Details of Disease | DrugMAP

General Information of Disease (ID: DISBVV0E)

Disease Name	Hypertrophic cardiomyopathy 3
Synonyms	cardiomyopathy, familial hypertrophic, 3; cardiomyopathy familial hypertrophic 3; cardiomyopathy, familial hypertrophic, type 3; TPM1 hypertrophic cardiomyopathy; CMH3; hypertrophic cardiomyopathy caused by mutation in TPM1; cardiomyopathy, hypertrophic, 3; hypertrophic cardiomyopathy type 3; hypertrophic cardiomyopathy 3
Definition	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.
Disease Hierarchy	DISQG2AI: Hypertrophic cardiomyopathy DISQ89HN: Familial hypertrophic cardiomyopathy DISBVV0E: Hypertrophic cardiomyopathy 3
Disease Identifiers	MONDO ID MONDO_0007267 MESH ID C566170 UMLS CUI C1861863 OMIM ID 115196 MedGen ID 349382

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TNNT2	TTWAS18	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNNT2	OT80NN7R	Definitive	Autosomal dominant	[1]
TPM1	OTD73X6R	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. doi: 10.1056/NEJM200012073432304.
2	Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation. 2003 Jul 29;108(4):445-51. doi: 10.1161/01.CIR.0000080896.52003.DF. Epub 2003 Jul 14.