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Muckle-Wells syndrome

Orpha number ORPHA575
Synonym(s) Urticaria - deafness - amyloidosis
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Variable
ICD-10
  • E85.0
  • L50.8
OMIM
UMLS
  • C0268390
MeSH -
MedDRA
  • 10064569
SNOMED CT
  • 15123008

Summary

Muckle-Wells syndrome (MWS) is an intermediate formof cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever, recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation and potentially life-threatening secondary amyloidosis (AA type).


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Detailed information

Summary information
Review article
  • FR (2005,pdf)
Clinical practice guidelines
  • FR (2013,pdf)
Guidance for genetic testing
  • EN (2012,pdf)
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