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:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Enthesitis-Related Juvenile Idiopathic Arthritis:

Name: Enthesitis-Related Juvenile Idiopathic Arthritis 46
Enthesitis-Related Arthritis 46 52 66
Era 46 52
 
Enthesitis Related Arthritis, Juvenile 46
Juvenile Enthesitis-Related Arthritis 46
Juvenile Spondylarthropathy 46

Characteristics:

Orphanet epidemiological data:

52
enthesitis-related arthritis:
Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA85438
ICD10 via Orphanet29 M08.8

Summaries for Enthesitis-Related Juvenile Idiopathic Arthritis

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NIH Rare Diseases:46 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 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:

idRelated DiseaseScoreTop Affiliating Genes
1spondylarthropathy10.1
2rheumatoid arthritis10.0
3arthritis10.0

Symptoms for Enthesitis-Related Juvenile Idiopathic Arthritis

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Symptoms:

 52 (show all 10)
  • dental malocclusion
  • joint swelling
  • elevated erythrocyte sedimentation rate
  • juvenile rheumatoid arthritis
  • elevated c-reactive protein level
  • anterior uveitis
  • sacroiliac arthritis
  • increased inflammatory response
  • enthesitis
  • cartilage destruction

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
adalimumabPhase 3466331731-18-116219006
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
EtanerceptPhase 3391185243-69-0
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
TofacitinibPhase 398477600-75-2
Synonyms:
 
Tasocitinib
Tofacitinibum
4
Certolizumab pegolPhase 3119428863-50-7
Synonyms:
428863-50-7
CDP870
Certolizumab pegol
 
Certolizumab pegol (USAN/INN)
Certolizumab pegol (genetical recombination)
Certolizumab pegol (genetical recombination) (JAN)
D03441
cimzia

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:

34
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet