You are using an outdated browser. Please upgrade your browser to improve your experience.

familial cold autoinflammatory syndrome 1

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.
Uniprot Description A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis.
Mondo Term and Equivalent IDs
MONDO:0007349:  familial cold autoinflammatory syndrome 1
SCTID:238687000: