x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

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 HSAN with hearing loss
    • X-linked auditory neuropathy with peripheral sensory neuropathy type 1
    • X-linked hereditary sensory and autonomic neuropathy with hearing loss
  • 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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.