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GENATLAS PHENOTYPE
last update : 30-05-2018
Symbol FCU
Location 1q44
Name familial cold urticaria
Other name(s)
  • cold hypersensitivity
  • familial cold inflammatory syndrome 1
  • Corresponding gene NLRP3
    related resource INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
    Other symbol(s) FCAS1
    Main clinical features
  • early onset before 1 year
  • recurrent attacks of a nonpruritic non urticarial maculopapular exanthem
  • associated with arthralgias fever, chills conjunctivitis, myalgias, headache, fatigue, swelling of the extremities
  • appearing thirty minutes to three hours after cold exposure and persisting 24-48 hours
  • pathology : primarily polymorphonuclear leukocyte perivascular infiltrate
  • increased vascularity, dermal edema,
  • evolution : chronic, benign
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    defense and immunity
    Type disease
    Gene product
    Name cold autoinflammatory syndrome 1 CIAS1
    Remark(s)