MCID: ENT010
MIFTS: 19

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:
31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Enthesitis-Related Juvenile Idiopathic Arthritis:

Name: Enthesitis-Related Juvenile Idiopathic Arthritis 48
Enthesitis-Related Arthritis 48 54 68
Era 48 54
 
Enthesitis Related Arthritis, Juvenile 48
Juvenile Enthesitis-Related Arthritis 48
Juvenile Spondylarthropathy 48

Characteristics:

Orphanet epidemiological data:

54
enthesitis-related arthritis:
Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA85438
ICD10 via Orphanet31 M08.8

Summaries for Enthesitis-Related Juvenile Idiopathic Arthritis

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NIH Rare Diseases:48 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 spondylarthropathy and rheumatoid arthritis, and has symptoms including arthritis, joint swelling and inflammatory abnormality of the eye. Affiliated tissues include eye and bone.

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:

idRelated DiseaseScoreTop Affiliating Genes
1spondylarthropathy10.0
2rheumatoid arthritis9.9
3arthritis9.9

Symptoms & Phenotypes for Enthesitis-Related Juvenile Idiopathic Arthritis

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Human phenotypes related to Enthesitis-Related Juvenile Idiopathic Arthritis:

 64 54 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis64 hallmark (90%) HP:0001369
2 joint swelling64 54 hallmark (90%) Very frequent (99-80%) HP:0001386
3 inflammatory abnormality of the eye64 hallmark (90%) HP:0100533
4 abnormality of the teeth64 typical (50%) HP:0000164
5 enthesitis64 54 typical (50%) Frequent (79-30%) HP:0100686
6 cartilage destruction64 54 typical (50%) Frequent (79-30%) HP:0100773
7 abnormal tendon morphology64 occasional (7.5%) HP:0100261
8 dental malocclusion54 Frequent (79-30%)
9 elevated erythrocyte sedimentation rate54 Very frequent (99-80%)
10 juvenile rheumatoid arthritis54 Very frequent (99-80%)
11 elevated c-reactive protein level54 Very frequent (99-80%)
12 anterior uveitis54 Very frequent (99-80%)
13 sacroiliac arthritis54 Very frequent (99-80%)
14 increased inflammatory response54 Very frequent (99-80%)

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
AdalimumabapprovedPhase 3478331731-18-116219006
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
Etanerceptapproved, investigationalPhase 3397185243-69-0
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
3
Tofacitinibapproved, investigationalPhase 3104477600-75-2
Synonyms:
 
Tasocitinib
Tofacitinibum
4
Certolizumab pegolapprovedPhase 3122428863-50-7
Synonyms:
428863-50-7
CDP870
Certolizumab pegol
 
Certolizumab pegol (USAN/INN)
Certolizumab pegol (genetical recombination)
Certolizumab pegol (genetical recombination) (JAN)
D03441
cimzia
5Immunosuppressive AgentsPhase 312770
6Antirheumatic AgentsPhase 310627
7Peripheral Nervous System AgentsPhase 322776
8Gastrointestinal AgentsPhase 38109
9AnalgesicsPhase 311287
10Anti-Inflammatory AgentsPhase 310355
11Analgesics, Non-NarcoticPhase 36260
12Anti-Inflammatory Agents, Non-SteroidalPhase 34295
13Pharmaceutical SolutionsPhase 37793
14Protein Kinase InhibitorsPhase 33612
15Rheumatoid Factor6

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
6Secukinumab Safety and Efficacy in JPsA and ERANot yet recruitingNCT03031782Phase 3
7Juvenile Arthritis Quantitative ImagingRecruitingNCT02684695
8Natural History and Development of SpondyloarthritisRecruitingNCT01422694
9Observational Study of Pediatric Rheumatic Diseases: The CARRA RegistryRecruitingNCT02418442

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:

36
Eye, Bone

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet