Details of Disease

General Information of Disease (ID: DIS6I3UN)

• Disease Name: Hearing impairment and infertile male syndrome
• Synonyms: hearing impairment and infertile male syndrome; HIIMS
• Definition: A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.|There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958).
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS6I3UN: Hearing impairment and infertile male syndrome

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] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.