CINCA Syndrome

Term ID

DOID:0090029

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

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. (3)

References

• ICD10CM:E85.0
• MIM:607115
• ORDO:1451

Ontology

Human Disease   ( DOID:0090029 )