Details of Disease

General Information of Disease (ID: DISLGA2M)

Disease Name Hypertrophic cardiomyopathy 2
Synonyms
cardiomyopathy, familial hypertrophic, 2; CMH2; hypertrophic cardiomyopathy 2; familial hypertrophic cardiomyopathy type 2; hypertrophic cardiomyopathy caused by mutation in TNNT2; hypertrophic cardiomyopathy type 2; cardiomyopathy, hypertrophic, 2; cardiomyopathy, familial hypertrophic, type 2; cardiomyopathy familial hypertrophic 2; TNNT2 hypertrophic cardiomyopathy
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISLGA2M: Hypertrophic cardiomyopathy 2
Disease Identifiers
MONDO ID
MONDO_0007266
MESH ID
C566171
UMLS CUI
C1861864
OMIM ID
115195
MedGen ID
349383

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
TNNT2 TTWAS18 Strong Biomarker [1]
TNNT2 TTWAS18 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
TNNT2 OT80NN7R 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.