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GENATLAS PHENOTYPE
last update : 05-09-2011
Symbol HNPP
Location 17p12-p11.2
Name neuropathy, hereditary liability to pressure palsies
Other name(s)
  • tomaculous neuropathy
  • polyneuropathy, familial recurrent
    • Corresponding gene PMP22
    Other symbol(s) CIDP, DEL17P12
    Main clinical features
  • recurrent focal pressure nerve palsies such as carpal tunnel syndrome wih prolongation of median nerve conduction latency
    • Genetic determination autosomal dominant
    genomic disorder
    chromosomal
    Related entries . including familial recurrent polyneuropathy (chronic inflammatory demyelinating palsies, polyradiculoneuropathy, CIDP) . including neuropathic scapuloperoneal syndrome (Davidenkow's syndrome), (OMIM 181400)
    Function/system disorder neurology
    Type disease
    Gene product
    Name peripheral myelin protein -22
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency 1.5 Mb deletion flanked by low copy repeats, in 80 percent of patients
    various types     point mutation, usually a frameshift in 20 percent of patients
    Remark(s)
  • duplication of the same region causes CMT1A disease
  • PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance (PMID: 21194947))