MCID: JVN059
MIFTS: 37

Juvenile Ankylosing Spondylitis

Categories: Immune diseases

Aliases & Classifications for Juvenile Ankylosing Spondylitis

MalaCards integrated aliases for Juvenile Ankylosing Spondylitis:

Name: Juvenile Ankylosing Spondylitis 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0040092
ICD10 34 M08.1
UMLS 74 C0409675

Summaries for Juvenile Ankylosing Spondylitis

Disease Ontology : 12 An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood.

MalaCards based summary : Juvenile Ankylosing Spondylitis is related to spondyloarthropathy 1 and spondylitis. An important gene associated with Juvenile Ankylosing Spondylitis is MRAP (Melanocortin 2 Receptor Accessory Protein), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. Affiliated tissues include skin, bone and heart, and related phenotypes are cellular and hematopoietic system

Related Diseases for Juvenile Ankylosing Spondylitis

Diseases related to Juvenile Ankylosing Spondylitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 spondyloarthropathy 1 31.4 MRAP TNF TNFRSF1B
2 spondylitis 30.8 IL1RN IL6 TNF TNFRSF1B
3 bursitis 30.8 MRAP PHB2
4 tendinitis 30.5 MRAP PHB2
5 enthesopathy 30.5 MEFV MRAP PHB2
6 joint disorders 30.0 IL1RN IL6 TNF
7 arthritis 29.7 IL1RN IL6 TNF TNFRSF1B
8 juvenile rheumatoid arthritis 29.7 IL1RN IL6 TNF TNFRSF1B
9 balanitis 10.4 MRAP PHB2
10 urethritis 10.4 MRAP PHB2
11 tenosynovitis 10.4 MRAP TNFRSF1B
12 orbital plasma cell granuloma 10.4 MRAP TNFRSF1B
13 posterior scleritis 10.4 MRAP TNF
14 chronic orbital inflammation 10.4 MRAP TNFRSF1B
15 skin sarcoidosis 10.3 TNF TNFRSF1B
16 chronic gonococcal salpingitis 10.3 TNF TNFRSF1B
17 granulomatous dermatitis 10.3 TNF TNFRSF1B
18 diffuse infiltrative lymphocytosis syndrome 10.3 MRAP TNF
19 specific bursitis often of occupational origin 10.3 MEFV MRAP
20 peroneal neuropathy 10.3 TNF TNFRSF1B
21 olecranon bursitis 10.3 MEFV MRAP
22 urethral syndrome 10.3 MRAP PHB2
23 systemic onset juvenile idiopathic arthritis 10.3 MEFV TNF
24 autoinflammation, panniculitis, and dermatosis syndrome 10.3 MEFV TNF
25 atlantoaxial subluxation 10.3
26 byssinosis 10.3 MEFV MRAP
27 coccidiosis 10.3 MRAP TNF
28 erysipelas 10.3 MEFV TNF
29 relapsing fever 10.3 MEFV TNF
30 chondromalacia 10.3 IL1RN TNFRSF1B
31 chronic salpingitis 10.3 TNF TNFRSF1B
32 inclusion conjunctivitis 10.3 MRAP TNF
33 conjunctival disease 10.3 MRAP TNF
34 vulvar vestibulitis syndrome 10.3 IL1RN TNF
35 glaucomatocyclitic crisis 10.3 MRAP TNF
36 blood group, globoside system 10.3 IL6 MRAP
37 myelitis 10.2 IL6 TNF
38 scorpion envenomation 10.2 IL6 TNF
39 leukomalacia 10.2 IL6 TNF
40 macular retinal edema 10.2 IL6 MRAP
41 angioimmunoblastic lymphadenopathy with dysproteinemia 10.2 IL6 TNF
42 autoimmune myocarditis 10.2 IL6 TNF
43 critical limb ischemia 10.2 IL6 TNF
44 streptococcal toxic-shock syndrome 10.2 IL6 TNF
45 cardiogenic shock 10.2 IL6 TNF
46 blau syndrome 10.2 MEFV TNF
47 null-cell leukemia 10.2 IL6 TNF
48 retinitis pigmentosa 55 10.2 IL6 TNF
49 mesenteric lymphadenitis 10.2 IL6 MRAP
50 glossitis 10.2 IL6 TNF

