Search Ontology:
Human Disease

familial cold autoinflammatory syndrome 3

Term ID
DOID:0090064
Synonyms
  • FACU
  • familial atypical cold urticaria
  • FCAS3
  • phospholipase C gamma 2-associated antibody deficiency and immune dysregulation
  • PLAID
  • PLCG2-associated antibody deficiency and immune dysregulation
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. https://www.ncbi.nlm.nih.gov/pubmed/22236196
References
Ontology
Human Disease   ( DOID:0090064 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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