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 70
Bartter Syndrome Type 3 12 20 58 29 6
Classic Bartter Syndrome 12 58 72
Barts3 57 12 72
Bartter Syndrome, Classic 57 54
Bartter Disease Type 3 12 15
Bartter Syndrome Type Iii 58
Syndrome, Bartter, Type 3 39
Bartter Syndrome Classic 20
Adult Bartter Syndrome 58
Bartter Syndrome 3 72

Characteristics:

Orphanet epidemiological data:

58
classic bartter syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age of onset
clinical variation


HPO:

31
bartter syndrome, type 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0110144
OMIM® 57 607364
OMIM Phenotypic Series 57 PS601678
MeSH 44 D001477
ICD10 32 E26.8
ICD10 via Orphanet 33 E26.8
UMLS via Orphanet 71 C1846343
Orphanet 58 ORPHA93605
UMLS 70 C1846343

Summaries for Bartter Syndrome, Type 3

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93605 Definition Classic 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. Epidemiology Exact prevalence of Classic Bartter syndrome is not known. It is by far the most frequent type of Bartter syndrome. Clinical description Classic 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. Etiology Mutation 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 methods Diagnosis 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 diagnosis The differential diagnosis includes pseudo-Bartter syndrome (diuretic abuse, surreptitious vomiting), cystic fibrosis, Gitelman syndrome, and celiac disease (see these terms). Antenatal diagnosis Diagnostic testing of amniocytes might be indicated for mothers of affected children, or potential heterozygous carriers (close relatives of affected individuals). Genetic counseling Inheritance is autosomal recessive. Management and treatment Treatment 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. Prognosis Life 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.

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 bartter syndrome, type 4a, neonatal, with sensorineural deafness, 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 are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.1 CLCNKB CLCNKA
2 bartter syndrome, type 4a, neonatal, with sensorineural deafness 31.6 KCNJ1 CLCNKB BSND
3 bartter syndrome, type 2, antenatal 31.1 SLC12A1 KCNJ1 CASR
4 primary hypomagnesemia 30.7 TRPM6 SLC12A1 KCNJ1 FXYD2 CLDN19 CLDN16
5 bartter syndrome, type 1, antenatal 30.3 SLC12A3 SLC12A1 KCNJ1 CLDN19 CLDN16 CASR
6 apparent mineralocorticoid excess 30.2 REN KCNJ1
7 proteinuria, chronic benign 30.2 REN LOC106501713 CLCNKB
8 conn's syndrome 30.1 SLC12A3 REN CLCNKB
9 antenatal bartter syndrome 29.9 SLC12A1 REN KCNJ1 BSND
10 polyhydramnios 29.8 SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND
11 hypokalemia 29.4 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CASR
12 nephrocalcinosis 28.9 SLC12A3 SLC12A1 KCNJ1 CLDN19 CLDN16 CLCNKB
13 nephrolithiasis 28.7 SLC12A1 KCNJ1 CLDN19 CLDN16 CLCNKB CASR
14 gitelman syndrome 27.6 TRPM6 SLC12A3 SLC12A1 REN KCNJ1 FXYD2
15 bartter disease 27.4 TRPM6 SLC12A3 SLC12A1 REN LOC106501713 KCNJ1
16 mitochondrial dna depletion syndrome 12a 10.3 LOC106501713 CLCNKB
17 epilepsy, familial focal, with variable foci 1 10.3 LOC106501713 CLCNKB
18 orofaciodigital syndrome x 10.2 CLCNKA BSND
19 infantile bartter syndrome with sensorineural deafness 10.2 CLCNKB CLCNKA BSND
20 focal segmental glomerulosclerosis 10.1
21 pseudohyperkalemia, familial, 2, due to red cell leak 10.1 REN KCNJ1
22 tubulointerstitial kidney disease, autosomal dominant, 1 10.1 SLC12A1 REN
23 placenta disease 10.1 SLC12A1 REN KCNJ1
24 myotonia congenita 10.1 CLCNKB CLCNKA
25 diabetes insipidus 10.0 SLC12A1 REN CLCNKB CLCNKA
26 renal tubular acidosis 10.0
27 cystic kidney disease 10.0
28 iga glomerulonephritis 10.0
29 distal renal tubular acidosis 10.0
30 deafness, autosomal recessive 29 10.0 CLDN19 CLDN16
31 constipation 10.0
32 secondary adrenal insufficiency 10.0
33 autoimmune disease 10.0
34 autosomal recessive disease 10.0
35 heart septal defect 10.0
36 atrial heart septal defect 10.0
37 hypoglycemia 10.0
38 growth hormone deficiency 10.0
39 syncope 10.0
40 hypomagnesemia 2, renal 10.0 FXYD2 CLDN16
41 pseudohypoaldosteronism 10.0 SLC12A3 SLC12A1 REN KCNJ1
42 osteoporosis 9.9
43 bone mineral density quantitative trait locus 8 9.9
44 bone mineral density quantitative trait locus 15 9.9
45 kenny-caffey syndrome, type 1 9.9 MT-TI FAM111A
46 pseudohypoaldosteronism, type i, autosomal recessive 9.9 REN KCNJ1
47 hypomagnesemia 1, intestinal 9.9 TRPM6 CLDN19 CLDN16
48 idiopathic hypercalciuria 9.9 REN CASR
49 arthrogryposis, distal, type 3 9.9 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB
50 hypomagnesemia 3, renal 9.8 TRPM6 FXYD2 CLDN16

