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Muckle-Wells syndrome

Disease Summary
Associated Targets (5)
Tchem

2

Tbio

2

Tclin

1


GARD Rare
Mondo Description Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).
Uniprot Description A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs.
Mondo Term and Equivalent IDs
MONDO:0008633:  Muckle-Wells syndrome
GARD:0008472: 
NCIT:C119054: 
Orphanet:575: 
SCTID:402417009: 
UMLS:C0268390: 
UMLS:C1304205: