Details of Disease | DrugMAP

General Information of Disease (ID: DISS47I8)

Disease Name	Hypertrophic cardiomyopathy 13
Synonyms	cardiomyopathy, familial hypertrophic, 13; TNNC1 hypertrophic cardiomyopathy; hypertrophic cardiomyopathy caused by mutation in TNNC1; CMH13; cardiomyopathy, hypertrophic, 13; cardiomyopathy familial hypertrophic 13; hypertrophic cardiomyopathy type 13; cardiomyopathy, familial hypertrophic, type 13
Definition	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.
Disease Hierarchy	DISQG2AI: Hypertrophic cardiomyopathy DISQ89HN: Familial hypertrophic cardiomyopathy DISS47I8: Hypertrophic cardiomyopathy 13
Disease Identifiers	MONDO ID MONDO_0013195 MESH ID C567686 UMLS CUI C2750472 OMIM ID 613243 MedGen ID 442487

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	Autosomal dominant	[1]
TNNC1	TT8RDXP	Strong	Biomarker	[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	Strong	Autosomal dominant	[1]
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References

1	Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol. 2008 Aug;45(2):281-8. doi: 10.1016/j.yjmcc.2008.05.003. Epub 2008 May 11.
2	Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.