MCID: ENT015
MIFTS: 47

Enthesitis-Related Arthritis malady

Eye diseases, Respiratory diseases, Bone diseases, Rare diseases categories

Summaries for Enthesitis-Related Arthritis

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MalaCards based summary: Enthesitis-Related Arthritis, also known as juvenile spondylarthropathy, is related to arthritis and enthesitis-related juvenile idiopathic arthritis, and has symptoms including arthritis, joint swelling and inflammatory abnormality of the eye. An important gene associated with Enthesitis-Related Arthritis is TLR2 (toll-like receptor 2), and among its related pathways are TRAF Pathway and IL-17 Family Signaling Pathways. The compounds arabinogalactan and diaminopimelic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and monocytes, and related mouse phenotypes are hematopoietic system and digestive/alimentary.

Aliases & Classifications for Enthesitis-Related Arthritis

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Sources:
49Orphanet, 28ICD10 via Orphanet
See all sources

Enthesitis-Related Arthritis, Aliases & Descriptions:

Name: Enthesitis-Related Arthritis 49
Juvenile Spondylarthropathy 49
 
Era 49


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases, Respiratory diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

49
enthesitis-related arthritis:
Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Orphanet49 85438
ICD10 via Orphanet28 M08.1

Related Diseases for Enthesitis-Related Arthritis

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Graphical network of the top 20 diseases related to Enthesitis-Related Arthritis:



Diseases related to enthesitis-related arthritis

Symptoms for Enthesitis-Related Arthritis

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Symptoms:

 49 (show all 8)
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • hydrarthrosis/articular/joint effusion
  • arthritis/synovitis/synovial proliferation
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • cartilage destruction/chondrolysis
  • enthesis anomaly/inflammation/enthesitis/enthesopathy
  • tendon rupture/tendinitis/bursitis/tenosynovitis

HPO human phenotypes related to Enthesitis-Related Arthritis:

(show all 7)
id Description Frequency HPO Source Accession
1 arthritis hallmark (90%) HP:0001369
2 joint swelling hallmark (90%) HP:0001386
3 inflammatory abnormality of the eye hallmark (90%) HP:0100533
4 abnormality of the teeth typical (50%) HP:0000164
5 enthesitis typical (50%) HP:0100686
6 cartilage destruction typical (50%) HP:0100773
7 abnormal tendon morphology occasional (7.5%) HP:0100261

Drugs & Therapeutics for Enthesitis-Related Arthritis

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Drug clinical trials:

Search ClinicalTrials for Enthesitis-Related Arthritis

Search NIH Clinical Center for Enthesitis-Related Arthritis

Genetic Tests for Enthesitis-Related Arthritis

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Anatomical Context for Enthesitis-Related Arthritis

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MalaCards organs/tissues related to Enthesitis-Related Arthritis:

33
Eye, Bone, Monocytes, T cells

Animal Models for Enthesitis-Related Arthritis or affiliated genes

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MGI Mouse Phenotypes related to Enthesitis-Related Arthritis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.5IL17C, TLR4, TLR2
2MP:00053818.4IL17C, TLR4, TLR2
3MP:00107718.2IL17C, TLR4, TLR2

Publications for Enthesitis-Related Arthritis

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Articles related to Enthesitis-Related Arthritis:

(show all 46)
idTitleAuthorsYear
1
Tenascin-C Levels, A Toll-like Receptor 4 Ligand, in Enthesitis-related Arthritis Category of Juvenile Idiopathic Arthritis: A Cross-sectional and Longitudinal Study. (25774061)
2015
2
Efficacy and safety of etanercept in enthesitis-related arthritis juvenile idiopathic arthritis: Results from a phase 3 randomized double-blind study. (25891010)
2015
3
Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean? (24564907)
2014
4
Early atlantoaxial subluxation in enthesitis-related arthritis. (24882848)
2014
5
Detection of enthesitis in children with enthesitis-related arthritis: dolorimetry compared to ultrasonography. (24449586)
2014
6
Inflammatory changes of the lumbar spine in children and adolescents with enthesitis-related arthritis: magnetic resonance imaging findings. (24127385)
2014
7
TLR4 endogenous ligand MRP8/14 level in enthesitis-related arthritis and its association with disease activity and TLR4 expression. (24231443)
2014
8
Enthesitis-Related Arthritis: Time to Re-define? (25366933)
2014
9
Altered microbiota associated with abnormal humoral immune responses to commensal organisms in enthesitis-related arthritis. (25434931)
2014
10
Safety and efficacy of etanercept in children with the JIA categories extended oligoarthritis, enthesitis-related arthritis and psoriasis arthritis. (25034081)
2014
11
Lack of association of single nucleotide polymorphisms in toll-like receptors 2 and 4 with enthesitis-related arthritis category of juvenile idiopathic arthritis in Indian population. (22453525)
2013
12
Evaluation and Treatment of Enthesitis-Related Arthritis. (24403667)
2013
13
Detection of enthesitis in children with Enthesitis-related arthritis: Dolorimeter examination compared to ultrasonography. (24114526)
2013
14
Efficacy and safety of open-label etanercept on extended oligoarticular juvenile idiopathic arthritis, enthesitis-related arthritis and psoriatic arthritis: part 1 (week 12) of the CLIPPER study. (23696632)
2013
15
Synovial fluid mononuclear cell gene expression profiling suggests dysregulation of innate immune genes in enthesitis-related arthritis patients. (22763987)
2012
16
Utility of magnetic resonance imaging when following up sacroiliitis in enthesitis-related arthritis. (22310966)
2012
17
Membrane-bound toll-like receptors are overexpressed in peripheral blood and synovial fluid mononuclear cells of enthesitis-related arthritis category of juvenile idiopathic arthritis (JIAa89ERA) patients and lead to secretion of inflammatory mediators. (22302567)
2012
18
A modified juvenile arthritis damage index to improve articular damage assessment in juvenile idiopathic arthritis--enthesitis-related arthritis (JIA-ERA). (22234493)
2012
19
Enthesitis-related arthritis is associated with higher pain intensity and poorer health status in comparison with other categories of juvenile idiopathic arthritis: the Childhood Arthritis and Rheumatology Research Alliance Registry. (23070991)
2012
20
IL1 gene polymorphisms in enthesitis related arthritis category of juvenile idiopathic arthritis (ERA-JIA). (22124790)
2012
21
Diagnosis and treatment of enthesitis-related arthritis. (23236258)
2012
22
Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis. (21281511)
2011
23
Tumor necrosis factor-blocking agents for children with enthesitis-related arthritis--data from the dutch arthritis and biologicals in children register, 1999-2010. (21844151)
2011
24
Attainment of inactive disease status following initiation of TNF-I+ inhibitor therapy for juvenile idiopathic arthritis: enthesitis-related arthritis predicts persistent active disease. (22089470)
2011
25
Expression of Toll-like receptors 2 and 4 is increased in peripheral blood and synovial fluid monocytes of patients with enthesitis-related arthritis subtype of juvenile idiopathic arthritis. (21097451)
2011
26
Evidence of cellular immune response to outer membrane protein of Salmonella typhimurium in patients with enthesitis-related arthritis subtype of juvenile idiopathic arthritis. (21041273)
2011
27
Levels of serum matrix metalloproteinase-3 correlate with disease activity in the enthesitis-related arthritis category of juvenile idiopathic arthritis. (21885500)
2011
28
A child with x-linked agammaglobulinemia and enthesitis-related arthritis. (21760802)
2011
29
Fecal calprotectin in children with the enthesitis-related arthritis subtype of juvenile idiopathic arthritis. (21965700)
2011
30
Enthesitis in an inception cohort of enthesitis-related arthritis. (21618453)
2011
31
Evaluation of MR imaging guided steroid injection of the sacroiliac joints for the treatment of children with refractory enthesitis-related arthritis. (21046404)
2011
32
Nutritional supplementation and dietary restriction in the resolution of enthesitis-related arthritis. (21541080)
2011
33
Early predictors of juvenile sacroiliitis in enthesitis-related arthritis. (20810515)
2010
34
Proteomic analysis of plasma to reveal the impact of short-term etanercept therapy in pediatric patients with enthesitis-related arthritis: a case report. (20402637)
2010
35
Synovial fluid RANKL and matrix metalloproteinase levels in enthesitis related arthritis subtype of juvenile idiopathic arthritis. (19052752)
2009
36
Fistulizing anorectal Crohn disease in a child with severe HLA-B27-associated enthesitis-related arthritis. (19322059)
2009
37
Th1 and Th17 Predominance in the Enthesitis-related Arthritis Form of Juvenile Idiopathic Arthritis. (19531753)
2009
38
Enthesitis-related arthritis in Kikuchi-Fujimoto disease. (18470474)
2008
39
Outcome in patients with enthesitis related arthritis (ERA): juvenile arthritis damage index (JADI) and functional status. (18945336)
2008
40
Chemokine and chemokine receptor analysis reveals elevated interferon-inducible protein-10 (IP)-10/CXCL10 levels and increased number of CCR5+ and CXCR3+ CD4 T cells in synovial fluid of patients with enthesitis-related arthritis (ERA). (17374135)
2007
41
Is the enthesitis-related arthritis subtype of juvenile idiopathic arthritis a form of chronic reactive arthritis? (16522678)
2006
42
Successful treatment with methotrexate of a child with atlantoaxial subluxation from enthesitis-related arthritis. (16762165)
2006
43
Long-term outcome and prognostic factors in enthesitis-related arthritis: a case-control study. (17075863)
2006
44
Radiologic Improvement of juvenile idiopathic arthritis-enthesitis-related arthritis following anti-tumor necrosis factor-alpha blockade with etanercept. (16755667)
2006
45
Elevated concentrations of monocyte derived cytokines in synovial fluid of children with enthesitis related arthritis and polyarticular types of juvenile idiopathic arthritis. (15996076)
2005
46
Prolonged efficacy of etanercept in refractory enthesitis-related arthritis. (15468375)
2004

