766	9.61	WNK4 WNK3 WNK1
26	renal sodium ion absorption	GO:0070294	9.6	WNK4 KLHL3
27	renin-angiotensin regulation of aldosterone production	GO:0002018	9.59	REN AGT
28	signal transduction by trans-phosphorylation	GO:0023016	9.58	WNK1 STK39
29	regulation of blood volume by renin-angiotensin	GO:0002016	9.58	REN AGT
30	regulation of cation transmembrane transport	GO:1904062	9.57	WNK3 WNK1
31	distal tubule morphogenesis	GO:0072156	9.56	WNK4 KLHL3
32	positive regulation of ion transmembrane transporter activity	GO:0032414	9.56	WNK4 WNK3 WNK1 STK39
33	regulation of cellular process	GO:0050794	9.55	WNK4 WNK1
34	negative regulation of pancreatic juice secretion	GO:0090188	9.26	WNK4 WNK3 WNK1 STK39
35	ion homeostasis	GO:0050801	9.02	WNK4 WNK3 WNK1 STK39 KLHL3

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

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	10.14	WNK4 WNK3 WNK1 TRPM6 STK39 STK24
2	ATP binding	GO:0005524	10.01	WNK4 WNK3 WNK1 TRPM6 STK39 STK24
3	protein kinase activity	GO:0004672	9.96	WNK4 WNK3 WNK1 STK39 STK24
4	kinase activity	GO:0016301	9.91	WNK4 WNK3 WNK1 TRPM6 STK39 STK24
5	chloride channel activity	GO:0005254	9.69	CLCNKB CLCNKA BSND
6	voltage-gated ion channel activity	GO:0005244	9.67	KCNJ10 KCNJ1 CLCNKB CLCNKA
7	protein serine/threonine kinase activity	GO:0004674	9.63	WNK4 WNK3 WNK1 TRPM6 STK39 STK24
8	inward rectifier potassium channel activity	GO:0005242	9.57	KCNJ10 KCNJ1
9	voltage-gated chloride channel activity	GO:0005247	9.55	CLCNKB CLCNKA
10	potassium:chloride symporter activity	GO:0015379	9.52	SLC12A3 SLC12A1
11	cation:chloride symporter activity	GO:0015377	9.49	SLC12A3 SLC12A1
12	sodium ion transmembrane transporter activity	GO:0015081	9.48	SLC12A3 SLC12A1
13	ATP-activated inward rectifier potassium channel activity	GO:0015272	9.46	KCNJ10 KCNJ1
14	sodium:chloride symporter activity	GO:0015378	9.32	SLC12A3 SLC12A1
15	sodium:potassium:chloride symporter activity	GO:0008511	9.26	SLC12A3 SLC12A1
16	chloride channel inhibitor activity	GO:0019869	9.13	WNK4 WNK3 WNK1
17	potassium channel inhibitor activity	GO:0019870	8.8	WNK4 WNK3 WNK1

Sources

Sources for Gitelman Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Gitelman Syndrome (GTLMNS)

Aliases & Classifications for Gitelman Syndrome

MalaCards integrated aliases for Gitelman Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Gitelman Syndrome

Related Diseases for Gitelman Syndrome

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

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

Symptoms & Phenotypes for Gitelman Syndrome

Human phenotypes related to Gitelman Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Gitelman Syndrome:

GenomeRNAi Phenotypes related to Gitelman Syndrome according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Gitelman Syndrome:

Drugs & Therapeutics for Gitelman Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: gitelman syndrome

Genetic Tests for Gitelman Syndrome

Genetic tests related to Gitelman Syndrome:

Anatomical Context for Gitelman Syndrome

MalaCards organs/tissues related to Gitelman Syndrome:

Publications for Gitelman Syndrome

Articles related to Gitelman Syndrome:

Genes for Gitelman Syndrome

Genes related to Gitelman Syndrome (2 elite genes):

Variations for Gitelman Syndrome

ClinVar genetic disease variations for Gitelman Syndrome:

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

Copy number variations for Gitelman Syndrome from CNVD:

Expression for Gitelman Syndrome

Pathways for Gitelman Syndrome

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

GO Terms for Gitelman Syndrome

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

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

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

Sources for Gitelman Syndrome