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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-05-2010
Symbol CMTX5
Location Xq22.3
Name Charcot-Marie-Tooth disease, type 5
Other name(s)
  • optic atrophy, polyneuropathy, and deafness
  • Rosenberg-Chutorian syndrome
  • Corresponding gene PRPS1
    Main clinical features
  • optic atrophy, deafness, and polyneuropathy, early-onset hearing loss, lower leg weakness and atrophy beginning in childhood, and progressive loss of vision beginning with optic atrophy at about age 20 years
  • hearing loss characterized as sensorineural and prelingual, progressive visual impairment from optic neuropathy at 10 years of age and peripheral neuropathy, with mixed features of segmental demyelination and axonal loss
  • without mental retardation or recurrent infections
  • Genetic determination sex linked
    Function/system disorder neurology
    Type disease