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familial cold autoinflammatory syndrome
Summary
- Synonym
-
- FCAS
- Definition
- A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
- Super Class
- primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0090061
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16885 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | |
| Q9Y251 | Heparanase |
