Details of Disease

General Information of Disease (ID: DISXZPMT)

Disease Name Dilated cardiomyopathy 1X
Synonyms
cardiomyopathy, dilated, 1X; cardiomyopathy, dilated, with mild or No proximal muscle weakness; dilated cardiomyopathy type 1X; FKTN familial isolated dilated cardiomyopathy; cardiomyopathy, dilated, type 1X; CMD1X; dilated cardiomyopathy with mild or no proximal muscle weakness; familial isolated dilated cardiomyopathy caused by mutation in FKTN
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISXZPMT: Dilated cardiomyopathy 1X
Disease Identifiers
MONDO ID
MONDO_0012704
MESH ID
C566907
UMLS CUI
C1969024
OMIM ID
611615
MedGen ID
370583

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
FKTN OTQ9GCXL 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.