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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypocalciuria 31 occasional (7.5%) HP:0003127
2 hypotension 31 HP:0002615
3 dehydration 31 HP:0001944
4 hypokalemia 31 HP:0002900
5 abnormal retinal vascular morphology 31 HP:0008046
6 hyperaldosteronism 31 HP:0000859
7 generalized muscle weakness 31 HP:0003324
8 abnormal choroid morphology 31 HP:0000610
9 hypokalemic metabolic alkalosis 31 HP:0001960
10 renal salt wasting 31 HP:0000127
11 increased circulating renin level 31 HP:0000848
12 increased urinary potassium 31 HP:0003081
13 abnormal sclera morphology 31 HP:0000591
14 renal potassium wasting 31 HP:0000128
15 hyperactive renin-angiotensin system 31 HP:0000841
16 polyuria 31 HP:0000103
17 hyperchloriduria 31 HP:0002914
18 impaired reabsorption of chloride 31 HP:0005579

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Bartter Syndrome, Type 3:


generalized muscle weakness; polyuria

MGI Mouse Phenotypes related to Bartter Syndrome, Type 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 BSND CASR CLCNKA CLCNKB CLDN16 CLDN19
2 renal/urinary system MP:0005367 9.28 BSND CASR CLCNKA CLCNKB CLDN16 KCNJ1

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:

