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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


Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
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, and systemic juvenile idiopathic arthritis (sJIA) in patients >2 years old [4]. | 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EMA approval has been withdrawn.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]