Details of Disease

General Information of Disease (ID: DISI10RO)

Disease Name Dilated cardiomyopathy 1Z
Synonyms
cardiomyopathy, dilated, 1Z; familial isolated dilated cardiomyopathy caused by mutation in TNNC1; dilated cardiomyopathy type 1Z; cardiomyopathy, dilated, type 1Z; TNNC1 familial isolated dilated cardiomyopathy; CMD1Z
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISI10RO: Dilated cardiomyopathy 1Z
Disease Identifiers
MONDO ID
MONDO_0012745
MESH ID
C567506
UMLS CUI
C2678475
OMIM ID
611879
MedGen ID
395631

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
TNNC1 TT8RDXP Strong Biomarker [1]
TNNC1 TT8RDXP 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
TNNC1 OT9A0FL4 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 A novel mutant cardiac troponin C disrupts molecular motions critical for calcium binding affinity and cardiomyocyte contractility. Biophys J. 2008 May 1;94(9):3577-89. doi: 10.1529/biophysj.107.112896. Epub 2008 Jan 22.