RASJ
MCID: RHM021
MIFTS: 54

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 57 29 55 40 73
Rheumatoid Arthritis, Systemic Juvenile, Susceptibility to 57 13 6
Juvenile-Onset Still Disease 75 73
Systemic-Onset Juvenile Idiopathic Arthritis 59
Systemic Onset Juvenile Chronic Arthritis 73
Systemic Juvenile Rheumatoid Arthritis 57
Rheumatoid Arthritis Systemic Juvenile 75
Systemic Polyarthritis 59
Arthritis, Juvenile 44
Systemic-Onset Jia 59
Stills Disease 55
Still Disease 59
Rasj 75

Characteristics:

Orphanet epidemiological data:

59
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 57 604302
Orphanet 59 ORPHA85414
UMLS via Orphanet 74 C0087031 C1384600
ICD10 via Orphanet 34 M08.2
MedGen 42 C1858558
MeSH 44 D001171
ICD10 33 M09 M08.2 M09.8

Summaries for Rheumatoid Arthritis, Systemic Juvenile

UniProtKB/Swiss-Prot : 75 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 Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are splenomegaly and hepatomegaly

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 123)
# Related Disease Score Top Affiliating Genes
1 juvenile rheumatoid arthritis 32.7 HLA-DRB1 IL1R1 IL6
2 rheumatoid factor-negative juvenile idiopathic arthritis 32.3 HLA-DRB1 IL2RB
3 adult-onset still's disease 30.1 IL1R1 IL6 MIF
4 arthritis 30.0 HLA-DRB1 IL6 LACC1 MIF
5 rheumatoid arthritis 29.6 HLA-DRB1 IL1R1 IL6 LACC1 MIF
6 cryopyrin-associated periodic syndrome 29.3 IL1R1 IL6
7 sarcoidosis 1 29.1 HLA-DRB1 IL2RB MIF
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 11.1
13 polyarticular onset juvenile idiopathic arthritis 11.1
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 cardiac tamponade 10.2
21 photokeratitis 10.1 IL6 MIF
22 cysticercosis 10.1 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 psoriatic arthritis 10.1
28 hemorrhagic fever 10.1 HLA-DRB1 IL6
29 rheumatoid vasculitis 10.1 HLA-DRB1 MIF
30 dengue shock syndrome 10.1 HLA-DRB1 IL6
31 rheumatic fever 10.1 HLA-DRB1 IL6
32 idiopathic neutropenia 10.1 HLA-DRB1 IL6
33 diffuse cutaneous systemic sclerosis 10.1 HLA-DRB1 MIF
34 neuromyelitis optica 10.1 HLA-DRB1 IL6
35 hemorrhagic fever with renal syndrome 10.1 HLA-DRB1 IL6
36 ocular cicatricial pemphigoid 10.1 HLA-DRB1 MIF
37 mixed connective tissue disease 10.0 HLA-DRB1 IL6
38 leprosy 3 10.0 HLA-DRB1 LACC1
39 rheumatic heart disease 10.0 HLA-DRB1 IL6
40 post-transplant lymphoproliferative disease 10.0 IL1R1 IL6
41 radiculopathy 10.0 IL1R1 IL6
42 dengue hemorrhagic fever 10.0 HLA-DRB1 IL6
43 joint disorders 10.0 IL1R1 IL6
44 autoimmune disease of central nervous system 10.0 HLA-DRB1 IL6
45 renal cell carcinoma, nonpapillary 10.0
46 systemic lupus erythematosus 10.0
47 myositis 10.0
48 celiac disease 1 10.0
49 leukemia, acute lymphoblastic 10.0
50 infantile liver failure syndrome 1 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

Clinical features from OMIM:

604302

Human phenotypes related to Rheumatoid Arthritis, Systemic Juvenile:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
2 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
3 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
4 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
5 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
6 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
7 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
8 pericarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001701
9 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
10 elevated c-reactive protein level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011227
11 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
12 pleural effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002202
13 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
14 anterior uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012122
15 juvenile rheumatoid arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005681

Drugs & Therapeutics for Rheumatoid Arthritis, Systemic Juvenile

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
2 tannic acid Approved Phase 3
3 gamma-Globulins Phase 3
4 Immunoglobulins, Intravenous Phase 3
5 Immunoglobulins Phase 3
6 Antibodies Phase 3
7 Rho(D) Immune Globulin Phase 3
8 Immunologic Factors Phase 3
9 Antibodies, Monoclonal Phase 3
10
Methotrexate Approved 59-05-2, 1959-05-2 126941
11
Etanercept Approved, Investigational 185243-69-0
12
leucovorin Approved 58-05-9 6006 143
13
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
14 Peripheral Nervous System Agents
15 Vitamin B9
16 Folate
17 Anti-Inflammatory Agents
18 Antimetabolites
19 Analgesics, Non-Narcotic
20 Anti-Inflammatory Agents, Non-Steroidal
21 Antirheumatic Agents
22 Folic Acid Antagonists
23 Gastrointestinal Agents
24 Vitamin B Complex
25 Analgesics
26 Dermatologic Agents
27 Antimetabolites, Antineoplastic
28 Nucleic Acid Synthesis Inhibitors
29 Immunosuppressive Agents

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 29 IL6 MIF

Anatomical Context for Rheumatoid Arthritis, Systemic Juvenile

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

41
Skin, Bone, Liver, Heart, B Cells, Myeloid, Lung

Publications for Rheumatoid Arthritis, Systemic Juvenile

Articles related to Rheumatoid Arthritis, Systemic Juvenile:

(show top 50) (show all 129)
# Title Authors Year
1
Remission of Refractory Systemic-Onset Juvenile Idiopathic Arthritis After Treatment With Siltuximab. ( 29485546 )
2018
2
Neutrophils in systemic onset Juvenile Idiopathic Arthritis display sepsis-like features which can be reverted by IL-1 blockade. ( 29426067 )
2018
3
Tocilizumab in the treatment of systemic-onset juvenile idiopathic arthritis - single-centre experience. ( 30505008 )
2018
4
Methotrexate-Induced Vasculitis in a Child with Systemic Onset Juvenile Idiopathic Arthritis. ( 30431484 )
2018
5
Impact of biologics on disease course in systemic onset juvenile idiopathic arthritis. ( 30238379 )
2018
6
A Systemic-Onset Juvenile Idiopathic Arthritis Patient with Reduced Anakinra Treatment Admitted with an Attack. ( 28416939 )
2017
7
Extremely elevated IL-18 levels may help distinguish systemic-onset juvenile idiopathic arthritis from other febrile diseases. ( 28225869 )
2017
8
Experience with etanercept, tocilizumab and interleukin-1 inhibitors in systemic onset juvenile idiopathic arthritis patients from the BIKER registry. ( 29166924 )
2017
9
Reasons for inactive disease and flare in systemic onset juvenile idiopathic arthritis patients during tocilizumab treatment. ( 29303703 )
2017
10
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
11
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
12
Canakinumab for first line steroid-free treatment in a child with systemic-onset juvenile idiopathic arthritis. ( 28266235 )
2017
13
Systemic-onset juvenile idiopathic arthritis and incomplete Kawasaki disease may belong to a single clinical syndrome within a spectrum of severity. ( 28980895 )
2017
14
Course, Outcome and Complications in Children with Systemic Onset Juvenile Idiopathic Arthritis. ( 28229369 )
2017
15
Systemic-onset juvenile idiopathic arthritis. ( 27392503 )
2016
16
Systemic-onset juvenile idiopathic arthritis or incomplete Kawasaki disease: a diagnostic challenge. ( 27782865 )
2016
17
Systemic onset juvenile idiopathic arthritis and exposure to fine particulate air pollution. ( 27607024 )
2016
18
Operative stabilization of the remaining mobile segment in ankylosed cervical spine in systemic onset - juvenile idiopathic arthritis: A case report. ( 27458558 )
2016
19
Assessment of vascular function in systemic onset juvenile idiopathic arthritis. ( 27075461 )
2016
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
IL-6 blockers in systemic onset juvenile idiopathic arthritis. ( 26642378 )
2016
22
Myositis as a presenting feature of systemic onset juvenile idiopathic arthritis. ( 25677488 )
2015
23
Successful treatment with tocilizumab every 4A weeks of a low disease activity group who achieve a drug-free remission in patients with systemic-onset juvenile idiopathic arthritis. ( 25685108 )
2015
24
A safety evaluation of canakinumab for the treatment of systemic onset juvenile idiopathic arthritis. ( 26568054 )
2015
25
Bullous Erythema Nodosum Leprosum masquerading as systemic onset juvenile idiopathic arthritis: A case report. ( 26964436 )
2015
26
Diagnosis of Systemic-Onset Juvenile Idiopathic Arthritis after Treatment for Presumed Kawasaki Disease. ( 25771391 )
2015
27
Potential Effects of Interleukins on the Pathogenesis of Systemic Onset Juvenile Idiopathic Arthritis. ( 26810447 )
2015
28
Reversible posterior leukoencephalopathy syndrome secondary to systemic-onset juvenile idiopathic arthritis: A case report and review of the literature. ( 25469247 )
2015
29
Successful treatment of macrophage activation syndrome due to systemic onset juvenile idiopathic arthritis with antithymocyte globulin. ( 26210998 )
2015
30
Effect of etanercept on refractory systemic-onset juvenile idiopathic arthritis. ( 25754755 )
2015
31
Systemic onset juvenile idiopathic arthritis with macrophage activation syndrome and coronary artery dilatation misdiagnosed as Kawasaki disease. ( 27411422 )
2015
32
Coronary artery abnormalities in children with systemic-onset juvenile idiopathic arthritis. ( 24793086 )
2014
33
Discrepancy between clinical and radiological responses to tocilizumab treatment in patients with systemic-onset juvenile idiopathic arthritis. ( 24786929 )
2014
34
A130: Is the CCR5-delta32 Mutation Protective Against Systemic-Onset Juvenile Idiopathic Arthritis? ( 24677884 )
2014
35
MEFV mutations in egyptian children with systemic-onset juvenile idiopathic arthritis. ( 24862656 )
2014
36
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 )
2014
37
Atopy in children with systemic onset juvenile idiopathic arthritis (SoJIA) is associated with a worse outcome. ( 24611751 )
2014
38
Soluble CD25 in serum: a potential marker for subclinical macrophage activation syndrome in patients with active systemic onset juvenile idiopathic arthritis. ( 24417800 )
2014
39
Congestive heart failure: an uncommon presentation of systemic onset juvenile idiopathic arthritis (SOJIA). ( 22161583 )
2013
40
AA amyloidosis associated with systemic-onset juvenile idiopathic arthritis. ( 23664546 )
2013
41
Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes. ( 23915458 )
2013
42
Incomplete Kawasaki disease followed by systemic onset juvenile idiopathic arthritis- the diagnostic dilemma. ( 23054859 )
2013
43
Systemic-onset juvenile idiopathic arthritis and HLA-B27 juvenile-onset undifferentiated spondyloarthritis in the same patient. ( 23295075 )
2013
44
Thalidomide for systemic onset juvenile idiopathic arthritis. ( 23474929 )
2013
45
Nodular regenerative hyperplasia of the liver as a complication of long-standing systemic-onset juvenile idiopathic arthritis. ( 24315465 )
2013
46
Systemic onset juvenile idiopathic arthritis with macrophage activation syndrome misdiagnosed as Kawasaki disease: case report and literature review. ( 21132551 )
2013
47
ANCA-associated glomerulonephritis in systemic-onset juvenile idiopathic arthritis. ( 22189036 )
2012
48
Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene. ( 20044784 )
2012
49
Initial manifestations and clinical course of systemic onset juvenile idiopathic arthritis: a ten-year retrospective study. ( 23089689 )
2012
50
Development of germinoma during the treatment of systemic-onset juvenile idiopathic arthritis with infliximab. ( 22072226 )
2012

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 16)
# 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
12.4 HLA-DRB1 IL2RB IL6
4
Show member pathways
11.88 IL1R1 IL6 MIF
5
Show member pathways
11.79 HLA-DRB1 IL1R1 IL2RB IL6
6
Show member pathways
11.67 IL1R1 IL2RB IL6
7 11.58 IL1R1 IL6 MIF
8 11.54 IL1R1 IL6
9 11.5 HLA-DRB1 IL6
10
Show member pathways
11.49 HLA-DRB1 IL1R1 IL2RB
11 11.43 IL1R1 IL2RB
12 11.33 HLA-DRB1 IL1R1 IL2RB IL6
13 11.32 HLA-DRB1 IL1R1 IL6
14
Show member pathways
11.29 IL6 MIF
15 11.15 IL1R1 IL6
16 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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