Details of Disease

General Information of Disease (ID: DISJ9B0B)

Disease Name Cardiomyopathy, dilated, 2D
Synonyms CMD2D; cardiomyopathy, dilated, 2D
Definition
A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISJ9B0B: Cardiomyopathy, dilated, 2D
Disease Identifiers
MONDO ID
MONDO_0030300
UMLS CUI
C5543535
OMIM ID
619371
MedGen ID
1782612

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
RPL3L OTTNH7PK Strong Autosomal recessive [1]
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References

1 Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum Genet. 2020 Nov;139(11):1443-1454. doi: 10.1007/s00439-020-02188-6. Epub 2020 Jun 8.