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GENATLAS PHENOTYPE
last update : 20/06/2006
Symbol CMT1D
Location 10q21.2
Name Charcot-Marie-Tooth disease, demyelinating, type 1D
Other name(s)
  • hereditary motor and sensory neuropathy 1D
  • charcot-marie-tooth neuropathy, type 1D
    • Corresponding gene EGR2
    Other symbol(s) HSMN1D,CHMN
    Main clinical features neuropathy with variable expression, sensorineural peripheral polyneuropathy
    Genetic determination autosomal dominant
    Related entries including Dejerine-Sottas neuropathy
    Function/system disorder neurology
    Type disease
    Gene product
    Name immediate early growth response gene 2 (EGR2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R359W, one case of DSS
    missense     R359Q
    Remark(s)