Details of Disease

General Information of Disease (ID: DISHPYPE)

Disease Name Dilated cardiomyopathy 1I
Synonyms
cardiomyopathy, dilated, 1I; CMD1I; cardiomyopathy, dilated, type 1I; familial isolated dilated cardiomyopathy caused by mutation in DES; dilated cardiomyopathy type 1I; DES familial isolated dilated cardiomyopathy
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.
Disease Hierarchy
DISD9P78: Qualitative or quantitative defects of desmin
DISBHDU9: Familial dilated cardiomyopathy
DISHPYPE: Dilated cardiomyopathy 1I
Disease Identifiers
MONDO ID
MONDO_0011482
UMLS CUI
C1858154
OMIM ID
604765
MedGen ID
387998

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
DES OTI09KBW Definitive Autosomal dominant [1]
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References

1 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. Eur J Heart Fail. 2013 Jun;15(6):628-36. doi: 10.1093/eurjhf/hft013. Epub 2013 Jan 24.