MCID: INF164
MIFTS: 25

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 58
Bartter Syndrome Type 4 58 70
Infantile Bartter Syndrome with Sensorineural Hearing Loss 58
Bartter Syndrome Type Iv 58

Characteristics:

Orphanet epidemiological data:

58
infantile bartter syndrome with sensorineural deafness
Inheritance: Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 E26.8
Orphanet 58 ORPHA89938
UMLS 70 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 4a, neonatal, with sensorineural deafness and bartter syndrome, type 4b, neonatal, with sensorineural deafness. An important gene associated with Infantile Bartter Syndrome with Sensorineural Deafness is BSND (Barttin CLCNK Type Accessory Subunit Beta), 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. Affiliated tissues include kidney, and related phenotypes are failure to thrive and emotional lability

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

Human phenotypes related to Infantile Bartter Syndrome with Sensorineural Deafness:

58 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 Frequent (79-30%)
2 emotional lability 58 Occasional (29-5%)
3 hypertension 58 Excluded (0%)
4 muscular hypotonia 58 Frequent (79-30%)
5 muscle weakness 58 Frequent (79-30%)
6 dehydration 58 Occasional (29-5%)
7 vomiting 58 Occasional (29-5%)
8 hypokalemia 58 Very frequent (99-80%)
9 motor delay 58 Frequent (79-30%)
10 polyhydramnios 58 Frequent (79-30%)
11 nephrocalcinosis 58 Occasional (29-5%)
12 protruding ear 58 Very rare (<4-1%)
13 hyperaldosteronism 58 Very frequent (99-80%)
14 hypercalciuria 58 Frequent (79-30%)
15 hyponatremia 58 Frequent (79-30%)
16 triangular face 58 Very rare (<4-1%)
17 premature birth 58 Frequent (79-30%)
18 clumsiness 58 Occasional (29-5%)
19 small for gestational age 58 Frequent (79-30%)
20 chronic kidney disease 58 Frequent (79-30%)
21 impaired renal concentrating ability 58 Very frequent (99-80%)
22 bilateral sensorineural hearing impairment 58 Very frequent (99-80%)
23 acute kidney injury 58 Occasional (29-5%)
24 stage 5 chronic kidney disease 58 Occasional (29-5%)
25 hypomagnesemia 58 Frequent (79-30%)
26 hypokalemic metabolic alkalosis 58 Very frequent (99-80%)
27 renal salt wasting 58 Very frequent (99-80%)
28 increased circulating renin level 58 Very frequent (99-80%)
29 hyperprostaglandinuria 58 Frequent (79-30%)
30 increased urinary potassium 58 Frequent (79-30%)
31 severe failure to thrive 58 Occasional (29-5%)
32 nasogastric tube feeding 58 Occasional (29-5%)
33 delayed ability to walk 58 Frequent (79-30%)
34 delayed ability to stand 58 Frequent (79-30%)
35 hyperactive renin-angiotensin system 58 Very frequent (99-80%)
36 hypochloremia 58 Frequent (79-30%)

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

46
# 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

MalaCards organs/tissues related to Infantile Bartter Syndrome with Sensorineural Deafness:

40
Kidney

Publications for Infantile Bartter Syndrome with Sensorineural Deafness

Articles related to Infantile Bartter Syndrome with Sensorineural Deafness:

# Title Authors PMID Year
1
Hypokalemia and hearing loss in a 3-year-old boy: Questions. 61
31667618 2020
2
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 61
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 CLCNKB CLCNKA BSND
2
Show member pathways
11.63 CLCNKB CLCNKA BSND
3
Show member pathways
11.25 CLCNKB CLCNKA
4 10.26 CLCNKB CLCNKA BSND

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 CLCNKB CLCNKA BSND
2 chloride channel complex GO:0034707 8.62 CLCNKB CLCNKA

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 CLCNKB CLCNKA BSND
2 regulation of ion transmembrane transport GO:0034765 9.32 CLCNKB CLCNKA
3 excretion GO:0007588 9.26 CLCNKB CLCNKA
4 chloride transmembrane transport GO:1902476 9.13 CLCNKB CLCNKA BSND
5 chloride transport GO:0006821 8.8 CLCNKB CLCNKA BSND

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.16 CLCNKB CLCNKA
2 voltage-gated chloride channel activity GO:0005247 8.96 CLCNKB CLCNKA
3 chloride channel activity GO:0005254 8.8 CLCNKB CLCNKA BSND

Sources for Infantile Bartter Syndrome with Sensorineural Deafness

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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