RASJ
MCID: RHM021
MIFTS: 52

Rheumatoid Arthritis, Systemic Juvenile (RASJ)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune 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 58 30 56 41 74
Rheumatoid Arthritis, Systemic Juvenile, Susceptibility to 58 13 6
Juvenile-Onset Still Disease 76 74
Systemic-Onset Juvenile Idiopathic Arthritis 60
Systemic Onset Juvenile Chronic Arthritis 74
Systemic Juvenile Rheumatoid Arthritis 58
Rheumatoid Arthritis Systemic Juvenile 76
Systemic Polyarthritis 60
Arthritis, Juvenile 45
Systemic-Onset Jia 60
Stills Disease 56
Still Disease 60
Rasj 76

Characteristics:

Orphanet epidemiological data:

60
systemic-onset juvenile idiopathic arthritis
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

OMIM 58 604302
MeSH 45 D001171
ICD10 34 M08.2 M09 M09.8
ICD10 via Orphanet 35 M08.2
UMLS via Orphanet 75 C0087031 C1384600
Orphanet 60 ORPHA85414
MedGen 43 C1858558

Summaries for Rheumatoid Arthritis, Systemic Juvenile

UniProtKB/Swiss-Prot : 76 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 juvenile rheumatoid arthritis and rheumatoid factor-negative juvenile idiopathic arthritis. An important gene associated with Rheumatoid Arthritis, Systemic Juvenile is IL6 (Interleukin 6), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related phenotypes are fever and joint swelling

Description 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 138)
# Related Disease Score Top Affiliating Genes
1 juvenile rheumatoid arthritis 32.6 HLA-DRB1 IL1R1 IL6
2 rheumatoid factor-negative juvenile idiopathic arthritis 32.4 HLA-DRB1 IL2RB
3 adult-onset still's disease 30.2 IL1R1 IL6 MIF
4 arthritis 29.9 HLA-DRB1 IL6 LACC1 MIF
5 cryopyrin-associated periodic syndrome 29.4 IL1R1 IL6
6 rheumatoid arthritis 29.2 HLA-DRB1 IL1R1 IL6 LACC1 MIF
7 sarcoidosis 1 28.8 HLA-DRB1 IL2RB
8 systemic onset juvenile idiopathic arthritis 12.7
9 psoriatic juvenile idiopathic arthritis 11.7
10 enthesitis-related juvenile idiopathic arthritis 11.6
11 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis 11.5
12 pauciarticular chronic arthritis 11.2
13 polyarticular onset juvenile idiopathic arthritis 11.2
14 kawasaki disease 10.5
15 juvenile ankylosing spondylitis 10.3
16 rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies 10.3
17 rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies 10.3
18 amyloidosis 10.3
19 macrophage activation syndrome 10.2
20 psoriatic arthritis 10.2
21 photokeratitis 10.2 IL6 MIF
22 cysticercosis 10.2 IL6 MIF
23 anca-associated vasculitis 10.1 HLA-DRB1 IL6
24 central nervous system vasculitis 10.1 HLA-DRB1 IL6
25 cystic echinococcosis 10.1 HLA-DRB1 IL6
26 echinococcosis 10.1 HLA-DRB1 IL6
27 rheumatoid vasculitis 10.1 HLA-DRB1 MIF
28 dengue shock syndrome 10.1 HLA-DRB1 IL6
29 rheumatic fever 10.1 HLA-DRB1 IL6
30 idiopathic neutropenia 10.1 HLA-DRB1 IL6
31 diffuse cutaneous systemic sclerosis 10.1 HLA-DRB1 MIF
32 neuromyelitis optica 10.1 HLA-DRB1 IL6
33 ocular cicatricial pemphigoid 10.1 HLA-DRB1 MIF
34 hemorrhagic fever with renal syndrome 10.1 HLA-DRB1 IL6
35 mixed connective tissue disease 10.1 HLA-DRB1 IL6
36 post-transplant lymphoproliferative disease 10.1 IL1R1 IL6
37 radiculopathy 10.1 IL1R1 IL6
38 rheumatic heart disease 10.1 HLA-DRB1 IL6
39 joint disorders 10.0 IL1R1 IL6
40 dengue hemorrhagic fever 10.0 HLA-DRB1 IL6
41 renal cell carcinoma, nonpapillary 10.0
42 ige responsiveness, atopic 10.0
43 keratitis, hereditary 10.0
44 systemic lupus erythematosus 10.0
45 celiac disease 1 10.0
46 agammaglobulinemia, x-linked 10.0
47 leukemia, acute lymphoblastic 10.0
48 infantile liver failure syndrome 1 10.0
49 acute liver failure 10.0
50 autoimmune hepatitis 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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
2 joint swelling 60 33 hallmark (90%) Very frequent (99-80%) HP:0001386
3 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
4 autoimmunity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002960
5 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
6 elevated c-reactive protein level 60 33 hallmark (90%) Very frequent (99-80%) HP:0011227
7 elevated erythrocyte sedimentation rate 60 33 hallmark (90%) Very frequent (99-80%) HP:0003565
8 juvenile rheumatoid arthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005681
9 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
10 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
11 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
12 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
13 pericarditis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001701
14 pleural effusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0002202
15 anterior uveitis 60 33 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 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
3 Antibodies Phase 3
4 Rho(D) Immune Globulin Phase 3
5 Immunologic Factors Phase 3
6 Immunoglobulins Phase 3
7 Immunoglobulins, Intravenous Phase 3
8 gamma-Globulins Phase 3
9 Antibodies, Monoclonal Phase 3
10
Rilonacept Approved, Investigational Phase 2 501081-76-1 104924
11 Anti-Inflammatory Agents Phase 2
12
leucovorin Approved 58-05-9 143 6006
13
Methotrexate Approved 1959-05-2, 59-05-2 126941
14
Etanercept Approved, Investigational 185243-69-0
15
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
16 Nucleic Acid Synthesis Inhibitors
17 Antimetabolites, Antineoplastic
18 Antirheumatic Agents
19 Dermatologic Agents
20 Peripheral Nervous System Agents
21 Antimetabolites
22 Vitamin B Complex
23 Gastrointestinal Agents
24 Analgesics, Non-Narcotic
25 Folic Acid Antagonists
26 Analgesics
27 Immunosuppressive Agents
28 Anti-Inflammatory Agents, Non-Steroidal
29 Vitamin B9
30 Folate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Childhood Onset Psychiatric Disorders With Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
2 Study of Efficacy and Safety of Canakinumab in Japanese Patients With SJIA Completed NCT02396212 Phase 3
3 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Completed NCT02334748 Phase 3 canakinumab
4 ß-SPECIFIC 4 Patients: Study of Pediatric EffiCacy and Safety wIth FIrst-line Use of Canakinumab Completed NCT02296424 Phase 3 ACZ885 150 mg (Canakinumab)
5 Safety and Effectiveness of Rilonacept for Treating Systemic Juvenile Idiopathic Arthritis in Children and Young Adults Completed NCT00534495 Phase 2
6 Registry of Etanercept (Enbrel®) In Children With Juvenile Rheumatoid Arthritis Completed NCT00078793 Enbrel®

Search NIH Clinical Center for Rheumatoid Arthritis, Systemic Juvenile

Cochrane evidence based reviews: arthritis, 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 30 IL6 MIF

Anatomical Context for Rheumatoid Arthritis, Systemic Juvenile

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

42
Bone, Heart, Skin, Neutrophil, Myeloid, B Cells, Brain

Publications for Rheumatoid Arthritis, Systemic Juvenile

Articles related to Rheumatoid Arthritis, Systemic Juvenile:

(show top 50) (show all 146)
# Title Authors Year
1
Comparative study of Interleukin-18 (IL-18) serum levels in adult onset Still's disease (AOSD) and systemic onset juvenile idiopathic arthritis (sJIA) and its use as a biomarker for diagnosis and evaluation of disease activity. ( 30886992 )
2019
2
Achromobacter xylosoxidans Sepsis Unveiling X-linked Agammaglobulinemia Masquerading as Systemic-onset Juvenile Idiopathic Arthritis. ( 31102385 )
2019
3
Treatment of patients with systemic-onset juvenile idiopathic arthritis with tacrolimus. ( 30783487 )
2019
4
The role of extracellular histones in systemic-onset juvenile idiopathic arthritis. ( 30642364 )
2019
5
Tocilizumab in the treatment of systemic-onset juvenile idiopathic arthritis - single-centre experience. ( 30505008 )
2018
6
Methotrexate-Induced Vasculitis in a Child with Systemic Onset Juvenile Idiopathic Arthritis. ( 30431484 )
2018
7
Impact of biologics on disease course in systemic onset juvenile idiopathic arthritis. ( 30238379 )
2018
8
Remission of Refractory Systemic-Onset Juvenile Idiopathic Arthritis After Treatment With Siltuximab. ( 29485546 )
2018
9
Reasons for inactive disease and flare in systemic onset juvenile idiopathic arthritis patients during tocilizumab treatment. ( 29303703 )
2018
10
Reversal of Sepsis-Like Features of Neutrophils by Interleukin-1 Blockade in Patients With Systemic-Onset Juvenile Idiopathic Arthritis. ( 29426067 )
2018
11
Clinical improvement of renal amyloidosis in a patient with systemic-onset juvenile idiopathic arthritis who received tocilizumab treatment: a case report and literature review. ( 28499374 )
2017
12
Systemic-onset juvenile idiopathic arthritis and incomplete Kawasaki disease may belong to a single clinical syndrome within a spectrum of severity. ( 28980895 )
2017
13
Systemic-onset juvenile idiopathic arthritis or incomplete Kawasaki disease: a diagnostic challenge. ( 27782865 )
2017
14
Extremely elevated IL-18 levels may help distinguish systemic-onset juvenile idiopathic arthritis from other febrile diseases. ( 28225869 )
2017
15
Course, Outcome and Complications in Children with Systemic Onset Juvenile Idiopathic Arthritis. ( 28229369 )
2017
16
Canakinumab for first line steroid-free treatment in a child with systemic-onset juvenile idiopathic arthritis. ( 28266235 )
2017
17
The novel use of combined IL-1 and IL-6 inhibition in a patient with severe, aggressive, erosive, systemic-onset juvenile idiopathic arthritis. ( 28293458 )
2017
18
A Systemic-Onset Juvenile Idiopathic Arthritis Patient with Reduced Anakinra Treatment Admitted with an Attack. ( 28416939 )
2017
19
Experience with etanercept, tocilizumab and interleukin-1 inhibitors in systemic onset juvenile idiopathic arthritis patients from the BIKER registry. ( 29166924 )
2017
20
Should 2016 Criteria for Macrophage Activation Syndrome be applied in children with Kawasaki disease, as well as with systemic-onset juvenile idiopathic arthritis? ( 26965982 )
2016
21
Effect of etanercept on refractory systemic-onset juvenile idiopathic arthritis. ( 25754755 )
2016
22
IL-6 blockers in systemic onset juvenile idiopathic arthritis. ( 26642378 )
2016
23
Potential Effects of Interleukins on the Pathogenesis of Systemic Onset Juvenile Idiopathic Arthritis. ( 26810447 )
2016
24
Assessment of vascular function in systemic onset juvenile idiopathic arthritis. ( 27075461 )
2016
25
Systemic-onset juvenile idiopathic arthritis. ( 27392503 )
2016
26
Operative stabilization of the remaining mobile segment in ankylosed cervical spine in systemic onset - juvenile idiopathic arthritis: A case report. ( 27458558 )
2016
27
Systemic onset juvenile idiopathic arthritis and exposure to fine particulate air pollution. ( 27607024 )
2016
28
Systemic onset juvenile idiopathic arthritis with macrophage activation syndrome and coronary artery dilatation misdiagnosed as Kawasaki disease. ( 27411422 )
2015
29
Diagnosis of systemic-onset juvenile idiopathic arthritis after treatment for presumed Kawasaki disease. ( 25771391 )
2015
30
Pathogenesis of systemic inflammatory diseases in childhood: "Lessons from clinical trials of anti-cytokine monoclonal antibodies for Kawasaki disease, systemic onset juvenile idiopathic arthritis, and cryopyrin-associated periodic fever syndrome". ( 24842480 )
2015
31
Successful treatment of macrophage activation syndrome due to systemic onset juvenile idiopathic arthritis with antithymocyte globulin. ( 26210998 )
2015
32
Myositis as a presenting feature of systemic onset juvenile idiopathic arthritis. ( 25677488 )
2015
33
Reversible posterior leukoencephalopathy syndrome secondary to systemic-onset juvenile idiopathic arthritis: A case report and review of the literature. ( 25469247 )
2015
34
Successful treatment with tocilizumab every 4 weeks of a low disease activity group who achieve a drug-free remission in patients with systemic-onset juvenile idiopathic arthritis. ( 25685108 )
2015
35
A safety evaluation of canakinumab for the treatment of systemic onset juvenile idiopathic arthritis. ( 26568054 )
2015
36
Bullous Erythema Nodosum Leprosum masquerading as systemic onset juvenile idiopathic arthritis: A case report. ( 26964436 )
2015
37
Soluble CD25 in serum: a potential marker for subclinical macrophage activation syndrome in patients with active systemic onset juvenile idiopathic arthritis. ( 24417800 )
2014
38
Nodular regenerative hyperplasia of the liver as a complication of long-standing systemic-onset juvenile idiopathic arthritis. ( 24315465 )
2014
39
Atopy in children with systemic onset juvenile idiopathic arthritis (SoJIA) is associated with a worse outcome. ( 24611751 )
2014
40
A130: Is the CCR5-delta32 Mutation Protective Against Systemic-Onset Juvenile Idiopathic Arthritis? ( 24677884 )
2014
41
Discrepancy between clinical and radiological responses to tocilizumab treatment in patients with systemic-onset juvenile idiopathic arthritis. ( 24786929 )
2014
42
Coronary artery abnormalities in children with systemic-onset juvenile idiopathic arthritis. ( 24793086 )
2014
43
MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis. ( 24862656 )
2014
44
AA amyloidosis associated with systemic-onset juvenile idiopathic arthritis. ( 23664546 )
2013
45
Congestive heart failure: an uncommon presentation of systemic onset juvenile idiopathic arthritis (SOJIA). ( 22161583 )
2013
46
Incomplete Kawasaki disease followed by systemic onset juvenile idiopathic arthritis- the diagnostic dilemma. ( 23054859 )
2013
47
Systemic onset juvenile idiopathic arthritis with macrophage activation syndrome misdiagnosed as Kawasaki disease: case report and literature review. ( 21132551 )
2013
48
Systemic-onset juvenile idiopathic arthritis and HLA-B27 juvenile-onset undifferentiated spondyloarthritis in the same patient. ( 23295075 )
2013
49
Thalidomide for systemic onset juvenile idiopathic arthritis. ( 23474929 )
2013
50
Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes. ( 23915458 )
2013

Variations for Rheumatoid Arthritis, Systemic Juvenile

ClinVar genetic disease variations for Rheumatoid Arthritis, Systemic Juvenile:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MIF MIF, -173G-C single nucleotide variant risk factor
2 IL6 IL6, -174G-C single nucleotide variant risk factor

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:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 HLA-DRB1 IL1R1 IL2RB IL6 MIF SERPINA3
2
Show member pathways
12.92 HLA-DRB1 IL1R1 IL2RB IL6
3
Show member pathways
11.88 IL1R1 IL6 MIF
4
Show member pathways
11.79 HLA-DRB1 IL1R1 IL2RB IL6
5
Show member pathways
11.67 IL1R1 IL2RB IL6
6 11.58 IL1R1 IL6 MIF
7 11.53 IL1R1 IL6
8 11.5 HLA-DRB1 IL6
9
Show member pathways
11.49 HLA-DRB1 IL1R1 IL2RB
10 11.43 IL1R1 IL2RB
11 11.32 HLA-DRB1 IL1R1 IL6
12
Show member pathways
11.29 IL6 MIF
13 11.26 HLA-DRB1 IL1R1 IL2RB IL6
14 11.15 IL1R1 IL6
15 10.83 HLA-DRB1 IL6

GO Terms for Rheumatoid Arthritis, Systemic Juvenile

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.13 HLA-DRB1 IL1R1 IL2RB
2 cell surface GO:0009986 8.92 HLA-DRB1 IL1R1 IL2RB MIF

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.54 HLA-DRB1 IL1R1 IL6
2 cytokine-mediated signaling pathway GO:0019221 9.33 IL1R1 IL2RB IL6
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.32 IL6 MIF
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.26 IL6 MIF
5 acute-phase response GO:0006953 8.96 IL6 SERPINA3
6 inflammatory response GO:0006954 8.92 IL1R1 IL6 MIF SERPINA3

Sources for Rheumatoid Arthritis, Systemic Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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