RASJ
MCID: RHM021
MIFTS: 44

Rheumatoid Arthritis, Systemic Juvenile (RASJ)

Categories: Bone diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Rheumatoid Arthritis, Systemic Juvenile

MalaCards integrated aliases for Rheumatoid Arthritis, Systemic Juvenile:

Name: Rheumatoid Arthritis, Systemic Juvenile 56 29 54 39 71
Rheumatoid Arthritis, Systemic Juvenile, Susceptibility to 56 13 6
Juvenile-Onset Still Disease 73 71
Systemic-Onset Juvenile Idiopathic Arthritis 58
Systemic Onset Juvenile Chronic Arthritis 71
Systemic Juvenile Rheumatoid Arthritis 56
Rheumatoid Arthritis Systemic Juvenile 73
Systemic Polyarthritis 58
Systemic-Onset Jia 58
Still Disease 58
Rasj 73

Characteristics:

Orphanet epidemiological data:

58
systemic-onset juvenile idiopathic arthritis
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare systemic and rhumatological diseases


External Ids:

OMIM 56 604302
MeSH 43 D001171
ICD10 via Orphanet 33 M08.2
UMLS via Orphanet 72 C0087031 C1384600
Orphanet 58 ORPHA85414
MedGen 41 C1858558
UMLS 71 C0087031 C1384600 C1858558

Summaries for Rheumatoid Arthritis, Systemic Juvenile

UniProtKB/Swiss-Prot : 73 Rheumatoid arthritis systemic juvenile: An inflammatory articular disorder with systemic onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis.

MalaCards based summary : Rheumatoid Arthritis, Systemic Juvenile, also known as rheumatoid arthritis, systemic juvenile, susceptibility to, is related to adult-onset still's disease and juvenile rheumatoid arthritis. An important gene associated with Rheumatoid Arthritis, Systemic Juvenile is IL6 (Interleukin 6), and among its related pathways/superpathways are Tuberculosis and Adipogenesis. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and skin, and related phenotypes are fever and skin rash

More information from OMIM: 604302

Related Diseases for Rheumatoid Arthritis, Systemic Juvenile

Diseases in the Rheumatoid Arthritis family:

Rheumatoid Arthritis, Systemic Juvenile Juvenile Rheumatoid Arthritis

Diseases related to Rheumatoid Arthritis, Systemic Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 252)
# Related Disease Score Top Affiliating Genes
1 adult-onset still's disease 33.0 MIF IL6 HLA-DRB1
2 juvenile rheumatoid arthritis 31.6 MIF LACC1 IL6 HLA-DRB1
3 mixed connective tissue disease 30.1 IL6 HLA-DRB1
4 autoimmune hepatitis 29.9 IL6 HLA-DRB1
5 keratitis, hereditary 29.9 MIF IL6
6 rheumatoid arthritis 29.8 MIF IL6 HLA-DRB1
7 pharyngitis 29.7 IL6 HLA-DRB1
8 myositis 29.7 IL6 HLA-DRB1
9 bacterial infectious disease 29.6 MIF IL6
10 autoimmune disease 29.4 MIF IL6 HLA-DRB1
11 graft-versus-host disease 29.3 IL6 HLA-DRB1
12 bacterial sepsis 29.2 MIF IL6
13 sarcoidosis 1 29.2 MIF HLA-DRB1
14 chikungunya 29.2 MIF IL6
15 viral hepatitis 29.1 IL6 HLA-DRB1
16 juvenile arthritis 29.1 MIF LACC1 IL6
17 leishmaniasis 29.1 IL6 HLA-DRB1
18 arthritis 28.8 MIF LACC1 IL6 HLA-DRB1
19 inflammatory bowel disease 28.5 MIF LACC1 IL6 HLA-DRB1
20 leprosy 3 28.5 LACC1 IL6 HLA-DRB1
21 colitis 27.8 MIF LACC1 IL6 HLA-DRB1
22 systemic onset juvenile idiopathic arthritis 11.6
23 leukemia, acute lymphoblastic 10.3
24 macrophage activation syndrome 10.3
25 brucellosis 10.3
26 disseminated intravascular coagulation 10.2
27 exanthem 10.1
28 thrombocytosis 10.1
29 idiopathic neutropenia 10.1 IL6 HLA-DRB1
30 central nervous system vasculitis 10.1 IL6 HLA-DRB1
31 intermediate uveitis 10.1 IL6 HLA-DRB1
32 microscopic colitis 10.1 IL6 HLA-DRB1
33 cystic echinococcosis 10.1 IL6 HLA-DRB1
34 echinococcosis 10.1 IL6 HLA-DRB1
35 autoimmune gastritis 10.0 IL6 HLA-DRB1
36 panuveitis 10.0 IL6 HLA-DRB1
37 polyarteritis nodosa 10.0 IL6 HLA-DRB1
38 dengue shock syndrome 10.0 IL6 HLA-DRB1
39 spondyloarthropathy 1 10.0
40 renal cell carcinoma, nonpapillary 10.0
41 ige responsiveness, atopic 10.0
42 systemic lupus erythematosus 10.0
43 muckle-wells syndrome 10.0
44 celiac disease 1 10.0
45 diastrophic dysplasia 10.0
46 agammaglobulinemia, x-linked 10.0
47 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 10.0
48 cyanosis, transient neonatal 10.0
49 autosomal recessive disease 10.0
50 fiedler's myocarditis 10.0

