Details of Disease

General Information of Disease (ID: DISNYNXY)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 32
• Synonyms: deafness, autosomal recessive type 105; CDC14A autosomal recessive nonsyndromic deafness; deafness, autosomal recessive 32, with or without immotile sperm; deafness, autosomal recessive 105; autosomal recessive nonsyndromic deafness 32; autosomal recessive deafness 32; autosomal recessive nonsyndromic deafness caused by mutation in CDC14A; autosomal recessive deafness 105; DFNB32; autosomal recessive nonsyndromic deafness type 32; deafness, autosomal recessive 32; autosomal recessive nonsyndromic deafness 105; autosomal recessive nonsyndromic deafness type 105; DFNB105
• Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISNYNXY: Autosomal recessive nonsyndromic hearing loss 32
• Disease Identifiers:
  MONDO ID: MONDO_0012091
  MESH ID: C563884
  UMLS CUI: C1837608
  OMIM ID: 608653
  MedGen ID: 373370

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
CDC14A	OTL10OY6	Strong	Autosomal recessive	[1]

References

• [1] CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440.