Muckle-Wells syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2
URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME
UDA SYNDROME
CAPS2
MWS
Urticaria - deafness - amyloidosis
Number of Symptoms 59
OrphanetNr: 575
OMIM Id: 191900
ICD-10: E85.0
L50.8
UMLs: C0268390
MeSH:
MedDRA: 10064569
Snomed: 15123008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cryopyrin-associated periodic syndrome
 -Rare genetic disease
 -Rare immune disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease
Secondary glomerular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000100) Nephrotic syndrome Frequent [Orphanet] 83 / 7739
2
 (HPO:0001917) Renal amyloidosis 8 / 7739
3
 (HPO:0000083) Renal insufficiency 232 / 7739
4
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
5
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
6
 (HPO:0011107) Recurrent aphthous stomatitis 13 / 7739
7
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
8
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
9
 (HPO:0011830) Abnormality of oral mucosa Occasional [Orphanet] 47 / 7739
10
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
11
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
12
 (HPO:0000509) Conjunctivitis 47 / 7739
13
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
14
 (HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
15
 (HPO:0000365) Hearing impairment 539 / 7739
16
 (HPO:0006824) Cranial nerve paralysis Very frequent [Orphanet] 81 / 7739
17
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
18
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
19
 (HPO:0001761) Pes cavus Occasional [Orphanet] 225 / 7739
20
 (HPO:0002829) Arthralgia 79 / 7739
21
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
22
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
23
 (HPO:0001769) Broad foot Very frequent [Orphanet] 31 / 7739
24
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
25
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
26
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
27
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
28
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
29
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
30
 (HPO:0000951) Abnormality of the skin 147 / 7739
31
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
32
 (HPO:0001025) Urticaria Frequent [Orphanet] 73 / 7739
33
 (HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
34
 (HPO:0001974) Leukocytosis 33 / 7739
35
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
36
 (HPO:0001954) Episodic fever 27 / 7739
37
 (HPO:0011227) Elevated C-reactive protein level Frequent [Orphanet] 55 / 7739
38
 (HPO:0001939) Abnormality of metabolism/homeostasis Frequent [Orphanet] 328 / 7739
39
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
40
 (HPO:0001945) Fever Occasional [Orphanet] 218 / 7739
41
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
42
 (HPO:0002091) Restrictive ventilatory defect Occasional [Orphanet] 46 / 7739
43
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
44
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
45
 (OMIM) Rash may or may not be pruritic 2 / 7739
46
 (OMIM) Episodic myalgia 3 / 7739
47
 (OMIM) Sensorineural deafness, progressive, late-onset 1 / 7739
48
 (OMIM) Maculopapular rash, episodic 2 / 7739
49
 (HPO:0003593) Infantile onset 249 / 7739
50
 (OMIM) Conjunctivitis, episodic 1 / 7739
51
 (OMIM) Lower extremity pain 1 / 7739
52
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
53
 (OMIM) Increased erythrocyte sedimentation rate, episodic 1 / 7739
54
 (OMIM) Renal amyloidosis, late-onset 2 / 7739
55
 (OMIM) Arthralgia, episodic 2 / 7739
56
 (OMIM) Increased IL6, episodic 1 / 7739
57
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
58
 (OMIM) Stiff skin Very frequent [Orphanet] 31 / 7739
59
 (OMIM) Polymorphonuclear leukocytosis, episodic 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).

See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder ...
Clinical Description OMIM Muckle and Wells (1962) described a family in which urticaria, progressive perceptive deafness, and amyloidosis were combined in a dominantly inherited syndrome. Five generations were affected. Autopsy in 2 patients showed absent organ of Corti, atrophy of the ...
Molecular genetics OMIM In a family with Muckle-Wells syndrome, Hoffman et al. (2001) found a mutation in the NLRP3 gene (606416.0004). Hoffman et al. (2001) also found mutations in the NLRP3 gene causing familial cold autoinflammatory syndrome (120100), thus demonstrating that ...