Details of Disease | DrugMAP

General Information of Disease (ID: DIS0X7HF)

Disease Name	Cardiomyopathy, familial restrictive, 3
Synonyms	RCM3; familial isolated restrictive cardiomyopathy caused by mutation in TNNT2; TNNT2 familial isolated restrictive cardiomyopathy; cardiomyopathy, familial restrictive, type 3; cardiomyopathy, familial restrictive, 3
Definition	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
Disease Hierarchy	DISL4MMU: Familial restrictive cardiomyopathy DIS0X7HF: Cardiomyopathy, familial restrictive, 3
Disease Identifiers	MONDO ID MONDO_0012900 MESH ID C567316 UMLS CUI C2676271 OMIM ID 612422 MedGen ID 382807

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	Autosomal dominant	[1]
TNNT2	TTWAS18	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
TNNT2	OT80NN7R	Strong	Autosomal dominant	[1]
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References

1	Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008 Nov;94(11):1478-84. doi: 10.1136/hrt.2007.134684. Epub 2008 May 8.
2	Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.