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long QT syndrome 3

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Mondo Term and Equivalent IDs
MONDO:0011377:  long QT syndrome 3
GARD:0003286: 
MESH:C565840: 
NCIT:C137959: 
UMLS:C1859062: 
UMLS:C2931401: