MWS
MCID: MCK007
MIFTS: 55

Muckle-Wells Syndrome (MWS) malady

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

Summaries for Muckle-Wells Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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. it is caused by mutations in the gene called nlrp3 or cias1. this gene tells the body how to make a protein called cryopyrin. cryopyrin helps to regulate our bodies process of inflammation. cryopyrin defects are also responsible for familial cold autoinflammatory syndrome and chronic infantile neurological cutaneous and articular syndrome. together these syndromes are  referred to as “cryopyrin-associated periodic syndromes.” a new treatment called “arcalyst” has been approved for treatment of these disorders and has shown dramatic affect against the inflammatory symptoms of muckle-wells syndrome. last updated: 3/23/2010

MalaCards: Muckle-Wells Syndrome, also known as urticaria-deafness-amyloidosis syndrome, is related to urticaria and amyloidosis, 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 TGF-Beta Pathway and Senescence and Autophagy. The compounds tenidap and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and thyroid, 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:47 191900

Aliases & Classifications for Muckle-Wells Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological, Bone, Skin, Immune, Blood, Ear


Characteristics (Orphanet epidemiological data):

49
muckle-wells syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

muckle-wells syndrome 43 21 47 45 49 61
urticaria-deafness-amyloidosis syndrome 43 21
muckle wells syndrome 43 20
uda syndrome 43 21
progressive hereditary glomerulonephritis without deafness 61
familial amyloid nephropathy with urticaria and deafness 21
urticaria, deafness and amyloidosis 43
urticaria - deafness - amyloidosis 49
mws 21


External Ids:

OMIM47 191900
ICD10 via Orphanet26 E85.0, L50.8
SNOMED-CT via Orphanet58 15123008
UMLS via Orphanet62 C0268390

Related Diseases for Muckle-Wells Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 194)
idRelated DiseaseScoreTop Affiliating Genes
1urticaria30.7NLRP3, CASP1, IL1RAPL2
2amyloidosis30.7TNFRSF1A, CRP, MEFV, IL1RAPL2
3familial cold autoinflammatory syndrome30.5IL1B, IL1R1, MEFV, TNFRSF1A, CASP1, NLRP3
4uveitis30.3TNFRSF1A, IL1R1
5amyloidosis, secondary30.3CRP, MEFV
6arthropathy30.2NLRP3, CRP, IL1RAPL2, IL1B
7familial mediterranean fever29.9NLRP3, TNFRSF1A, MEFV
8wells syndrome11.1
9n syndrome10.7
10amyloidosis, renal10.3
11mowat-wilson syndrome10.3
12umod-associated kidney disease10.3
13familial juvenile hyperuricaemic nephropathy10.3
14amyloidosis, hereditary renal10.3
15sensorineural hearing loss10.2
16cystinuria10.2
17adult syndrome10.2
18char syndrome10.2
19anterior uveitis10.2
20cryopyrin-associated periodic syndrome10.2
21kid syndrome10.2
22recurrent fever multi-gene panels10.2
23borderline leprosy10.1
24schnitzler syndrome10.0IL1R1
25dermatitis10.0NLRP3
26alopecia areata10.0IL1R1
27pericarditis10.0MEFV
28prostate cancer10.0IL1R1
29palindromic rheumatism10.0MEFV
30polyarteritis nodosa10.0MEFV
31hepatitis b10.0TNFRSF1A
32ischemia10.0CASP1
33cervical cancer10.0IL1R1
34common variable immune deficiency10.0TNFRSF1A
35influenza10.0CASP1
36diabetic retinopathy10.0CASP1
37hepatitis10.0IL1RAPL2
38leishmaniasis10.0TNFRSF1A
39colon cancer10.0CASP1
40dementia10.0IL1RAPL2
41sarcoma10.0IL1R1
42amyotrophic lateral sclerosis10.0CASP1
43insulinoma10.0CASP1
44down syndrome10.0CASP1
45infertility10.0CASP1
46gingivitis10.0IL1B
47dermatomyositis10.0IL1RAPL2
48skin disease10.0IL1B
49pancreas disease10.0CASP1
50crohn's disease10.0CRP

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



Diseases related to muckle-wells syndrome

Clinical Features for Muckle-Wells Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

191900

Clinical synopsis from OMIM:

191900

Symptoms:

49 (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

Drugs & Therapeutics for Muckle-Wells Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests
See all sources

Genetic tests related to Muckle-Wells Syndrome:

id Genetic test Affiliating Genes
1 Muckle-wells Syndrome20 NLRP3

Anatomical Context for Muckle-Wells Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Muckle-Wells Syndrome:

33
Brain, Kidney, Thyroid, Skin, Monocytes

Animal Models for Muckle-Wells Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Muckle-Wells Syndrome

Sources:
51PubMed
See all sources

Articles related to Muckle-Wells Syndrome:

(show top 50)    (show all 61)
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
Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. (23909124)
2013
8
Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens. (23718630)
2013
9
Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. (21360513)
2011
10
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. (22146561)
2011
11
Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory? (21967869)
2011
12
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. (21810457)
2011
13
An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K. (20819795)
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
Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident. (20456407)
2010
17
Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome. (19828598)
2009
18
H syndrome and Muckle-Wells syndrome. (19615552)
2009
19
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. (19664849)
2009
20
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. (18174231)
2008
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
Biological and clinical aspects of Muckle-Wells syndrome]. (17473514)
2007
26
Muckle-Wells syndrome: another cause of acute anterior uveitis. (17277755)
2007
27
Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. (16646042)
2006
28
A probable case of Muckle-Wells syndrome. (16556280)
2006
29
Muckle-Wells syndrome: a rare periodic fever syndrome]. (16901068)
2006
30
Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. (16533222)
2006
31
Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. (16531551)
2006
32
Successful treatment of clinical manifestations of Muckle-Wells syndrome with anakinra]. (16915547)
2006
33
Successful treatment of acute visual loss in Muckle-Wells syndrome with interleukin 1 receptor antagonist. (16014694)
2005
34
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. (15801036)
2005
35
Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome. (16279571)
2005
36
Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred. (15270877)
2004
37
TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis. (12832748)
2003
38
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. (12673085)
2003
39
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. (12815153)
2003
40
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. (11992256)
2002
41
Muckle-Wells syndrome? (11312446)
2001
42
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. (11687797)
2001
43
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. (10486324)
1999
44
Muckle-Wells syndrome: case report and review of cutaneous pathology. (9704852)
1998
45
Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome? (8737977)
1996
46
Muckle-Wells syndrome nephropathy: lack of response to colchicine therapy. (7566591)
1995
47
Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family. (7802040)
1994
48
Amyloid goiter and arthritides after kidney transplantation in a patient with systemic amyloidosis and Muckle-Wells syndrome. (2589249)
1989
49
Identification of amyloid A protein in a sporadic Muckle-Wells syndrome. N-terminal amino acid sequence after isolation from formalin-fixed tissue. (6406764)
1983
50
The Muckle-Wells syndrome and the major histocompatibility complex. (6857626)
1983

Genetic Variations for Muckle-Wells Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Muckle-Wells Syndrome:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore, 53R&D Systems
See all sources

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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Muckle-Wells Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 124)
idCompoundScoreTop Affiliating Genes
1tenidap45 2911.5IL1R1
2cycloheximide4510.4IL1RAPL2
3endotoxin459.9TNFRSF1A, CASP1, MEFV
4fmlp459.8IL1RAPL2, IL3
5diphenyleneiodonium459.7IL1B, CASP1, IL1R1
6pentoxifylline45 1110.7IL1R1, IL1RAPL2, CASP1
7uric acid45 2410.6IL1R1, AVP, CASP1
8mevalonate459.5CASP1, NLRP3, TNFRSF1A, MEFV
9tlck459.4CASP1, IL1B, IL8
10muramyl dipeptide45 2910.3IL1B, IL8, CASP1
11gold sodium thiomalate459.3IL1B, IL1R1, IL8
12leflunomide50 45 1111.3IL1R1, IL1RAPL2, TNFRSF1A, IL1B
13as 10160 4510.3IL3, IL1B, CASP1, IL1R1
14lxa4459.2IL1B, IL3, IL8
15norepinephrine45 11 2411.2TNFRSF1A, IL1RAPL2, AVP
16cyclosporin a45 29 6011.1CASP1, IL3, IL1R1, IL1RAPL2
17mip 1alpha459.1IL3, IL8, IL1B
18peptidoglycan45 2910.1IL1B, CASP1, IL1R1, IL8
19monosodium urate459.1IL1R1, IL1RAPL2, IL8, IL1B
20cuprophan459.0TNFRSF1A, CASP1, IL1R1, IL1B, IL1RAPL2
21poly(i-c)458.9CASP1, IL1B, IL8, IL3
22gp 130458.9TNFRSF1A, IL3, IL1R1, IL1RAPL2
23adalimumab45 50 1110.8CRP, IL1RAPL2, IL1R1
24polysulfone458.8IL1R1, IL1B, IL1RAPL2, CRP
25rantes458.8IL1B, IL1RAPL2, IL1R1, IL3, TNFRSF1A
26ribonucleic acid458.8IL1RAPL2, IL1R1, CASP1, IL1B, TNFRSF1A
27dexamethasone45 50 29 1111.7AVP, IL3, IL1R1, IL1RAPL2, CASP1
28polyethylene glycol458.7CRP, IL1R1, TNFRSF1A, IL1RAPL2
29h2o2458.7IL1RAPL2, IL1R1, IL3, TNFRSF1A, CASP1
30amphotericin b458.5CRP, IL1R1, IL1RAPL2
31il 10458.5IL1B, IL8, IL1RAPL2, IL1R1, IL3
32infliximab45 50 1110.5IL1B, CRP, IL1R1, IL1RAPL2, TNFRSF1A
33leukotriene b445 60 2410.5IL1B, IL1R1, IL1RAPL2, IL8, IL3
34creatinine458.4IL1RAPL2, CASP1, TNFRSF1A, CRP, AVP
35aspirin45 50 29 2411.3IL1RAPL2, IL1B, IL1R1, CASP1, CRP
36sulfasalazine45 29 50 1111.2CRP, IL1B, IL1R1, IL8, IL1RAPL2
37anakinra45 119.2CRP, IL1B, IL1RAPL2, IL1R1, CASP1, NLRP3
38methotrexate45 50 1110.2IL1B, IL1RAPL2, IL1R1, NLRP3, TNFRSF1A, CRP
39threonine458.0TNFRSF1A, AVP, IL1RAPL2, IL1R1, NLRP3, IL3
40sb 20358045 609.0IL8, CASP1, TNFRSF1A, CRP, IL1B, IL1R1
41ivig458.0TNFRSF1A, CRP, IL3, IL1R1, IL1B, IL1RAPL2
42histamine45 29 249.9IL1B, CASP1, IL3, IL1RAPL2, IL8
43etanercept45 50 119.9IL1B, IL8, IL1RAPL2, IL1R1, TNFRSF1A, CRP
44nitric oxide45 11 249.8IL8, TNFRSF1A, CASP1, IL1B, AVP, IL1R1
45actinomycin d457.8IL8, IL1B, CASP1, TNFRSF1A, IL3, IL1R1
46testosterone45 60 11 2410.7TNFRSF1A, IL1RAPL2, IL1R1, IL3, CRP, CASP1
47lactate457.7CRP, CASP1, IL3, IL8, IL1R1, IL1RAPL2
48n acetylcysteine457.5TNFRSF1A, IL1B, CASP1, IL1R1, IL3, IL8
49vegf457.5CRP, IL1R1, IL1RAPL2, TNFRSF1A, IL8, CASP1
50neopterin457.4IL1RAPL2, CRP, IL3, IL1B, IL1R1, IL8

GO Terms for genes affiliated with Muckle-Wells Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muckle-Wells Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet