Details of Disease

General Information of Disease (ID: DISQG4EA)

Disease Name Long QT syndrome 3
Synonyms
long QT syndrome 2/3, digenic; long QT syndrome 3, acquired, susceptibility to; long QT syndrome 3/6, digenic; long QT syndrome 3; long QT syndrome caused by mutation in SCN5A; long QT syndrome type 3; LQT3; SCN5A long QT syndrome
Definition
An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
Disease Hierarchy
DISRNNCY: Familial long QT syndrome
DISQG4EA: Long QT syndrome 3
Disease Identifiers
MONDO ID
MONDO_0011377
UMLS CUI
C1859062
OMIM ID
603830
MedGen ID
349087

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
KCNH2 TTQ6VDM Strong Biomarker [1]
KCNQ1 TT846HF Strong Biomarker [1]
SCN5A TTZOVE0 Definitive Autosomal dominant [2]
SCN5A TTZOVE0 Definitive Genetic Variation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN5A OTGYZWR6 Definitive Autosomal dominant [2]
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References

1 Mexiletine Shortens the QT Interval in Patients With Potassium Channel-Mediated Type 2 Long QT Syndrome.Circ Arrhythm Electrophysiol. 2019 May;12(5):e007280. doi: 10.1161/CIRCEP.118.007280.
2 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.
3 The efficacy of Ranolazine on E1784K is altered by temperature and calcium.Sci Rep. 2018 Feb 26;8(1):3643. doi: 10.1038/s41598-018-22033-1.