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catecholaminergic polymorphic ventricular tachycardia 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.
Uniprot Description An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. Some patients have muscle weakness. CPVT5 inheritance is autosomal recessive.
Disease Ontology Description A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22.
Mondo Term and Equivalent IDs
MONDO:0014191:  catecholaminergic polymorphic ventricular tachycardia 5
UMLS:C3809536: