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Muckle-Wells syndrome

Disease ID:974
Name:Muckle-Wells syndrome
Associated with:1 target
2 immuno-relevant ligands
CAPS2 | cryopyrin-associated periodic syndrome 2 | MWS | urticaria-deafness-amyloidosis syndrome
Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis.
Database Links
OMIM: 191900
Orphanet: ORPHA575


Mutations:  NLRP3 is associated with 3 mutation. Click here for details


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Ligand References Clinical and Disease comments
Immuno Disease Comments: An anti-IL-1β therapeutic approved for Muckle-Wells syndrome.
Clinical Use: Used to treat rheumatic diseases; familial cold autoinflammatory syndrome (FCAS) [3] and Muckle-Wells syndrome (MWS) in patients >4 years of age, systemic juvenile idiopathic arthritis (sJIA) in patients >2 years old [4], and adult-onset Still's disease.

Unexpectedly, further analysis of data from the CANTOS cardiovascular disease trial revealed that IL-1β inhibition significantly reduced the incidence of hip and knee replacements compared to those not treated with canakinumab, suggesting application of canakinumab as a large joint osteoarthritis therapeutic [5].

SARS-CoV-2 and COVID-19: Canakinumab has been entered in to clinical trials that aim to determine its ability to combat the exaggerated immune response that drives cytokine storm and leads to tissue damage in the lung and other organs in patients with severe COVID-19. | View clinical data
Immuno Disease Comments: Approved drug for Muckle-Wells syndrome.
Clinical Use: Currently used in the treatment of cryopyrin-associated periodic syndrome (CAPS). Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells syndrome; and CINCA syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.

EMA approval has been withdrawn. | View clinical data


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1. Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A et al.. (2002) New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet, 70 (6): 1498-506. [PMID:11992256]

2. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet, 29 (3): 301-5. [PMID:11687797]

3. Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, Gitton X, Widmer A, Patel N, Hawkins PN et al.. (2009) Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med, 360 (23): 2416-25. [PMID:19494217]

4. Ruperto N, Brunner HI, Quartier P, Constantin T, Wulffraat N, Horneff G, Brik R, McCann L, Kasapcopur O, Rutkowska-Sak L et al.. (2012) Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N Engl J Med, 367 (25): 2396-406. [PMID:23252526]

5. Schieker M, Conaghan PG, Mindeholm L, Praestgaard J, Solomon DH, Scotti C, Gram H, Thuren T, Roubenoff R, Ridker PM. (2020) Effects of Interleukin-1β Inhibition on Incident Hip and Knee Replacement : Exploratory Analyses From a Randomized, Double-Blind, Placebo-Controlled Trial. Ann Intern Med, 173 (7): 509-515. [PMID:32744862]