Graphical network of the top 20 diseases related to Rheumatoid Arthritis, Systemic Juvenile:



Diseases related to Rheumatoid Arthritis, Systemic Juvenile

Symptoms & Phenotypes for Rheumatoid Arthritis, Systemic Juvenile

Human phenotypes related to Rheumatoid Arthritis, Systemic Juvenile:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
2 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
3 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
4 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
5 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
6 elevated c-reactive protein level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011227
7 elevated erythrocyte sedimentation rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003565
8 juvenile rheumatoid arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005681
9 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
10 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
11 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
12 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
13 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
14 pleural effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002202
15 anterior uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012122

Clinical features from OMIM:

604302

Drugs & Therapeutics for Rheumatoid Arthritis, Systemic Juvenile

Drugs for Rheumatoid Arthritis, Systemic Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
3
BCG vaccine Investigational Phase 3
4 Pharmaceutical Solutions Phase 3
5 Immunoglobulins Phase 3
6 Antibodies Phase 3
7 Immunologic Factors Phase 3
8 Rho(D) Immune Globulin Phase 3
9 Immunoglobulins, Intravenous Phase 3
10 gamma-Globulins Phase 3
11 Fluorodeoxyglucose F18 Phase 3
12 Liver Extracts Phase 3
13
Rilonacept Approved, Investigational Phase 2 501081-76-1 104924
14 Anti-Inflammatory Agents Phase 2
15 Histone Deacetylase Inhibitors Phase 2
16 Givinostat hydrochloride Phase 2
17 Antibodies, Monoclonal Phase 1, Phase 2
18
Prednisolone phosphate Approved, Vet_approved Phase 1 302-25-0
19
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
20
Methylprednisolone hemisuccinate Approved Phase 1 2921-57-5
21 Prednisolone acetate Approved, Vet_approved Phase 1 52-21-1
22
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
23
Prednisolone hemisuccinate Experimental Phase 1 2920-86-7
24 Interleukin 1 Receptor Antagonist Protein Phase 1
25 Antirheumatic Agents Phase 1
26 Methylprednisolone Acetate Phase 1
27
Methotrexate Approved 59-05-2, 1959-05-2 126941
28
Etanercept Approved, Investigational 185243-69-0
29 Gastrointestinal Agents
30 Analgesics, Non-Narcotic
31 Analgesics
32 Immunosuppressive Agents
33 Anti-Inflammatory Agents, Non-Steroidal

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 An Open-label, Single-arm, Active-treatment, Efficacy and Safety Study of Canakinumab (ACZ885) Administered for at Least 48 Weeks in Japanese Patients With Systemic Juvenile Idiopathic Arthritis (SJIA) Completed NCT02396212 Phase 3
2 β-SPECIFIC 4 Patients: Study of Pediatric EffiCacy and Safety wIth FIrst-line Use of Canakinumab An Open-label Canakinumab (ACZ885) Dose Reduction or Dose Interval Prolongation Efficacy and Safety Study in Patients With Systemic Juvenile Idiopathic Arthritis (SJIA) Completed NCT02296424 Phase 3 ACZ885 150 mg (Canakinumab)
3 A French Open-label Extension Study of Canakinumab in Patients Who Participated in International Phase III Studies CACZ885G2301E1 or CACZ885G2306 in Systemic Juvenile Idiopathic Arthritis and CACZ885N2301 in Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF) Completed NCT02334748 Phase 3 canakinumab
4 ANAkinra in Severe Juvenile Idiopathic Arthritis of Systemic Onset (ANAJIS) Completed NCT00339157 Phase 2, Phase 3 Anakinra
5 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
6 Utility of FDG-PET Scan on the Selection of Patients for Resection of Hepatic Colorectal Metastases Completed NCT00119899 Phase 3
7 Open-Label, Multicenter, Ph 3 Study to Evaluate the Efficacy and Tolerability of Intravesical Vicinium™ in Subjects With Non Muscle-Invasive Carcinoma in Situ and/or High-Grade Papillary Disease of the Bladder Treated With BCG Active, not recruiting NCT02449239 Phase 3
8 Efficacy and Safety of Tocilizumab (a Monoclonal Antibody to Receptor of IL-6) in the Treatment of Adult's Still Disease Unknown status NCT01002781 Phase 2 Tocilizumab
9 Randomized Placebo Phase Study of Rilonacept in the Treatment of Systemic Juvenile Idiopathic Arthritis (RAPPORT) Completed NCT00534495 Phase 2
10 Phase II, Open Label, International, Multicentre Clinical Trial to Investigate Safety and Efficacy of Oral ITF2357 in Patients With Active Systemic Onset Juvenile Idiopathic Arthritis (SOJIA) Completed NCT00570661 Phase 2 ITF2357
11 Tocilizumab in the Treatment of Refractory Polymyositis and Dermatomyositis Completed NCT02043548 Phase 2 tocilizumab;placebo
12 Ilaris (Canakinumab) in the Schnitzler Syndrome. A Case Series. Completed NCT01245127 Phase 2 Ilaris
13 A Single Escalating Dose Pilot Trial of Canakinumab (ILARIS®) Assessing Safety and Biomarker Changes in Boys With Duchenne Muscular Dystrophy Recruiting NCT03936894 Phase 1, Phase 2 Canakinumab Injection [Ilaris]
14 Randomized Placebo Controlled Trial of Subcutaneous rhIL-1A (Anakinra) in the Management of Hospitalized Pediatric and Adult Patients With Macrophage Activation Syndrome Recruiting NCT02780583 Phase 1 kineret;placebo
15 A Phase I Study of PR1-Specific Cytotoxic T-Lymphocyte Infusion for Patients With Recurrent CML After Allogeneic Hematopoietic Transplantation Withdrawn NCT00866346 Phase 1
16 Comparison of Predictive Ability of New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
17 Phase IV Registry of Etanercept (Enbrel®) In Children With Juvenile Rheumatoid Arthritis Completed NCT00078793 Enbrel®
18 The Immune Signature of Palmoplantar Pustulosis Completed NCT01780857
19 Admission of Adult-onset Still Disease Patients in the ICU: a French Retrospective Multicentric Study Completed NCT03276650
20 A Non-interventional, Post-authorization Safety Study (PASS) to Evaluate Long-term Safety of Anakinra (Kineret®) in Patients With Systemic Juvenile Idiopathic Arthritis Completed NCT03932344 Anakinra
21 Arthritis in Assiut University Children Hospital Not yet recruiting NCT04326582
22 Multi-center Registration Study of Adult Onset Still's Disease in Chinese Population Not yet recruiting NCT03651193
23 Single Patient Use of Tocilizumab for Treatment of Steroid Dependent, Active Systemic Onset Juvenile Idiopathic Arthritis Terminated NCT00868751

Search NIH Clinical Center for Rheumatoid Arthritis, Systemic Juvenile

Genetic Tests for Rheumatoid Arthritis, Systemic Juvenile

Genetic tests related to Rheumatoid Arthritis, Systemic Juvenile:

# Genetic test Affiliating Genes
1 Rheumatoid Arthritis, Systemic Juvenile 29 IL6 MIF

Anatomical Context for Rheumatoid Arthritis, Systemic Juvenile

MalaCards organs/tissues related to Rheumatoid Arthritis, Systemic Juvenile:

40
Bone, Liver, Skin, Brain

Publications for Rheumatoid Arthritis, Systemic Juvenile

Articles related to Rheumatoid Arthritis, Systemic Juvenile:

(show all 32)
# Title Authors PMID Year
1
Functional and prognostic relevance of the -173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis. 6 56
12746913 2003
2
A novel 5'-flanking region polymorphism of macrophage migration inhibitory factor is associated with systemic-onset juvenile idiopathic arthritis. 6 56
11508429 2001
3
The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. 6 56
9769329 1998
4
Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals. 6
17623760 2007
5
Juvenile idiopathic arthritis-associated uveitis: incidence of ocular complications and visual acuity loss. 56
17362866 2007
6
Interleukin-6 involvement in brain arteriovenous malformations. 6
16278864 2006
7
Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children. 6
16150725 2005
8
Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. 6
15331795 2004
9
Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes. 6
15472205 2004
10
Body mass index and C-174G interleukin-6 promoter polymorphism interact in predicting type 2 diabetes. 6
15070960 2004
11
Association of a functional 17beta-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females. 6
12719374 2003
12
Two promoter polymorphisms regulating interleukin-6 gene expression are associated with circulating levels of C-reactive protein and markers of bone resorption in postmenopausal women. 6
12519862 2003
13
The interleukin 6-174G/C polymorphism is associated with indices of obesity in men. 6
12560873 2003
14
Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis. 56
12355488 2002
15
The -597 G-->A and -174 G-->C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenism. 6
11889177 2002
16
An IL6 promoter polymorphism is associated with a lifetime risk of development of Kaposi sarcoma in men infected with human immunodeficiency virus. 6
11001912 2000
17
Interleukin-6 gene polymorphism and lipid abnormalities in healthy subjects. 6
10720087 2000
18
Juvenile rheumatoid arthritis as a complex genetic trait. 56
10555018 1999
19
Pediatric rheumatology in the United Kingdom: data from the British Pediatric Rheumatology Group National Diagnostic Register. 56
8923378 1996
20
Inflammatory cytokine responses in juvenile chronic arthritis. 56
7788176 1995
21
Juvenile rheumatoid arthritis: outcome and treatment for the 1990s. 56
1767079 1991
22
IL-6: from its discovery to clinical applications. 61 54
20410258 2010
23
Interleukin 6: from bench to bedside. 54 61
17075601 2006
24
Silencing the cytokine storm: the use of intravenous anakinra in haemophagocytic lymphohistiocytosis or macrophage activation syndrome. 61
32373790 2020
25
Tocilizumab (Actemra). 61
28841363 2017
26
A new alternative therapy in dermatology: tocilizumab. 61
26023856 2016
27
The biology and medical implications of interleukin-6. 61
24764575 2014
28
A new era for the treatment of inflammatory autoimmune diseases by interleukin-6 blockade strategy. 61
24594001 2014
29
Impact of interleukin-6 in hematological malignancies. 61
24273487 2013
30
Is systemic juvenile rheumatoid arthritis an interleukin 6 mediated disease? 54
9489807 1998
31
Interleukin 6 causes growth impairment in transgenic mice through a decrease in insulin-like growth factor-I. A model for stunted growth in children with chronic inflammation. 54
9045866 1997
32
Relationship between interleukin-6 levels and platelet counts in systemic juvenile rheumatoid arthritis: comment on the article by De Benedetti et al. 54
1622424 1992

Variations for Rheumatoid Arthritis, Systemic Juvenile

ClinVar genetic disease variations for Rheumatoid Arthritis, Systemic Juvenile:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MIF MIF, -173G-CSNV risk factor 14359
2 IL6 IL6, -174G-CSNV risk factor 14718

Expression for Rheumatoid Arthritis, Systemic Juvenile

Search GEO for disease gene expression data for Rheumatoid Arthritis, Systemic Juvenile.

Pathways for Rheumatoid Arthritis, Systemic Juvenile

Pathways related to Rheumatoid Arthritis, Systemic Juvenile according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.66 IL6 HLA-DRB1
2 11.49 MIF IL6
3 11.4 MIF IL6
4 11.25 IL6 HLA-DRB1
5 11.12 IL6 HLA-DRB1
6
Show member pathways
10.76 MIF IL6
7 10.09 IL6 HLA-DRB1

GO Terms for Rheumatoid Arthritis, Systemic Juvenile

Biological processes related to Rheumatoid Arthritis, Systemic Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.26 MIF HLA-DRB1
2 positive regulation of MAPK cascade GO:0043410 9.16 IL6 HLA-DRB1
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 8.96 MIF IL6
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 8.62 MIF IL6

Sources for Rheumatoid Arthritis, Systemic Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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