Neurology · Neurology / Autoinflammatory disorders; Rheumatology
Neonatal-onset multisystem inflammatory disease with neurological involvement
also: CINCA syndrome; NOMID
Cryopyrin-associated periodic syndrome with CNS involvement.
- Specialty
- Neurology
- Subspecialty
- Neurology / Autoinflammatory disorders; Rheumatology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, neonatal onset
- Gene(s) involved
- NLRP3
- Alternative names & eponyms
- CINCA syndrome; NOMID
- Note
- Neurologic involvement is a component; verify
Etiology & mechanism
Gain-of-function NLRP3 mutation causes IL-1 overproduction.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Neonatal-onset multisystem inflammatory disease with neurological involvement may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Branchio-oto-renal syndrome
hearing loss
1 shared
Chanarin–Dorfman syndrome
hearing loss
1 shared
CHARGE syndrome
hearing loss
1 shared
Cockayne syndrome
hearing loss
1 shared
Cogan syndrome
hearing loss
1 shared
Cogan syndrome with neurological involvement
hearing loss
1 shared
Cornelia de Lange syndrome
hearing loss
1 shared
Cryopyrin-associated periodic syndrome
papilledema
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