MCID: INF164
MIFTS: 21

Infantile Bartter Syndrome with Sensorineural Deafness

Categories: Ear diseases, Fetal diseases, Nephrological 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 60
Bartter Syndrome Type 4 60 74
Bartter Syndrome Type Iv 60
Bartter Syndrome, Type 4 41

Characteristics:

Orphanet epidemiological data:

60
infantile bartter syndrome with sensorineural deafness
Inheritance: Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 E26.8
Orphanet 60 ORPHA89938
UMLS 74 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 disease. An important gene associated with Infantile Bartter Syndrome with Sensorineural Deafness is CLCNKA (Chloride Voltage-Gated Channel Ka), 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 phenotype is renal/urinary system.

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

MGI Mouse Phenotypes related to Infantile Bartter Syndrome with Sensorineural Deafness:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 BSND CLCNKA CLCNKB

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
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. ( 9463315 )
1998

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 8.62 CLCNKA CLCNKB

Sources for Infantile Bartter Syndrome with Sensorineural Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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