MWS
MCID: MCK007
MIFTS: 67

Muckle-Wells Syndrome (MWS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Immune diseases, Blood diseases, Ear diseases categories
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Summaries for Muckle-Wells Syndrome

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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 based summary: Muckle-Wells Syndrome, also known as urticaria-deafness-amyloidosis syndrome, is related to urticaria and adult-onset still's disease, and has symptoms including chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis, sensorineural deafness/hearing loss and broad foot. 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, kidney and neutrophil, and related mouse phenotypes are liver/biliary system and integument.

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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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 20GeneTests, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Muckle-Wells Syndrome, Aliases & Descriptions:

Name: Muckle-Wells Syndrome 8 9 42 21 46 44 48 62
Urticaria-Deafness-Amyloidosis Syndrome 42 21 62
Neutrophilic Urticaria 48 62
Muckle Wells Syndrome 42 20
Uda Syndrome 42 21
 
Progressive Hereditary Glomerulonephritis Without Deafness 62
Familial Amyloid Nephropathy with Urticaria and Deafness 21
Urticaria, Deafness and Amyloidosis 42
Mws 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
muckle-wells syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: Adult


External Ids:

Disease Ontology8 DOID:0050854
OMIM46 191900
ICD10 via Orphanet26 E85.0
UMLS via Orphanet63 C0268390

Related Diseases for Muckle-Wells Syndrome

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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 120)
idRelated DiseaseScoreTop Affiliating Genes
1urticaria30.9NLRP3, CASP1, IL1RAPL2
2adult-onset still's disease30.6CRP
3amyloidosis, secondary30.6MEFV, CRP
4amyloidosis30.5CRP, IL1RAPL2, TNFRSF1A, MEFV
5uveitis30.4IL1R1, TNFRSF1A
6familial mediterranean fever30.4TNFRSF1A, MEFV, NLRP3
7familial cold autoinflammatory syndrome30.2NLRP3, CASP1, IL1B, IL1R1, MEFV, TNFRSF1A
8arthropathy30.0NLRP3, CRP, IL1B, IL1RAPL2
9multiple sclerosis30.0IL1R1, IL1RAPL2, TNFRSF1A, CASP1, IL1B
10wells syndrome11.1
11palindromic rheumatism10.5MEFV
12polyarteritis nodosa10.5MEFV
13schnitzler syndrome10.5IL1R1
14pericarditis10.5MEFV
15common cold10.4IL8
16pyoderma gangrenosum10.4MEFV, NLRP3
17leukemoid reaction10.4IL3
18cryopyrin-associated periodic syndrome10.4
19felty's syndrome10.4IL3
20aseptic meningitis10.4NLRP3, IL1R1
21bronchiolitis10.4IL8
22periodic fever, familial, autosomal dominant10.3TNFRSF1A, MEFV
23skin disease10.3IL1B
24conjunctivitis10.3NLRP3, TNFRSF1A
25relapsing fever10.3TNFRSF1A, MEFV
26mowat-wilson syndrome10.3
27septic arthritis10.3CRP
28pleurisy10.3IL1B, MEFV
29bacteriuria10.3CRP
30gout10.3NLRP3, IL1B
31cowpox10.3CASP1, TNFRSF1A
32bronchitis10.3CRP
33cystinuria10.2
34sensorineural hearing loss10.2
35goiter10.2
36keratitis10.2
37proteinuria10.2
38thyroiditis10.2
39anterior uveitis10.2
40blau syndrome10.2IL1B, NLRP3, MEFV
41extrinsic allergic alveolitis10.2TNFRSF1A, IL8
42periodontal disease10.2CRP
43mastitis10.2IL8, IL1B
44periodontitis10.2IL1B, IL8
45gastritis10.2IL1RAPL2, IL8
46shigellosis10.2IL1R1, IL1B, CASP1
47leprosy10.2
48adult respiratory distress syndrome10.2IL8, IL1B
49exanthem10.1CRP, NLRP3
50hairy cell leukemia10.1TNFRSF1A, IL3

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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Symptoms by clinical synopsis from OMIM:

191900

Clinical features from OMIM:

191900

Symptoms:

