Details of Disease | DrugMAP

General Information of Disease (ID: DISXFDU7)

Disease Name	Arrhythmogenic right ventricular dysplasia 5
Synonyms	arrhythmogenic right ventricular dysplasia, familial, 5; arrhythmogenic right ventricular dysplasia, familial, type 5; arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43; TMEM43 arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy 5; arrhythmogenic right ventricular dysplasia 5; ARVC5; arrhythmogenic right ventricular dysplasia type 5; familial arrhythmogenic right ventricular dysplasia 5; ARVD5
Definition	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.
Disease Hierarchy	DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia DISXFDU7: Arrhythmogenic right ventricular dysplasia 5
Disease Identifiers	MONDO ID MONDO_0011459 MESH ID C565776 UMLS CUI C1858379 OMIM ID 604400 MedGen ID 346805

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RPSA	TTLUW5B	Definitive	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TMEM43	OTM9RS9G	Definitive	Autosomal dominant	[2]
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References

1	Lamr1 functional retroposon causes right ventricular dysplasia in mice.Nat Genet. 2004 Feb;36(2):123-30. doi: 10.1038/ng1294. Epub 2004 Jan 18.
2	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.