GTR Home > Conditions/Phenotypes > Familial cold urticaria


Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000). Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype. Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome See also FCAS2 (611762), caused by mutation in the NLRP12 gene (609648) on chromosome 19q13, and FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q. [from OMIM]

Associated genes

  • Also known as: AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCU, MWS, NALP3, PYPAF1, NLRP3
    Summary: NLR family, pyrin domain containing 3

Clinical features

  • Hyperhidrosis
  • Leukocytosis
  • Arthralgia
  • Myalgia
  • Urticaria
  • Dehydration
  • Sensorineural hearing impairment
  • Conjunctivitis
  • Pruritus
  • Arthritis
  • Renal amyloidosis
  • Subcutaneous hemorrhage
  • Episodic fever
  • Nausea and vomiting
  • Migraine
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