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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-05-2018
Symbol CINCA
Location 1q44
Name chronic neurologic cutaneous and articular syndrome
Other name(s)
  • CINCA syndrome
  • multisystem inflammatory disease, neonatal
  • Corresponding gene NLRP3
    Other symbol(s) NOMID
    Main clinical features
  • neonatal onset of urticaria-like rash, chronic fever, laboratory findings of systemic inflammation, headache, and chronic CNS inflammation associated with sensorineural deafness
  • hepatosplenomegaly, neurosensory deafness, mental retardation
  • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
  • associated with EH through the dominant expression of transcripts, which may depend on the CIAS1-VNTR genotype