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
Disease Ontology
DOID:0050854
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3557 IL1RN interleukin 1 receptor antagonist
Displaying 1 entry
Gene ID Gene Symbol Description Source
16181 Il1rn interleukin 1 receptor antagonist
Displaying 1 entry
Gene ID Gene Symbol Description Source
60582 Il1rn interleukin 1 receptor antagonist

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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: December 9, 2024