Details of Disease

General Information of Disease (ID: DISS01ZQ)

Disease Name Cardiomyopathy, dilated, 2E
Synonyms cardiomyopathy, dilated, 2E; CMD2E
Definition
A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISS01ZQ: Cardiomyopathy, dilated, 2E
Disease Identifiers
MONDO ID
MONDO_0030366
UMLS CUI
C5561970
OMIM ID
619492
MedGen ID
1794180

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
JPH2 OTL9YH7V Limited Unknown [1]
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References

1 Mutation in JPH2 cause dilated cardiomyopathy. Clin Genet. 2016 Nov;90(5):468-469. doi: 10.1111/cge.12825. Epub 2016 Jul 29.