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

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]

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.