BARTS3
MCID: BRT042
MIFTS: 46

Bartter Syndrome, Type 3 (BARTS3)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Bartter Syndrome, Type 3

MalaCards integrated aliases for Bartter Syndrome, Type 3:

Name: Bartter Syndrome, Type 3 57 13 40 72
Bartter Syndrome Type 3 12 53 59 29 6
Classic Bartter Syndrome 12 59 74
Barts3 57 12 74
Bartter Syndrome, Classic 57 55
Bartter Disease Type 3 12 15
Bartter Syndrome Type Iii 59
Bartter Syndrome Classic 53
Adult Bartter Syndrome 59
Bartter Syndrome 3 74

Characteristics:

Orphanet epidemiological data:

59
classic bartter syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable age of onset
clinical variation


HPO:

32
bartter syndrome, type 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0110144
MeSH 44 D001477
ICD10 33 E26.8
ICD10 via Orphanet 34 E26.8
UMLS via Orphanet 73 C1846343
Orphanet 59 ORPHA93605
UMLS 72 C1846343

Summaries for Bartter Syndrome, Type 3

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93605DefinitionClassic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.EpidemiologyExact prevalence of Classic Bartter syndrome is not known. It is by far the most frequent type of Bartter syndrome.Clinical descriptionClassic Bartter syndrome is characterized by a milder clinical picture with a wide phenotypic heterogeneity when compared to other subtypes of Bartter syndrome. Only one third of the patients present with maternal polyhydramnios which usually does not lead to prematurity. Patients usually present after neonatal period with failure to thrive, fatigue, muscle weakness, cramps and carpopedal spasms. Hypokalemia and alkalosis are common. Polyuria and hypostenuria/isosthenuria are variable, as is hypercalciuria. Few patients develop medullary nephrocalcinosis.EtiologyMutation in CLCNKB gene (1p36), encoding a basolateral chloride channel ClCKb, has been identified as the most frequent cause of classic Bartter syndrome. Both the chloride channels, ClCKa and ClCKb are expressed in thick ascending limb of the loop of Henle (TALH), ClCKa is exclusively expressed in the ascending limb, while ClCKb is also expressed in distal convoluted tubule (DCT), thereby explaining the pronounced DCT features (similar to Gitelman syndrome; see this term) in some patients with CLCNKB mutations. CLCNKB mutations define classic Bartter syndrome; however, genes other than CLCNKB (those that are usually associated with other types of Bartter syndrome) may less commonly cause the classic, less severe phenotype, such as SLC12A1 and KCNJ1. Rarely, patients with BSND mutation may show a mild phenotype of salt loss associated with deafness.Diagnostic methodsDiagnosis is based on the clinical picture, plasma and urine electrolytes (sodium, potassium, chloride, bicarbonate, magnesium, calcium), renin and aldosterone levels. Calcium levels in the urine may be normal or slightly increased. Genetic testing provides the definite diagnosis.Differential diagnosisThe differential diagnosis includes pseudo-Bartter syndrome (diuretic abuse, surreptitious vomiting), cystic fibrosis, Gitelman syndrome, and celiac disease (see these terms).Antenatal diagnosisDiagnostic testing of amniocytes might be indicated for mothers of affected children, or potential heterozygous carriers (close relatives of affected individuals).Genetic counselingInheritance is autosomal recessive.Management and treatmentTreatment includes oral potassium supplements, non-steroidal anti-inflammatory drugs (e.g. indometacin) and possibly potassium-sparing diuretics. In stressful situations (additional diseases, surgical procedures, trauma) blood electrolyte levels may change rapidly, requiring prompt and vigorous treatment.PrognosisLife expectancy may be reduced in severe cases but renal failure is rare. Quality of life may be poor, growth rate reduced, and medicalization/hospitalization rate high.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bartter Syndrome, Type 3, also known as bartter syndrome type 3, is related to bartter syndrome, type 4b, neonatal, with sensorineural deafness and polyhydramnios, and has symptoms including generalized muscle weakness and polyuria. An important gene associated with Bartter Syndrome, Type 3 is CLCNKB (Chloride Voltage-Gated Channel Kb), and among its related pathways/superpathways is Diuretics Pathway, Pharmacodynamics. Affiliated tissues include testes, kidney and retina, and related phenotypes are hypocalciuria and hypotension

Disease Ontology : 12 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.

