MCID: INF164
MIFTS: 22

Infantile Bartter Syndrome with Sensorineural Deafness

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

Aliases & Classifications for Infantile Bartter Syndrome with Sensorineural Deafness

MalaCards integrated aliases for Infantile Bartter Syndrome with Sensorineural Deafness:

Name: Infantile Bartter Syndrome with Sensorineural Deafness 59
Bartter Syndrome Type 4 59 73
Bartter Syndrome Type Iv 59
Bartter Syndrome, Type 4 40

Characteristics:

Orphanet epidemiological data:

59
infantile bartter syndrome with sensorineural deafness
Inheritance: Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA89938
ICD10 via Orphanet 34 E26.8
UMLS 73 C3838860

Summaries for Infantile Bartter Syndrome with Sensorineural Deafness

MalaCards based summary : Infantile Bartter Syndrome with Sensorineural Deafness, also known as bartter syndrome type 4, is related to bartter syndrome, type 4b, neonatal, with sensorineural deafness and bartter syndrome type 4. An important gene associated with Infantile Bartter Syndrome with Sensorineural Deafness is CLCNKB (Chloride Voltage-Gated Channel Kb), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport.

Related Diseases for Infantile Bartter Syndrome with Sensorineural Deafness

Graphical network of the top 20 diseases related to Infantile Bartter Syndrome with Sensorineural Deafness:



Diseases related to Infantile Bartter Syndrome with Sensorineural Deafness

Symptoms & Phenotypes for Infantile Bartter Syndrome with Sensorineural Deafness

Drugs & Therapeutics for Infantile Bartter Syndrome with Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Infantile Bartter Syndrome with Sensorineural Deafness

Genetic Tests for Infantile Bartter Syndrome with Sensorineural Deafness

Anatomical Context for Infantile Bartter Syndrome with Sensorineural Deafness

Publications for Infantile Bartter Syndrome with Sensorineural Deafness

Articles related to Infantile Bartter Syndrome with Sensorineural Deafness:

# Title Authors Year
1
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. ( 23110775 )
2014
2
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. ( 21269598 )
2011
3
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. ( 18776122 )
2009
4
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. ( 16328537 )
2006

Variations for Infantile Bartter Syndrome with Sensorineural Deafness

Expression for Infantile Bartter Syndrome with Sensorineural Deafness

Search GEO for disease gene expression data for Infantile Bartter Syndrome with Sensorineural Deafness.

Pathways for Infantile Bartter Syndrome with Sensorineural Deafness

Pathways related to Infantile Bartter Syndrome with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 BSND CLCNKA CLCNKB
2
Show member pathways
11.63 BSND CLCNKA CLCNKB
3
Show member pathways
11.25 CLCNKA CLCNKB
4 10.26 BSND CLCNKA CLCNKB

GO Terms for Infantile Bartter Syndrome with Sensorineural Deafness

Cellular components related to Infantile Bartter Syndrome with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.13 BSND CLCNKA CLCNKB
2 chloride channel complex GO:0034707 8.62 CLCNKA CLCNKB

Biological processes related to Infantile Bartter Syndrome with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.33 BSND CLCNKA CLCNKB
2 regulation of ion transmembrane transport GO:0034765 9.32 CLCNKA CLCNKB
3 excretion GO:0007588 9.26 CLCNKA CLCNKB
4 chloride transmembrane transport GO:1902476 9.13 BSND CLCNKA CLCNKB
5 chloride transport GO:0006821 8.8 BSND CLCNKA CLCNKB

Molecular functions related to Infantile Bartter Syndrome with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.13 BSND CLCNKA CLCNKB
2 voltage-gated chloride channel activity GO:0005247 8.8 BSND CLCNKA CLCNKB

Sources for Infantile Bartter Syndrome with Sensorineural Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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