MWS
MCID: MCK007
MIFTS: 60

Muckle-Wells Syndrome (MWS) malady

Nephrological diseases, Bone diseases, Skin diseases, Immune diseases, Blood diseases, Ear diseases, Genetic diseases categories

Summaries for Muckle-Wells Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Muckle-wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (caps). signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. it is caused by mutations in the nlrp3 gene and is inherited in an autosomal dominant manner. treatment includes a medication called anakinra during acute episodes. last updated: 4/7/2014

MalaCards: Muckle-Wells Syndrome, also known as urticaria-deafness-amyloidosis syndrome, is related to amyloidosis and urticaria, and has symptoms including abnormal cry/voice/phonation disorder/nasal speech, enanthema/aphtosa/aphta/leukoplakia and ichthyosis/ichthyosiform dermatitis. An important gene associated with Muckle-Wells Syndrome is NLRP3 (NLR family, pyrin domain containing 3), and among its related pathways are TGF-Beta Pathway and Senescence and Autophagy. The compounds tenidap and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and liver, and related mouse phenotypes are renal/urinary system and tumorigenesis.

Genetics Home Reference:21 Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder.

Description from OMIM:46 191900

Aliases & Classifications for Muckle-Wells Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 20GeneTests, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
muckle-wells syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

muckle-wells syndrome 42 21 46 44 48 60
urticaria-deafness-amyloidosis syndrome 42 21
muckle wells syndrome 42 20
uda syndrome 42 21
progressive hereditary glomerulonephritis without deafness 60
familial amyloid nephropathy with urticaria and deafness 21
urticaria, deafness and amyloidosis 42
urticaria - deafness - amyloidosis 48
mws 21


External Ids:

OMIM46 191900
ICD10 via Orphanet26 E85.0, L50.8
SNOMED-CT via Orphanet57 15123008
UMLS via Orphanet61 C0268390

Related Diseases for Muckle-Wells Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Muckle-Wells Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 193)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis30.7TNFRSF1A, CRP, MEFV, IL1RAPL2
2urticaria30.6NLRP3, CASP1, IL1RAPL2
3uveitis30.2TNFRSF1A, IL1R1
4arthropathy30.2CRP, IL1B, IL1RAPL2, NLRP3
5multiple sclerosis30.2IL1RAPL2, TNFRSF1A, CASP1, IL1B, IL1R1
6familial cold autoinflammatory syndrome30.2IL1B, IL1R1, MEFV, TNFRSF1A, CASP1, NLRP3
7leishmaniasis29.9TNFRSF1A
8familial mediterranean fever29.9TNFRSF1A, MEFV, NLRP3
9hepatocellular carcinoma29.9IL1RAPL2, CASP1
10melanoma29.9IL8, MEFV, CASP1
11umod-associated kidney disease10.3
12familial juvenile hyperuricaemic nephropathy10.3
13amyloidosis, hereditary renal10.3
14mowat-wilson syndrome10.2
15sensorineural hearing loss10.2
16cystinuria10.2
17adult syndrome10.2
18n syndrome10.2
19cerebrovascular disease10.2
20goiter10.2
21keratitis10.2
22thyroiditis10.2
23cryopyrin-associated periodic syndrome10.2
24recurrent fever multi-gene panels10.2
25borderline leprosy10.1
26leprosy10.1
27schnitzler syndrome10.0IL1R1
28dermatitis10.0NLRP3
29alopecia areata10.0IL1R1
30pericarditis10.0MEFV
31prostate cancer10.0IL1R1
32palindromic rheumatism10.0MEFV
33polyarteritis nodosa10.0MEFV
34hepatitis b10.0TNFRSF1A
35ischemia10.0CASP1
36cervical cancer10.0IL1R1
37common variable immune deficiency10.0TNFRSF1A
38influenza10.0CASP1
39diabetic retinopathy10.0CASP1
40hepatitis10.0IL1RAPL2
41colon cancer10.0CASP1
42dementia10.0IL1RAPL2
43sarcoma10.0IL1R1
44amyotrophic lateral sclerosis10.0CASP1
45insulinoma10.0CASP1
46down syndrome10.0CASP1
47infertility10.0CASP1
48gingivitis10.0IL1B
49dermatomyositis10.0IL1RAPL2
50skin disease10.0IL1B

Graphical network of the top 20 diseases related to Muckle-Wells Syndrome:



Diseases related to muckle-wells syndrome

Clinical Features for Muckle-Wells Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

191900

Clinical synopsis from OMIM:

191900

Symptoms:

48 (show all 36)
  • abnormal cry/voice/phonation disorder/nasal speech
  • enanthema/aphtosa/aphta/leukoplakia
  • ichthyosis/ichthyosiform dermatitis
  • pes cavus
  • camptodactyly of fingers
  • inguinal/inguinoscrotal/crural hernia
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • vascularitis/vasculitides/arteritis
  • late puberty/hypogonadism/hypogenitalism
  • neuritis/polyneuritis/multineuritis
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • myalgia/muscular pain
  • anaemia
  • short stature/dwarfism/nanism
  • fever/chilling
  • high vaulted/narrow palate
  • broad nose/nasal bridge
  • arthritis/synovitis/synovial proliferation
  • articular/joint pain/arthralgia
  • cranial nerves palsy
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • dermal/subcutaneous infiltration/induration
  • broad foot
  • sensorineural deafness/hearing loss
  • autosomal dominant inheritance
  • urticaria
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • glaucoma
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • metabolic anomalies
  • nephrotic syndrome
  • renal disease/nephropathy
  • acute abdominal pain/colic
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis

Drugs & Therapeutics for Muckle-Wells Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Muckle-Wells Syndrome

Drug clinical trials:

Search ClinicalTrials for Muckle-Wells Syndrome

Search NIH Clinical Center for Muckle-Wells Syndrome

Search CenterWatch for Muckle-Wells Syndrome

Genetic Tests for Muckle-Wells Syndrome

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20GeneTests
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Genetic tests related to Muckle-Wells Syndrome:

id Genetic test Affiliating Genes
1 Muckle-Wells Syndrome20 NLRP3

Anatomical Context for Muckle-Wells Syndrome

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32MalaCards
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MalaCards organs/tissues related to Muckle-Wells Syndrome:

32
Skin, Kidney, Liver, Bone

Animal Models for Muckle-Wells Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Muckle-Wells Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.4NLRP3, AVP, IL1R1
2MP:00020068.7IL1R1, TNFRSF1A, CASP1, IL1B
3MP:00053977.6NLRP3, CASP1, TNFRSF1A, MEFV, IL3, IL1R1
4MP:00107687.5IL1R1, IL1B, IL3, MEFV, TNFRSF1A, CASP1
5MP:00053766.7MEFV, CRP, IL1R1, TNFRSF1A, CASP1, NLRP3
6MP:00053876.6IL3, NLRP3, CASP1, TNFRSF1A, CRP, MEFV

Publications for Muckle-Wells Syndrome

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Genetic Variations for Muckle-Wells Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Muckle-Wells Syndrome:

62
id Symbol AA change Variation ID SNP ID
1NLRP3p.Val200MetVAR_013227rs121908147
2NLRP3p.Ala354ValVAR_013228
3NLRP3p.Arg262TrpVAR_014104
4NLRP3p.Asp305AsnVAR_014105
5NLRP3p.Gly571ArgVAR_014107
6NLRP3p.Leu307ProVAR_014124
7NLRP3p.Thr350MetVAR_014366
8NLRP3p.Ala441ThrVAR_014369

Expression for genes affiliated with Muckle-Wells Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muckle-Wells Syndrome

Search GEO for disease gene expression data for Muckle-Wells Syndrome.

Pathways for genes affiliated with Muckle-Wells Syndrome

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore, 52R&D Systems
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Pathways related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1TNFRSF1A
29.9IL8
39.8IL1B, IL1R1
4
Hide members
9.8IL1R1, IL1B
59.7CASP1, IL1B
69.7CASP1, IL1B
7
Hide members
9.5MEFV, CASP1, NLRP3
8
Hide members
9.5CASP1, TNFRSF1A, IL1R1
99.4TNFRSF1A, IL1R1, IL1B
10
Hide members
9.4CASP1, IL1R1, IL1B
11
Hide members
9.3IL3, TNFRSF1A, IL1R1
129.3TNFRSF1A, IL3, IL1R1
139.2IL1R1, IL1B, IL3
14
Hide members
9.2CASP1, TNFRSF1A, IL3
15
Hide members
9.2TNFRSF1A, IL3, IL1B
16
Hide members
9.1IL1B, IL1R1, IL8
17
Immune response Bacterial infections in normal airways
Hide members
9.1IL1R1, IL1B, IL8
189.1IL8, IL1B, IL1R1
199.1IL8, CASP1, IL1B
209.1IL8, CASP1, IL1B
21
Hide members
9.0IL1R1, TNFRSF1A, CASP1, IL1B
22
Hide members
9.0IL1B, IL1R1, CASP1, TNFRSF1A
239.0IL8, IL1B, AVP
248.9IL1B, IL3, IL8
25
Hide members
8.9IL3, TNFRSF1A, IL1B, IL1R1
26
Hide members
8.9IL3, IL1R1, CASP1, IL1B
27
Hide members
8.9CASP1, IL1R1, IL1B, IL3
288.8IL1R1, IL1B, IL8, TNFRSF1A
298.8CASP1, IL1B, IL8, NLRP3
30
Hide members
8.5TNFRSF1A, CASP1, IL1B, IL3, IL1R1
31
Hide members
8.5IL8, NLRP3, CASP1, IL1B, IL1R1
32
Hide members
8.5MEFV, IL1B, CASP1, NLRP3, IL8
33
Hide members
8.4NLRP3, CASP1, TNFRSF1A, IL8, IL1B
34
Hide members
8.3IL3, TNFRSF1A, IL1B, IL8, IL1R1
35
Hide members
8.3MEFV, IL3, IL1B, IL1R1, NLRP3, CASP1

Compounds for genes affiliated with Muckle-Wells Syndrome

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 124)
idCompoundScoreTop Affiliating Genes
1tenidap44 2811.5IL1R1
2cycloheximide4410.4IL1RAPL2
3endotoxin449.9TNFRSF1A, CASP1, MEFV
4fmlp449.8IL1RAPL2, IL3
5diphenyleneiodonium449.7IL1B, CASP1, IL1R1
6pentoxifylline44 1110.7IL1R1, IL1RAPL2, CASP1
7uric acid44 2410.6IL1R1, AVP, CASP1
8mevalonate449.5CASP1, NLRP3, TNFRSF1A, MEFV
9tlck449.4CASP1, IL1B, IL8
10muramyl dipeptide44 2810.3IL1B, IL8, CASP1
11gold sodium thiomalate449.3IL1B, IL1R1, IL8
12leflunomide49 44 1111.3IL1R1, IL1RAPL2, TNFRSF1A, IL1B
13as 10159 4410.3IL3, IL1B, CASP1, IL1R1
14lxa4449.2IL1B, IL3, IL8
15norepinephrine44 11 2411.2TNFRSF1A, IL1RAPL2, AVP
16cyclosporin a44 28 5911.1CASP1, IL3, IL1R1, IL1RAPL2
17mip 1alpha449.1IL3, IL8, IL1B
18peptidoglycan44 2810.1IL1B, CASP1, IL1R1, IL8
19monosodium urate449.1IL1R1, IL1RAPL2, IL8, IL1B
20cuprophan449.0TNFRSF1A, CASP1, IL1R1, IL1B, IL1RAPL2
21poly(i-c)448.9CASP1, IL1B, IL8, IL3
22gp 130448.9TNFRSF1A, IL3, IL1R1, IL1RAPL2
23adalimumab44 49 1110.8CRP, IL1RAPL2, IL1R1
24polysulfone448.8IL1R1, IL1B, IL1RAPL2, CRP
25rantes448.8IL1B, IL1RAPL2, IL1R1, IL3, TNFRSF1A
26ribonucleic acid448.8IL1RAPL2, IL1R1, CASP1, IL1B, TNFRSF1A
27dexamethasone44 49 28 1111.7AVP, IL3, IL1R1, IL1RAPL2, CASP1
28polyethylene glycol448.7CRP, IL1R1, TNFRSF1A, IL1RAPL2
29h2o2448.7IL1RAPL2, IL1R1, IL3, TNFRSF1A, CASP1
30amphotericin b448.5CRP, IL1R1, IL1RAPL2
31il 10448.5IL1B, IL8, IL1RAPL2, IL1R1, IL3
32infliximab44 49 1110.5IL1B, CRP, IL1R1, IL1RAPL2, TNFRSF1A
33leukotriene b444 59 2410.5IL1B, IL1R1, IL1RAPL2, IL8, IL3
34creatinine448.4IL1RAPL2, CASP1, TNFRSF1A, CRP, AVP
35aspirin44 49 28 2411.3IL1RAPL2, IL1B, IL1R1, CASP1, CRP
36sulfasalazine44 28 49 1111.2CRP, IL1B, IL1R1, IL8, IL1RAPL2
37anakinra44 119.2CRP, IL1B, IL1RAPL2, IL1R1, CASP1, NLRP3
38methotrexate44 49 1110.2IL1B, IL1RAPL2, IL1R1, NLRP3, TNFRSF1A, CRP
39threonine448.0TNFRSF1A, AVP, IL1RAPL2, IL1R1, NLRP3, IL3
40sb 20358044 599.0IL8, CASP1, TNFRSF1A, CRP, IL1B, IL1R1
41ivig448.0TNFRSF1A, CRP, IL3, IL1R1, IL1B, IL1RAPL2
42histamine44 28 249.9IL1B, CASP1, IL3, IL1RAPL2, IL8
43etanercept44 49 119.9IL1B, IL8, IL1RAPL2, IL1R1, TNFRSF1A, CRP
44nitric oxide44 11 249.8IL8, TNFRSF1A, CASP1, IL1B, AVP, IL1R1
45actinomycin d447.8IL8, IL1B, CASP1, TNFRSF1A, IL3, IL1R1
46testosterone44 59 11 2410.7TNFRSF1A, IL1RAPL2, IL1R1, IL3, CRP, CASP1
47lactate447.7CRP, CASP1, IL3, IL8, IL1R1, IL1RAPL2
48n acetylcysteine447.5TNFRSF1A, IL1B, CASP1, IL1R1, IL3, IL8
49vegf447.5CRP, IL1R1, IL1RAPL2, TNFRSF1A, IL8, CASP1
50neopterin447.4IL1RAPL2, CRP, IL3, IL1B, IL1R1, IL8

GO Terms for genes affiliated with Muckle-Wells Syndrome

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16Gene Ontology
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Cellular components related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NLRP3 inflammasome complexGO:0725599.8CASP1, NLRP3
2extracellular spaceGO:0056157.0TNFRSF1A, CRP, IL3, IL8, IL1B, AVP
3extracellular regionGO:0055766.5AVP, CASP1, TNFRSF1A, CRP, IL3, IL1R1

Biological processes related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1interleukin-1 beta productionGO:0326119.9IL1B, CASP1
2response to ATPGO:0331989.8IL1B, CASP1
3nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.8NLRP3, CASP1, MEFV
4negative regulation of inflammatory responseGO:0507289.7NLRP3, TNFRSF1A, MEFV
5positive regulation of interleukin-1 beta secretionGO:0507189.7NLRP3, CASP1
6cellular response to organic substanceGO:0713109.7CASP1, IL1B
7cellular response to mechanical stimulusGO:0712609.5IL1B, TNFRSF1A, CASP1
8positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431239.0IL1B, TNFRSF1A, CASP1
9response to ethanolGO:0454719.0AVP, CRP, TNFRSF1A
10response to hypoxiaGO:0016668.9CRP, TNFRSF1A, CASP1
11immune responseGO:0069558.8IL3, IL1R1, IL8, IL1B
12signal transductionGO:0071658.4NLRP3, CASP1, IL8, IL1B, AVP
13inflammatory responseGO:0069547.9IL1B, IL8, MEFV, CRP, TNFRSF1A, NLRP3

Molecular functions related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor activityGO:0049089.7IL1RAPL2, IL1R1

Products for genes affiliated with Muckle-Wells Syndrome

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Sources for Muckle-Wells Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet