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Mednik syndrome

From SNPedia

Mednik syndrome [1] is an extremely rare, severe inherited disease recently discovered in four French-Canadian families. The disease is named for its effects on the body:

  • M = Mental retardation
  • E = Enteropathy (intestinal pathology)
  • D = Deafness
  • N = peripheral Neuropathy (damage to nerves)
  • I = Ichthyosis (scaly skin)
  • K = Keratodermia (thickened skin)

Mednik syndrome is caused by defects in the adaptor protein gene AP1S1.