BSND
MCID: BRT024
MIFTS: 25

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 52 29 6 71
Bartter Syndrome with Sensorineural Deafness 52
Bartter Syndrome, Type 4a 71
Bartter Syndrome, Type 4 39
Bsnd 52

Classifications:



External Ids:

UMLS 71 C1865270 C3838860

Summaries for Bartter Syndrome Type 4

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 89938 Definition Infantile 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. Epidemiology It is the least common of all recessive types of Bartter syndrome. Clinical description Infantile 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). Etiology Infantile 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 counseling The 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 Subunit Beta). Affiliated tissues include kidney, spinal cord and salivary gland.

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:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4a, neonatal, with sensorineural deafness 12.5
2 bartter syndrome, type 3 11.8
3 hypokalemia 11.6
4 bartter disease 11.6
5 sensorineural hearing loss 11.6
6 nonsyndromic deafness 11.6
7 infantile bartter syndrome with sensorineural deafness 11.5
8 polyhydramnios 11.4
9 antenatal bartter syndrome 11.4
10 gitelman syndrome 11.3
11 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.3
12 diabetes insipidus 11.2
13 diabetes insipidus, nephrogenic, autosomal 11.1
14 nephrolithiasis, calcium oxalate 11.1
15 liddle syndrome 1 11.1
16 bartter syndrome, type 2, antenatal 11.1
17 hypomagnesemia 5, renal, with or without ocular involvement 11.1
18 dent disease 1 11.1
19 deafness, autosomal dominant 2a 11.1
20 hypocalcemia, autosomal dominant 1 11.1
21 valproate embryopathy 11.1
22 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 11.1
23 mineral metabolism disease 11.1
24 nephrocalcinosis 11.1
25 auditory system disease 11.1
26 renal tubular transport disease 11.1
27 hereditary hearing loss and deafness 11.1
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 11.1
29 branchiootic syndrome 1 10.6
30 renal cell carcinoma, nonpapillary 10.2
31 oncocytoma 10.2
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
33 chromophobe renal cell carcinoma 10.2
34 kidney disease 10.2
35 renal oncocytoma 10.2
36 end stage renal failure 10.2
37 hypercalciuria, absorptive, 2 10.1
38 hypertension, essential 10.1
39 autosomal recessive disease 10.1
40 adenoid cystic carcinoma 10.1
41 acinar cell carcinoma 10.1
42 pleomorphic adenoma 10.1
43 mucoepidermoid carcinoma 10.1

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:

40
Kidney, Spinal Cord, Salivary Gland

Publications for Bartter Syndrome Type 4

Articles related to Bartter Syndrome Type 4:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. 61
31879347 2020
2
Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit. 61
31706454 2019
3
Hypokalemia and hearing loss in a 3-year-old boy: Questions. 61
31667618 2019
4
Clinical importance of potassium intake and molecular mechanism of potassium regulation. 61
31317362 2019
5
Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome model mice through activation of sodium-potassium-2 chloride cotransporter and sodium-chloride cotransporter. 61
31362893 2019
6
Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption. 61
31177533 2019
7
A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report. 61
31441846 2019
8
[Genetic analysis of a pedigree affected with Bartter's syndrome]. 61
31302915 2019
9
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. 61
30760291 2019
10
Reconstitution and NMR Characterization of the Ion-Channel Accessory Subunit Barttin in Detergents and Lipid-Bilayer Nanodiscs. 61
30931313 2019
11
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome. 61
30174009 2018
12
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. 61
29986705 2018
13
Clinical and diagnostic features of Bartter and Gitelman syndromes. 61
29942493 2018
14
BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors. 61
28470573 2018
15
Role of ClC-K and barttin in low potassium-induced sodium chloride cotransporter activation and hypertension in mouse kidney. 61
29326302 2018
16
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies. 61
29327352 2018
17
Mutation spectrum of Chinese patients with Bartter syndrome. 61
29254190 2017
18
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan. 61
28334417 2017
19
Genetic causes of hypomagnesemia, a clinical overview. 61
27234911 2017
20
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. 61
28012523 2017
21
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact. 61
28555110 2017
22
Molecular bases of K+ secretory cells in the inner ear: shared and distinct features between birds and mammals. 61
27680950 2016
23
BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma. 61
26091477 2015
24
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. 61
23110775 2014
25
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 61
24949729 2014
26
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice. 61
24189473 2013
27
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology. 61
26069764 2012
28
Genetic basis of Bartter syndrome in Korea. 61
21865213 2012
29
Generation and analyses of R8L barttin knockin mouse. 61
21593186 2011
30
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. 61
21269598 2011
31
Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis. 61
21541222 2011
32
A case of antenatal Bartter syndrome with sensorineural deafness. 61
21158220 2010
33
Physiology and pathophysiology of ClC-K/barttin channels. 61
21423394 2010
34
Physiological genomics identifies estrogen-related receptor alpha as a regulator of renal sodium and potassium homeostasis and the renin-angiotensin pathway. 61
19901197 2010
35
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. 61
19646679 2009
36
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 61
19096086 2009
37
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 61
18843510 2009
38
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 61
18776122 2009
39
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV. 61
18833191 2008
40
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. 61
18310267 2008
41
Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. 61
17652939 2008
42
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. 61
18094726 2008
43
Functional BSND variants in essential hypertension. 61
17954364 2007
44
Functional significance of channels and transporters expressed in the inner ear and kidney. 61
17670895 2007
45
Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension. 61
17510212 2007
46
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND. 61
16935888 2007
47
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure. 61
17275579 2006
48
Type IV Bartter syndrome: report of two new cases. 61
16583241 2006
49
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 61
16572343 2006
50
Hereditary polyuric disorders: new concepts and differential diagnosis. 61
16713495 2006

Variations for Bartter Syndrome Type 4

ClinVar genetic disease variations for Bartter Syndrome Type 4:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BSND NM_057176.3(BSND):c.1A>T (p.Met1Leu)SNV Pathogenic 4380 rs74315284 1:55464860-55464860 1:54999187-54999187
2 BSND NM_057176.3(BSND):c.22C>T (p.Arg8Trp)SNV Pathogenic 4381 rs74315285 1:55464881-55464881 1:54999208-54999208
3 BSND BSND, IVS1, 41-BP DELdeletion Pathogenic 4382
4 BSND BSND, EX3-EX4 DELdeletion Pathogenic 4383
5 BSND NM_057176.3(BSND):c.28G>A (p.Gly10Ser)SNV Pathogenic 4385 rs74315287 1:55464887-55464887 1:54999214-54999214
6 BSND NM_057176.3(BSND):c.23G>T (p.Arg8Leu)SNV Pathogenic 4386 rs74315288 1:55464882-55464882 1:54999209-54999209
7 BSND NM_057176.3(BSND):c.139G>A (p.Gly47Arg)SNV Pathogenic 4387 rs74315289 1:55464998-55464998 1:54999325-54999325
8 BSND NM_057176.3(BSND):c.452del (p.Pro151fs)deletion Pathogenic 590851 rs765135576 1:55472847-55472847 1:55007174-55007174
9 BSND NM_057176.3(BSND):c.3G>A (p.Met1Ile)SNV Likely pathogenic 4384 rs74315286 1:55464862-55464862 1:54999189-54999189
10 BSND NM_057176.3(BSND):c.893G>A (p.Gly298Glu)SNV Conflicting interpretations of pathogenicity 225307 rs180858237 1:55474231-55474231 1:55008558-55008558
11 BSND NM_057176.3(BSND):c.859G>T (p.Glu287Ter)SNV Uncertain significance 505171 rs376784896 1:55474197-55474197 1:55008524-55008524
12 BSND NM_057176.3(BSND):c.402del (p.Glu135fs)deletion Uncertain significance 631609 rs1281690580 1:55472799-55472799 1:55007126-55007126
13 BSND NM_057176.3(BSND):c.52C>G (p.Leu18Val)SNV Uncertain significance 634810 rs754403589 1:55464911-55464911 1:54999238-54999238
14 BSND NM_057176.3(BSND):c.35T>C (p.Ile12Thr)SNV Uncertain significance 4388 rs121908144 1:55464894-55464894 1:54999221-54999221
15 BSND NM_057176.3(BSND):c.924G>A (p.Pro308=)SNV Benign/Likely benign 46553 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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