This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, 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.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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Designation Type
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Code Flag
3318113010
X-linked hereditary sensory and autonomic neuropathy with deafness
Active
Synonym
false
false
3318114016
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
Active
Synonym
false
false
3318115015
X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness