Details of Disease

General Information of Disease (ID: DISE2ZR1)

Disease Name Dilated cardiomyopathy 1E
Synonyms
CDCD2; familial isolated dilated cardiomyopathy caused by mutation in SCN5A; cardiomyopathy, dilated, type 1E; dilated cardiomyopathy with conduction defect 2; cardiomyopathy, dilated, with conduction defect 2; CMD1E; cardiomyopathy, dilated, with conduction disorder and arrhythmia; cardiomyopathy dilated with conduction defect type 2; dilated cardiomyopathy with conduction disorder and arrhythmia; cardiomyopathy, dilated, 1E; SCN5A familial isolated dilated cardiomyopathy; dilated cardiomyopathy type 1E
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISBHDU9: Familial dilated cardiomyopathy
DISE2ZR1: Dilated cardiomyopathy 1E
Disease Identifiers
MONDO ID
MONDO_0011003
MESH ID
C563384
UMLS CUI
C1832680
OMIM ID
601154
MedGen ID
331341

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
SCN5A TTZOVE0 Definitive Autosomal dominant [1]
SCN5A TTZOVE0 Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN5A OTGYZWR6 Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.