Details of Disease

General Information of Disease (ID: DIS9YDCO)

Disease Name Dilated cardiomyopathy 1DD
Synonyms
cardiomyopathy, dilated, 1DD; familial isolated dilated cardiomyopathy caused by mutation in RBM20; RBM20 familial isolated dilated cardiomyopathy; dilated cardiomyopathy type 1DD; CMD1DD; cardiomyopathy, dilated, type 1Dd
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DIS9YDCO: Dilated cardiomyopathy 1DD
Disease Identifiers
MONDO ID
MONDO_0013168
MESH ID
C567725
UMLS CUI
C2750995
OMIM ID
613172
MedGen ID
416441

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
RBM20 OTOQZNKS Definitive Autosomal dominant [1]
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References

1 Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circ Heart Fail. 2019 Mar;12(3):e005371. doi: 10.1161/CIRCHEARTFAILURE.118.005371.