Details of Disease

General Information of Disease (ID: DISAJ57O)

Disease Name Hypertrophic cardiomyopathy 25
Synonyms
cardiomyopathy, familial hypertrophic, 25; cardiomyopathy, familial hypertrophic, type 25; hypertrophic cardiomyopathy caused by mutation in TCAP; TCAP hypertrophic cardiomyopathy; cardiomyopathy, hypertrophic, 25; CMH25; Tcap hypertrophic cardiomyopathy; cardiomyopathy familial hypertrophic 25; hypertrophic cardiomyopathy type 25
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISQG2AI: Hypertrophic cardiomyopathy
DIS1NYL8: Qualitative or quantitative defects of telethonin
DISQ89HN: Familial hypertrophic cardiomyopathy
DISAJ57O: Hypertrophic cardiomyopathy 25
Disease Identifiers
MONDO ID
MONDO_0011843
UMLS CUI
C4225408
OMIM ID
607487
MedGen ID
895360

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TCAP OTQQMJ94 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002 Dec 27;111(7):943-55. doi: 10.1016/s0092-8674(02)01226-6.