MCID: ENT010
MIFTS: 18

Enthesitis-Related Juvenile Idiopathic Arthritis malady

Categories: Rare diseases, Eye diseases, Respiratory diseases, Bone diseases

Aliases & Classifications for Enthesitis-Related Juvenile Idiopathic Arthritis

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Enthesitis-Related Juvenile Idiopathic Arthritis:

Name: Enthesitis-Related Juvenile Idiopathic Arthritis 45
Enthesitis-Related Arthritis 45 51 65
Juvenile Spondylarthropathy 45 51
 
Era 45 51
Enthesitis Related Arthritis, Juvenile 45
Juvenile Enthesitis-Related Arthritis 45

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 85438
ICD10 via Orphanet28 M08.1
UMLS65 C3495919

Summaries for Enthesitis-Related Juvenile Idiopathic Arthritis

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NIH Rare Diseases:45 Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. the knee and the back of the ankle (at the achilles tendon) are the most commonly affected parts of the body. the underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). it is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. treatment usually involves different types of medications to help manage symptoms and/or physical therapy. last updated: 11/23/2015

MalaCards based summary: Enthesitis-Related Juvenile Idiopathic Arthritis, also known as enthesitis-related arthritis, is related to cervicitis and rheumatoid arthritis, and has symptoms including arthritis, joint swelling and inflammatory abnormality of the eye. Affiliated tissues include bone and eye.

Related Diseases for Enthesitis-Related Juvenile Idiopathic Arthritis

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.5
2rheumatoid arthritis10.4
3arthritis10.4
4neuronitis10.4
5mantle cell lymphoma10.2
6lymphoma10.2
7colorectal cancer10.2
8renal cell carcinoma10.2
9ovarian cancer10.2
10autonomic neuropathy10.1
11neuropathy10.1

Graphical network of diseases related to Enthesitis-Related Juvenile Idiopathic Arthritis:



Diseases related to enthesitis-related juvenile idiopathic arthritis

Symptoms for Enthesitis-Related Juvenile Idiopathic 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 Juvenile Idiopathic 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 Juvenile Idiopathic Arthritis

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Etanerceptapproved, investigationalPhase 3383185243-69-0
Synonyms:
185243-69-0
CD120b
D00742
Enbrel
Enbrel (TN)
Enbrel Sureclick
Etanercept
Etanercept (USAN/INN)
 
Etanercept (genetical recombination)
Etanercept (genetical recombination) (JAN)
TNF-R2
Tumor necrosis factor receptor 2
Tumor necrosis factor receptor superfamily member 1B precursor
Tumor necrosis factor receptor type II
etanercept
p75
p80 TNF-alpha receptor
2
AdalimumabapprovedPhase 3443331731-18-116219006
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
3
TofacitinibapprovedPhase 395477600-75-2
Synonyms:
Tasocitinib
 
Tofacitinib Citrate
Tofacitinibum
Xeljanz
4
Certolizumab pegolapprovedPhase 3117428863-50-7
Synonyms:
428863-50-7
CDP870
Certolizumab pegol
 
Certolizumab pegol (USAN/INN)
Certolizumab pegol (genetical recombination)
Certolizumab pegol (genetical recombination) (JAN)
Cimzia
D03441
5Immunologic FactorsPhase 318483
6Peripheral Nervous System AgentsPhase 318510
7Immunosuppressive AgentsPhase 310422
8Gastrointestinal AgentsPhase 36401
9Anti-Inflammatory AgentsPhase 38478
10Anti-Inflammatory Agents, Non-SteroidalPhase 33549
11AnalgesicsPhase 39358
12Analgesics, Non-NarcoticPhase 35184
13Antirheumatic AgentsPhase 38496
14Pharmaceutical SolutionsPhase 37004
15Protein Kinase InhibitorsPhase 33162

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
3Long-Term Safety Study Of Tofacinib In Patients With Juvenile Idiopathic ArthritisRecruitingNCT01500551Phase 3
4Extension Study Evaluating Etanercept in 3 Subtypes of Childhood ArthritisActive, not recruitingNCT01421069Phase 3
5Pediatric Arthritis Study of Certolizumab PegolActive, not recruitingNCT01550003Phase 3
6Juvenile Arthritis Quantitative ImagingRecruitingNCT02684695
7Observational Study of Pediatric Rheumatic Diseases: The CARRA RegistryRecruitingNCT02418442
8Natural History and Development of SpondyloarthritisRecruitingNCT01422694

Search NIH Clinical Center for Enthesitis-Related Juvenile Idiopathic Arthritis

Genetic Tests for Enthesitis-Related Juvenile Idiopathic Arthritis

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Anatomical Context for Enthesitis-Related Juvenile Idiopathic Arthritis

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MalaCards organs/tissues related to Enthesitis-Related Juvenile Idiopathic Arthritis:

33
Bone, Eye

Animal Models for Enthesitis-Related Juvenile Idiopathic Arthritis or affiliated genes

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Publications for Enthesitis-Related Juvenile Idiopathic Arthritis

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Variations for Enthesitis-Related Juvenile Idiopathic Arthritis

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Expression for genes affiliated with Enthesitis-Related Juvenile Idiopathic Arthritis

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

Pathways for genes affiliated with Enthesitis-Related Juvenile Idiopathic Arthritis

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GO Terms for genes affiliated with Enthesitis-Related Juvenile Idiopathic Arthritis

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Sources for Enthesitis-Related Juvenile Idiopathic 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