OMIM : 57 Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). (607364)

UniProtKB/Swiss-Prot : 74 Bartter syndrome 3: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria.

Related Diseases for Bartter Syndrome, Type 3

Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome Type 4

Diseases related to Bartter Syndrome, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 42, show less)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.7 CLCNKB CLCNKA
2 polyhydramnios 30.3 SLC12A1 KCNJ1 CLCNKB
3 nephrocalcinosis 30.2 SLC12A3 SLC12A1 KCNJ1 CLCNKB
4 antenatal bartter syndrome 29.8 SLC12A1 REN KCNJ1 BSND
5 hypokalemia 29.5 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB BSND
6 bartter disease 29.4 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CLCNKA
7 gitelman syndrome 29.2 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB BSND
8 primary hypomagnesemia 11.3
9 bartter syndrome, type 2, antenatal 11.2
10 bartter syndrome, type 1, antenatal 11.2
11 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.2
12 deafness, autosomal recessive 96 10.5 CLCNKB CLCNKA
13 autosomal recessive nonsyndromic deafness 36 10.4 CLCNKB CLCNKA
14 dent disease 1 10.4 CLCNKB CLCNKA
15 arthrogryposis, distal, type 3 10.3 SLC12A3 REN
16 infantile bartter syndrome with sensorineural deafness 10.3 CLCNKB CLCNKA BSND
17 renal hypertension 10.2 SLC12A3 REN
18 diabetes insipidus 10.2 SLC12A1 REN CLCNKA
19 pseudohypoaldosteronism 10.2 SLC12A3 REN KCNJ1
20 conn's syndrome 10.1
21 pseudohyperkalemia, familial, 2, due to red cell leak 10.1 REN KCNJ1
22 mineral metabolism disease 10.0 SLC12A3 REN KCNJ1 CLCNKB
23 apparent mineralocorticoid excess 10.0
24 renal tubular acidosis 10.0
25 cystic kidney disease 10.0
26 iga glomerulonephritis 10.0
27 distal renal tubular acidosis 10.0
28 nephrolithiasis, calcium oxalate 10.0
29 secondary adrenal insufficiency 10.0
30 autoimmune disease 10.0
31 autosomal recessive disease 10.0
32 focal segmental glomerulosclerosis 10.0
33 heart septal defect 10.0
34 atrial heart septal defect 10.0
35 chronic kidney disease 10.0
36 hypoglycemia 10.0
37 growth hormone deficiency 10.0
38 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.0 SLC12A3 KCNJ1
39 osteoporosis 9.9
40 bone mineral density quantitative trait locus 8 9.9
41 bone mineral density quantitative trait locus 15 9.9
42 renal tubular transport disease 9.3 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CLCNKA

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 3:



Diseases related to Bartter Syndrome, Type 3

Symptoms & Phenotypes for Bartter Syndrome, Type 3

Human phenotypes related to Bartter Syndrome, Type 3:

32 (showing 18, show less)
# Description HPO Frequency HPO Source Accession
1 hypocalciuria 32 occasional (7.5%) HP:0003127
2 hypotension 32 HP:0002615
3 dehydration 32 HP:0001944
4 hypokalemia 32 HP:0002900
5 generalized muscle weakness 32 HP:0003324
6 hyperaldosteronism 32 HP:0000859
7 renal salt wasting 32 HP:0000127
8 increased circulating renin level 32 HP:0000848
9 renal potassium wasting 32 HP:0000128
10 abnormal sclera morphology 32 HP:0000591
11 increased urinary potassium 32 HP:0003081
12 hypokalemic metabolic alkalosis 32 HP:0001960
13 polyuria 32 HP:0000103
14 abnormal choroid morphology 32 HP:0000610
15 hyperactive renin-angiotensin system 32 HP:0000841
16 hyperchloriduria 32 HP:0002914
17 abnormal retinal vascular morphology 32 HP:0008046
18 impaired reabsorption of chloride 32 HP:0005579

Symptoms via clinical synopsis from OMIM:

57
Metabolic Features:
dehydration
hypokalemic metabolic alkalosis

Muscle Soft Tissue:
generalized muscle weakness

Endocrine Features:
hyperactive renin-angiotensin system
increased plasma renin
increased plasma aldosterone

Head And Neck Eyes:
multifocal yellow-white geographic, solid, choroidal lesions along the retinal vascular arcades
b-scan ultrasound shows echogenic, placoid calcified lesions at the level of the sclera and choroid
optical coherence tomography shows normal retina and retinal pigment epithelium overlying the sclerochoroidal lesions

Laboratory Abnormalities:
hypokalemia
increased urinary potassium
increased serum bicarbonate
increased urinary chloride
hypocalciuria or normocalciuria

Genitourinary Kidneys:
renal salt wasting
renal potassium wasting
polyuria
impaired reabsorption of chloride
nephrocalcinosis is absent

Cardiovascular Vascular:
low blood pressure

Clinical features from OMIM:

607364

UMLS symptoms related to Bartter Syndrome, Type 3:


generalized muscle weakness, polyuria

MGI Mouse Phenotypes related to Bartter Syndrome, Type 3:

46 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 BSND CBSL CLCNKA KCNJ1 PTGES REN
2 hematopoietic system MP:0005397 9.91 BSND CBSL IMPDH1 KCNJ1 PTGES REN
3 homeostasis/metabolism MP:0005376 9.85 BSND CBSL CLCNKA CLCNKB KCNJ1 PTGES
4 mortality/aging MP:0010768 9.65 BSND CBSL CLCNKA DDX41 KCNJ1 PDXK
5 renal/urinary system MP:0005367 9.28 BSND CBSL CLCNKA CLCNKB KCNJ1 REN

Drugs & Therapeutics for Bartter Syndrome, Type 3

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome, Type 3

Genetic Tests for Bartter Syndrome, Type 3

Genetic tests related to Bartter Syndrome, Type 3:

# Genetic test Affiliating Genes
1 Bartter Syndrome Type 3 29 CLCNKB

Anatomical Context for Bartter Syndrome, Type 3

MalaCards organs/tissues related to Bartter Syndrome, Type 3:

41
Testes, Kidney, Retina

Publications for Bartter Syndrome, Type 3

Articles related to Bartter Syndrome, Type 3:

(showing 54, show less)
# Title Authors PMID Year
1
Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. 8 71
15531551 2004
2
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 8 71
9326936 1997
3
Understanding Bartter syndrome and Gitelman syndrome. 38 8
22282380 2012
4
Sclerochoroidal calcification in a patient with classic Bartter's syndrome. 8
15734009 2005
5
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. 71
11102542 2000
6
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 71
10906158 2000
7
Biochemical examination of mother's urine is useful for prenatal diagnosis of Bartter syndrome. 8
10419618 1999
8
Genetic disorders of renal electrolyte transport. 8
10202170 1999
9
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 8
8640224 1996
10
Familial hypokalemia/hypomagnesemia and chondrocalcinosis. 8
7983657 1994
11
Case report: familial growth hormone deficiency associated with Bartter's syndrome. 8
1605173 1992
12
A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation. 8
3333163 1987
13
Bartter's syndrome and the atrial natriuretic factor gene. 8
2940182 1986
14
Inheritance of Bartter syndrome. 8
6859127 1983
15
Effect of captopril in Bartter's syndrome. 8
6358925 1983
16
Familial Bartter's syndrome. 8
7082115 1982
17
Bartter's syndrome: physiological and pharmacological studies. 8
6171004 1981
18
Studies on the pathogenesis of Bartter's syndrome. 8
7446558 1980
19
Failure to thrive and metabolic alkalosis. Adverse effects of a chloride-deficient formula in two infants. 8
7354566 1980
20
Surreptitious habitual vomiting simulating Bartter's syndrome. 8
7354567 1980
21
A defect in platelet aggregation in Bartter's syndrome. 8
6243857 1980
22
Bartter's syndrome. 8
6994620 1980
23
Effect of indomethacin in two siblings with a renin-dependent hypertension, hyperaldosteronism and hypokalemia. 8
7352042 1980
24
A short communication. Congenital renal alkalosis. 8
523199 1979
25
Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy. 8
120550 1979
26
Platelet hyporesponsiveness to epinephrine in carriers of Bartter's syndrome. 8
550149 1979
27
Growth characteristics in patients with Bartter's syndrome. 8
220547 1979
28
Bartter's syndrome: a disorder characterized by high urinary prostaglandins and a dependence of hyperreninemia on prostaglandin synthesis. 8
820194 1976
29
Bartter syndrome. Typical facies and normal plasma volume. 8
1190144 1975
30
Gout as a complication of Bartter's syndrome. A possible role for alkalosis in the decreased clearance of uric acid. 8
1147437 1975
31
Bartter's syndrome and erythrocytosis. 8
4356102 1973
32
Bartter's syndrome. An unusual presentation. 8
4693693 1973
33
Bartter's syndrome in blacks. 8
5122903 1971
34
Preponderance of Bartter syndrome among blacks. 8
5560577 1971
35
Case studies of siblings with juxtaglomerular hyperplasia and secondary aldosteronism associated with severe azotemia and renal rickets--Bartter's syndrome or disease? 8
4323412 1970
36
Juxtaglomerular cell hyperplasia and secondary hyperaldosteronism (Bartter's syndrome): a re-evaluation of the pathophysiology. 8
4869871 1968
37
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 8
13969763 1962
38
Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen. 38
29900164 2018
39
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening. 38
28775266 2017
40
Clinical and Genetic Spectrum of Bartter Syndrome Type 3. 38
28381550 2017
41
Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research. 38
28598505 2017
42
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3. 38
25810436 2015
43
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels. 38
24271511 2014
44
Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency. 38
24965226 2014
45
Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome. 9
19807735 2010
46
Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel. 9
19050915 2009
47
Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome. 9
16902263 2006
48
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age. 9
16391491 2006
49
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome. 9
16306206 2005
50
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. 9
15875219 2005
51
Induction of microsomal prostaglandin E2 synthase in the macula densa in children with hypokalemic salt-losing tubulopathies. 9
14630996 2004
52
Bartter's and Gitelman's syndromes: from gene to clinic. 9
15056980 2004
53
Bartter syndrome type 3: an unusual cause of nephrolithiasis. 38
11865110 2002
54
Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. 9
11780689 2001

Variations for Bartter Syndrome, Type 3

ClinVar genetic disease variations for Bartter Syndrome, Type 3:

6 (showing 14, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLCNKB CLCNKB, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
2 CLCNKB CLCNKB, DEL deletion Pathogenic
3 CLCNKB NM_000085.4(CLCNKB): c.371C> T (p.Pro124Leu) single nucleotide variant Pathogenic rs121909131 1:16374412-16374412 1:16047917-16047917
4 CLCNKB NM_000085.4(CLCNKB): c.610G> A (p.Ala204Thr) single nucleotide variant Pathogenic rs121909132 1:16375032-16375032 1:16048537-16048537
5 CLCNKB NM_000085.4(CLCNKB): c.1046C> A (p.Ala349Asp) single nucleotide variant Pathogenic rs121909134 1:16377088-16377088 1:16050593-16050593
6 CLCNKB NM_000085.4(CLCNKB): c.1294T> C (p.Tyr432His) single nucleotide variant Pathogenic rs121909135 1:16378039-16378039 1:16051544-16051544
7 CLCNKB CLCNKB, DEL deletion Pathogenic
8 CLCNKB NM_000085.4(CLCNKB): c.18dup (p.Leu7fs) duplication Pathogenic 1:16371005-16371005 1:16044510-16044510
9 CLCNKB NM_000085.4(CLCNKB): c.656-31del deletion Pathogenic 1:16375584-16375584 1:16049089-16049089
10 CLCNKB NM_000085.4(CLCNKB): c.1476del (p.Gly493fs) deletion Pathogenic 1:16378760-16378760 1:16052265-16052265
11 CLCNKB NM_000085.4(CLCNKB): c.1381dup (p.Ile461fs) duplication Pathogenic rs1057516207 1:16378288-16378288 1:16051793-16051793
12 CLCNKB NM_000085.4(CLCNKB): c.1897del (p.Thr632_Leu633insTer) deletion Likely pathogenic rs863224858 1:16382221-16382221 1:16055726-16055726
13 CLCNKB NM_000085.4(CLCNKB): c.1312C> T (p.Arg438Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121909133 1:16378219-16378219 1:16051724-16051724
14 CLCNKA NM_004070.4(CLCNKA): c.55C> T (p.Gln19Ter) single nucleotide variant Uncertain significance 1:16349169-16349169 1:16022674-16022674

