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last update : 30-05-2018
Symbol MWS
Location 1q44
Name Muckle-Wells syndrome
Corresponding gene NLRP3
Main clinical features
  • onset in infancy
  • characterized by acute febrile inflammatory episodes comprising abdominal pain, arthritis and urticaria, secondary associated with a progressive neurosensory deafness, complicated by multiorgan AA-type amyloidosis, renal involvement and end-stage renal failure
  • neurosensory deafness, rare renal amyloidosis
  • Genetic determination autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name cold autoinflammatory syndrome 1 CIAS1