Details of Disease

General Information of Disease (ID: DISUEZHY)

Disease Name Bartter disease type 4A
Synonyms
sensorineural deafness with mild renal dysfunction; Bartter syndrome, neonatal, with sensorineural deafness; Bartter syndrome, type 4A, neonatal, with sensorineural deafness; Bartter syndrome, infantile, with sensorineural deafness; Bartter syndrome, type 4A; BSND Bartter syndrome; BSND; Bartter syndrome type 4a; BARTS4A; Bartter disease type 4a; Bartter syndrome caused by mutation in BSND; neonatal Bartter syndrome with sensorineural deafness
Definition Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.
Disease Hierarchy
DISH9V6T: Bartter syndrome type 4
DIS7D44B: Bartter syndrome
DISUEZHY: Bartter disease type 4A
Disease Identifiers
MONDO ID
MONDO_0011242
UMLS CUI
C1865270
OMIM ID
602522
MedGen ID
355430
SNOMED CT ID
717791000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BSND OTYWZWPD Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.