ZFIN Human Disease: CINCA Syndrome

OBO ID: DOID:0090029

Term Name:	CINCA Syndrome		Search Ontology:
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 OMIM:607115 ORDO:1451
Ontology:	Human Disease ( DOID:0090029 )

Relationships

is a type of:	autoimmune disease autosomal dominant disease autoimmune disease autosomal dominant disease Show first 5 Terms

OTHER CINCA Syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NLRP3	nlrp3	CINCA syndrome	607115

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None