40
Retina

Publications for Bartter Syndrome, Type 3

Articles related to Bartter Syndrome, Type 3:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. 57 6
15531551 2004
2
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 57 6
9326936 1997
3
Understanding Bartter syndrome and Gitelman syndrome. 57 61
22282380 2012
4
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
5
Sclerochoroidal calcification in a patient with classic Bartter's syndrome. 57
15734009 2005
6
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. 6
11102542 2000
7
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 6
10906158 2000
8
Biochemical examination of mother's urine is useful for prenatal diagnosis of Bartter syndrome. 57
10419618 1999
9
Genetic disorders of renal electrolyte transport. 57
10202170 1999
10
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 57
8640224 1996
11
Familial hypokalemia/hypomagnesemia and chondrocalcinosis. 57
7983657 1994
12
Case report: familial growth hormone deficiency associated with Bartter's syndrome. 57
1605173 1992
13
A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation. 57
3333163 1987
14
Bartter's syndrome and the atrial natriuretic factor gene. 57
2940182 1986
15
Inheritance of Bartter syndrome. 57
6859127 1983
16
Effect of captopril in Bartter's syndrome. 57
6358925 1983
17
Familial Bartter's syndrome. 57
7082115 1982
18
Bartter's syndrome: physiological and pharmacological studies. 57
6171004 1981
19
Studies on the pathogenesis of Bartter's syndrome. 57
7446558 1980
20
Surreptitious habitual vomiting simulating Bartter's syndrome. 57
7354567 1980
21
Failure to thrive and metabolic alkalosis. Adverse effects of a chloride-deficient formula in two infants. 57
7354566 1980
22
A defect in platelet aggregation in Bartter's syndrome. 57
6243857 1980
23
Effect of indomethacin in two siblings with a renin-dependent hypertension, hyperaldosteronism and hypokalemia. 57
7352042 1980
24
Bartter's syndrome. 57
6994620 1980
25
A short communication. Congenital renal alkalosis. 57
523199 1979
26
A circulating inhibitor of platelet aggregation in Bartter's syndrome. 57
117424 1979
27
Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy. 57
120550 1979
28
Platelet hyporesponsiveness to epinephrine in carriers of Bartter's syndrome. 57
550149 1979
29
Growth characteristics in patients with Bartter's syndrome. 57
220547 1979
30
Bartter's syndrome: a disorder characterized by high urinary prostaglandins and a dependence of hyperreninemia on prostaglandin synthesis. 57
820194 1976
31
Bartter syndrome. Typical facies and normal plasma volume. 57
1190144 1975
32
Gout as a complication of Bartter's syndrome. A possible role for alkalosis in the decreased clearance of uric acid. 57
1147437 1975
33
Bartter's syndrome and erythrocytosis. 57
4356102 1973
34
Bartter's syndrome. An unusual presentation. 57
4693693 1973
35
Bartter's syndrome in blacks. 57
5122903 1971
36
Preponderance of Bartter syndrome among blacks. 57
5560577 1971
37
Case studies of siblings with juxtaglomerular hyperplasia and secondary aldosteronism associated with severe azotemia and renal rickets--Bartter's syndrome or disease? 57
4323412 1970
38
Juxtaglomerular cell hyperplasia and secondary hyperaldosteronism (Bartter's syndrome): a re-evaluation of the pathophysiology. 57
4869871 1968
39
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 57
13969763 1962
40
Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3. 61
31834604 2020
41
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations. 61
32506065 2020
42
Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen. 61
29900164 2018
43
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening. 61
28775266 2017
44
Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research. 61
28598505 2017
45
Clinical and Genetic Spectrum of Bartter Syndrome Type 3. 61
28381550 2017
46
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3. 61
25810436 2015
47
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels. 61
24271511 2014
48
Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency. 61
24965226 2014
49
Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome. 54
19807735 2010
50
Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel. 54
19050915 2009

