MCID: BRT024
MIFTS: 19

Bartter Syndrome Type 4

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

Aliases & Classifications for Bartter Syndrome Type 4

MalaCards integrated aliases for Bartter Syndrome Type 4:

Name: Bartter Syndrome Type 4 53 29 6 73
Bartter Syndrome with Sensorineural Deafness 53
Bartter Syndrome, Type 4a 73
Bsnd 53

Classifications:



External Ids:

Summaries for Bartter Syndrome Type 4

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 89938Disease definitionInfantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.EpidemiologyIt is the least common of all recessive types of Bartter syndrome.Clinical descriptionInfantile Bartter syndrome with deafness is a severe type of Bartter syndrome manifesting prenatally with maternal polyhydramnios (due to fetal polyuria) usually evident by the end of 2nd trimester, often leading to preterm labour and prematurity. Postnatally patients present with polyuria, isosthenuria/hyposthenuria and are at high risk of dehydration, hypovolemic hypotension and shock. Patients are found to have complete sensorineural deafness. Recurrent vomiting, muscle cramps, spasms and failure to thrive are observed. Progression to renal failure is frequent. Hypokalemic alkalosis, hypomagnesemia, hyperprostaglandin E-uria and hypochloremia are noted (hypercalciuria is only transient).EtiologyInfantile Bartter syndrome with deafness is caused by a defect in chloride transport in thick ascending loop of Henle and distal convoluted tubule as a consequence of inactivating mutations of the geneBSND (1p32.3) encoding for the protein Barttin (Bartter syndrome type 4A), required for the location and proper function of the voltage sensitive, Ka and Kb chloride channels of the basolateral membrane, (ClCKa and ClCKb). In addition to mutations of Barttin, infantile Bartter syndrome with deafness may be caused by digeneic (CLCKA and CLCKB 1p36) mutations inactivating all the 4 alleles of the 2 genes (or Bartter syndrome type 4B). CLCKa is highly expressed in the inner ear and contributes to maintain the high potassium ion concentration in the endolymph necessary for normal hearing, disruption of the function of which thus leads to nerve deafness.Genetic counselingThe disease is transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bartter Syndrome Type 4, also known as bartter syndrome with sensorineural deafness, is related to bartter syndrome, type 4a, neonatal, with sensorineural deafness and bartter syndrome, type 3, and has symptoms including polyuria An important gene associated with Bartter Syndrome Type 4 is BSND (Barttin CLCNK Type Accessory Beta Subunit). Affiliated tissues include kidney.

Related Diseases for Bartter Syndrome Type 4

Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome Type 4

Diseases related to Bartter Syndrome Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4a, neonatal, with sensorineural deafness 12.1
2 bartter syndrome, type 3 11.6
3 nonsyndromic deafness 11.3
4 antenatal bartter syndrome 11.3
5 infantile bartter syndrome with sensorineural deafness 11.3

Graphical network of the top 20 diseases related to Bartter Syndrome Type 4:



Diseases related to Bartter Syndrome Type 4

Symptoms & Phenotypes for Bartter Syndrome Type 4

UMLS symptoms related to Bartter Syndrome Type 4:


polyuria

Drugs & Therapeutics for Bartter Syndrome Type 4

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome Type 4

Genetic Tests for Bartter Syndrome Type 4

Genetic tests related to Bartter Syndrome Type 4:

# Genetic test Affiliating Genes
1 Bartter Syndrome Type 4 29 BSND

Anatomical Context for Bartter Syndrome Type 4

MalaCards organs/tissues related to Bartter Syndrome Type 4:

41
Kidney

Publications for Bartter Syndrome Type 4

Articles related to Bartter Syndrome Type 4:

# Title Authors Year
1
A case of antenatal Bartter syndrome with sensorineural deafness. ( 21158220 )
2010
2
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. ( 18310267 )
2008
3
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. ( 16773427 )
2006
4
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. ( 12574213 )
2003
5
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. ( 11687798 )
2001

Variations for Bartter Syndrome Type 4

ClinVar genetic disease variations for Bartter Syndrome Type 4:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSND NM_057176.2(BSND): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs74315286 GRCh37 Chromosome 1, 55464862: 55464862
2 BSND NM_057176.2(BSND): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs74315286 GRCh38 Chromosome 1, 54999189: 54999189
3 BSND NM_057176.2(BSND): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs74315284 GRCh37 Chromosome 1, 55464860: 55464860
4 BSND NM_057176.2(BSND): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs74315284 GRCh38 Chromosome 1, 54999187: 54999187
5 BSND NM_057176.2(BSND): c.22C> T (p.Arg8Trp) single nucleotide variant Pathogenic rs74315285 GRCh37 Chromosome 1, 55464881: 55464881
6 BSND NM_057176.2(BSND): c.22C> T (p.Arg8Trp) single nucleotide variant Pathogenic rs74315285 GRCh38 Chromosome 1, 54999208: 54999208
7 BSND BSND, IVS1, 41-BP DEL deletion Pathogenic
8 BSND BSND, EX3-EX4 DEL deletion Pathogenic
9 BSND NM_057176.2(BSND): c.28G> A (p.Gly10Ser) single nucleotide variant Pathogenic rs74315287 GRCh37 Chromosome 1, 55464887: 55464887
10 BSND NM_057176.2(BSND): c.28G> A (p.Gly10Ser) single nucleotide variant Pathogenic rs74315287 GRCh38 Chromosome 1, 54999214: 54999214
11 BSND NM_057176.2(BSND): c.23G> T (p.Arg8Leu) single nucleotide variant Pathogenic rs74315288 GRCh37 Chromosome 1, 55464882: 55464882
12 BSND NM_057176.2(BSND): c.23G> T (p.Arg8Leu) single nucleotide variant Pathogenic rs74315288 GRCh38 Chromosome 1, 54999209: 54999209
13 BSND NM_057176.2(BSND): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs74315289 GRCh37 Chromosome 1, 55464998: 55464998
14 BSND NM_057176.2(BSND): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs74315289 GRCh38 Chromosome 1, 54999325: 54999325
15 BSND NM_057176.2(BSND): c.893G> A (p.Gly298Glu) single nucleotide variant Uncertain significance rs180858237 GRCh38 Chromosome 1, 55008558: 55008558
16 BSND NM_057176.2(BSND): c.893G> A (p.Gly298Glu) single nucleotide variant Uncertain significance rs180858237 GRCh37 Chromosome 1, 55474231: 55474231

Expression for Bartter Syndrome Type 4

Search GEO for disease gene expression data for Bartter Syndrome Type 4.

Pathways for Bartter Syndrome Type 4

GO Terms for Bartter Syndrome Type 4

Sources for Bartter Syndrome Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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