MCID: ENT015
MIFTS: 38

Enthesitis-Related Arthritis malady

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

Aliases & Classifications for Enthesitis-Related Arthritis

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Enthesitis-Related Arthritis:

Name: Enthesitis-Related Arthritis 51
Juvenile Spondylarthropathy 51
 
Era 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
enthesitis-related arthritis:
Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Orphanet51 85438
ICD10 via Orphanet28 M08.1

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 TLR4 (Toll-Like Receptor 4), and among its related pathways are MSP-RON Signaling and MIF Action Through Endocytic Pathway. Affiliated tissues include eye, bone and t cells, and related mouse phenotypes are homeostasis/metabolism and hematopoietic system.

Related Diseases for Enthesitis-Related Arthritis

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Diseases related to Enthesitis-Related Arthritis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis11.1
2enthesitis-related juvenile idiopathic arthritis10.5
3spondylarthropathy10.4
4psoriatic arthritis10.4
5spondylitis10.4
6juvenile psoriatic arthritis10.4
7atlantoaxial subluxation10.4
8rheumatoid arthritis10.3
9acute conjunctivitis10.2TLR2, TLR4
10corneal granular dystrophy10.2TLR2, TLR4
11atopy10.2
12spondyloarthropathy 110.2
13autoimmune disease 210.2
14autoimmune disease 310.2
15joint disorders10.2
16autoimmune disease of musculoskeletal system10.2
17inflammatory spondylopathy10.2
18reactive arthritis10.2
19juvenile rheumatoid arthritis10.2
20agammaglobulinemia10.2
21arthropathy10.2
22connective tissue disease10.2
23enthesopathy10.2
24hypersensitivity reaction type ii disease10.2
25psoriasis10.2
26back pain10.2
27protein r deficiency10.2TLR2, TLR4
28periocular meningioma10.2TLR2, TLR4
29supraglottis cancer10.2TLR2, TLR4
30anti-hla hyperimmunization10.2TLR2, TLR4
31hyper-reninism10.2TLR2, TLR4
32radiation cystitis10.2TLR2, TLR4
33chronic polyneuropathy10.2TLR2, TLR4
34neonatal adrenoleukodystrophy10.2TLR2, TLR4
35migraine with aura10.2TLR2, TLR4
36metagonimiasis10.2TLR2, TLR4
37epiphora due to insufficient drainage10.2TLR2, TLR4
38diversion colitis10.2TLR2, TLR4
39myelocerebellar disorder10.2TLR2, TLR4
40irak4 deficiency10.2TLR2, TLR4
41pelvic varices10.2TLR2, TLR4
42adiaspiromycosis10.2TLR2, TLR4
43melioidosis10.2TLR2, TLR4
44blastomycosis10.1TLR2, TLR4
45leiomyoma10.1TLR2, TLR4
46balanitis10.1TLR2, TLR4
47x-linked reticulate pigmentary disorder with systemic manifestations10.1ERAP1, IL23R
48sarcoidosis, early-onset10.1MEFV, TLR2, TLR4
49bubonic plague10.1MEFV, TLR4
50focal chorioretinitis10.0TLR2, TLR4

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:

 51 (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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Drugs for Enthesitis-Related Arthritis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AdalimumabapprovedPhase 3411331731-18-116219006
Synonyms:
331731-18-1
Adalimumab
Adalimumab (USAN/INN)
Adalimumab (genetical recombination)
 
Adalimumab (genetical recombination) (JAN)
D02597
Humira
Humira (TN)
Humira Pen
Ig gamma-1 chain C region
2
Certolizumab pegolapprovedPhase 3109428863-50-7
Synonyms:
428863-50-7
CDP870
Certolizumab pegol
 
Certolizumab pegol (USAN/INN)
Certolizumab pegol (genetical recombination)
Certolizumab pegol (genetical recombination) (JAN)
Cimzia
D03441
3TNFR-Fc fusion proteinPhase 3367
4Immunoglobulin Fab FragmentsPhase 385

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of the Efficacy and Safety of Adalimumab in Pediatric Subjects With Enthesitis Related ArthritisCompletedNCT01166282Phase 3
2Study Evaluating Etanercept in 3 Subtypes of Childhood ArthritisCompletedNCT00962741Phase 3
3Extension Study Evaluating Etanercept in 3 Subtypes of Childhood ArthritisActive, not recruitingNCT01421069Phase 3
4Pediatric Arthritis Study of Certolizumab PegolActive, not recruitingNCT01550003Phase 3
5Juvenile Arthritis Quantitative ImagingRecruitingNCT02684695
6Natural History and Development of SpondyloarthritisRecruitingNCT01422694
7Observational Study of Pediatric Rheumatic Diseases: The CARRA RegistryRecruitingNCT02418442

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, T cells, Monocytes

Animal Models for Enthesitis-Related Arthritis or affiliated genes

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MGI Mouse Phenotypes related to Enthesitis-Related Arthritis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1IL17C, IL23A, IL23R, MEFV, S100A9, TLR2
2MP:00053976.6ERAP1, IL17C, IL23A, IL23R, MEFV, S100A9
3MP:00053876.3ERAP1, IL17C, IL23A, IL23R, MEFV, S100A9

Publications for Enthesitis-Related Arthritis

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Articles related to Enthesitis-Related Arthritis:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Enthesitis-related arthritis. (26233720)
2015
2
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
3
Efficacy and safety of etanercept in enthesitis-related arthritis juvenile idiopathic arthritis: Results from a phase 3 randomized double-blind study. (25891010)
2015
4
HLA-B27 subtypes in enthesitis-related arthritis category of juvenile idiopathic arthritis and ankylosing spondylitis in northern India. (26314893)
2015
5
Diagnositic value of pelvic enthesitis on MRI of the sacroiliac joints in enthesitis related arthritis. (26554668)
2015
6
Natural killer cell and gamma delta T cell alterations in enthesitis related arthritis category of juvenile idiopathic arthritis. (26244610)
2015
7
A Randomized, Double-Blind, Placebo-Controlled Multicenter Study of Adalimumab in Pediatric Patients With Enthesitis-Related Arthritis. (26223543)
2015
8
Atopy in children with the enthesitis-related arthritis (ERA) subtype of juvenile idiopathic arthritis is associated with a worse outcome. (25935591)
2015
9
Fever as an initial manifestation of enthesitis-related arthritis subtype of juvenile idiopathic arthritis: retrospective study. (26030261)
2015
10
Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean? (24564907)
2014
11
Early atlantoaxial subluxation in enthesitis-related arthritis. (24882848)
2014
12
Association of microRNA-146a and its target gene IRAK1 polymorphism with enthesitis related arthritis category of juvenile idiopathic arthritis. (24719227)
2014
13
Detection of enthesitis in children with enthesitis-related arthritis: dolorimetry compared to ultrasonography. (24449586)
2014
14
Inflammatory changes of the lumbar spine in children and adolescents with enthesitis-related arthritis: magnetic resonance imaging findings. (24127385)
2014
15
TLR4 endogenous ligand MRP8/14 level in enthesitis-related arthritis and its association with disease activity and TLR4 expression. (24231443)
2014
16
Enthesitis-Related Arthritis: Time to Re-define? (25366933)
2014
17
Altered microbiota associated with abnormal humoral immune responses to commensal organisms in enthesitis-related arthritis. (25434931)
2014
18
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
19
Evaluation and Treatment of Enthesitis-Related Arthritis. (24403667)
2013
20
Detection of enthesitis in children with Enthesitis-related arthritis: Dolorimeter examination compared to ultrasonography. (24114526)
2013
21
Synovial fluid mononuclear cell gene expression profiling suggests dysregulation of innate immune genes in enthesitis-related arthritis patients. (22763987)
2012
22
Utility of magnetic resonance imaging when following up sacroiliitis in enthesitis-related arthritis. (22310966)
2012
23
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
24
A modified juvenile arthritis damage index to improve articular damage assessment in juvenile idiopathic arthritis--enthesitis-related arthritis (JIA-ERA). (22234493)
2012
25
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
26
IL1 gene polymorphisms in enthesitis related arthritis category of juvenile idiopathic arthritis (ERA-JIA). (22124790)
2012
27
Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis. (21281511)
2011
28
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
29
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
30
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
31
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
32
Levels of serum matrix metalloproteinase-3 correlate with disease activity in the enthesitis-related arthritis category of juvenile idiopathic arthritis. (21885500)
2011
33
A child with x-linked agammaglobulinemia and enthesitis-related arthritis. (21760802)
2011
34
Fecal calprotectin in children with the enthesitis-related arthritis subtype of juvenile idiopathic arthritis. (21965700)
2011
35
Enthesitis in an inception cohort of enthesitis-related arthritis. (21618453)
2011
36
Evaluation of MR imaging guided steroid injection of the sacroiliac joints for the treatment of children with refractory enthesitis-related arthritis. (21046404)
2011
37
Early predictors of juvenile sacroiliitis in enthesitis-related arthritis. (20810515)
2010
38
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
39
Synovial fluid RANKL and matrix metalloproteinase levels in enthesitis related arthritis subtype of juvenile idiopathic arthritis. (19052752)
2009
40
Fistulizing anorectal Crohn disease in a child with severe HLA-B27-associated enthesitis-related arthritis. (19322059)
2009
41
Th1 and Th17 Predominance in the Enthesitis-related Arthritis Form of Juvenile Idiopathic Arthritis. (19531753)
2009
42
Enthesitis-related arthritis in Kikuchi-Fujimoto disease. (18470474)
2008
43
Outcome in patients with enthesitis related arthritis (ERA): juvenile arthritis damage index (JADI) and functional status. (18945336)
2008
44
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
45
Is the enthesitis-related arthritis subtype of juvenile idiopathic arthritis a form of chronic reactive arthritis? (16522678)
2006
46
Successful treatment with methotrexate of a child with atlantoaxial subluxation from enthesitis-related arthritis. (16762165)
2006
47
Long-term outcome and prognostic factors in enthesitis-related arthritis: a case-control study. (17075863)
2006
48
Radiologic Improvement of juvenile idiopathic arthritis-enthesitis-related arthritis following anti-tumor necrosis factor-alpha blockade with etanercept. (16755667)
2006
49
Elevated concentrations of monocyte derived cytokines in synovial fluid of children with enthesitis related arthritis and polyarticular types of juvenile idiopathic arthritis. (15996076)
2005
50
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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GO Terms for genes affiliated with Enthesitis-Related Arthritis

