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familial cold autoinflammatory syndrome 3
Summary
- Definition
- A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.
- Super Class
- autosomal dominant disease familial cold autoinflammatory syndrome
External Links
- Disease Ontology
- DOID:0090064
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16885 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003493 | Antinuclear antibody positivity |
| HP:0100665 | Angioedema |
| HP:0000989 | Pruritus |
| HP:0011463 | Childhood onset |
| HP:0000403 | Recurrent otitis media |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0012203 | Onychomycosis |
| HP:0002099 | Asthma |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003593 | Infantile onset |
