CINCA Syndrome (DOID:0090029)
Alliance: disease page
Synonyms: chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; infantile-onset multisystem inflammatory disease; IOMID syndrome; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome
Alt IDs: OMIM:607115, ICD10CM:E85.0, ORDO:1451
Definition: An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.