Details of Disease

General Information of Disease (ID: DISXZN77)

• Disease Name: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
• Synonyms: progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome; progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome; progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome
• Definition: Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.|Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this
• Disease Hierarchy:
  DISQG2AI: Hypertrophic cardiomyopathy
  DISXZN77: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0016424
  UMLS CUI: C4304831
  MedGen ID: 930500
  Orphanet ID: 228012
  SNOMED CT ID: 719272007

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
MYO6	OTJQYRC7	Supportive	Autosomal dominant	[1]

References

• [1] Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). J Med Genet. 2004 Apr;41(4):309-14. doi: 10.1136/jmg.2003.011973.