Details of Disease

General Information of Disease (ID: DIS1QFTR)

Disease Name Left ventricular noncompaction 10
Synonyms
cardiomyopathy, dilated, 1Mm; LVNC10; left ventricular noncompaction caused by mutation in MYBPC3; left ventricular noncompaction type 10; left ventricular noncompaction 10; MYBPC3 left ventricular noncompaction
Definition Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.
Disease Hierarchy
DISJ4QEG: Left ventricular noncompaction
DIS1QFTR: Left ventricular noncompaction 10
Disease Identifiers
MONDO ID
MONDO_0014163
UMLS CUI
C3715165
OMIM ID
615396
MedGen ID
811617

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MYBPC3 TT9WOBN Strong Biomarker [1]
MYBPC3 TT9WOBN Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYBPC3 OT8IG00B Definitive Autosomal dominant [2]
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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.
2 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.