Details of Disease

General Information of Disease (ID: DISPKF56)

Disease Name Dilated cardiomyopathy 1L
Synonyms
cardiomyopathy, dilated, 1L; familial isolated dilated cardiomyopathy caused by mutation in SGCD; cardiomyopathy, dilated, type 1L; CMD1L; dilated cardiomyopathy type 1L; SGCD familial isolated dilated cardiomyopathy
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISTXLNV: Qualitative or quantitative defects of delta-sarcoglycan
DISPKF56: Dilated cardiomyopathy 1L
Disease Identifiers
MONDO ID
MONDO_0011702
UMLS CUI
C1847667
OMIM ID
606685
MedGen ID
335735

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
SGCD OTRBL3NQ Disputed 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.