X-linked hereditary sensory and autonomic neuropathy with deafness
Synonyms: 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
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
X-linked hereditary sensory and autonomic neuropathy with deafness?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.