Details of Disease

General Information of Disease (ID: DISEO5RL)

Disease Name Bartter disease type 4B
Synonyms
Bartter syndrome, type 4B, neonatal, with sensorineural deafness; Bartter syndrome, infantile, with sensorineural deafness; neonatal Bartter syndrome type 4B with sensorineural deafness; Bartter syndrome, type 4b, digenic; Bartter syndrome, type 4B; Bartter disease type 4B; BARTS4B
Definition A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.
Disease Hierarchy
DISH9V6T: Bartter syndrome type 4
DISEO5RL: Bartter disease type 4B
Disease Identifiers
MONDO ID
MONDO_0000909
UMLS CUI
C4310805
OMIM ID
613090
MedGen ID
934772

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLCNKA TT823N1 Moderate Unknown [1]
CLCNKA TT823N1 Strong Genetic Variation [2]
CLCNKB TTR68GQ Strong Autosomal recessive [2]
CLCNKB TTR68GQ Strong Biomarker [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCNKA OT7Q0RI9 Moderate Unknown [1]
CLCNKB OTMIG14Q Strong Autosomal recessive [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944.
3 A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene.Iran J Pediatr. 2013 Feb;23(1):89-94.