Details of Disease

General Information of Disease (ID: DISC2WJ6)

Disease Name Arrhythmogenic right ventricular dysplasia 8
Synonyms
arrhythmogenic right ventricular dysplasia, familial, 8; arrhythmogenic right ventricular cardiomyopathy 8; arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP; arrhythmogenic right ventricular dysplasia type 8; ARVC8; ARVD8; familial arrhythmogenic right ventricular dysplasia 8; arrhythmogenic right ventricular dysplasia 8; arrhythmogenic right ventricular dysplasia, familial, type 8; DSP arrhythmogenic right ventricular cardiomyopathy
Definition Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.
Disease Hierarchy
DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
DISC2WJ6: Arrhythmogenic right ventricular dysplasia 8
Disease Identifiers
MONDO ID
MONDO_0011831
MESH ID
C564400
UMLS CUI
C1843896
OMIM ID
607450
MedGen ID
336069

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
DSP OTB2MOP8 Definitive Autosomal dominant [1]
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References

1 International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework. Circ Genom Precis Med. 2021 Jun;14(3):e003273. doi: 10.1161/CIRCGEN.120.003273. Epub 2021 Apr 8.