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GENATLAS PHENOTYPE
last update : 26-03-2011
Symbol WND
Location 13q14.3
Name Wilson disease
Other name(s) hepatolenticular degeneration
Corresponding gene ATP7B
Other symbol(s) WD
Main clinical features
  • progressive accumulation of copper in liver and brain, resulting in chronic liver disease and neurological impairment
  • with a reduced sweat production but unaltered sweat copper concentration
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/metal
    Type disease
    Gene product
    Name copper binding P-type ATPase 2 (ATP7B)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mutation H1069Q(His 1069Gln), or Met645Arg, the most frequent in caucasians (30p100) causing mild form
    nonsense   abnormal protein/loss of function causing severe phenotypic expression (Leu 1120ter or Gln 111ter)
    abnormal splicing   unknown 1708-1G>A
    frameshift     associated with severe phenotype
    missense     C271 stop, prevalent mutation (19p100)
    Remark(s)
    Genotype/Phenotype correlations
  • frameshift and nonsense mutations are associated with a severe phenotype
  • missense mutation associated to milder form