Details of Disease

General Information of Disease (ID: DISXDNMV)

Disease Name Left ventricular noncompaction 8
Synonyms
cardiomyopathy, dilated, 1Ll; LVNC8; left ventricular noncompaction type 8; familial isolated dilated cardiomyopathy caused by mutation in PRDM16; PRDM16 familial isolated dilated cardiomyopathy; left ventricular noncompaction 8
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.|This appears in the series 115200 because of an included entity.
Disease Hierarchy
DISJ4QEG: Left ventricular noncompaction
DISXDNMV: Left ventricular noncompaction 8
Disease Identifiers
MONDO ID
MONDO_0014152
UMLS CUI
C3809288
OMIM ID
615373
MedGen ID
815618

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
PRDM16 OT0BGA27 Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.