Muckle-Wells syndrome

Summary
Synonym
  • MWS
  • neutrophilic urticaria
Definition
A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:0050854
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4907 NT5E 5'-nucleotidase ecto
5336 PLCG2 phospholipase C gamma 2
8809 IL18R1 interleukin 18 receptor 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024