Details of Disease

General Information of Disease (ID: DISSE4S5)

Disease Name Long QT syndrome 6
Synonyms long QT syndrome 6, acquired, susceptibility to; long QT syndrome 3/6, digenic; KCNE2 long QT syndrome; long QT syndrome type 6; long QT syndrome caused by mutation in KCNE2; LQT6; long QT syndrome 6
Definition Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.
Disease Hierarchy
DISRNNCY: Familial long QT syndrome
DISSE4S5: Long QT syndrome 6
Disease Identifiers
MONDO ID
MONDO_0013370
MESH ID
C566333
UMLS CUI
C3150953
OMIM ID
613693
MedGen ID
462303

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
KCNE2 OTUO214Y Limited Autosomal dominant [1]
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References

1 The KCNE2 potassium channel ancillary subunit is essential for gastric acid secretion. J Biol Chem. 2006 Aug 18;281(33):23740-7. doi: 10.1074/jbc.M604155200. Epub 2006 Jun 5.