familial cold autoinflammatory syndrome 3

Summary

DOID:0090064 - familial cold autoinflammatory syndrome 3

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: plcg2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013766 - epicanthal fold

MONDO:0013766 - epicanthal fold

MIM:

MIM:614468 - FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3

MIM:614468 - FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), familial cold autoinflammatory syndrome (is_a)