Details of Disease

General Information of Disease (ID: DISQHS15)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 39
• Synonyms: autosomal recessive deafness 39; autosomal recessive nonsyndromic deafness caused by mutation in HGF; deafness, autosomal recessive 39; HGF autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 39; autosomal recessive nonsyndromic deafness type 39; DFNB39; deafness, autosomal recessive type 39; autosomal recessive nonsyndromic hearing loss 39
• Definition: An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISQHS15: Autosomal recessive nonsyndromic hearing loss 39
• Disease Identifiers:
  MONDO ID: MONDO_0012003
  MESH ID: C564265
  UMLS CUI: C1842342
  OMIM ID: 608265
  MedGen ID: 374909

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HGF	TT4V2JM	moderate	Biomarker	[1]
HGF	TT4V2JM	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HGF	OTGHUA23	Strong	Autosomal recessive	[2]

References

• [1] Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.Genet Test Mol Biomarkers. 2016 Nov;20(11):660-665. doi: 10.1089/gtmb.2016.0051. Epub 2016 Sep 9.
• [2] HGF and MET mutations in primary and secondary lymphedema. Lymphat Res Biol. 2008;6(2):65-8. doi: 10.1089/lrb.2008.1524.