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 3:

74 (showing 5, show less)
# Symbol AA change Variation ID SNP ID
1 CLCNKB p.Pro124Leu VAR_001624 rs121909131
2 CLCNKB p.Ala204Thr VAR_001625 rs121909132
3 CLCNKB p.Ala349Asp VAR_001626 rs121909134
4 CLCNKB p.Tyr432His VAR_001627 rs121909135
5 CLCNKB p.Arg438Cys VAR_001628 rs121909133

Expression for Bartter Syndrome, Type 3

Search GEO for disease gene expression data for Bartter Syndrome, Type 3.

Pathways for Bartter Syndrome, Type 3

Pathways related to Bartter Syndrome, Type 3 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 10.56 SLC12A3 SLC12A1 KCNJ1 CLCNKB CLCNKA BSND

GO Terms for Bartter Syndrome, Type 3

Cellular components related to Bartter Syndrome, Type 3 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.8 PDXK IMPDH2 IMPDH1

Biological processes related to Bartter Syndrome, Type 3 according to GeneCards Suite gene sharing:

(showing 17, show less)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 SLC12A3 SLC12A1 KCNJ1 CLCNKB CLCNKA
2 transmembrane transport GO:0055085 9.87 SLC12A3 SLC12A1 CLCNKB CLCNKA
3 regulation of ion transmembrane transport GO:0034765 9.72 KCNJ1 CLCNKB CLCNKA
4 chloride transport GO:0006821 9.58 CLCNKB CLCNKA BSND
5 positive regulation of type I interferon production GO:0032481 9.56 TBK1 DDX41
6 cell volume homeostasis GO:0006884 9.54 SLC12A3 SLC12A1
7 purine nucleotide biosynthetic process GO:0006164 9.52 IMPDH2 IMPDH1
8 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.51 IMPDH2 IMPDH1
9 potassium ion import across plasma membrane GO:1990573 9.5 SLC12A3 SLC12A1 KCNJ1
10 potassium ion homeostasis GO:0055075 9.49 SLC12A3 SLC12A1
11 GTP biosynthetic process GO:0006183 9.46 IMPDH2 IMPDH1
12 chloride ion homeostasis GO:0055064 9.43 SLC12A3 SLC12A1
13 lymphocyte proliferation GO:0046651 9.37 IMPDH2 IMPDH1
14 ion transmembrane transport GO:0034220 9.35 SLC12A1 KCNJ1 CLCNKB CLCNKA BSND
15 excretion GO:0007588 9.33 KCNJ1 CLCNKB CLCNKA
16 GMP biosynthetic process GO:0006177 9.26 IMPDH2 IMPDH1
17 chloride transmembrane transport GO:1902476 9.02 SLC12A3 SLC12A1 CLCNKB CLCNKA BSND

Molecular functions related to Bartter Syndrome, Type 3 according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.54 CLCNKB CLCNKA BSND
2 potassium:chloride symporter activity GO:0015379 9.43 SLC12A3 SLC12A1
3 cation:chloride symporter activity GO:0015377 9.4 SLC12A3 SLC12A1
4 sodium ion transmembrane transporter activity GO:0015081 9.32 SLC12A3 SLC12A1
5 sodium:potassium:chloride symporter activity GO:0008511 9.26 SLC12A3 SLC12A1
6 sodium:chloride symporter activity GO:0015378 9.16 SLC12A3 SLC12A1
7 IMP dehydrogenase activity GO:0003938 8.96 IMPDH2 IMPDH1
8 voltage-gated chloride channel activity GO:0005247 8.62 CLCNKB CLCNKA

Sources for Bartter Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....