Details of Disease

General Information of Disease (ID: DISX7BWE)

Disease Name Dilated cardiomyopathy 1G
Synonyms
cardiomyopathy, dilated, 1G; familial isolated dilated cardiomyopathy caused by mutation in TTN; cardiomyopathy, dilated, type 1G; TTN familial isolated dilated cardiomyopathy; dilated cardiomyopathy type 1G; CMD1G
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISDHBZ4: Autosomal dominant titinopathy
DISX7BWE: Dilated cardiomyopathy 1G
Disease Identifiers
MONDO ID
MONDO_0011400
MESH ID
C565824
UMLS CUI
C1858763
OMIM ID
604145
MedGen ID
347714

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
TTN OT0LZ058 Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

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.