Details of Disease

General Information of Disease (ID: DISO5CEK)

Disease Name Dilated cardiomyopathy 1BB
Synonyms
cardiomyopathy, dilated, 1BB; dilated cardiomyopathy type 1BB; DSG2 familial isolated dilated cardiomyopathy; familial isolated dilated cardiomyopathy caused by mutation in DSG2; CMD1BB; cardiomyopathy, dilated, type 1Bb
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISO5CEK: Dilated cardiomyopathy 1BB
Disease Identifiers
MONDO ID
MONDO_0013030
MESH ID
C567877
UMLS CUI
C2752072
OMIM ID
612877
MedGen ID
414552

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
DSG2 OTJPB2TO Limited Autosomal recessive [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.