Variations for Enthesitis-Related Arthritis

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Expression for genes affiliated with Enthesitis-Related Arthritis

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Search GEO for disease gene expression data for Enthesitis-Related Arthritis.

Pathways for genes affiliated with Enthesitis-Related Arthritis

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Pathways related to Enthesitis-Related Arthritis according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9TLR2
2
Show member pathways
9.3IL17C, TLR2
3
Show member pathways
9.0TLR4, TLR2
49.0TLR4, TLR2
5
Show member pathways
9.0TLR2, TLR4
69.0TLR2, TLR4
7
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
9.0TLR2, TLR4
89.0TLR4, TLR2
9
Show member pathways
9.0TLR4, TLR2
109.0TLR4, TLR2
11
Show member pathways
9.0TLR4, TLR2
12
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
9.0TLR2, TLR4
139.0TLR4, TLR2
14
Show member pathways
9.0TLR4, TLR2
159.0TLR2, TLR4
16
Show member pathways
9.0TLR4, TLR2
17
Show member pathways
IL27-mediated signaling events38
9.0TLR2, TLR4
189.0TLR2, TLR4
199.0TLR4, TLR2
209.0TLR2, TLR4
21
Show member pathways
9.0TLR4, TLR2
22
Show member pathways
9.0TLR4, TLR2
239.0TLR4, TLR2
249.0TLR2, TLR4
25
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
9.0TLR4, TLR2
269.0TLR4, TLR2

