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Muckle-Wells syndrome

Disease ID:974
Name:Muckle-Wells syndrome
Associated with:1 target
2 immuno-relevant ligands
Synonyms
CAPS2 | cryopyrin-associated periodic syndrome 2 | MWS | urticaria-deafness-amyloidosis syndrome
Description
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

Targets

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

Ligands

Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
Ligand References Clinical and Disease comments
rilonacept
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EMA approval has been withdrawn.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
canakinumab
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

References

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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]