DISEASES

Disease-gene associations mined from literature

Human genes for familial cold autoinflammatory syndrome 3

Familial cold autoinflammatory syndrome 3 [DOID:0090064]

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.

Synonyms:  familial cold autoinflammatory syndrome 3,  DOID:0090064,  hereditary cold autoinflammatory syndrome 3