Hereditary sensory and autonomic neuropathy type III (Q41468)

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.