Details of Disease

General Information of Disease (ID: DISAQS5Y)

Disease Name Hypertrophic cardiomyopathy 4
Synonyms
cardiomyopathy, familial hypertrophic, 4, susceptibility to; MYBPC3 hypertrophic cardiomyopathy; hypertrophic cardiomyopathy type 4; familial hypertrophic cardiomyopathy type 4; CMH4; hypertrophic cardiomyopathy caused by mutation in MYBPC3; cardiomyopathy, hypertrophic, 4; cardiomyopathy, familial hypertrophic, 4; cardiomyopathy, familial hypertrophic, type 4; hypertrophic cardiomyopathy 4
Definition An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISAQS5Y: Hypertrophic cardiomyopathy 4
Disease Identifiers
MONDO ID
MONDO_0007268
MESH ID
C566169
UMLS CUI
C1861862
OMIM ID
115197
MedGen ID
350526

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 Definitive Autosomal dominant [1]
MYBPC3 TT9WOBN Definitive Biomarker [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 [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.
2 Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.