MWS
MCID: MCK007
MIFTS: 66

Muckle-Wells Syndrome (MWS) malady

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

Summaries for Muckle-Wells Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 urticaria and amyloidosis, and has symptoms including biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp, glaucoma and nephrotic syndrome. An important gene associated with Muckle-Wells Syndrome is NLRP3 (NLR family, pyrin domain containing 3), and among its related pathways are TRAF Pathway and Monoamine Transport. The compounds mevalonate and tenidap have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, and related mouse phenotypes are liver/biliary system and integument.

Description from OMIM:48 191900

Aliases & Classifications for Muckle-Wells Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 21GeneTests, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
muckle-wells syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

muckle-wells syndrome 9 10 44 22 48 46 50 63
urticaria-deafness-amyloidosis syndrome 44 22
muckle wells syndrome 44 21
uda syndrome 44 22
progressive hereditary glomerulonephritis without deafness 63
familial amyloid nephropathy with urticaria and deafness 22
urticaria, deafness and amyloidosis 44
neutrophilic urticaria 50
mws 22


External Ids:

Disease Ontology9 DOID:0050854
OMIM48 191900
ICD10 via Orphanet27 E85.0, L50.8
SNOMED-CT via Orphanet60 15123008
UMLS via Orphanet64 C0268390

Related Diseases for Muckle-Wells Syndrome

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18GeneCards, 19GeneDecks
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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 118)
idRelated DiseaseScoreTop Affiliating Genes
1urticaria30.7NLRP3, CASP1, IL1RAPL2
2amyloidosis30.7CRP, IL1RAPL2, TNFRSF1A, MEFV
3familial cold autoinflammatory syndrome30.5NLRP3, CASP1, IL1B, IL1R1, MEFV, TNFRSF1A
4amyloidosis, secondary30.4MEFV, CRP
5uveitis30.3IL1R1, TNFRSF1A
6arthropathy30.2NLRP3, CRP, IL1B, IL1RAPL2
7multiple sclerosis30.2IL1R1, IL1RAPL2, TNFRSF1A, CASP1, IL1B
8adult-onset still's disease30.2CRP
9familial mediterranean fever30.1TNFRSF1A, MEFV, NLRP3
10wells syndrome11.1
11cryopyrin-associated periodic syndrome10.4
12mowat-wilson syndrome10.3
13cystinuria10.2
14sensorineural hearing loss10.2
15goiter10.2
16keratitis10.2
17thyroiditis10.2
18anterior uveitis10.2
19recurrent fever multi-gene panels10.2
20leprosy10.1
21palindromic rheumatism10.1MEFV
22polyarteritis nodosa10.1MEFV
23schnitzler syndrome10.1IL1R1
24pericarditis10.1MEFV
25common cold10.1IL8
26pyoderma gangrenosum10.1MEFV, NLRP3
27leukemoid reaction10.1IL3
28felty's syndrome10.1IL3
29aseptic meningitis10.1NLRP3, IL1R1
30bronchiolitis10.1IL8
31periodic fever, familial, autosomal dominant10.1TNFRSF1A, MEFV
32skin disease10.1IL1B
33conjunctivitis10.1NLRP3, TNFRSF1A
34relapsing fever10.1TNFRSF1A, MEFV
35hepatitis b10.1
36hepatitis10.1
37septic arthritis10.1CRP
38pleurisy10.1IL1B, MEFV
39bacteriuria10.1CRP
40gout10.1NLRP3, IL1B
41cowpox10.1CASP1, TNFRSF1A
42bronchitis10.1CRP
43blau syndrome10.1IL1B, NLRP3, MEFV
44extrinsic allergic alveolitis10.0TNFRSF1A, IL8
45periodontal disease10.0CRP
46mastitis10.0IL8, IL1B
47periodontitis10.0IL1B, IL8
48gastritis10.0IL1RAPL2, IL8
49shigellosis10.0IL1R1, IL1B, CASP1
50adult respiratory distress syndrome10.0IL8, IL1B

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



Diseases related to muckle-wells syndrome

Symptoms for Muckle-Wells Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

191900

Clinical features from OMIM:

191900

Symptoms:

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

Drugs & Therapeutics for Muckle-Wells Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests
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Genetic tests related to Muckle-Wells Syndrome:

id Genetic test Affiliating Genes
1 Muckle-Wells Syndrome21 NLRP3

Anatomical Context for Muckle-Wells Syndrome

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34MalaCards
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MalaCards organs/tissues related to Muckle-Wells Syndrome:

34
Skin, Liver, Bone, Kidney, Brain, Monocytes, Thyroid

Animal Models for Muckle-Wells Syndrome or affiliated genes

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38MGI
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Publications for Muckle-Wells Syndrome

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53PubMed
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Articles related to Muckle-Wells Syndrome:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. (24326009)
2013
2
Muckle-Wells syndrome: individualized, reflare-guided dosing of the orphan drug canakinumab. (23745225)
2013
3
Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation). (23511763)
2013
4
Chronic keratitis with intrastromal epithelioid histiocytes: a new finding in Muckle-Wells syndrome. (23187166)
2013
5
Challenges in diagnosing Muckle-Wells syndrome: Identifying two distinct phenotypes. (24127202)
2013
6
Muckle-Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1I^ and rapid response to anakinra. (23889084)
2013
7
Hearing loss in Muckle-Wells syndrome. (23440695)
2013
8
Muckle-Wells syndrome and male hypofertility: a case series. (22512814)
2012
9
Progressive familial hearing loss in Muckle-Wells syndrome. (22497426)
2012
10
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. (21360513)
2011
11
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. (22146561)
2011
12
Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory? (21967869)
2011
13
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. (21810457)
2011
14
Improvement of sensoneurinal hearing loss in a patient with Muckle-Wells syndrome treated with anakinra]. (20135584)
2010
15
Four cases of Muckle-Wells syndrome within the same family. (21308320)
2010
16
Risk factors for severe Muckle-Wells syndrome. (20722029)
2010
17
Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident. (20456407)
2010
18
Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome. (19828598)
2009
19
H syndrome and Muckle-Wells syndrome. (19615552)
2009
20
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. (19664849)
2009
21
Quiz page. Muckle Wells syndrome. (18971008)
2008
22
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. (18311804)
2008
23
Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra. (17892965)
2007
24
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. (17486372)
2007
25
Diagnosis of Muckle-Wells syndrome - 33 years later. (18061973)
2007
26
Biological and clinical aspects of Muckle-Wells syndrome]. (17473514)
2007
27
Muckle-Wells syndrome: another cause of acute anterior uveitis. (17277755)
2007
28
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). (18084703)
2007
29
Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. (16646042)
2006
30
A probable case of Muckle-Wells syndrome. (16556280)
2006
31
Muckle-Wells syndrome: a rare periodic fever syndrome]. (16901068)
2006
32
Successful treatment of acute visual loss in Muckle-Wells syndrome with interleukin 1 receptor antagonist. (16014694)
2005
33
Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome. (16279571)
2005
34
Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred. (15270877)
2004
35
Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. (14872505)
2004
36
TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis. (12832748)
2003
37
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. (12815153)
2003
38
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. (11992256)
2002
39
Muckle-Wells syndrome? (11312446)
2001
40
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. (11687797)
2001
41
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. (10486324)
1999
42
Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? (9797932)
1998
43
Muckle-Wells syndrome: case report and review of cutaneous pathology. (9704852)
1998
44
Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome? (8737977)
1996
45
Recurrent urticarial skin eruption since infancy. Muckle-Wells syndrome (MWS). (7826101)
1995
46
The arthropathy of the Muckle-Wells syndrome. (8000753)
1994
47
Amyloid goiter and arthritides after kidney transplantation in a patient with systemic amyloidosis and Muckle-Wells syndrome. (2589249)
1989
48
Identification of amyloid A protein in a sporadic Muckle-Wells syndrome. N-terminal amino acid sequence after isolation from formalin-fixed tissue. (6406764)
1983
49
The Muckle-Wells syndrome and the major histocompatibility complex. (6857626)
1983
50
The 'Muckle-Wells' syndrome. (427013)
1979

Variations for Muckle-Wells Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Muckle-Wells Syndrome:

65
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

Clinvar genetic disease variations for Muckle-Wells Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NLRP3NM_004895.4(NLRP3): c.1061C> T (p.Ala354Val)single nucleotide variantPathogenicrs121908149GRCh37Chr 1, 247587806: 247587806
2NLRP3NM_004895.4(NLRP3): c.784C> T (p.Arg262Trp)single nucleotide variantPathogenicrs121908150GRCh37Chr 1, 247587529: 247587529
3NLRP3NM_004895.4(NLRP3): c.1711G> C (p.Gly571Arg)single nucleotide variantPathogenicrs121908151GRCh37Chr 1, 247588456: 247588456
4NLRP3NM_004895.4(NLRP3): c.913G> A (p.Asp305Asn)single nucleotide variantPathogenicrs121908153GRCh37Chr 1, 247587658: 247587658

Expression for genes affiliated with Muckle-Wells Syndrome

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2BioGPS, 16Gene 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:
51PathCards, 54QIAGEN, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 61Thomson Reuters, 55R&D Systems
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Pathways related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

(show all 38)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7CASP1, TNFRSF1A
2
Show member pathways
Serotonin Transporter Activity39
9.7IL1R1, IL1B
39.6IL1B, CASP1
4
Show member pathways
Apoptosis Modulation and Signaling39
Apoptosis39
9.3CASP1, IL1R1, TNFRSF1A
5
Show member pathways
IL-1 Signaling Pathway39
IL1-mediated signaling events39
9.3IL1R1, IL1B, CASP1
6
Show member pathways
9.3TNFRSF1A, IL1R1, IL1B
7
Show member pathways
9.3IL1B, IL1R1, TNFRSF1A
89.3IL1B, IL1R1, TNFRSF1A
99.2IL1R1, IL3, TNFRSF1A
109.2IL1B, IL8
119.2IL1B, IL1R1, IL3
12
Show member pathways
Calcium signaling in the CD4+ TCR pathway39
9.1IL8, IL3
13
Show member pathways
9.1IL1B, IL3, TNFRSF1A
14
Show member pathways
MAPK signaling pathway39
8.9TNFRSF1A, IL1R1, IL1B, CASP1
158.9IL1R1, IL8, IL1B
168.9IL1R1, IL8, IL1B
17
Show member pathways
Immune response MIF in innate immunity response61
8.9IL1R1, IL8, IL1B
18
Show member pathways
8.8IL8, IL1B, CASP1
198.8CASP1, IL1B, IL8
20
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
8.8IL1B, IL8, TNFRSF1A
21
Show member pathways
8.8IL3, IL1R1, IL1B, CASP1
22
Show member pathways
8.8CASP1, IL1B, IL1R1, IL3
23
Show member pathways
8.7TNFRSF1A, IL3, IL1R1, IL1B
24
Show member pathways
8.7CASP1, IL1B, IL3, TNFRSF1A
258.7IL1B, IL8, IL3
268.7IL3, IL8, IL1B
278.5IL8, IL1B, CASP1, NLRP3
288.4IL1B, IL8, IL1R1, TNFRSF1A
29
Show member pathways
Transcription NF kB signaling pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
8.4TNFRSF1A, IL1R1, IL8, IL1B
30
Show member pathways
8.4TNFRSF1A, IL3, IL1R1, IL1B, CASP1
31
Show member pathways
8.2NLRP3, CASP1, IL1B, IL8, MEFV
32
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways61
Immune response IL 1 signaling pathway61
8.2IL1R1, IL8, IL1B, CASP1, NLRP3
33
Show member pathways
8.1TNFRSF1A, IL8, IL1B, CASP1, NLRP3
34
Show member pathways
7.9IL1B, IL8, IL1R1, IL3, TNFRSF1A
35
Show member pathways
7.9TNFRSF1A, IL3, IL1R1, IL8, IL1B
36
Show member pathways
7.9IL1B, IL8, IL1R1, IL3, TNFRSF1A
37
Show member pathways
7.5TNFRSF1A, IL3, IL1R1, IL8, IL1B, CASP1
38
Show member pathways
7.5TNFRSF1A, IL3, IL1R1, IL8, IL1B, CASP1

Compounds for genes affiliated with Muckle-Wells Syndrome

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 12DrugBank, 25HMDB, 3BitterDB
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Compounds related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 159)
idCompoundScoreTop Affiliating Genes
1mevalonate469.4NLRP3, MEFV, TNFRSF1A, CASP1
2tenidap46 3010.3IL1R1, IL1B, CRP
3as 10146 6210.2IL1R1, CASP1, IL3, IL1B
4leflunomide46 52 1211.1TNFRSF1A, IL1R1, IL1RAPL2, IL1B
5tlck469.1CASP1, IL1B, IL8
6muramyl dipeptide46 3010.1IL1B, IL8, CASP1
7adalimumab46 52 1211.0IL1R1, CRP, IL1RAPL2, TNFRSF1A
8polysulfone468.9IL1R1, CRP, IL1RAPL2, IL1B
9lxa4468.9IL8, IL3, IL1B
10gold sodium thiomalate468.9IL1B, IL1R1, IL8
11mip 1alpha468.8IL3, IL1B, IL8
12diphenyleneiodonium468.8IL1B, IL8, IL1R1, CASP1
13cuprophan468.8TNFRSF1A, IL1R1, IL1RAPL2, IL1B, CASP1
14peptidoglycan46 309.8IL8, IL1B, CASP1, IL1R1
15gp 130468.8TNFRSF1A, IL1R1, IL1RAPL2, IL3
16polyethylene glycol468.8CRP, IL1R1, IL1RAPL2, TNFRSF1A
17monosodium urate468.8IL1B, IL8, IL1RAPL2, IL1R1
18amphotericin b468.7IL1RAPL2, IL1R1, CRP
19ribonucleic acid468.6IL1B, IL1RAPL2, IL1R1, TNFRSF1A, CASP1
20poly(i-c)468.6CASP1, IL8, IL3, IL1B
21infliximab46 52 1210.5TNFRSF1A, IL1R1, IL1RAPL2, IL1B, CRP
22aspirin46 52 30 2511.5IL1B, CASP1, IL1RAPL2, IL1R1, CRP
23pentoxifylline46 129.4IL1R1, IL8, IL1RAPL2, CASP1, IL1B
24hydrocortisone46 3 62 1211.3IL8, IL1R1, IL3, IL1B
25anakinra46 129.3CASP1, CRP, IL1B, IL1RAPL2, IL1R1, NLRP3
26il 10468.2IL1RAPL2, IL1R1, IL3, IL8, IL1B
27methotrexate52 46 1210.2NLRP3, IL1B, CRP, IL1RAPL2, IL1R1, TNFRSF1A
28leukotriene b446 62 2510.2IL1R1, IL3, IL1RAPL2, IL8, IL1B
29sulfasalazine30 46 52 1211.1IL1R1, CRP, IL8, IL1B, IL1RAPL2
30fmlp468.1IL1RAPL2, TNFRSF1A, IL3, IL8, IL1B
31ivig468.0IL1B, IL1RAPL2, IL1R1, CRP, TNFRSF1A, IL3
32creatinine468.0CASP1, IL1R1, TNFRSF1A, IL3, IL1RAPL2, CRP
33histamine46 30 2510.0IL3, IL1RAPL2, IL1B, IL8, CASP1
34testosterone46 62 25 1210.9IL3, TNFRSF1A, CRP, CASP1, IL1R1, IL1RAPL2
35pge2467.9TNFRSF1A, CASP1, IL1B, IL8, IL1RAPL2, IL1R1
36threonine467.9NLRP3, CASP1, IL1R1, IL3, TNFRSF1A, IL1RAPL2
37cyclosporin a46 30 629.9IL1RAPL2, IL1R1, IL3, CASP1, TNFRSF1A, IL8
38sb 20358046 628.9CRP, IL1R1, TNFRSF1A, IL1B, CASP1, IL8
39rantes467.8IL1B, TNFRSF1A, IL3, IL1R1, IL1RAPL2, IL8
40h2o2467.8IL1RAPL2, IL1R1, IL3, TNFRSF1A, IL8, CASP1
41etanercept46 52 129.7IL1R1, IL1RAPL2, IL8, IL1B, CRP, TNFRSF1A
42lactate467.6IL1R1, CRP, CASP1, IL8, IL1RAPL2, IL3
43nitric oxide46 25 129.6IL8, CASP1, TNFRSF1A, IL1R1, IL1RAPL2, IL1B
44actinomycin d467.5IL1B, IL3, IL1R1, IL8, CASP1, TNFRSF1A
45dexamethasone46 52 30 1210.4IL1RAPL2, IL1R1, IL3, TNFRSF1A, CASP1, IL8
46n acetylcysteine467.4IL8, TNFRSF1A, IL1R1, IL3, IL1B, CASP1
47vegf467.3TNFRSF1A, CRP, CASP1, IL1B, IL1R1, IL8
48neopterin467.2IL1R1, CRP, IL1B, IL8, IL1RAPL2, TNFRSF1A
49endotoxin467.0IL1RAPL2, IL8, IL1B, CASP1, CRP, IL1R1
50cycloheximide466.8IL3, CASP1, TNFRSF1A, IL1B, IL8, IL1RAPL2

GO Terms for genes affiliated with Muckle-Wells Syndrome

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17Gene Ontology
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Cellular components related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NLRP3 inflammasome complexGO:0725599.5NLRP3, CASP1
2extracellular spaceGO:0056157.6IL1B, IL8, IL3, TNFRSF1A, CRP
3extracellular regionGO:0055766.8CRP, CASP1, IL1B, IL8, IL1R1, IL3

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-1 beta secretionGO:0507189.9CASP1, NLRP3
2response to ATPGO:0331989.8IL1B, CASP1
3nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.8NLRP3, CASP1, MEFV
4cellular response to organic substanceGO:0713109.8CASP1, IL1B
5regulation of inflammatory responseGO:0507279.8IL1R1, CASP1
6negative regulation of inflammatory responseGO:0507289.7MEFV, TNFRSF1A, NLRP3
7interleukin-1 beta productionGO:0326119.6CASP1, IL1B, NLRP3
8cellular response to mechanical stimulusGO:0712609.5CASP1, TNFRSF1A, IL1B
9positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.5CASP1, IL1B, TNFRSF1A
10response to hypoxiaGO:0016669.3CRP, CASP1, TNFRSF1A
11neutrophil chemotaxisGO:0305939.1IL8, IL1B
12cytokine-mediated signaling pathwayGO:0192219.1TNFRSF1A, IL1RAPL2, IL1B
13apoptotic processGO:0069159.1TNFRSF1A, IL1B, CASP1, NLRP3
14immune responseGO:0069558.6IL1B, IL8, IL3, IL1R1
15signal transductionGO:0071658.2CASP1, IL8, IL1B, NLRP3
16inflammatory responseGO:0069547.8TNFRSF1A, MEFV, IL8, IL1B, NLRP3, CRP

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor activityGO:0049089.6IL1RAPL2, IL1R1

Products for genes affiliated with Muckle-Wells Syndrome

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Sources for Muckle-Wells Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet