MCID: BRT024
MIFTS: 18

Bartter Syndrome Type 4

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

Aliases & Classifications for Bartter Syndrome Type 4

MalaCards integrated aliases for Bartter Syndrome Type 4:

Name: Bartter Syndrome Type 4 50 29 69
Bartter Syndrome with Sensorineural Deafness 50
Bartter Syndrome, Type 4a 69
Bsnd 50

Classifications:



Summaries for Bartter Syndrome Type 4

NIH Rare Diseases : 50 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, and has symptoms including polyuria An important gene associated with Bartter Syndrome Type 4 is BSND (Barttin CLCNK Type Accessory Beta Subunit). The drugs Hormones and Calcium, Dietary have been mentioned in the context of this disorder.

Related Diseases for Bartter Syndrome Type 4

Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome, Type 4a
Bartter Syndrome, Type 2 Bartter Syndrome, Type 1
Bartter Syndrome Type 4

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

id Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4a 10.9

Symptoms & Phenotypes for Bartter Syndrome Type 4

UMLS symptoms related to Bartter Syndrome Type 4:


polyuria

Drugs & Therapeutics for Bartter Syndrome Type 4

Drugs for Bartter Syndrome Type 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones
2 Calcium, Dietary

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Parathyroid Hormone (PTH) Homeostasis in Bartter Syndrome Unknown status NCT01021280

Search NIH Clinical Center for Bartter Syndrome Type 4

Genetic Tests for Bartter Syndrome Type 4

Genetic tests related to Bartter Syndrome Type 4:

id Genetic test Affiliating Genes
1 Bartter Syndrome Type 4 29

Anatomical Context for Bartter Syndrome Type 4

Publications for Bartter Syndrome Type 4

Variations for Bartter Syndrome Type 4

ClinVar genetic disease variations for Bartter Syndrome Type 4:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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