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Cellular components related to Enthesitis-Related Arthritis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of plasma membraneGO:00312269.9TLR2, TLR4

Biological processes related to Enthesitis-Related Arthritis according to GeneCards Suite gene sharing:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1regulation of dendritic cell cytokine productionGO:000273010.5TLR2, TLR4
2negative regulation of interleukin-17 productionGO:003270010.5TLR2, TLR4
3I-kappaB phosphorylationGO:000725210.5TLR2, TLR4
4positive regulation of chemokine productionGO:003272210.5TLR2, TLR4
5positive regulation of nitric-oxide synthase biosynthetic processGO:005177010.5TLR2, TLR4
6positive regulation of tumor necrosis factor biosynthetic processGO:004253510.4TLR2, TLR4
7positive regulation of interferon-beta productionGO:003272810.4TLR2, TLR4
8negative regulation of interleukin-12 productionGO:003269510.4MEFV, TLR2
9lipopolysaccharide-mediated signaling pathwayGO:003166310.4TLR2, TLR4
10positive regulation of interleukin-8 productionGO:003275710.4TLR2, TLR4
11positive regulation of macrophage cytokine productionGO:006090710.3TLR2, TLR4
12cellular response to lipoteichoic acidGO:007122310.3TLR2, TLR4
13positive regulation of tyrosine phosphorylation of Stat4 proteinGO:004252010.3IL23A, IL23R
14positive regulation of NK T cell activationGO:005113510.3IL23A, IL23R
15positive regulation of T-helper 17 cell lineage commitmentGO:200033010.3IL23A, IL23R
16negative regulation of interleukin-10 productionGO:003269310.3IL23A, IL23R
17regulation of tyrosine phosphorylation of Stat1 proteinGO:004251010.3IL23A, IL23R
18positive regulation of natural killer cell proliferationGO:003281910.3IL23A, IL23R
19positive regulation of T-helper 17 type immune responseGO:200031810.3IL23A, IL23R
20positive regulation of interleukin-17 productionGO:003274010.3IL23A, IL23R
21positive regulation of T cell mediated cytotoxicityGO:000191610.2IL23A, IL23R
22positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.2IL23A, IL23R
23positive regulation of T-helper 1 type immune responseGO:000282710.2IL23A, IL23R
24positive regulation of granulocyte macrophage colony-stimulating factor productionGO:003272510.2IL23A, IL23R
25positive regulation of interleukin-6 productionGO:003275510.2TLR2, TLR4
26positive regulation of interleukin-10 productionGO:003273310.2IL23A, TLR4
27positive regulation of activation of JAK2 kinase activityGO:001053510.2IL23A, IL23R
28positive regulation of memory T cell differentiationGO:004338210.1IL23A, IL23R
29positive regulation of activated T cell proliferationGO:004210410.1IL23A, IL23R
30positive regulation of tyrosine phosphorylation of Stat3 proteinGO:004251710.0IL23A, IL23R
31positive regulation of osteoclast differentiationGO:004567210.0IL23A, IL23R
32positive regulation of nitric oxide biosynthetic processGO:004542910.0TLR2, TLR4
33positive regulation of NF-kappaB import into nucleusGO:00423469.9IL23A, TLR2, TLR4
34positive regulation of interferon-gamma productionGO:00327299.9IL23A, IL23R, TLR4
35defense response to Gram-negative bacteriumGO:00508299.8IL23A, IL23R, TLR4
36positive regulation of tumor necrosis factor productionGO:00327609.7IL23A, TLR2, TLR4
37response to bacteriumGO:00096179.6ERAP1, TLR2, TLR4
38positive regulation of interleukin-12 productionGO:00327359.5IL23A, IL23R, TLR2, TLR4
39positive regulation of NF-kappaB transcription factor activityGO:00510929.5S100A9, TLR2, TLR4
40response to lipopolysaccharideGO:00324969.4IL23R, S100A9, TLR4
41positive regulation of inflammatory responseGO:00507299.0IL23A, S100A9, TLR2, TLR4
42innate immune responseGO:00450878.1IL23A, MEFV, S100A9, TLR2, TLR4
43inflammatory responseGO:00069547.8IL17C, IL23A, IL23R, MEFV, S100A9, TLR2

Molecular functions related to Enthesitis-Related Arthritis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lipopolysaccharide receptor activityGO:00018759.9TLR2, TLR4
2lipopolysaccharide bindingGO:00015309.9TLR2, TLR4
3interleukin-6 receptor bindingGO:00051389.1ERAP1, IL23A

Sources for Enthesitis-Related Arthritis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet