BSND
MCID: BRT024
MIFTS: 26

Bartter Syndrome Type 4 (BSND)

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

Aliases & Classifications for Bartter Syndrome Type 4

MalaCards integrated aliases for Bartter Syndrome Type 4:

Name: Bartter Syndrome Type 4 53 29 6 72
Bartter Syndrome with Sensorineural Deafness 53
Bartter Syndrome, Type 4a 72
Bartter Syndrome, Type 4 40
Bsnd 53

Classifications:



External Ids:

UMLS 72 C1865270 C3838860

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: 89938DefinitionInfantile 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 gene BSND (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, salivary gland and spinal cord.

Related Diseases for Bartter Syndrome Type 4

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, Salivary Gland, Spinal Cord

Publications for Bartter Syndrome Type 4

Articles related to Bartter Syndrome Type 4:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome model mice through activation of sodium-potassium-2 chloride cotransporter and sodium-chloride cotransporter. 38
31362893 2019
2
Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption. 38
31177533 2019
3
[Genetic analysis of a pedigree affected with Bartter's syndrome]. 38
31302915 2019
4
Clinical importance of potassium intake and molecular mechanism of potassium regulation. 38
31317362 2019
5
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. 38
30760291 2019
6
Reconstitution and NMR Characterization of the Ion-Channel Accessory Subunit Barttin in Detergents and Lipid-Bilayer Nanodiscs. 38
30931313 2019
7
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome. 38
30174009 2018
8
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. 38
29986705 2018
9
Clinical and diagnostic features of Bartter and Gitelman syndromes. 38
29942493 2018
10
BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors. 38
28470573 2018
11
Role of ClC-K and barttin in low potassium-induced sodium chloride cotransporter activation and hypertension in mouse kidney. 38
29326302 2018
12
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies. 38
29327352 2018
13
Mutation spectrum of Chinese patients with Bartter syndrome. 38
29254190 2017
14
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan. 38
28334417 2017
15
Genetic causes of hypomagnesemia, a clinical overview. 38
27234911 2017
16
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. 38
28012523 2017
17
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact. 38
28555110 2017
18
Molecular bases of K+ secretory cells in the inner ear: shared and distinct features between birds and mammals. 38
27680950 2016
19
BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma. 38
26091477 2015
20
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. 38
23110775 2014
21
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 38
24949729 2014
22
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice. 38
24189473 2013
23
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology. 38
26069764 2012
24
Genetic basis of Bartter syndrome in Korea. 38
21865213 2012
25
Generation and analyses of R8L barttin knockin mouse. 38
21593186 2011
26
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. 38
21269598 2011
27
Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis. 38
21541222 2011
28
A case of antenatal Bartter syndrome with sensorineural deafness. 38
21158220 2010
29
Physiological genomics identifies estrogen-related receptor alpha as a regulator of renal sodium and potassium homeostasis and the renin-angiotensin pathway. 38
19901197 2010
30
Physiology and pathophysiology of ClC-K/barttin channels. 38
21423394 2010
31
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. 38
19646679 2009
32
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 38
19096086 2009
33
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 38
18843510 2009
34
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 38
18776122 2009
35
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV. 38
18833191 2008
36
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. 38
18310267 2008
37
Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. 38
17652939 2008
38
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. 38
18094726 2008
39
Functional BSND variants in essential hypertension. 38
17954364 2007
40
Functional significance of channels and transporters expressed in the inner ear and kidney. 38
17670895 2007
41
Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension. 38
17510212 2007
42
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND. 38
16935888 2007
43
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure. 38
17275579 2006
44
Type IV Bartter syndrome: report of two new cases. 38
16583241 2006
45
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 38
16572343 2006
46
Hereditary polyuric disorders: new concepts and differential diagnosis. 38
16713495 2006
47
Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds. 38
16549283 2006
48
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. 38
16328537 2006
49
Molecular biology of hereditary diabetes insipidus. 38
16093448 2005
50
Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases. 38
15496163 2004

Variations for Bartter Syndrome Type 4

ClinVar genetic disease variations for Bartter Syndrome Type 4:

6 (show all 15)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BSND NM_057176.3(BSND): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs74315284 1:55464860-55464860 1:54999187-54999187
2 BSND NM_057176.3(BSND): c.22C> T (p.Arg8Trp) single nucleotide variant Pathogenic rs74315285 1:55464881-55464881 1:54999208-54999208
3 BSND BSND, IVS1, 41-BP DEL deletion Pathogenic
4 BSND BSND, EX3-EX4 DEL deletion Pathogenic
5 BSND NM_057176.3(BSND): c.28G> A (p.Gly10Ser) single nucleotide variant Pathogenic rs74315287 1:55464887-55464887 1:54999214-54999214
6 BSND NM_057176.3(BSND): c.23G> T (p.Arg8Leu) single nucleotide variant Pathogenic rs74315288 1:55464882-55464882 1:54999209-54999209
7 BSND NM_057176.3(BSND): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs74315289 1:55464998-55464998 1:54999325-54999325
8 BSND NM_057176.3(BSND): c.452del (p.Pro151fs) deletion Pathogenic 1:55472849-55472849 1:55007176-55007176
9 BSND NM_057176.3(BSND): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs74315286 1:55464862-55464862 1:54999189-54999189
10 BSND NM_057176.3(BSND): c.35T> C (p.Ile12Thr) single nucleotide variant Uncertain significance rs121908144 1:55464894-55464894 1:54999221-54999221
11 BSND NM_057176.3(BSND): c.402del (p.Glu135fs) deletion Uncertain significance 1:55472798-55472799 1:55007126-55007126
12 BSND NM_057176.3(BSND): c.52C> G (p.Leu18Val) single nucleotide variant Uncertain significance rs754403589 1:55464911-55464911 1:54999238-54999238
13 BSND NM_057176.3(BSND): c.859G> T (p.Glu287Ter) single nucleotide variant Uncertain significance rs376784896 1:55474197-55474197 1:55008524-55008524
14 BSND NM_057176.3(BSND): c.893G> A (p.Gly298Glu) single nucleotide variant Uncertain significance rs180858237 1:55474231-55474231 1:55008558-55008558
15 BSND NM_057176.3(BSND): c.924G> A (p.Pro308=) single nucleotide variant Benign/Likely benign rs33938617 1:55474262-55474262 1:55008589-55008589

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 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
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