Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 07-12-2009
Symbol HSAN2B
Location 5p15.1
Name hereditary sensory and autonomic neuropathy type IIB
Corresponding gene FAM134B
Main clinical features
  • onset in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis
  • amputations of the hands and feet were common; sensory function was severely impaired, and nerve conduction studies showed axonal sensory, and sometimes mild motor, neuropathy, primarily in the lower limbs; sural nerve biopsies, confirmed axonal neuropathy; autonomic dysfunction included hyperhidrosis, urinary incontinence, and slow pupillary light response
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease