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GENATLAS PHENOTYPE
last update : 10/07/2006
Symbol HSAN4
Location 1q23.1
Name hereditary sensory and autonomic neuropathy, type IV
Other name(s)
  • insensitivity to pain, congenital, with anhidrosis
  • familial dysautonomia, type II
  • Corresponding gene NTRK1
    Other symbol(s) CIPA
    Main clinical features
  • loss of small diameter unmyelinated fibers, congenital insensibility to pain with anhidrosis, characterized by loss of pain and sensation with anhidrosis often associated with recurrent episodes of unexplained fever, it can result in patient mortality
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name TRKA/NGF receptor gene (NTRK1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift     a frameshift mutation at codon 548 in 50p100 of patients
    Remark(s)