Enthesitis-Related Arthritis (ERA) malady

Eye diseases, Respiratory diseases, Bone diseases categories

Summaries for Enthesitis-Related Arthritis

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MalaCards: Enthesitis-Related Arthritis, also known as juvenile spondylarthropathy, is related to arthritis and hepatitis, and has symptoms including tendon rupture/tendinitis/bursitis/tenosynovitis, enthesis anomaly/inflammation/enthesitis/enthesopathy and cartilage destruction/chondrolysis. An important gene associated with Enthesitis-Related Arthritis is ERAP1 (endoplasmic reticulum aminopeptidase 1), and among its related pathways are ATF-2 transcription factor network and TGF-Beta Pathway. The compounds pge2 and gm-csf have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related mouse phenotypes are respiratory system and skeleton.

Aliases & Classifications for Enthesitis-Related Arthritis

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48Orphanet, 26ICD10 via Orphanet
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Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Respiratory diseases, Bone diseases

Characteristics (Orphanet epidemiological data):

enthesitis-related arthritis:
Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal

Aliases & Descriptions:

enthesitis-related arthritis 48
juvenile spondylarthropathy 48
era 48

External Ids:

ICD10 via Orphanet26 M08.1

Related Diseases for Enthesitis-Related Arthritis

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17GeneCards, 18GeneDecks
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Diseases related to Enthesitis-Related Arthritis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 526)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.4MMP3, IL6, IL8, TNFSF11, TIMP1
3leukemia30.6TLR4, TLR2, IFNG, IL4, IL6, IL2
4prostate cancer30.5IL6, TNFSF11
5psoriatic arthritis30.5TLR2, TNFSF11, MMP3, MMP1
6meningitis30.4TLR2, IL8, IL6
7myeloid leukemia30.4TLR4
8acquired immunodeficiency syndrome30.3IL2, IL6
9tuberculosis30.3TLR4, TLR2, IFNG, IL4, IL2
10hepatitis c30.3TLR4, TLR2, IFNG
11acute myocardial infarction30.3TNFSF11
12agammaglobulinemia30.3IL4, IL2
14breast cancer30.2TIMP1, TNFSF11, IL2, MMP3, MMP1
15hepatitis b30.2TLR4, IFNG, IL2, MMP3
16pneumonia30.2IL6, IL8, TLR2, TLR4
18adenocarcinoma30.1ERAP1, TNFSF11, TIMP1
19myeloma30.1IL2, IL6, IL4, TNFSF11
20hepatocellular carcinoma30.1TIMP1, TLR4, TLR2, TNFSF11, IL6
22abdominal aortic aneurysm30.1MMP1, MMP3, TIMP1
23multiple myeloma30.1TNFSF11, IL6
24biliary atresia30.0TIMP1
25rheumatoid arthritis30.0TIMP1, TLR4, MMP1, MMP3, IL23R, IL2
26duodenal ulcer30.0IL8
27otitis media30.0TLR2
29leprosy30.0TLR2, IL2
30cystic fibrosis30.0IL8, TLR4
31schistosomiasis30.0IFNG, IL4
32bacterial meningitis30.0TLR2, IL8
33vascular disease30.0TIMP1, IL8, IL6, IL2, MMP3
34multiple sclerosis30.0IL2, IL6, IL4, IFNG, TIMP1
35atherosclerosis30.0TIMP1, TLR4, TLR2, IL8, IL6, MMP3
36crohn's disease29.9IL23R
38kidney cancer29.9IL2
40herpes simplex29.9TLR2
41colorectal cancer29.9TLR4, TLR2
42melanoma29.9TIMP1, TLR4, IFNG, TNFSF11, IL4, IL8
43ulcerative colitis29.9IFNG, TLR2, TLR4, TNFSF11, IL4, MMP1
45dilated cardiomyopathy29.8MMP1
46malignant glioma29.8IL2
47bronchiolitis obliterans29.8IL8
48pancreatic cancer29.8IL8
50diabetes mellitus29.8MMP3, IL6

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

Diseases related to enthesitis-related arthritis

Clinical Features for Enthesitis-Related Arthritis

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

Drugs & Therapeutics for Enthesitis-Related Arthritis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Enthesitis-Related Arthritis

Drug clinical trials:

Search ClinicalTrials for Enthesitis-Related Arthritis

Search NIH Clinical Center for Enthesitis-Related Arthritis

Search CenterWatch 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:

Bone, Eye

Animal Models for Enthesitis-Related Arthritis or affiliated genes

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MGI Mouse Phenotypes related to Enthesitis-Related Arthritis:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
2MP:00053909.2MMP3, IL6, IL4, TNFSF11
3MP:00020069.0TIMP1, IFNG, IL6, IL2
4MP:00053678.5TLR4, TLR2, ERAP1
5MP:00053798.1TLR2, IFNG, IL4, IL6, IL2
6MP:00107717.7TLR4, TLR2, TNFSF11, IL17C, IL6
7MP:00053707.2IL2, IL6, IL4, IFNG, TLR2, TLR4
8MP:00053767.0TLR4, TLR2, IFNG, TNFSF11, IL17C, IL4
9MP:00053817.0TLR4, TLR2, IFNG, IL17C, IL4, IL6
10MP:00053786.7IL2, IL6, IL4, TNFSF11, IFNG, TLR2
11MP:00053846.2TLR4, TLR2, IFNG, TNFSF11, IL17C, IL4
12MP:00053975.5TNFSF11, IFNG, TLR2, TLR4, TIMP1, IL17C
13MP:00053875.3ERAP1, TIMP1, TLR4, TLR2, IFNG, TNFSF11

Publications for Enthesitis-Related Arthritis

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Genetic Variations for Enthesitis-Related Arthritis

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Expression for genes affiliated with Enthesitis-Related Arthritis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Enthesitis-Related Arthritis

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

Pathways for genes affiliated with Enthesitis-Related Arthritis

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37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 52R&D Systems, 53Reactome, 29KEGG, 59Tocris Bioscience
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Pathways related to Enthesitis-Related Arthritis according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
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9.8TIMP1, IL2
Transcription Role of VDR in regulation of genes involved in osteoporosis
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9.7IL23R, IL6
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9.6IL23R, TNFSF11, TIMP1
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9.6TIMP1, TNFSF11, IL23R
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9.6MMP1, MMP3, TIMP1
Cell adhesion ECM remodeling
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9.6MMP1, MMP3, TIMP1
99.4TIMP1, TNFSF11, IL6
Immune response Oncostatin M signaling via JAK-Stat in human cells
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9.3TIMP1, IL6, MMP1
119.3IL2, IL4, IFNG
129.3IL2, IL4, IFNG
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9.3IFNG, IL4, IL2
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9.3IL2, IL4, IFNG
159.2IL8, IL6, MMP1
Mucin expression in CF via IL-6, IL-17 signaling pathways
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9.1IL17C, TLR2
179.0TLR2, TLR4
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9.0IL23R, TNFSF11, TLR4, TIMP1
198.9IL6, IL8, TLR4
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8.9IFNG, IL4, IL8, IL2
218.8TNFSF11, TLR2, TLR4
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8.7TLR4, TLR2, IL23R
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8.7TIMP1, IL6, IL2, MMP3, MMP1
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8.7TLR4, TLR2, IL2
Cytokine production by Th17 cells in CF (Mouse model)
8.6TLR4, IL8, IL6, IL23R
268.6TLR4, IL4, IL6, IL2
278.6IFNG, TLR2, TLR4
288.6TIMP1, TLR4, IFNG, IL6
Development PDGF signaling via STATs and NF-kB
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8.5TIMP1, IFNG, IL6, IL2, IL23R
308.5IFNG, IL4, IL6, IL2, IL23R
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8.5IL6, IL8, IFNG, TLR4
328.5TLR4, IFNG, IL8, IL6
338.4IFNG, IL8, IL6, IL2, MMP1
348.4IFNG, IL4, IL8, IL6, IL2
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8.2IL6, TLR2, TLR4, TIMP1
368.1TLR2, TNFSF11, IL4, IL8, IL6
378.1TLR4, TLR2, IL8, IL6
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8.1TLR4, TLR2, IL8, IL6
398.1IFNG, IL4, IL8, IL6, IL2, MMP1
408.1IL6, IFNG, TLR2, TLR4
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7.9TLR4, TLR2, IFNG, IL4, IL2
427.8TLR4, TLR2, IL4, IL6, IL2
437.8TLR4, TLR2, IL4, IL8, IL6
447.8TLR4, TLR2, IFNG, IL6, MMP1
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7.7TLR4, TLR2, IFNG, IL6, IL2
467.6TLR4, TLR2, IFNG, IL8, IL6
Immune response Bacterial infections in normal airways
7.6TLR4, TLR2, IFNG, IL8, IL6
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7.3TLR4, TLR2, IFNG, IL8, IL6, IL2
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6.9TLR4, TLR2, IFNG, IL4, IL8, IL6
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6.5TIMP1, TLR4, TLR2, TNFSF11, IL4, IL8

Compounds for genes affiliated with Enthesitis-Related Arthritis

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44Novoseek, 28IUPHAR, 11DrugBank, 2BitterDB, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to Enthesitis-Related Arthritis according to GeneCards/GeneDecks:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
2gm-csf44 2811.4IFNG
3pentoxifylline44 1111.2MMP1, IL4
4hydrocortisone44 2 59 1113.1IL8, MMP1
6cyclosporin a44 28 5911.9IFNG, TNFSF11, MMP1
7prostaglandin449.9MMP1, MMP3, TNFSF11
8prednisolone44 28 1111.8MMP3, MMP1
9lxa4449.5MMP3, IL8, MMP1, IL4
10tepoxalin449.3IL2, IL8, IL6
11u0126449.2IL8, IL6, MMP1, TIMP1
12mip 1alpha449.2IL6, IL8, IL4, TNFSF11
13leflunomide49 44 1111.2MMP1, IL6, TNFSF11, TIMP1, MMP3
14alendronate44 49 1111.0TNFSF11, MMP3, TIMP1, MMP1
15ribavirin44 49 1111.0IL4, IL2, MMP1, IFNG, TIMP1
16zoledronic acid448.9MMP1, IFNG, TNFSF11, IL6, IL2
17okt3448.8IL6, IFNG, IL4, IL2
18triptolide448.8MMP3, IL2, IL6, IL8, IFNG
19taurine chloramine448.8IL2, IL6, IL8, TIMP1, IFNG
20il-12448.8IL2, IL6, IL8, IL4, IFNG
21hcec448.6IL6, IL8, TLR2, MMP3
22neopterin448.6IL2, IL6, IL8, IL4, IFNG
23hbd2448.4IL8, IL6, TLR2, TLR4
24etanercept44 49 1110.4MMP1, MMP3, IL8, IL6, TNFSF11, IFNG
25dexamethasone44 49 28 1111.3TLR4, TIMP1, TNFSF11, TLR2, IL6
26sp 60012544 599.3IL8, IL6, MMP1, TNFSF11, TLR2
27tacrolimus44 49 1110.3IL2, TIMP1, TLR2, IFNG, IL4, TNFSF11
28pdtc448.2IL6, TLR4, IL4, IL8, MMP1, IFNG
29peptidoglycan44 289.1TNFSF11, IL6, IL8, TLR4, TLR2
30herbimycin a44 599.1IFNG, TIMP1, IL4, IL8, IL2, MMP1
31lipoteichoic acid448.1IL6, IL8, TLR2, TLR4
32imiquimod44 28 59 1111.0TLR4, IFNG, IL6, IL8, TLR2
33pd 98,059447.9TNFSF11, MMP3, MMP1, IL8, TLR2, TIMP1
34ccl344 288.9TLR4, TLR2, IL6, IL8, IFNG
35n acetylcysteine447.8MMP3, MMP1, IL8, IL6, IL4, TNFSF11
36infliximab44 49 119.8IFNG, TLR4, TIMP1, TNFSF11, IL4, IL6
37rantes447.8IL2, TLR4, TLR2, IFNG, IL4, IL6
38poly(i-c)447.7TLR2, IFNG, TLR4, IL6, IL8, IL4
39vitamin d447.7TNFSF11, TLR2, MMP3, TIMP1, IL6, TLR4
40polymyxin b447.5IL6, IL8, IL4, TNFSF11, TLR4, TLR2
41simvastatin44 49 59 28 11 2412.4IL8, IL4, IFNG, IL6, TLR4, MMP3
42polyinosinic-polycytidylic acid447.4IL2, IL4, IL8, IL6, IFNG, TLR2
43genistein44 28 59 2 11 2412.4IL2, TIMP1, IFNG, TLR4, TNFSF11, IL6
44il 10447.4TLR2, IL4, IL8, IL6, IL2, IFNG
45actinomycin d447.0IFNG, IL2, TLR2, TLR4, TIMP1, IL4
46cysteine446.9TNFSF11, TIMP1, TLR4, TLR2, MMP3, IL4
47calcitriol44 59 11 249.9TIMP1, TLR4, TLR2, IFNG, TNFSF11, IL4
48histamine44 28 248.8TLR2, IFNG, TIMP1, TLR4, MMP3, IL2
49sb 20358044 597.6MMP3, IL6, IL8, IL4, TNFSF11, IFNG
50vegf446.0TLR2, IL4, TIMP1, TLR4, TNFSF11, IFNG

GO Terms for genes affiliated with Enthesitis-Related Arthritis

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16Gene Ontology
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Cellular components related to Enthesitis-Related Arthritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098977.7IL6, IL4, IFNG, TLR2, TLR4
2extracellular spaceGO:0056157.2MMP3, IFNG, TNFSF11, IL17C, IL4, IL8
3extracellular regionGO:0055767.0TIMP1, IFNG, TNFSF11, IL8, IL6, IL2

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-17 productionGO:03274010.0IL2, IL23R
2positive regulation of chemokine biosynthetic processGO:0450809.9IL4, IFNG
3positive regulation of immunoglobulin secretionGO:0510249.9IL6, IL2
4positive regulation of osteoclast differentiationGO:0456729.9IFNG, TNFSF11, IL23R
5positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.9IL4, IL23R, IL2
6positive regulation of activated T cell proliferationGO:0421049.9IL23R, IL2, IL4
7extracellular matrix disassemblyGO:0226179.9TIMP1, MMP3, MMP1
8neutrophil apoptotic processGO:0017819.8IL6, IFNG
9positive regulation of isotype switching to IgG isotypesGO:0483049.7IFNG, IL4, IL2
10positive regulation of interleukin-12 biosynthetic processGO:0450849.7TLR4, IFNG
11positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.6IL6, IL4, TNFSF11
12monocyte chemotaxisGO:0025489.6TNFSF11, IL6
13positive regulation of interferon-gamma productionGO:0327299.6TLR4, IL2, IL23R
14defense response to protozoanGO:0428329.5IFNG, IL4, IL6
15positive regulation of interleukin-10 productionGO:0327339.5TLR4, IL4
16negative regulation of osteoclast differentiationGO:0456719.5IL4, TLR4
17positive regulation of B cell proliferationGO:0308909.5TLR4, IL4, IL2
18positive regulation of MHC class II biosynthetic processGO:0453489.5TLR4, IFNG, IL4
19defense response to Gram-negative bacteriumGO:0508299.4TLR4, IL6, IL23R
20positive regulation of macrophage cytokine productionGO:0609079.4TLR4, TLR2
21cellular response to lipoteichoic acidGO:0712239.3TLR4, TLR2
22cellular response to lipopolysaccharideGO:0712229.3IL8, IFNG, TLR4
23positive regulation of T cell proliferationGO:0421029.3IL23R, IL6, IL4, IFNG
24negative regulation of growth of symbiont in hostGO:0441309.3IFNG, TLR2
25positive regulation of tumor necrosis factor biosynthetic processGO:0425359.3TLR2, TLR4
26positive regulation of nitric-oxide synthase biosynthetic processGO:0517709.2TLR4, TLR2
27I-kappaB phosphorylationGO:0072529.2TLR4, TLR2
28response to lipopolysaccharideGO:0324969.2TLR4, IL6, IL23R
29positive regulation of inflammatory responseGO:0507299.0IL2, TLR2, TLR4
30negative regulation of interleukin-17 productionGO:0327009.0IFNG, TLR2, TLR4
31positive regulation of tumor necrosis factor productionGO:0327608.9IFNG, TLR2, TLR4
32positive regulation of chemokine productionGO:0327228.9IL6, TLR2, TLR4
33positive regulation of interleukin-6 productionGO:0327558.9TLR4, TLR2, IL6
34positive regulation of NF-kappaB import into nucleusGO:0423468.7TLR2, TLR4
35positive regulation of interleukin-12 productionGO:0327358.7IL23R, IFNG, TLR2, TLR4
36positive regulation of NF-kappaB transcription factor activityGO:0510928.6TLR4, TLR2, TNFSF11, IL6
37positive regulation of nitric oxide biosynthetic processGO:0454298.5IL6, IFNG, TLR2, TLR4
38inflammatory responseGO:0069548.3IL23R, IL6, IL8, IL17C, TLR2
39immune responseGO:0069558.0TLR4, TLR2, TNFSF11, IL4, IL8, IL2
40positive regulation of transcription from RNA polymerase II promoterGO:0459447.5TLR4, TLR2, IFNG, TNFSF11, IL4, IL6

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-6 receptor bindingGO:0051389.7ERAP1, IL6
2lipopolysaccharide receptor activityGO:0018758.7TLR2, TLR4
3cytokine activityGO:0051257.9IL2, IFNG, TNFSF11, IL17C, IL4, IL6

Products for genes affiliated with Enthesitis-Related Arthritis

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  • Antibodies
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Sources for Enthesitis-Related Arthritis

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet