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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
CINCA Syndrome
Summary
- Synonym
-
- IOMID syndrome
- NOMID syndrome
- Prieur-Griscelli syndrome
- chronic infantile neurological cutaneous articular syndrome
- chronic neurologic cutaneous and articular syndrome
- cryopyrin-associated periodic syndrome 3
- infantile-onset multisystem inflammatory disease
- neonatal-onset multisystem inflammatory disease
- 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.
- Super Class
- autoimmune disease autosomal dominant disease
External Links
- Disease Ontology
- DOID:0090029
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75015 | Low affinity immunoglobulin gamma Fc region receptor III-B | |
| P16885 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | |
| Q96AT9 | Ribulose-phosphate 3-epimerase |
