Details of Disease

General Information of Disease (ID: DISFOPCJ)

Disease Name Hypertrophic cardiomyopathy 1
Synonyms
Cmh; ventricular Hypertrophy, hereditary; hypertrophic subaortic stenosis, idiopathic; asymmetric septal Hypertrophy; cardiomyopathy, familial hypertrophic, 1; hypertrophic cardiomyopathy caused by mutation in MYH7; cardiomyopathy, familial hypertrophic 1; CMH1; cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant; cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant; cardiomyopathy, familial hypertrophic, type 1; hypertrophic cardiomyopathy type 1; hypertrophic cardiomyopathy 1; cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant; MYH7 hypertrophic cardiomyopathy
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISFOPCJ: Hypertrophic cardiomyopathy 1
Disease Identifiers
MONDO ID
MONDO_0008647
MESH ID
C566005
UMLS CUI
C3495498
OMIM ID
192600
MedGen ID
501195

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MYLK2 TTHLGB2 Limited Autosomal dominant [1]
CACNA1C TTZIFHC Strong Genetic Variation [2]
MYBPC3 TT9WOBN Strong CausalMutation [3]
MYH7 TTNIMDP Strong Genetic Variation [3]
MYLK2 TTHLGB2 Strong Biomarker [4]
TNNT2 TTWAS18 Strong Genetic Variation [5]
MYH7 TTNIMDP Definitive Autosomal dominant [1]
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⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAV3 OTWSFDB4 Limited Autosomal dominant [6]
MYH6 OT3YNCH1 Limited CausalMutation [7]
MYLK2 OTVISMUK Limited Autosomal dominant [1]
MYL3 OTKD3RSX Strong Genetic Variation [8]
MYH7 OT4Z9T8N 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 Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.Circ Arrhythm Electrophysiol. 2015 Oct;8(5):1122-32. doi: 10.1161/CIRCEP.115.002745. Epub 2015 Aug 7.
3 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
4 Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.
5 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8. doi: 10.1038/gim.2014.205. Epub 2015 Jan 22.
6 Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2004 Jan 2;313(1):178-84. doi: 10.1016/j.bbrc.2003.11.101.
7 Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.Cardiovasc Res. 2013 Aug 1;99(3):432-41. doi: 10.1093/cvr/cvt119. Epub 2013 May 13.
8 Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting. Cardiovasc Res. 2012 Mar 1;93(3):390-6. doi: 10.1093/cvr/cvr320. Epub 2011 Nov 30.