familial cold autoinflammatory syndrome 2

Rare Disease

MONDO:0012724

Also Known As

FCAS2NALP12-associated hereditary periodic fever syndromeNAPS12NLRP12 familial cold autoinflammatory syndromeNLRP12-associated hereditary periodic fever syndromefamilial cold autoinflammatory syndrome 2familial cold autoinflammatory syndrome caused by mutation in NLRP12familial cold autoinflammatory syndrome type 2

Definition

An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.