Details of Disease

General Information of Disease (ID: DISO0CXA)

Disease Name Catecholaminergic polymorphic ventricular tachycardia 5
Synonyms
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness; CPVT5; catecholaminergic polymorphic ventricular tachycardia type 5; catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN; cardiac arrhythmia syndrome, with or without skeletal muscle weakness; TRDN catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia 5; CVPT5
Definition Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.
Disease Hierarchy
DISSAS1A: Catecholaminergic polymorphic ventricular tachycardia
DISO0CXA: Catecholaminergic polymorphic ventricular tachycardia 5
Disease Identifiers
MONDO ID
MONDO_0014191
UMLS CUI
C3809536
OMIM ID
615441
MedGen ID
815866

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
TRDN OTXVE9SF Definitive Autosomal recessive [1]
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References

1 Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. Circulation. 2015 Jun 9;131(23):2051-60. doi: 10.1161/CIRCULATIONAHA.115.015397. Epub 2015 Apr 28.