Details of Disease

General Information of Disease (ID: DISCTEAT)

Disease Name Hypertrophic cardiomyopathy 20
Synonyms
cardiomyopathy, familial hypertrophic, 20; cardiomyopathy, familial hypertrophic, type 20; hypertrophic cardiomyopathy type 20; CMH20; cardiomyopathy familial hypertrophic 20; cardiomyopathy, hypertrophic, 20; hypertrophic cardiomyopathy caused by mutation in NEXN; NEXN hypertrophic cardiomyopathy
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISCTEAT: Hypertrophic cardiomyopathy 20
Disease Identifiers
MONDO ID
MONDO_0013477
UMLS CUI
C3151267
OMIM ID
613876
MedGen ID
462617

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
NEXN OTKB0B0H Limited Autosomal dominant [1]
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References

1 Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2010 Nov 12;87(5):687-93. doi: 10.1016/j.ajhg.2010.10.002. Epub 2010 Oct 21.