Variations for Bartter Syndrome, Type 3

ClinVar genetic disease variations for Bartter Syndrome, Type 3:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.1046C>A (p.Ala349Asp) SNV Pathogenic 7594 rs121909134 GRCh37: 1:16377088-16377088
GRCh38: 1:16050593-16050593
2 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His) SNV Pathogenic 7595 rs121909135 GRCh37: 1:16378039-16378039
GRCh38: 1:16051544-16051544
3 CLCNKB CLCNKB, DEL Deletion Pathogenic 7596 GRCh37:
GRCh38:
4 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.1783C>T (p.Arg595Ter) SNV Pathogenic 447098 rs370221310 GRCh37: 1:16381956-16381956
GRCh38: 1:16055461-16055461
5 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.782-2A>G SNV Pathogenic 7597 rs779908241 GRCh37: 1:16376111-16376111
GRCh38: 1:16049616-16049616
6 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1476del (p.Gly493fs) Deletion Pathogenic 638509 rs1159737562 GRCh37: 1:16378759-16378759
GRCh38: 1:16052264-16052264
7 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) SNV Pathogenic 801446 rs1570334344 GRCh37: 1:16375632-16375632
GRCh38: 1:16049137-16049137
8 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) SNV Pathogenic 801447 rs201781905 GRCh37: 1:16375667-16375667
GRCh38: 1:16049172-16049172
9 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) SNV Pathogenic 801448 rs377215024 GRCh37: 1:16376353-16376353
GRCh38: 1:16049858-16049858
10 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.230-1G>C SNV Pathogenic 7600 rs554794449 GRCh37: 1:16373029-16373029
GRCh38: 1:16046534-16046534
11 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu) SNV Pathogenic 7591 rs121909131 GRCh37: 1:16374412-16374412
GRCh38: 1:16047917-16047917
12 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter) SNV Pathogenic 801451 rs1570341086 GRCh37: 1:16378844-16378844
GRCh38: 1:16052349-16052349
13 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) SNV Pathogenic 804713 rs1180658535 GRCh37: 1:16378232-16378232
GRCh38: 1:16051737-16051737
14 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.1381dup (p.Ile461fs) Duplication Pathogenic 369968 rs1057516207 GRCh37: 1:16378287-16378288
GRCh38: 1:16051792-16051793
15 CLCNKB NM_000085.4(CLCNKB):c.18dup (p.Leu7fs) Duplication Pathogenic 585704 rs953686324 GRCh37: 1:16371001-16371002
GRCh38: 1:16044506-16044507
16 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.656-31del Deletion Pathogenic 638508 rs751608665 GRCh37: 1:16375584-16375584
GRCh38: 1:16049089-16049089
17 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) Deletion Pathogenic 930786 GRCh37: 1:16378296-16378296
GRCh38: 1:16051801-16051801
18 overlap with 2 genes GRCh37/hg19 1p36.13(chr1:16372179-16388605) copy number loss Pathogenic 915980 GRCh37: 1:16372179-16388605
GRCh38:
19 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.1830G>A (p.Trp610Ter) SNV Pathogenic 7599 rs121909136 GRCh37: 1:16382003-16382003
GRCh38: 1:16055508-16055508
20 CLCNKB NM_000085.5:c.(?_-1)_(*1_?)del Deletion Pathogenic 974551 GRCh37:
GRCh38:
21 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) SNV Pathogenic 801449 rs755714542 GRCh37: 1:16378216-16378216
GRCh38: 1:16051721-16051721
22 CLCNKB NM_000085.5(CLCNKB):c.88C>T (p.Arg30Ter) SNV Pathogenic 1034050 GRCh37: 1:16371075-16371075
GRCh38: 1:16044580-16044580
23 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.610G>A SNV Pathogenic/Likely pathogenic 7592 rs121909132 GRCh37: 1:16375032-16375032
GRCh38: 1:16048537-16048537
24 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1270G>A (p.Gly424Arg) SNV Likely pathogenic 974420 GRCh37: 1:16378015-16378015
GRCh38: 1:16051520-16051520
25 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) Duplication Likely pathogenic 523321 rs779593707 GRCh37: 1:16376379-16376380
GRCh38: 1:16049884-16049885
26 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.1897del (p.Thr632_Leu633insTer) Deletion Likely pathogenic 216904 rs863224858 GRCh37: 1:16382219-16382219
GRCh38: 1:16055724-16055724
27 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) SNV Likely pathogenic 801450 rs1570340095 GRCh37: 1:16378307-16378307
GRCh38: 1:16051812-16051812
28 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) SNV Uncertain significance 7593 rs121909133 GRCh37: 1:16378219-16378219
GRCh38: 1:16051724-16051724
29 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) SNV Uncertain significance 801449 rs755714542 GRCh37: 1:16378216-16378216
GRCh38: 1:16051721-16051721
30 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1006G>A (p.Ala336Thr) SNV Uncertain significance 992446 GRCh37: 1:16377048-16377048
GRCh38: 1:16050553-16050553
31 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.700T>C (p.Trp234Arg) SNV Uncertain significance 523320 rs144517772 GRCh37: 1:16375659-16375659
GRCh38: 1:16049164-16049164
32 CLCNKA NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) SNV Uncertain significance 587598 rs202069201 GRCh37: 1:16349169-16349169
GRCh38: 1:16022674-16022674
33 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg) SNV Uncertain significance 930785 GRCh37: 1:16373036-16373036
GRCh38: 1:16046541-16046541
34 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) SNV Benign 930947 GRCh37: 1:16380240-16380240
GRCh38: 1:16053745-16053745
35 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.641C>G (p.Ala214Gly) SNV Benign 504916 rs1889789 GRCh37: 1:16375063-16375063
GRCh38: 1:16048568-16048568