Graphical network of the top 20 diseases related to Juvenile Ankylosing Spondylitis:



Diseases related to Juvenile Ankylosing Spondylitis

Symptoms & Phenotypes for Juvenile Ankylosing Spondylitis

MGI Mouse Phenotypes related to Juvenile Ankylosing Spondylitis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 CD28 CD80 IL1RN IL6 MEFV PHB2
2 hematopoietic system MP:0005397 9.86 CD28 CD80 IL1RN IL6 MEFV PSMB9
3 endocrine/exocrine gland MP:0005379 9.8 CD28 CD80 IL6 PHB2 TNF TNFRSF1B
4 immune system MP:0005387 9.76 CD28 CD80 IL1RN IL6 MEFV PSMB9
5 integument MP:0010771 9.5 CD28 IL1RN IL6 MEFV PHB2 TNF
6 neoplasm MP:0002006 9.02 CD28 IL6 PSMB9 TNF TNFRSF1B

Drugs & Therapeutics for Juvenile Ankylosing Spondylitis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The CARRA Registry Completed NCT01697254
2 German Spondyloarthritis Inception Cohort Recruiting NCT01277419

Search NIH Clinical Center for Juvenile Ankylosing Spondylitis

Genetic Tests for Juvenile Ankylosing Spondylitis

Anatomical Context for Juvenile Ankylosing Spondylitis

MalaCards organs/tissues related to Juvenile Ankylosing Spondylitis:

42
Skin, Bone, Heart, Eye, Spinal Cord

Publications for Juvenile Ankylosing Spondylitis

Articles related to Juvenile Ankylosing Spondylitis:

