Details of Disease

General Information of Disease (ID: DIS56S7C)

Disease Name Catecholaminergic polymorphic ventricular tachycardia 4
Synonyms
CPVT4; ventricular tachycardia, catecholaminergic polymorphic, 4; CVPT4; ventricular tachycardia, catecholaminergic polymorphic, type 4; catecholaminergic polymorphic ventricular tachycardia type 4; catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1; catecholaminergic polymorphic ventricular tachycardia 4; CALM1 catecholaminergic polymorphic ventricular tachycardia
Definition Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.
Disease Hierarchy
DISSAS1A: Catecholaminergic polymorphic ventricular tachycardia
DIS56S7C: Catecholaminergic polymorphic ventricular tachycardia 4
Disease Identifiers
MONDO ID
MONDO_0013966
UMLS CUI
C3554047
OMIM ID
614916
MedGen ID
766961

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
CALM1 OTNYA92F Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 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.