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X-linked hereditary sensory and autonomic neuropathy with deafness

Disease definition

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.

ORPHA:139583

Classification level: Disorder
  • Synonym(s):
    • X-linked HSAN with deafness
    • X-linked auditory neuropathy with peripheral sensory neuropathy type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: G60.8
  • OMIM: 300614
  • UMLS: -
  • MeSH: -
  • GARD: 12731
  • MedDRA: -

Summary

Epidemiology

It has been described in a large five-generation Chinese family.

Clinical description

Onset occurred in the second decade of life (with an average age of onset of 13 years) with mild to severe hearing impairment due degeneration of the auditory nerve (type 1 auditory neuropathy), followed by late-onset of a diffuse and progressive peripheral sensory neuropathy.

Etiology

The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3.

Genetic counseling

Transmission was X-linked recessive.

- Last update: January 2009

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