Orphanet: Deafness infertility syndrome
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Deafness-infertility syndrome

Disease definition

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

ORPHA:94064

Classification level: Disorder
  • Synonym(s):
    • DIS
    • Hearing loss-infertility syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: Q93.5
  • OMIM: 611102
  • UMLS: C1970187
  • MeSH: -
  • GARD: 11911
  • MedDRA: -

Summary

Epidemiology

It has been reported in fewer than 5 families.

Etiology

Male infertility is caused by abnormal spermatozoid morphology and motility. DIS is due to a contiguous gene deletion at chromosome 15q15.3 including 2 genes CATSPER2 and STRC, and is inherited in an autosomal recessive manner: affected males are homozygous for the deletion, parents are asymptomatic carriers and homozygous females are deaf but not infertile.

- Last update: September 2011

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