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References OMIM Gene GeneReviews HGMD HGNC
last update : 12 -11-2013
Symbol MNK
Location Xq21.1
Name Menkes syndrome
Other name(s)
  • Kinky hair disease
  • Steely hair disease
  • Cooper transport disease
  • Corresponding gene ATP7A
    Other symbol(s) MK
    Main clinical features
  • disorder of copper metabolism, lethal in childhood
  • early retardation in growth, peculiar hair
  • focal cerebral and cerebellar degeneration, mental retardation
  • severe neurologic impairment began within a month or two of birth and progressed rapidly to decerebration
  • Genetic determination sex linked
    Function/system disorder metabolism/metal
    Type disease
    Gene product
    Name copper-transporting ATPase (ATP7A), splice-site mutation