Details of Disease

General Information of Disease (ID: DISSS40W)

Disease Name Cardiomyopathy, dilated, 2G
Synonyms cardiomyopathy, dilated, 2G; CMD2G
Definition
A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISSS40W: Cardiomyopathy, dilated, 2G
Disease Identifiers
MONDO ID
MONDO_0030887
UMLS CUI
C5676995
OMIM ID
619897
MedGen ID
1801983

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
LMOD2 OTFXHQFL Strong Autosomal recessive [1]
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References

1 Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy. Sci Adv. 2019 Sep 4;5(9):eaax2066. doi: 10.1126/sciadv.aax2066. eCollection 2019 Sep.