Muckle-Wells syndrome, abbreviated MWS, is a rare autosomal dominant disease that causes sensorineural deafness and recurrent hives and can lead to amyloidosis. People with it often have episodic fever, chills and joint pain, which is why it is counted as a periodic fever syndrome. The source attributes it to a defect in the CIAS1 gene, which creates the protein cryopyrin. It is closely related to familial cold urticaria and neonatal onset multisystem inflammatory disease; all three involve mutations in the same gene and are grouped under the term cryopyrin-associated periodic syndromes, or CAPS. This record is limited to the source's opening summary and is not medical advice.
Facts
Classification
Body SystemLymphatic or Immune System 1 ICD-10 ChapterXIII: Diseases of the Musculoskeletal System and Connective Tissue 2 Causative Agent
Causative Agent (category) Sources
1. National Library of Medicine MeSH: MeSH descriptor Cryopyrin-Associated Periodic Syndromes
National Library of Medicine MeSHMeSH tree numberQuote, MeSH tree number
<http://id.nlm.nih.gov/mesh/D056587> <http://id.nlm.nih.gov/mesh/vocab#treeNumber> <http://id.nlm.nih.gov/mesh/C20.543.480.904.533.500.500> .
View the Source 2. EMBL-EBI Ontology Lookup Service: Muckle-Wells syndrome (DOID term)
EMBL-EBI Ontology Lookup Servicedatabase_cross_reference of the DOID term Muckle-Wells syndrome; ICD-10 chapter derived from code M04.2 (WHO range M00-M99)Quote, database_cross_reference of the DOID term Muckle-Wells syndrome; ICD-10 chapter derived from code M04.2 (WHO range M00-M99)
ICD10CM:M04.2
View the Source 3. Muckle-Wells syndrome (Wikipedia)
Lead, causeQuote, Lead, cause
caused by a defect in the CIAS1 gene
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