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NLRC4-related familial cold autoinflammatory syndrome

Disease definition

A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases.

ORPHA:576349

Classification level: Disorder
  • Synonym(s):
    • FCAS4
    • Familial cold autoinflammatory syndrome 4
    • NLRC4-related familial cold urticaria
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: D89.8
  • OMIM: 616115
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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