Details of Disease

General Information of Disease (ID: DISQ019P)

Disease Name Dilated cardiomyopathy 1CC
Synonyms
cardiomyopathy, dilated, 1CC; familial isolated dilated cardiomyopathy caused by mutation in NEXN; NEXN familial isolated dilated cardiomyopathy; cardiomyopathy, dilated, type 1Cc; dilated cardiomyopathy type 1CC; CMD1CC
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISQ019P: Dilated cardiomyopathy 1CC
Disease Identifiers
MONDO ID
MONDO_0013147
MESH ID
C567733
UMLS CUI
C2751084
OMIM ID
613122
MedGen ID
413929

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
NEXN OTKB0B0H Limited Autosomal dominant [1]
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References

1 Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med. 2009 Nov;15(11):1281-8. doi: 10.1038/nm.2037. Epub 2009 Nov 1.