Details of Disease

General Information of Disease (ID: DIS1P51S)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 2
• Synonyms: neurosensory nonsyndromic recessive deafness 2; deafness, autosomal recessive type 2; MYO7A autosomal recessive nonsyndromic deafness; autosomal recessive deafness 2; autosomal recessive nonsyndromic deafness caused by mutation in MYO7A; DFNB2; autosomal recessive nonsyndromic deafness type 2; autosomal recessive nonsyndromic deafness 2; deafness, autosomal recessive 2
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DIS1P51S: Autosomal recessive nonsyndromic hearing loss 2
• Disease Identifiers:
  MONDO ID: MONDO_0010807
  MESH ID: C564007
  UMLS CUI: C1838701
  OMIM ID: 600060
  MedGen ID: 325485

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COCH	OTBEHD89	Strong	Genetic Variation	[1]
DIAPH1	OTZBYPLH	Strong	Genetic Variation	[1]
STRC	OT3JQYVJ	Strong	Biomarker	[1]
TECTA	OT5E0NE2	Strong	Genetic Variation	[1]
MYO7A	OTBZSPEL	Definitive	Autosomal recessive	[2]

References

• [1] Hereditary deafness and phenotyping in humans.Br Med Bull. 2002;63:73-94. doi: 10.1093/bmb/63.1.73.
• [2] The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet. 1997 Jun;16(2):191-3. doi: 10.1038/ng0697-191.