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

72
# 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

GO Terms for Bartter Syndrome, Type 3

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.07 TRPM6 SLC12A3 SLC12A1 REN KCNJ1 FXYD2
2 integral component of plasma membrane GO:0005887 9.8 TRPM6 SLC12A3 CLCNKB CLCNKA CASR BSND
3 integral component of membrane GO:0016021 9.73 TRPM6 SLC12A3 SLC12A1 KCNJ1 FXYD2 CLDN19
4 apical plasma membrane GO:0016324 9.46 TRPM6 SLC12A3 SLC12A1 CASR
5 plasma membrane GO:0005886 9.4 TRPM6 SLC12A3 SLC12A1 REN KCNJ1 FXYD2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 TRPM6 SLC12A3 SLC12A1 FXYD2 CLCNKB CLCNKA
2 ion transport GO:0006811 9.76 TRPM6 SLC12A3 SLC12A1 KCNJ1 FXYD2 CLDN16
3 regulation of ion transmembrane transport GO:0034765 9.72 KCNJ1 CLCNKB CLCNKA
4 potassium ion transport GO:0006813 9.71 SLC12A1 KCNJ1 FXYD2
5 sodium ion transport GO:0006814 9.69 SLC12A3 SLC12A1 FXYD2
6 potassium ion import across plasma membrane GO:1990573 9.62 SLC12A3 SLC12A1 KCNJ1 FXYD2
7 chloride transport GO:0006821 9.58 CLCNKB CLCNKA BSND
8 excretion GO:0007588 9.56 KCNJ1 CLDN16 CLCNKB CLCNKA
9 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.52 CLDN19 CLDN16
10 ion transmembrane transport GO:0034220 9.5 TRPM6 SLC12A1 KCNJ1 FXYD2 CLCNKB CLCNKA
11 cell volume homeostasis GO:0006884 9.49 SLC12A3 SLC12A1
12 sodium ion homeostasis GO:0055078 9.48 SLC12A3 SLC12A1
13 potassium ion homeostasis GO:0055075 9.46 SLC12A3 SLC12A1
14 chloride ion homeostasis GO:0055064 9.43 SLC12A3 SLC12A1
15 chloride transmembrane transport GO:1902476 9.1 SLC12A3 SLC12A1 CLCNKB CLCNKA CASR BSND

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.54 KCNJ1 CLCNKB CLCNKA
2 voltage-gated chloride channel activity GO:0005247 9.32 CLCNKB CLCNKA
3 potassium:chloride symporter activity GO:0015379 9.26 SLC12A3 SLC12A1
4 cation:chloride symporter activity GO:0015377 9.16 SLC12A3 SLC12A1
5 chloride channel activity GO:0005254 9.13 CLCNKB CLCNKA BSND
6 sodium:potassium:chloride symporter activity GO:0008511 8.62 SLC12A3 SLC12A1

Sources for Bartter Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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