Details of Disease

General Information of Disease (ID: DISJPZLJ)

Disease Name Dilated cardiomyopathy 1KK
Synonyms
cardiomyopathy, familial hypertrophic, 22; cardiomyopathy, dilated, 1KK; cardiomyopathy, familial restrictive, 4; dilated cardiomyopathy type 1KK; dilated cardiomyopathy caused by mutation in MYPN; cardiomyopathy, dilated, type 1Kk; CMD1KK; cardiomyopathy, hypertrophic, 22; MYPN dilated cardiomyopathy
Definition Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISX608J: Dilated cardiomyopathy
DISL4MMU: Familial restrictive cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISJPZLJ: Dilated cardiomyopathy 1KK
Disease Identifiers
MONDO ID
MONDO_0014100
UMLS CUI
C3714995
OMIM ID
615248
MedGen ID
811544

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 Limited Autosomal dominant [1]
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References

1 Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.