8C21.1 Hereditary sensory and autonomic neuropathy type III
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an autosomal recessive disorder seen primarily in Ashkenazi Jewish children caused by a mutation in the I-kappa B kinase associated protein. It is characterised by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction. Symptoms can include insensitivity to pain and temperature, intact visceral pain, alacrima, hypoactive corneal and tendon reflexes and absence of lingual fungiform papillae.
synonyms
- Hereditary sensory and autonomic neuropathy type III
- Familial dysautonomia
- Riley Day syndrome
- HSAN3 - [Hereditary sensory and autonomic neuropathy type 3]
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