KEGG   DISEASE: Muckle-Wells syndrome
Entry
H02555                      Disease                                
Name
Muckle-Wells syndrome
  Supergrp
Cryopyrin associated periodic syndrome [DS:H00282]
Description
Muckle-Wells syndrome (MWS) is a rare inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive interleukin-1 release. MWS is part of a spectrum of cryopyrin-associated periodic syndrome (CAPS).
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02555  Muckle-Wells syndrome
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06521  NLR signaling
   H02555  Muckle-Wells syndrome
Pathway
hsa04621  NOD-like receptor signaling pathway
Network
nt06521 NLR signaling
Gene
NLRP3 [HSA:114548] [KO:K12800]
Other DBs
ICD-11: 4A60.1
MeSH: D056587
OMIM: 191900
Reference
PMID:32246440
  Authors
Azevedo SRL, Peixoto DFM
  Title
Muckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family.
  Journal
World J Pediatr 16:541-542 (2020)
DOI:10.1007/s12519-020-00358-0
Reference
PMID:23440695
  Authors
Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, Hansmann S, Plontke SK, Koitschev C, Koetter I, Angermair E, Benseler SM
  Title
Hearing loss in Muckle-Wells syndrome.
  Journal
Arthritis Rheum 65:824-31 (2013)
DOI:10.1002/art.37810
Reference
PMID:22146561
  Authors
Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM
  Title
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.
  Journal
Arthritis Res Ther 13:R196 (2011)
DOI:10.1186/ar3526
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