Details of Disease

General Information of Disease (ID: DISV0987)

Disease Name Dilated cardiomyopathy 1M
Synonyms
cardiomyopathy, dilated, 1M; familial isolated dilated cardiomyopathy caused by mutation in CSRP3; CMD1M; dilated cardiomyopathy type 1M; CSRP3 familial isolated dilated cardiomyopathy; cardiomyopathy, dilated, type 1M
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISV0987: Dilated cardiomyopathy 1M
Disease Identifiers
MONDO ID
MONDO_0011840
UMLS CUI
C1843808
OMIM ID
607482
MedGen ID
334498

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
CSRP3 OTECBJMV Limited 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.