Orphanet: NLRP12 associated hereditary periodic fever syndrome

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NLRP12-associated hereditary periodic fever syndrome

Disease definition

NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.


Classification level: Disorder
  • Synonym(s):
    • FCAS2
    • Familial cold autoinflammatory syndrome type 2
    • NAPS12
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E85.0
  • OMIM: 611762
  • UMLS: C2673198
  • MeSH: -
  • GARD: -
  • MedDRA: -
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