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Metadata
ID DOID:0090029
Name CINCA Syndrome
Definition An autoimmune hypersensitivity 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.
https://www.ncbi.nlm.nih.gov/pubmed/12032915, https://www.ncbi.nlm.nih.gov/pubmed/7252669
Xrefs

ICD10CM:E85.0

OMIM:607115

ORDO:1451

Synonyms

chronic infantile neurological cutaneous articular syndrome [EXACT]

chronic neurologic cutaneous and articular syndrome [EXACT]

cryopyrin-associated periodic syndrome 3 [EXACT]

infantile-onset multisystem inflammatory disease [EXACT]

IOMID syndrome [EXACT]

neonatal-onset multisystem inflammatory disease [EXACT]

NOMID syndrome [EXACT]

Prieur-Griscelli syndrome [EXACT]

Parent Relationships

is_a autoimmune hypersensitivity disease

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