Details of Disease

General Information of Disease (ID: DISL4MMU)

Disease Name Familial restrictive cardiomyopathy
Synonyms hereditary restrictive cardiomyopathy
Definition An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DISFAF31: Restrictive cardiomyopathy
DISBA1TN: Familial cardiomyopathy
DISL4MMU: Familial restrictive cardiomyopathy
Disease Identifiers
MONDO ID
MONDO_0016340
UMLS CUI
C0340429
MedGen ID
468561
Orphanet ID
217635
SNOMED CT ID
233878008

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
MYPN OTHTOFDU Strong Genetic Variation [1]
------------------------------------------------------------------------------------

References

1 Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.J Am Coll Cardiol. 2014 Dec 30;64(25):2765-76. doi: 10.1016/j.jacc.2014.09.071.