Compounds for genes affiliated with Enthesitis-Related Arthritis

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Compounds related to Enthesitis-Related Arthritis according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1arabinogalactan459.5TLR4, TLR2
2diaminopimelic acid459.5TLR4, TLR2
3pam2csk4619.5TLR2, TLR4
4pam3csk4619.5TLR2, TLR4
5poly(i:c)619.5TLR2, TLR4
6loxoribine45 3010.4TLR2, TLR4
7glucuronoxylomannan459.4TLR4, TLR2
8resiquimod45 6110.4TLR2, TLR4
9muramyl dipeptide45 3010.4TLR4, TLR2
10hbd2459.4TLR4, TLR2
11lauric acid45 3010.4TLR2, TLR4
12flagellin45 3010.4TLR4, TLR2
13zymosan459.4TLR4, TLR2
14imiquimod45 61 30 1312.4TLR2, TLR4
15mannan459.4TLR4, TLR2
16docosahexaenoic acid45 30 2611.4TLR4, TLR2
17polymyxin b459.4TLR2, TLR4
18lipoteichoic acid459.4TLR4, TLR2
19polyinosinic-polycytidylic acid459.4TLR4, TLR2
20poly(i-c)459.4TLR2, TLR4
21il 10459.4TLR4, TLR2
22glycolipid459.4TLR2, TLR4
23anti-fungal459.4TLR4, TLR2
24peptidoglycan45 3010.4TLR4, TLR2
25ccl345 3010.4TLR2, TLR4
26latex459.3TLR4, TLR2
27palmitate459.3TLR2, TLR4
28agarose459.3TLR4, TLR2
29simvastatin45 51 61 30 26 1314.3TLR4, TLR2
30mannose459.3TLR2, TLR4
31endotoxin459.3TLR4, TLR2
32tacrolimus45 51 1311.3TLR2, TLR4
33calcitriol45 61 26 1312.3TLR4, TLR2
34rantes459.2TLR4, TLR2
35sb 20358045 6110.2TLR2, TLR4
36polysaccharide459.2TLR4, TLR2
37vitamin d459.1TLR2, TLR4
38fibrinogen459.1TLR4, TLR2
39phospholipid459.0TLR4, TLR2
40actinomycin d459.0TLR4, TLR2
41histamine45 30 2610.9TLR2, TLR4
42wortmannin458.7TLR4, TLR2

GO Terms for genes affiliated with Enthesitis-Related Arthritis

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Cellular components related to Enthesitis-Related Arthritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.0TLR4, TLR2

Biological processes related to Enthesitis-Related Arthritis according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of macrophage cytokine productionGO:00609079.4TLR4, TLR2
2cellular response to lipoteichoic acidGO:00712239.4TLR4, TLR2
3negative regulation of interleukin-17 productionGO:00327009.4TLR4, TLR2
4positive regulation of tumor necrosis factor biosynthetic processGO:00425359.4TLR2, TLR4
5I-kappaB phosphorylationGO:00072529.4TLR4, TLR2
6positive regulation of nitric-oxide synthase biosynthetic processGO:00517709.4TLR4, TLR2
7positive regulation of chemokine productionGO:00327229.4TLR2, TLR4
8positive regulation of interleukin-10 productionGO:00327339.4TLR4, TLR2
9positive regulation of NF-kappaB import into nucleusGO:00423469.4TLR4, TLR2
10positive regulation of interleukin-8 productionGO:00327579.3TLR4, TLR2
11positive regulation of interferon-beta productionGO:00327289.3TLR2, TLR4
12positive regulation of interleukin-12 productionGO:00327359.3TLR4, TLR2
13lipopolysaccharide-mediated signaling pathwayGO:00316639.3TLR4, TLR2
14positive regulation of nitric oxide biosynthetic processGO:00454299.3TLR2, TLR4
15positive regulation of tumor necrosis factor productionGO:00327609.3TLR4, TLR2
16positive regulation of interleukin-6 productionGO:00327559.3TLR4, TLR2
17positive regulation of inflammatory responseGO:00507299.3TLR2, TLR4
18toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.2TLR4, TLR2
19toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.2TLR4, TLR2
20toll-like receptor 2 signaling pathwayGO:00341349.2TLR2, TLR4
21MyD88-dependent toll-like receptor signaling pathwayGO:00027559.1TLR4, TLR2
22toll-like receptor 4 signaling pathwayGO:00341429.1TLR4, TLR2
23toll-like receptor signaling pathwayGO:00022249.0TLR2, TLR4
24immune responseGO:00069559.0TLR4, TLR2
25inflammatory responseGO:00069549.0IL17C, TLR2
26positive regulation of NF-kappaB transcription factor activityGO:00510928.9TLR4, TLR2

Molecular functions related to Enthesitis-Related Arthritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048729.0TLR4, TLR2
2lipopolysaccharide receptor activityGO:00018758.9TLR4, TLR2
3transmembrane signaling receptor activityGO:00048888.7TLR4, TLR2

Products for genes affiliated with Enthesitis-Related Arthritis

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Sources for Enthesitis-Related Arthritis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet