Catalog

Hereditary sensory and autonomic neuropathy type IIB

No MMS code

Link to WHO Definition

Hereditary sensory and autonomic neuropathy type IIB – http://id.who.int/icd/entity/1850246922

HSAN Type IIB is an autosomal recessive disorder due to mutations in the FAM134B gene. It presents in childhood with severe loss of pain and temperature sensations, ulcero-mutilations and autonomic dysfunction