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X-linked hereditary sensory and autonomic neuropathy with deafness
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
ORPHA:139583Classification level: Disorder
- 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: -
It has been described in a large five-generation Chinese family.
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.
The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3.
Transmission was X-linked recessive.