Details of Disease

General Information of Disease (ID: DISYL3CY)

Disease Name Dilated cardiomyopathy 1D
Synonyms
cardiomyopathy, dilated, 1D; left ventricular noncompaction 6; TNNT2 familial isolated dilated cardiomyopathy; dilated cardiomyopathy type 1D; cardiomyopathy, dilated, type 1D; CMD1D; familial isolated dilated cardiomyopathy caused by mutation in TNNT2; dilated cardiomyopathy 1D
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
Disease Hierarchy
DISJ4QEG: Left ventricular noncompaction
DISYL3CY: Dilated cardiomyopathy 1D
Disease Identifiers
MONDO ID
MONDO_0011095
MESH ID
C563306
UMLS CUI
C1832243
OMIM ID
601494
MedGen ID
316943

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TNNT2 TTWAS18 Strong Biomarker [1]
TNNT2 TTWAS18 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TNNT2 OT80NN7R Definitive Autosomal dominant [2]
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References

1 Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.
2 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.