Condition

Muckle-Wells syndrome

Diseases of the Blood and Immune Mechanism

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 System
Lymphatic or Immune System 1
ICD-10 Chapter
XIII: Diseases of the Musculoskeletal System and Connective Tissue 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 4
Causative Agent
Causative Agent (category)
Genetic / Hereditary 5
Prevalence Band
Rare (Under 1 in 2000) 6
Sources
1. National Library of Medicine MeSH: MeSH descriptor Cryopyrin-Associated Periodic Syndromes
National Library of Medicine MeSHMeSH tree number
Quote, 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. National Cancer Institute (NCI Thesaurus): Muckle-Wells syndrome - NCI Thesaurus concept C119054
National Cancer Institute (NCI Thesaurus)Definition
Quote, Definition
An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin.
View the Source
4. MedlinePlus Genetics (U.S. National Library of Medicine): Muckle-Wells syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)
  • Description and Inheritance
    Impairment of the body's mechanisms for controlling inflammation results in the episodes of fever and damage to the body's cells and tissues seen in CAPS.
  • Description and Inheritance, transmission route
    CAPS are usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
View the Source
5. Muckle-Wells syndrome (Wikipedia)
Lead, cause
Quote, Lead, cause
caused by a defect in the CIAS1 gene
View the Source
6. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:575
Quote, ORPHA:575
Point prevalence Class only <1 / 1 000 000
View the Source
Comments (0)
No comments yet. Be the first to share a thought.
Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.

Medicine Atlas

How Healing Is Practiced
Sign In
Text size
100%
Theme