BARTS4B
MCID: BRT056
MIFTS: 37

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 29 13
Barts4b 57 12 72
Bartter Syndrome, Type 4b 29 6
Neonatal Bartter Syndrome Type 4b with Sensorineural Deafness 12
Bartter Syndrome 4b, Neonatal, with Sensorineural Deafness 72
Infantile Bartter Syndrome with Sensorineural Deafness 72
Syndrome, Bartter, Type 4b 39
Bartter Syndrome, Type 4a 70
Bartter Disease Type 4b 12
Bartter Syndrome 4b 72
Bsnd 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
bartter syndrome, type 4b, neonatal, with sensorineural deafness:
Inheritance heterogeneous
Onset and clinical course congenital onset


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) (Updated 20-May-2021)

MalaCards based summary : Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness, also known as bartter syndrome, type 4b, digenic, is related to bartter syndrome, type 3 and autosomal recessive nonsyndromic deafness, 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. Affiliated tissues include kidney, and related phenotypes are intellectual disability and failure to thrive

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

UniProtKB/Swiss-Prot : 72 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

Diseases in the Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness family:

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

Diseases related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 3 31.3 CLCNKB CLCNKA
2 autosomal recessive nonsyndromic deafness 31.0 LOC106501712 CLCNKA
3 gitelman syndrome 31.0 CLCNKB CLCNKA
4 bartter disease 30.9 LOC106501712 CLCNKB CLCNKA
5 infantile bartter syndrome with sensorineural deafness 30.8 CLCNKB CLCNKA
6 renal tubular transport disease 30.8 CLCNKB CLCNKA
7 dent disease 1 30.7 CLCNKB CLCNKA
8 diabetes insipidus, nephrogenic, autosomal 30.5 CLCNKB CLCNKA
9 branchiootic syndrome 1 30.2 LOC106501712 CLCNKA
10 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.6
11 bartter syndrome type 4 11.3
12 hypokalemia 11.1
13 sensorineural hearing loss 11.0
14 deafness, autosomal recessive 11.0
15 nephrolithiasis 11.0
16 polyhydramnios 10.9
17 antenatal bartter syndrome 10.9
18 orofaciodigital syndrome x 10.8
19 liddle syndrome 1 10.8
20 hypomagnesemia 5, renal, with or without ocular involvement 10.8
21 deafness, autosomal dominant 2a 10.8
22 hypocalcemia, autosomal dominant 1 10.8
23 valproate embryopathy 10.8
24 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.8
25 auditory system disease 10.8
26 inner ear disease 10.8
27 hereditary hearing loss and deafness 10.8
28 autosomal dominant non-syndromic sensorineural deafness type dfna 10.8
29 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.8
30 oncocytoma 10.0
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
32 chromophobe renal cell carcinoma 10.0
33 kidney disease 10.0
34 renal oncocytoma 10.0
35 hypercalciuria, absorptive, 2 9.8
36 renal cell carcinoma, nonpapillary 9.8
37 hypertension, essential 9.8
38 autosomal recessive disease 9.8
39 adenoid cystic carcinoma 9.8
40 acinar cell carcinoma 9.8
41 pleomorphic adenoma 9.8
42 mucoepidermoid carcinoma 9.8
43 end stage renal disease 9.8
44 nonsyndromic deafness 9.8
45 nonsyndromic hearing loss 9.8
46 myotonia congenita 9.7 CLCNKB CLCNKA
47 diabetes insipidus 9.6 CLCNKB CLCNKA

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:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 sensorineural hearing impairment 31 HP:0000407
4 hypokalemia 31 HP:0002900
5 renal insufficiency 31 HP:0000083
6 motor delay 31 HP:0001270
7 polyhydramnios 31 HP:0001561
8 hyperaldosteronism 31 HP:0000859
9 hyponatremia 31 HP:0002902
10 hyporeflexia 31 HP:0001265
11 premature birth 31 HP:0001622
12 generalized hypotonia 31 HP:0001290
13 edema 31 HP:0000969
14 fetal polyuria 31 HP:0001563
15 renal salt wasting 31 HP:0000127
16 hypernatriuria 31 HP:0012605
17 increased urinary potassium 31 HP:0003081
18 decreased glomerular filtration rate 31 HP:0012213
19 hypochloremia 31 HP:0003113
20 polyuria 31 HP:0000103
21 hypotonia 31 HP:0001252
22 hyperchloriduria 31 HP:0002914
23 hypokalemic hypochloremic metabolic alkalosis 31 HP:0004909

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Prenatal Manifestations Delivery:
premature delivery

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

Metabolic Features:
hypokalemic hypochloremic metabolic alkalosis

Head And Neck Ears:
deafness, sensorineural

Clinical features from OMIM®:

613090 (Updated 20-May-2021)

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
2 Bartter Syndrome, Type 4b, Digenic 29

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

MalaCards organs/tissues related to Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness:

40
Kidney

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

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

# Title Authors PMID Year
1
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. 6 57
18310267 2008
2
Salt wasting and deafness resulting from mutations in two chloride channels. 6 57
15044642 2004
3
Understanding Bartter syndrome and Gitelman syndrome. 57
22282380 2012
4
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 57
9326936 1997
5
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 57
8841184 1996
6
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 61
9463315 1998

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

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys) SNV Pathogenic 7589 rs121909137 GRCh37: 1:16351268-16351268
GRCh38: 1:16024773-16024773
2 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.910C>T (p.Arg304Ter) SNV Pathogenic 997523 GRCh37: 1:16354556-16354556
GRCh38: 1:16028061-16028061
3 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.1801C>T (p.Gln601Ter) SNV Pathogenic 997560 GRCh37: 1:16358742-16358742
GRCh38: 1:16032247-16032247
4 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter) SNV Pathogenic 7590 rs121909138 GRCh37: 1:16353927-16353927
GRCh38: 1:16027432-16027432
5 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.1708del (p.Val570fs) Deletion Pathogenic 1033633 GRCh37: 1:16358289-16358289
GRCh38: 1:16031794-16031794
6 CLCNKA NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) SNV Uncertain significance 587598 rs202069201 GRCh37: 1:16349169-16349169
GRCh38: 1:16022674-16022674
7 LOC106501713 , CLCNKB NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) SNV Uncertain significance 801449 rs755714542 GRCh37: 1:16378216-16378216
GRCh38: 1:16051721-16051721
8 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro) SNV Uncertain significance 548616 rs762119830 GRCh37: 1:16357160-16357160
GRCh38: 1:16030665-16030665
9 CLCNKA NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu) SNV Uncertain significance 638437 rs773206825 GRCh37: 1:16349131-16349131
GRCh38: 1:16022636-16022636
10 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile) SNV Uncertain significance 717468 rs138110172 GRCh37: 1:16354581-16354581
GRCh38: 1:16028086-16028086
11 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) SNV Benign 585697 rs10927887 GRCh37: 1:16351275-16351275
GRCh38: 1:16024780-16024780

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

72
# Symbol AA change Variation ID SNP ID
1 CLCNKA p.Trp80Cys VAR_063074 rs121909137

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 CLCNKB CLCNKA
2
Show member pathways
11.05 CLCNKB CLCNKA
3 10.09 CLCNKB CLCNKA

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 CLCNKB CLCNKA

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 transmembrane transport GO:0034220 9.32 CLCNKB CLCNKA
2 regulation of ion transmembrane transport GO:0034765 9.26 CLCNKB CLCNKA
3 chloride transmembrane transport GO:1902476 9.16 CLCNKB CLCNKA
4 chloride transport GO:0006821 8.96 CLCNKB CLCNKA
5 excretion GO:0007588 8.62 CLCNKB CLCNKA

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 voltage-gated ion channel activity GO:0005244 9.16 CLCNKB CLCNKA
2 chloride channel activity GO:0005254 8.96 CLCNKB CLCNKA
3 voltage-gated chloride channel activity GO:0005247 8.62 CLCNKB CLCNKA

Sources for Bartter Syndrome, Type 4b, Neonatal, 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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