BARTS4B
MCID: BRT056
MIFTS: 34

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 57
Bartter Syndrome, Type 4b, Digenic 57 12 13 40
Barts4b 57 12 75
Bartter Syndrome, Type 4b 29 6
Neonatal Bartter Syndrome Type 4b with Sensorineural Deafness 12
Bartter Syndrome 4b, Neonatal, with Sensorineural Deafness 75
Infantile Bartter Syndrome with Sensorineural Deafness 75
Bartter Syndrome, Type 4a 73
Bartter Disease Type 4b 12
Bartter Syndrome 4b 75
Bsnd 75

Characteristics:

OMIM:

57
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:

32
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 : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 muscular hypotonia 32 HP:0001252
3 failure to thrive 32 HP:0001508
4 sensorineural hearing impairment 32 HP:0000407
5 renal insufficiency 32 HP:0000083
6 hypokalemia 32 HP:0002900
7 edema 32 HP:0000969
8 motor delay 32 HP:0001270
9 polyhydramnios 32 HP:0001561
10 hyperaldosteronism 32 HP:0000859
11 hyponatremia 32 HP:0002902
12 hyporeflexia 32 HP:0001265
13 premature birth 32 HP:0001622
14 generalized hypotonia 32 HP:0001290
15 renal salt wasting 32 HP:0000127
16 hypernatriuria 32 HP:0012605
17 fetal polyuria 32 HP:0001563
18 increased urinary potassium 32 HP:0003081
19 decreased glomerular filtration rate 32 HP:0012213
20 polyuria 32 HP:0000103
21 hypochloremia 32 HP:0003113
22 hypokalemic hypochloremic metabolic alkalosis 32 HP:0004909
23 hyperchloriduria 32 HP:0002914

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 29 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
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:

75
# 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

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 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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