Ontology highlight
ABSTRACT:
SUBMITTER: Cuisset L
PROVIDER: S-EPMC1288238 | biostudies-literature | 1999 Oct
REPOSITORIES: biostudies-literature
Cuisset L L Drenth J P JP Berthelot J M JM Meyrier A A Vaudour G G Watts R A RA Scott D G DG Nicholls A A Pavek S S Vasseur C C Beckmann J S JS Delpech M M Grateau G G
American journal of human genetics 19991001 4
The Muckle-Wells syndrome (MWS) is a hereditary inflammatory disorder characterized by acute febrile inflammatory episodes comprising abdominal pain, arthritis, and urticaria. Progressive nerve deafness develops subsequently, and, after several years, the disease is complicated by multiorgan AA-type amyloidosis (i.e., amyloidosis derived from the inflammatory serum amyloid-associated protein) (MIM 191900) with renal involvement and end-stage renal failure. The mode of inheritance is autosomal do ...[more]