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 20 6 70
Bartter Syndrome with Sensorineural Deafness 20
Bartter Syndrome, Type 4a 70
Bsnd 20

Classifications:



External Ids:

UMLS 70 C1865270 C3838860

Summaries for Bartter Syndrome Type 4

GARD : 20 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.

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 infantile bartter syndrome with sensorineural deafness, 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 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 44)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.6
2 infantile bartter syndrome with sensorineural deafness 11.4
3 bartter disease 11.2
4 bartter syndrome, type 3 11.2
5 hypokalemia 11.1
6 sensorineural hearing loss 11.0
7 gitelman syndrome 11.0
8 deafness, autosomal recessive 11.0
9 nephrolithiasis 11.0
10 autosomal recessive non-syndromic sensorineural deafness type dfnb 11.0
11 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.0
12 polyhydramnios 10.9
13 antenatal bartter syndrome 10.9
14 diabetes insipidus, nephrogenic, autosomal 10.8
15 orofaciodigital syndrome x 10.8
16 liddle syndrome 1 10.8
17 hypomagnesemia 5, renal, with or without ocular involvement 10.8
18 dent disease 1 10.8
19 deafness, autosomal dominant 2a 10.8
20 hypocalcemia, autosomal dominant 1 10.8
21 valproate embryopathy 10.8
22 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.8
23 auditory system disease 10.8
24 inner ear disease 10.8
25 renal tubular transport disease 10.8
26 hereditary hearing loss and deafness 10.8
27 autosomal dominant non-syndromic sensorineural deafness type dfna 10.8
28 branchiootic syndrome 1 10.4
29 renal cell carcinoma, nonpapillary 10.0
30 oncocytoma 10.0
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
32 chromophobe renal cell carcinoma 10.0
33 kidney disease 10.0
34 renal oncocytoma 10.0
35 hypercalciuria, absorptive, 2 9.9
36 hypertension, essential 9.9
37 autosomal recessive disease 9.9
38 adenoid cystic carcinoma 9.9
39 acinar cell carcinoma 9.9
40 pleomorphic adenoma 9.9
41 mucoepidermoid carcinoma 9.9
42 end stage renal disease 9.9
43 nonsyndromic deafness 9.9
44 nonsyndromic hearing loss 9.9

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

Anatomical Context for Bartter Syndrome Type 4

MalaCards organs/tissues related to Bartter Syndrome Type 4:

40
Spinal Cord, Salivary Gland

Publications for Bartter Syndrome Type 4

Articles related to Bartter Syndrome Type 4:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. 6 61
21269598 2011
2
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 61 6
19096086 2009
3
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 6 61
18776122 2009
4
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND. 6 61
16935888 2007
5
Type IV Bartter syndrome: report of two new cases. 61 6
16583241 2006
6
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 6 61
16572343 2006
7
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. 61 6
16328537 2006
8
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. 61 6
12574213 2003
9
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 61 6
11687798 2001
10
Adult presentation of Bartter syndrome type IV with erythrocytosis. 6
26537508 2015
11
Phosphate homeostasis in Bartter syndrome: a case-control study. 6
24902942 2014
12
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. 6
11734858 2001
13
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 6
9463315 1998
14
Genetic diversity and population structure of Tibetan sheep breeds determined by whole genome resequencing. 61
33611716 2021
15
Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit. 61
31706454 2020
16
Hypokalemia and hearing loss in a 3-year-old boy: Questions. 61
31667618 2020
17
Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine. 61
32256370 2020
18
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. 61
31879347 2020
19
Clinical importance of potassium intake and molecular mechanism of potassium regulation. 61
31317362 2019
20
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
21
Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption. 61
31177533 2019
22
A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report. 61
31441846 2019
23
[Genetic analysis of a pedigree affected with Bartter's syndrome]. 61
31302915 2019
24
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
25
Reconstitution and NMR Characterization of the Ion-Channel Accessory Subunit Barttin in Detergents and Lipid-Bilayer Nanodiscs. 61
30931313 2019
26
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome. 61
30174009 2018
27
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. 61
29986705 2018
28
Clinical and diagnostic features of Bartter and Gitelman syndromes. 61
29942493 2018
29
BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors. 61
28470573 2018
30
Role of ClC-K and barttin in low potassium-induced sodium chloride cotransporter activation and hypertension in mouse kidney. 61
29326302 2018
31
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies. 61
29327352 2018
32
Mutation spectrum of Chinese patients with Bartter syndrome. 61
29254190 2017
33
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan. 61
28334417 2017
34
Genetic causes of hypomagnesemia, a clinical overview. 61
27234911 2017
35
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. 61
28012523 2017
36
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact. 61
28555110 2017
37
Molecular bases of K+ secretory cells in the inner ear: shared and distinct features between birds and mammals. 61
27680950 2016
38
BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma. 61
26091477 2015
39
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. 61
23110775 2014
40
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 61
24949729 2014
41
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice. 61
24189473 2013
42
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology. 61
26069764 2012
43
Genetic basis of Bartter syndrome in Korea. 61
21865213 2012
44
Generation and analyses of R8L barttin knockin mouse. 61
21593186 2011
45
Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis. 61
21541222 2011
46
A case of antenatal Bartter syndrome with sensorineural deafness. 61
21158220 2010
47
Physiological genomics identifies estrogen-related receptor alpha as a regulator of renal sodium and potassium homeostasis and the renin-angiotensin pathway. 61
19901197 2010
48
Physiology and pathophysiology of ClC-K/barttin channels. 61
21423394 2010
49
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. 61
19646679 2009
50
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 61
18843510 2009

Variations for Bartter Syndrome Type 4

ClinVar genetic disease variations for Bartter Syndrome Type 4:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BSND NM_057176.3(BSND):c.1A>T (p.Met1Leu) SNV Pathogenic 4380 rs74315284 GRCh37: 1:55464860-55464860
GRCh38: 1:54999187-54999187
2 BSND BSND, IVS1, 41-BP DEL Deletion Pathogenic 4382 GRCh37:
GRCh38:
3 BSND BSND, EX3-EX4 DEL Deletion Pathogenic 4383 GRCh37:
GRCh38:
4 BSND NM_057176.3(BSND):c.139G>A (p.Gly47Arg) SNV Pathogenic 4387 rs74315289 GRCh37: 1:55464998-55464998
GRCh38: 1:54999325-54999325
5 BSND NM_057176.3(BSND):c.452del (p.Pro151fs) Deletion Pathogenic 590851 rs765135576 GRCh37: 1:55472847-55472847
GRCh38: 1:55007174-55007174
6 BSND NM_057176.3(BSND):c.22C>T (p.Arg8Trp) SNV Pathogenic 4381 rs74315285 GRCh37: 1:55464881-55464881
GRCh38: 1:54999208-54999208
7 BSND NM_057176.3(BSND):c.28G>A (p.Gly10Ser) SNV Pathogenic 4385 rs74315287 GRCh37: 1:55464887-55464887
GRCh38: 1:54999214-54999214
8 BSND NM_057176.3(BSND):c.23G>T (p.Arg8Leu) SNV Pathogenic 4386 rs74315288 GRCh37: 1:55464882-55464882
GRCh38: 1:54999209-54999209
9 BSND NM_057176.3(BSND):c.715C>T (p.Gln239Ter) SNV Pathogenic 595950 rs147394986 GRCh37: 1:55474053-55474053
GRCh38: 1:55008380-55008380
10 BSND NM_057176.3(BSND):c.3G>A (p.Met1Ile) SNV Pathogenic/Likely pathogenic 4384 rs74315286 GRCh37: 1:55464862-55464862
GRCh38: 1:54999189-54999189
11 BSND NM_057176.3(BSND):c.482C>T (p.Ala161Val) SNV Uncertain significance 228463 rs369618892 GRCh37: 1:55472879-55472879
GRCh38: 1:55007206-55007206
12 BSND NM_057176.3(BSND):c.893G>A (p.Gly298Glu) SNV Uncertain significance 225307 rs180858237 GRCh37: 1:55474231-55474231
GRCh38: 1:55008558-55008558
13 BSND NM_057176.3(BSND):c.35T>C (p.Ile12Thr) SNV Uncertain significance 4388 rs121908144 GRCh37: 1:55464894-55464894
GRCh38: 1:54999221-54999221
14 BSND NM_057176.3(BSND):c.402del (p.Glu135fs) Deletion Uncertain significance 631609 rs1281690580 GRCh37: 1:55472799-55472799
GRCh38: 1:55007126-55007126
15 BSND NM_057176.3(BSND):c.859G>T (p.Glu287Ter) SNV Uncertain significance 505171 rs376784896 GRCh37: 1:55474197-55474197
GRCh38: 1:55008524-55008524
16 BSND NM_057176.3(BSND):c.52C>G (p.Leu18Val) SNV Uncertain significance 634810 rs754403589 GRCh37: 1:55464911-55464911
GRCh38: 1:54999238-54999238
17 BSND NM_057176.3(BSND):c.306G>T (p.Trp102Cys) SNV Uncertain significance 874343 GRCh37: 1:55472703-55472703
GRCh38: 1:55007030-55007030
18 BSND NM_057176.3(BSND):c.393G>T (p.Leu131Phe) SNV Uncertain significance 874344 GRCh37: 1:55472790-55472790
GRCh38: 1:55007117-55007117
19 BSND NM_057176.3(BSND):c.457G>A (p.Asp153Asn) SNV Uncertain significance 178291 rs202128855 GRCh37: 1:55472854-55472854
GRCh38: 1:55007181-55007181
20 BSND NM_057176.3(BSND):c.547G>A (p.Gly183Ser) SNV Uncertain significance 740286 rs750027126 GRCh37: 1:55472944-55472944
GRCh38: 1:55007271-55007271
21 BSND NM_057176.3(BSND):c.216C>A (p.Ile72=) SNV Uncertain significance 297677 rs755897497 GRCh37: 1:55470733-55470733
GRCh38: 1:55005060-55005060
22 BSND NM_057176.3(BSND):c.-175C>T SNV Uncertain significance 297671 rs886046422 GRCh37: 1:55464685-55464685
GRCh38: 1:54999012-54999012
23 BSND NM_057176.3(BSND):c.696G>A (p.Arg232=) SNV Uncertain significance 297679 rs886046424 GRCh37: 1:55474034-55474034
GRCh38: 1:55008361-55008361
24 BSND NM_057176.3(BSND):c.635A>G (p.Asn212Ser) SNV Uncertain significance 875268 GRCh37: 1:55473973-55473973
GRCh38: 1:55008300-55008300
25 BSND NM_057176.3(BSND):c.758C>T (p.Pro253Leu) SNV Uncertain significance 875269 GRCh37: 1:55474096-55474096
