Neonatal-onset multisystem inflammatory disease with neurological involvement

Also known as: CINCA syndrome; NOMID

Cryopyrin-associated periodic syndrome with CNS involvement.

Medical specialty: Neurology
Subspecialty: Neurology / Autoinflammatory disorders; Rheumatology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal onset
Gene(s) involved: NLRP3

Etiology & mechanism

Gain-of-function NLRP3 mutation causes IL-1 overproduction.

Gene(s) involved (1)

NLRP3

Symptoms & signs (5)

arthropathychronic aseptic meningitishearing losspapilledemarash

Note

Neurologic involvement is a component; verify

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.