BARTS4B
MCID: BRT056
MIFTS: 35

Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness (BARTS4B)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

MalaCards integrated aliases for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:

Name: Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 58
Bartter Syndrome, Type 4b, Digenic 58 12 13 41
Barts4b 58 12 76
Bartter Syndrome, Type 4b 30 6
Neonatal Bartter Syndrome Type 4b with Sensorineural Deafness 12
Bartter Syndrome 4b, Neonatal, with Sensorineural Deafness 76
Infantile Bartter Syndrome with Sensorineural Deafness 76
Bartter Syndrome, Type 4a 74
Bartter Disease Type 4b 12
Bartter Syndrome 4b 76
Bsnd 76

Characteristics:

OMIM:

58
Miscellaneous:
genetic heterogeneity
onset in utero
severe volume depletion
see also antenatal bartter syndrome type 1 and bartter syndrome type 2

Inheritance:
digenic recessive


HPO:

33
bartter syndrome, type 4b, neonatal, with sensorineural deafness:
Onset and clinical course congenital onset
Inheritance heterogeneous


Classifications:



Summaries for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

OMIM : 58 Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. (613090)

MalaCards based summary : Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness, also known as bartter syndrome, type 4b, digenic, is related to bartter disease and renal tubular transport disease, and has symptoms including polyuria An important gene associated with Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness is CLCNKA (Chloride Voltage-Gated Channel Ka), and among its related pathways/superpathways are Ion channel transport and Hepatic ABC Transporters. Related phenotypes are intellectual disability and muscular hypotonia

Disease Ontology : 12 A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.

UniProtKB/Swiss-Prot : 76 Bartter syndrome 4B, neonatal, with sensorineural deafness: A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness.

Related Diseases for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:



Diseases related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Symptoms & Phenotypes for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Human phenotypes related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 muscular hypotonia 33 HP:0001252
3 failure to thrive 33 HP:0001508
4 sensorineural hearing impairment 33 HP:0000407
5 renal insufficiency 33 HP:0000083
6 hypokalemia 33 HP:0002900
7 edema 33 HP:0000969
8 motor delay 33 HP:0001270
9 polyhydramnios 33 HP:0001561
10 hyperaldosteronism 33 HP:0000859
11 hyponatremia 33 HP:0002902
12 hyporeflexia 33 HP:0001265
13 premature birth 33 HP:0001622
14 generalized hypotonia 33 HP:0001290
15 renal salt wasting 33 HP:0000127
16 hypernatriuria 33 HP:0012605
17 fetal polyuria 33 HP:0001563
18 increased urinary potassium 33 HP:0003081
19 decreased glomerular filtration rate 33 HP:0012213
20 polyuria 33 HP:0000103
21 hypochloremia 33 HP:0003113
22 hypokalemic hypochloremic metabolic alkalosis 33 HP:0004909
23 hyperchloriduria 33 HP:0002914

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal polyuria
fetal hydrops

Neurologic Central Nervous System:
hyporeflexia
delayed motor development
mental retardation
motor retardation

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
deafness, sensorineural

Laboratory Abnormalities:
hypokalemia
hyponatremia
increased urinary potassium
hypochloremia
increased urinary chloride
more
Endocrine Features:
hyperaldosteronism
stimulation of the renin/angiotensin/aldosterone axis

Genitourinary Kidneys:
renal salt wasting
decreased glomerular filtration rate
polyuria
inability to concentrate urine
renal failure, chronic

Prenatal Manifestations Delivery:
premature delivery

Metabolic Features:
hypokalemic hypochloremic metabolic alkalosis

Clinical features from OMIM:

613090

UMLS symptoms related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:


polyuria

Drugs & Therapeutics for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Genetic Tests for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Genetic tests related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:

# Genetic test Affiliating Genes
1 Bartter Syndrome, Type 4b 30 CLCNKA CLCNKB

Anatomical Context for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Publications for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Articles related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:

# Title Authors Year
1
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. ( 18310267 )
2008
2
Salt wasting and deafness resulting from mutations in two chloride channels. ( 15044642 )
2004
3
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. ( 9463315 )
1998

Variations for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:

76
# Symbol AA change Variation ID SNP ID
1 CLCNKA p.Trp80Cys VAR_063074 rs121909137

ClinVar genetic disease variations for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCNKA NM_004070.3(CLCNKA): c.240G> C (p.Trp80Cys) single nucleotide variant Pathogenic rs121909137 GRCh37 Chromosome 1, 16351268: 16351268
2 CLCNKA NM_004070.3(CLCNKA): c.240G> C (p.Trp80Cys) single nucleotide variant Pathogenic rs121909137 GRCh38 Chromosome 1, 16024773: 16024773
3 CLCNKA NM_004070.3(CLCNKA): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs121909138 GRCh37 Chromosome 1, 16353927: 16353927
4 CLCNKA NM_004070.3(CLCNKA): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs121909138 GRCh38 Chromosome 1, 16027432: 16027432
5 CLCNKA NM_004070.3(CLCNKA): c.1613G> C (p.Arg538Pro) single nucleotide variant Uncertain significance rs762119830 GRCh38 Chromosome 1, 16030665: 16030665
6 CLCNKA NM_004070.3(CLCNKA): c.1613G> C (p.Arg538Pro) single nucleotide variant Uncertain significance rs762119830 GRCh37 Chromosome 1, 16357160: 16357160
7 CLCNKA NM_004070.3(CLCNKA): c.55C> T (p.Gln19Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 16022674: 16022674
8 CLCNKA NM_004070.3(CLCNKA): c.55C> T (p.Gln19Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 16349169: 16349169

Expression for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Search GEO for disease gene expression data for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness.

Pathways for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Pathways related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 CLCNKA CLCNKB
2
Show member pathways
11.05 CLCNKA CLCNKB
3 10.09 CLCNKA CLCNKB

GO Terms for Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Cellular components related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 8.62 CLCNKA CLCNKB

Biological processes related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.4 CLCNKA CLCNKB
2 transmembrane transport GO:0055085 9.37 CLCNKA CLCNKB
3 ion transmembrane transport GO:0034220 9.32 CLCNKA CLCNKB
4 regulation of ion transmembrane transport GO:0034765 9.26 CLCNKA CLCNKB
5 chloride transmembrane transport GO:1902476 9.16 CLCNKA CLCNKB
6 chloride transport GO:0006821 8.96 CLCNKA CLCNKB
7 excretion GO:0007588 8.62 CLCNKA CLCNKB

Molecular functions related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 8.96 CLCNKA CLCNKB
2 voltage-gated chloride channel activity GO:0005247 8.62 CLCNKA CLCNKB

Sources for Bartter Syndrome, Type 4b, Neonatal, 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
Content
Loading form....