48 (show all 36)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • sensorineural deafness/hearing loss
  • broad foot
  • dermal/subcutaneous infiltration/induration
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • cranial nerves palsy
  • articular/joint pain/arthralgia
  • arthritis/synovitis/synovial proliferation
  • autosomal dominant inheritance
  • urticaria
  • acute abdominal pain/colic
  • renal disease/nephropathy
  • nephrotic syndrome
  • metabolic anomalies
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • glaucoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • broad nose/nasal bridge
  • high vaulted/narrow palate
  • inguinal/inguinoscrotal/crural hernia
  • camptodactyly of fingers
  • pes cavus
  • ichthyosis/ichthyosiform dermatitis
  • enanthema/aphtosa/aphta/leukoplakia
  • abnormal cry/voice/phonation disorder/nasal speech
  • 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

HPO human phenotypes related to Muckle-Wells Syndrome:

(show all 45)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 arthritis hallmark (90%) HP:0001369
3 splenomegaly hallmark (90%) HP:0001744
4 broad foot hallmark (90%) HP:0001769
5 hepatomegaly hallmark (90%) HP:0002240
6 arthralgia hallmark (90%) HP:0002829
7 cranial nerve paralysis hallmark (90%) HP:0006824
8 inflammatory abnormality of the eye hallmark (90%) HP:0100533
9 nephrotic syndrome typical (50%) HP:0000100
10 nephropathy typical (50%) HP:0000112
11 urticaria typical (50%) HP:0001025
12 abdominal pain typical (50%) HP:0002027
13 abnormality of the genital system occasional (7.5%) HP:0000078
14 abnormality of the palate occasional (7.5%) HP:0000174
15 macrocephaly occasional (7.5%) HP:0000256
16 abnormality of the nose occasional (7.5%) HP:0000366
17 glaucoma occasional (7.5%) HP:0000501
18 optic atrophy occasional (7.5%) HP:0000648
19 polyneuropathy occasional (7.5%) HP:0001271
20 abnormality of the voice occasional (7.5%) HP:0001608
21 pes cavus occasional (7.5%) HP:0001761
22 anemia occasional (7.5%) HP:0001903
23 restrictive lung disease occasional (7.5%) HP:0002091
24 vasculitis occasional (7.5%) HP:0002633
25 amyotrophy occasional (7.5%) HP:0003202
26 myalgia occasional (7.5%) HP:0003326
27 hernia of the abdominal wall occasional (7.5%) HP:0004299
28 short stature occasional (7.5%) HP:0004322
29 abnormality of temperature regulation occasional (7.5%) HP:0004370
30 ichthyosis occasional (7.5%) HP:0008064
31 camptodactyly of finger occasional (7.5%) HP:0100490
32 autosomal dominant inheritance HP:0000006
33 renal insufficiency HP:0000083
34 hearing impairment HP:0000365
35 progressive sensorineural hearing impairment HP:0000408
36 conjunctivitis HP:0000509
37 abnormality of the skin HP:0000951
38 renal amyloidosis HP:0001917
39 episodic fever HP:0001954
40 leukocytosis HP:0001974
41 arthralgia HP:0002829
42 myalgia HP:0003326
43 elevated erythrocyte sedimentation rate HP:0003565
44 infantile onset HP:0003593
45 recurrent aphthous stomatitis HP:0011107

Drugs & Therapeutics for Muckle-Wells Syndrome

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Drug clinical trials:

Search ClinicalTrials for Muckle-Wells Syndrome

Search NIH Clinical Center for Muckle-Wells Syndrome

Genetic Tests for Muckle-Wells Syndrome

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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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MalaCards organs/tissues related to Muckle-Wells Syndrome:

32
Skin, Kidney, Neutrophil, Bone, Liver, Brain, Thyroid, Monocytes

Animal Models for Muckle-Wells Syndrome or affiliated genes

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Publications for Muckle-Wells Syndrome

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Articles related to Muckle-Wells Syndrome:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Renal involvement in secondary amyloidosis of Muckle-Wells syndrome: marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1I^ monoclonal antibody canakinumab. (24510061)
2014
2
Muckle wells syndrome associated with multifocal clinically isolated syndrome. (24618190)
2014
3
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. (24326009)
2013
4
Muckle-Wells syndrome: individualized, reflare-guided dosing of the orphan drug canakinumab. (23745225)
2013
5
Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation). (23511763)
2013
6
Chronic keratitis with intrastromal epithelioid histiocytes: a new finding in Muckle-Wells syndrome. (23187166)
2013
7
Challenges in diagnosing Muckle-Wells syndrome: Identifying two distinct phenotypes. (24127202)
2013
8
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
9
Muckle-Wells syndrome and male hypofertility: a case series. (22512814)
2012
10
Progressive familial hearing loss in Muckle-Wells syndrome. (22497426)
2012
11
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. (21360513)
2011
12
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. (22146561)
2011
13
Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory? (21967869)
2011
14
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. (21810457)
2011
15
Improvement of sensoneurinal hearing loss in a patient with Muckle-Wells syndrome treated with anakinra]. (20135584)
2010
16
Four cases of Muckle-Wells syndrome within the same family. (21308320)
2010
17
Risk factors for severe Muckle-Wells syndrome. (20722029)
2010
18
Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident. (20456407)
2010
19
Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome. (19828598)
2009
20
H syndrome and Muckle-Wells syndrome. (19615552)
2009
21
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. (19664849)
2009
22
Quiz page. Muckle Wells syndrome. (18971008)
2008
23
Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. (18311804)
2008
24
Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra. (17892965)
2007
25
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. (17486372)
2007
26
Diagnosis of Muckle-Wells syndrome - 33 years later. (18061973)
2007
27
Biological and clinical aspects of Muckle-Wells syndrome]. (17473514)
2007
28
Muckle-Wells syndrome: another cause of acute anterior uveitis. (17277755)
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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UniProtKB/Swiss-Prot genetic disease variations for Muckle-Wells Syndrome:

64
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:

6
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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Expression patterns in normal tissues for genes affiliated with Muckle-Wells Syndrome

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Pathways for genes affiliated with Muckle-Wells Syndrome

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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 Activity37
9.7IL1R1, IL1B
39.6IL1B, CASP1
4
Show member pathways
Apoptosis Modulation and Signaling37
Apoptosis37
9.3CASP1, IL1R1, TNFRSF1A
5
Show member pathways
IL-1 Signaling Pathway37
IL1-mediated signaling events37
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 pathway37
9.1IL8, IL3
13
Show member pathways
9.1IL1B, IL3, TNFRSF1A
14
Show member pathways
MAPK signaling pathway37
8.9TNFRSF1A, IL1R1, IL1B, CASP1
158.9IL1R1, IL8, IL1B
168.9IL1R1, IL8, IL1B
17
Show member pathways
Immune response MIF in innate immunity response60
8.9IL1R1, IL8, IL1B
18
Show member pathways
8.8IL8, IL1B, CASP1
198.8CASP1, IL1B, IL8
20
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
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 pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
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 pathways60
Immune response IL 1 signaling pathway60
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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Compounds related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 159)
idCompoundScoreTop Affiliating Genes
1mevalonate449.4NLRP3, MEFV, TNFRSF1A, CASP1
2tenidap44 2810.3IL1R1, IL1B, CRP
3as 10144 6110.2IL1R1, CASP1, IL3, IL1B
4leflunomide44 50 1111.1TNFRSF1A, IL1R1, IL1RAPL2, IL1B
5tlck449.1CASP1, IL1B, IL8
6muramyl dipeptide44 2810.1IL1B, IL8, CASP1
7adalimumab44 50 1111.0IL1R1, CRP, IL1RAPL2, TNFRSF1A
8polysulfone448.9IL1R1, CRP, IL1RAPL2, IL1B
9lxa4448.9IL8, IL3, IL1B
10gold sodium thiomalate448.9IL1B, IL1R1, IL8
11mip 1alpha448.8IL3, IL1B, IL8
12diphenyleneiodonium448.8IL1B, IL8, IL1R1, CASP1
13cuprophan448.8TNFRSF1A, IL1R1, IL1RAPL2, IL1B, CASP1
14peptidoglycan44 289.8IL8, IL1B, CASP1, IL1R1
15gp 130448.8TNFRSF1A, IL1R1, IL1RAPL2, IL3
16polyethylene glycol448.8CRP, IL1R1, IL1RAPL2, TNFRSF1A
17monosodium urate448.8IL1B, IL8, IL1RAPL2, IL1R1
18amphotericin b448.7IL1RAPL2, IL1R1, CRP
19ribonucleic acid448.6IL1B, IL1RAPL2, IL1R1, TNFRSF1A, CASP1
20poly(i-c)448.6CASP1, IL8, IL3, IL1B
21infliximab44 50 1110.5TNFRSF1A, IL1R1, IL1RAPL2, IL1B, CRP
22aspirin44 50 28 2411.5IL1B, CASP1, IL1RAPL2, IL1R1, CRP
23pentoxifylline44 119.4IL1R1, IL8, IL1RAPL2, CASP1, IL1B
24hydrocortisone44 2 61 1111.3IL8, IL1R1, IL3, IL1B
25anakinra44 119.3CASP1, CRP, IL1B, IL1RAPL2, IL1R1, NLRP3
26il 10448.2IL1RAPL2, IL1R1, IL3, IL8, IL1B
27methotrexate50 44 1110.2NLRP3, IL1B, CRP, IL1RAPL2, IL1R1, TNFRSF1A
28leukotriene b444 61 2410.2IL1R1, IL3, IL1RAPL2, IL8, IL1B
29sulfasalazine28 44 50 1111.1IL1R1, CRP, IL8, IL1B, IL1RAPL2
30fmlp448.1IL1RAPL2, TNFRSF1A, IL3, IL8, IL1B
31ivig448.0IL1B, IL1RAPL2, IL1R1, CRP, TNFRSF1A, IL3
32creatinine448.0CASP1, IL1R1, TNFRSF1A, IL3, IL1RAPL2, CRP
33histamine44 28 2410.0IL3, IL1RAPL2, IL1B, IL8, CASP1
34testosterone44 61 24 1110.9IL3, TNFRSF1A, CRP, CASP1, IL1R1, IL1RAPL2
35pge2447.9TNFRSF1A, CASP1, IL1B, IL8, IL1RAPL2, IL1R1
36threonine447.9NLRP3, CASP1, IL1R1, IL3, TNFRSF1A, IL1RAPL2
37cyclosporin a44 28 619.9IL1RAPL2, IL1R1, IL3, CASP1, TNFRSF1A, IL8
38sb 20358044 618.9CRP, IL1R1, TNFRSF1A, IL1B, CASP1, IL8
39rantes447.8IL1B, TNFRSF1A, IL3, IL1R1, IL1RAPL2, IL8
40h2o2447.8IL1RAPL2, IL1R1, IL3, TNFRSF1A, IL8, CASP1
41etanercept44 50 119.7IL1R1, IL1RAPL2, IL8, IL1B, CRP, TNFRSF1A
42lactate447.6IL1R1, CRP, CASP1, IL8, IL1RAPL2, IL3
43nitric oxide44 24 119.6IL8, CASP1, TNFRSF1A, IL1R1, IL1RAPL2, IL1B
44actinomycin d447.5IL1B, IL3, IL1R1, IL8, CASP1, TNFRSF1A
45dexamethasone44 50 28 1110.4IL1RAPL2, IL1R1, IL3, TNFRSF1A, CASP1, IL8
46n acetylcysteine447.4IL8, TNFRSF1A, IL1R1, IL3, IL1B, CASP1
47vegf447.3TNFRSF1A, CRP, CASP1, IL1B, IL1R1, IL8
48neopterin447.2IL1R1, CRP, IL1B, IL8, IL1RAPL2, TNFRSF1A
49endotoxin447.0IL1RAPL2, IL8, IL1B, CASP1, CRP, IL1R1
50cycloheximide446.8IL3, CASP1, TNFRSF1A, IL1B, IL8, IL1RAPL2

GO Terms for genes affiliated with Muckle-Wells Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1NLRP3 inflammasome complexGO:0725599.5CASP1, NLRP3
2extracellular spaceGO:0056157.6CRP, IL1B, IL8, IL3, TNFRSF1A
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:0331989.8CASP1, IL1B
3nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.8MEFV, CASP1, NLRP3
4cellular response to organic substanceGO:0713109.8IL1B, CASP1
5regulation of inflammatory responseGO:0507279.8CASP1, IL1R1
6negative regulation of inflammatory responseGO:0507289.7NLRP3, MEFV, TNFRSF1A
7interleukin-1 beta productionGO:0326119.6NLRP3, CASP1, IL1B
8cellular response to mechanical stimulusGO:0712609.5TNFRSF1A, IL1B, CASP1
9positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.5TNFRSF1A, IL1B, CASP1
10response to hypoxiaGO:0016669.3CRP, CASP1, TNFRSF1A
11neutrophil chemotaxisGO:0305939.1IL8, IL1B
12cytokine-mediated signaling pathwayGO:0192219.1IL1B, IL1RAPL2, TNFRSF1A
13apoptotic processGO:0069159.1TNFRSF1A, IL1B, CASP1, NLRP3
14immune responseGO:0069558.6IL1B, IL8, IL1R1, IL3
15signal transductionGO:0071658.2NLRP3, CASP1, IL1B, IL8
16inflammatory responseGO:0069547.8NLRP3, TNFRSF1A, MEFV, IL8, IL1B, 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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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet