Details of Disease | DrugMAP

General Information of Disease (ID: DISSAS1A)

Disease Name	Catecholaminergic polymorphic ventricular tachycardia
Synonyms	stress-induced polymorphic ventricular tachycardia; catecholamine-induced polymorphic ventricular tachycardia; familial polymorphic ventricular tachycardia; syncopal paroxysmal tachycardia; polymorphic catecholergic ventricular tachycardia; CPVT; double tachycardia induced by catecholamines; ventricular tachycardia, catecholaminergic polymorphic; malignant paroxysmal ventricular tachycardia; multifocal ventricular premature beats; bidirectional tachycardia induced by catecholamine; catecholaminergic polymorphic ventricular tachycardia
Definition	Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
Disease Hierarchy	DISYG7IE: Ventricular tachycardia, familial DISCPO8T: Polymorphic ventricular tachycardia DISLKUNL: Heart arrhythmia DISSAS1A: Catecholaminergic polymorphic ventricular tachycardia
Disease Identifiers	MONDO ID MONDO_0017990 MESH ID C536334 UMLS CUI C5574922 MedGen ID 1803763 Orphanet ID 3286 SNOMED CT ID 419671004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNJ2	TTH7UO3	Disputed	Autosomal dominant	[1]
SCN5A	TTZOVE0	Disputed	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANK2	OTWB4R1Y	Disputed	Autosomal dominant	[1]
KCNJ2	OT2OQEZS	Disputed	Autosomal dominant	[1]
PKP2	OTJOVF68	Disputed	Autosomal dominant	[1]
SCN5A	OTGYZWR6	Disputed	Autosomal dominant	[1]
CALM2	OTNYA92F	Strong	Autosomal dominant	[2]
CASQ2	OT09MNQ8	Definitive	Autosomal recessive	[1]
RYR2	OT0PF19E	Definitive	Autosomal dominant	[1]
TECRL	OTXLSNCP	Definitive	Autosomal recessive	[1]
TRDN	OTXVE9SF	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------


⏷ Show the Full List of 9 DOT(s)

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.