Disease_Mapped_To_Gene
Pediatric Rheumatology Terminology
Autoinflammatory Syndrome
Muckle-Wells Syndrome
An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis.
An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis.
C0268390
C119054
Disease or Syndrome
MWS
Muckle-Wells Syndrome
Muckle-Wells Syndrome
NICHD
NLRP3 Gene
NICHD Terminology