GRCh38: 1:55008423-55008423
26 BSND NM_057176.3(BSND):c.917T>C (p.Leu306Pro) SNV Uncertain significance 46552 rs139049536 GRCh37: 1:55474255-55474255
GRCh38: 1:55008582-55008582
27 BSND NM_057176.3(BSND):c.*6T>C SNV Uncertain significance 875270 GRCh37: 1:55474307-55474307
GRCh38: 1:55008634-55008634
28 BSND NM_057176.3(BSND):c.*15G>A SNV Uncertain significance 875271 GRCh37: 1:55474316-55474316
GRCh38: 1:55008643-55008643
29 BSND NM_057176.3(BSND):c.10G>A (p.Glu4Lys) SNV Uncertain significance 667197 rs121908145 GRCh37: 1:55464869-55464869
GRCh38: 1:54999196-54999196
30 BSND NM_057176.3(BSND):c.16A>G (p.Thr6Ala) SNV Uncertain significance 290808 rs201342416 GRCh37: 1:55464875-55464875
GRCh38: 1:54999202-54999202
31 BSND NM_057176.3(BSND):c.*56T>C SNV Uncertain significance 876227 GRCh37: 1:55474357-55474357
GRCh38: 1:55008684-55008684
32 BSND NM_057176.3(BSND):c.261C>T (p.Ala87=) SNV Uncertain significance 876316 GRCh37: 1:55470778-55470778
GRCh38: 1:55005105-55005105
33 BSND NM_057176.3(BSND):c.294T>C (p.Tyr98=) SNV Uncertain significance 876317 GRCh37: 1:55472691-55472691
GRCh38: 1:55007018-55007018
34 BSND NM_057176.3(BSND):c.64G>C (p.Gly22Arg) SNV Uncertain significance 992426 GRCh37: 1:55464923-55464923
GRCh38: 1:54999250-54999250
35 BSND NM_057176.3(BSND):c.713T>A (p.Phe238Tyr) SNV Uncertain significance 297680 rs752564097 GRCh37: 1:55474051-55474051
GRCh38: 1:55008378-55008378
36 BSND NM_057176.3(BSND):c.-34G>A SNV Uncertain significance 297675 rs768683733 GRCh37: 1:55464826-55464826
GRCh38: 1:54999153-54999153
37 BSND NM_057176.3(BSND):c.102C>T (p.Tyr34=) SNV Uncertain significance 227188 rs141403253 GRCh37: 1:55464961-55464961
GRCh38: 1:54999288-54999288
38 BSND NM_057176.3(BSND):c.604G>A (p.Asp202Asn) SNV Uncertain significance 297678 rs886046423 GRCh37: 1:55473942-55473942
GRCh38: 1:55008269-55008269
39 BSND NM_057176.3(BSND):c.309G>C (p.Glu103Asp) SNV Uncertain significance 227191 rs200246335 GRCh37: 1:55472706-55472706
GRCh38: 1:55007033-55007033
40 BSND NM_057176.3(BSND):c.189C>T (p.Val63=) SNV Likely benign 46549 rs144505461 GRCh37: 1:55470706-55470706
GRCh38: 1:55005033-55005033
41 BSND NM_057176.3(BSND):c.459C>T (p.Asp153=) SNV Likely benign 226465 rs138974602 GRCh37: 1:55472856-55472856
GRCh38: 1:55007183-55007183
42 BSND NM_057176.3(BSND):c.924G>A (p.Pro308=) SNV Benign 46553 rs33938617 GRCh37: 1:55474262-55474262
GRCh38: 1:55008589-55008589
43 BSND NM_057176.3(BSND):c.177+11G>A SNV Benign 46546 rs78904893 GRCh37: 1:55465047-55465047
GRCh38: 1:54999374-54999374
44 BSND NM_057176.3(BSND):c.-156G>C SNV Benign 297672 rs183925883 GRCh37: 1:55464704-55464704
GRCh38: 1:54999031-54999031
45 BSND NM_057176.3(BSND):c.*94A>G SNV Benign 297682 rs80300625 GRCh37: 1:55474395-55474395
GRCh38: 1:55008722-55008722
46 BSND NM_057176.3(BSND):c.-25C>T SNV Benign 297676 rs188418228 GRCh37: 1:55464835-55464835
GRCh38: 1:54999162-54999162
47 BSND NM_057176.3(BSND):c.127G>A (p.Val43Ile) SNV Benign 46545 rs34561376 GRCh37: 1:55464986-55464986
GRCh38: 1:54999313-54999313
48 BSND NM_057176.3(BSND):c.63C>T (p.Leu21=) SNV Benign 46550 rs141611486 GRCh37: 1:55464922-55464922
GRCh38: 1:54999249-54999249
49 BSND NM_057176.3(BSND):c.*24A>C SNV Benign 297681 rs6682884 GRCh37: 1:55474325-55474325
GRCh38: 1:55008652-55008652
50 BSND NM_057176.3(BSND):c.-70C>G SNV Benign 297674 rs2500341 GRCh37: 1:55464790-55464790
GRCh38: 1:54999117-54999117

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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