MCID: BRT024
MIFTS: 18

Bartter Syndrome Type 4

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

Aliases & Classifications for Bartter Syndrome Type 4

MalaCards integrated aliases for Bartter Syndrome Type 4:

Name: Bartter Syndrome Type 4 49 28 69
Bartter Syndrome with Sensorineural Deafness 49
Bartter Syndrome, Type 4a 69
Bsnd 49

Classifications:



External Ids:

Summaries for Bartter Syndrome Type 4

NIH Rare Diseases : 49 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. Last updated: 9/10/2014

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).

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 12.2
2 bartter syndrome, type 3 11.6
3 bartter disease 11.4
4 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.3
5 infantile bartter syndrome with sensorineural deafness 11.2

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 28 BSND

Anatomical Context for Bartter Syndrome Type 4

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
# Gene Variation Type Significance SNP ID Assembly Location
1 BSND NM_057176.2(BSND): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs74315284 GRCh37 Chromosome 1, 55464860: 55464860
2 BSND NM_057176.2(BSND): c.22C> T (p.Arg8Trp) single nucleotide variant Pathogenic rs74315285 GRCh37 Chromosome 1, 55464881: 55464881
3 BSND BSND, IVS1, 41-BP DEL deletion Pathogenic
4 BSND BSND, EX3-EX4 DEL deletion Pathogenic
5 BSND NM_057176.2(BSND): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs74315286 GRCh37 Chromosome 1, 55464862: 55464862
6 BSND NM_057176.2(BSND): c.28G> A (p.Gly10Ser) single nucleotide variant Pathogenic rs74315287 GRCh37 Chromosome 1, 55464887: 55464887
7 BSND NM_057176.2(BSND): c.23G> T (p.Arg8Leu) single nucleotide variant Pathogenic rs74315288 GRCh37 Chromosome 1, 55464882: 55464882
8 BSND NM_057176.2(BSND): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs74315289 GRCh37 Chromosome 1, 55464998: 55464998

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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