(show all 36)
# Title Authors Year
1
The Disease of the Italian Poet Giacomo Leopardi (1798-1837): A Case of Juvenile Ankylosing Spondylitis in the 19th Century? ( 28489625 )
2017
2
Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis. ( 27826329 )
2016
3
Juvenile ankylosing spondylitis in Turner syndrome. ( 25073991 )
2013
4
Disability impact on quality of life in Mexican adults with juvenile idiopathic arthritis and juvenile ankylosing spondylitis. ( 18173931 )
2007
5
Spontaneous atlantoaxial subluxation as a presenting manifestation of juvenile ankylosing spondylitis in a female HLA-B27-negative patient. ( 15798910 )
2005
6
Juvenile ankylosing spondylitis--is it the same disease as adult ankylosing spondylitis? ( 14655021 )
2005
7
Infliximab in two patients with juvenile ankylosing spondylitis. ( 14648110 )
2004
8
Juvenile ankylosing spondylitis with uveitis. ( 12931754 )
2003
9
Tamale foot: deposit of acid mucopolysaccharides in the synovial sheaths of extensor tendons of the foot, resembling tendinitis, in a patient with juvenile ankylosing spondylitis. ( 10914870 )
2000
10
Shoulder, knee, and hip pain as initial symptoms of juvenile ankylosing spondylitis: a case report. ( 9475141 )
1998
11
A case of juvenile ankylosing spondylitis and Crohn's disease. ( 9223928 )
1997
12
Osteochondroma in a patient with juvenile ankylosing spondylitis associated with idiopathic thrombocytopenic purpura and alpha thalassemia. ( 8774559 )
1996
13
Prevalence of cardiac manifestations of juvenile ankylosing spondylitis. ( 7900679 )
1995
14
Association to HLA-DRB1*08, HLA-DPB1*0301 and homozygosity for an HLA-linked proteasome gene in juvenile ankylosing spondylitis. ( 8847233 )
1995
15
Chest expansion in healthy adolescents and patients with the seronegative enthesopathy and arthropathy syndrome or juvenile ankylosing spondylitis. ( 8308785 )
1993
16
Juvenile ankylosing spondylitis in X-linked agammaglobulinaemia. ( 8402008 )
1993
17
Immunological study in three families of juvenile ankylosing spondylitis. ( 1514412 )
1992
18
Juvenile ankylosing spondylitis. ( 1561399 )
1992
19
Uveitis of juvenile ankylosing spondylitis. ( 3418632 )
1988
20
Atlantoaxial subluxation in juvenile ankylosing spondylitis. ( 3619967 )
1987
21
Antibodies to peptidoglycan in juvenile ankylosing spondylitis. ( 3625658 )
1987
22
Tarsal ankylosis in juvenile ankylosing spondylitis. ( 3761186 )
1986
23
Bilateral deep infrapatellar bursitis associated with tibial tuberosity enthesopathy in a case of juvenile ankylosing spondylitis. ( 4048762 )
1985
24
Juvenile ankylosing spondylitis and HLA B27 homozygosity. ( 3873692 )
1985
25
Rapidly progressive aortic incompetence in juvenile ankylosing spondylitis: a case report. ( 6233987 )
1984
26
Enthesopathic erosive lesions of patella and tibial tuberosity in juvenile ankylosing spondylitis. Anatomico-radiological study of a case with tibial bursitis. ( 6416967 )
1983
27
Spontaneous atlantoaxial subluxation as a presenting manifestation of juvenile ankylosing spondylitis. A case report. ( 7071666 )
1982
28
Juvenile ankylosing spondylitis and aortic regurgitation: a case presentation. ( 7279473 )
1981
29
Aortic insufficiency in association with juvenile ankylosing spondylitis. ( 480020 )
1979
30
Atlantoaxial subluxation in juvenile ankylosing spondylitis. ( 690785 )
1978
31
Juvenile ankylosing spondylitis, its clinical features and HLA-B27. ( 836220 )
1977
32
Juvenile ankylosing spondylitis. ( 928708 )
1977
33
Juvenile ankylosing spondylitis. Report of three cases. ( 5164928 )
1971
34
Juvenile ankylosing spondylitis. ( 5315295 )
1971
35
Juvenile ankylosing spondylitis. ( 6025361 )
1967
36
Juvenile ankylosing spondylitis. ( 13725760 )
1960

Variations for Juvenile Ankylosing Spondylitis

Expression for Juvenile Ankylosing Spondylitis

Search GEO for disease gene expression data for Juvenile Ankylosing Spondylitis.

Pathways for Juvenile Ankylosing Spondylitis

Pathways related to Juvenile Ankylosing Spondylitis according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 CD28 CD80 IL1RN IL6 MEFV PSMB9
2
Show member pathways
13.42 CD28 CD80 IL1RN IL6 TNF TNFRSF1B
3
Show member pathways
13.19 CD28 CD80 IL6 TNF TNFRSF1B
4
Show member pathways
13.05 CD28 CD80 IL6 TNF TNFRSF1B
5
Show member pathways
13.04 CD80 IL1RN IL6 PSMB9 TNF TNFRSF1B
6
Show member pathways
12.57 CD28 CD80 IL6 TNF TNFRSF1B
7
Show member pathways
12.38 CD28 CD80 TNF TNFRSF1B
8 12.29 CD28 IL1RN TNF TNFRSF1B
9
Show member pathways
12 IL1RN IL6 TNF
10 11.95 IL1RN IL6 TNF
11 11.77 IL6 TNF TNFRSF1B
12
Show member pathways
11.74 CD28 CD80 IL6 TNF
13 11.71 IL6 TNF TNFRSF1B
14 11.62 CD28 CD80 IL6 TNF
15 11.42 CD28 CD80 IL6 TNF
16 11.31 CD28 TNF TNFRSF1B
17 11.21 IL6 TNF
18 11.18 IL6 TNF
19 11.17 CD28 CD80
20 11.13 TNF TNFRSF1B
21 11.12 IL6 TNF
22 11.11 CD80 IL1RN IL6 TNF
23 11.1 IL6 TNF
24 11.06 IL6 TNF
25 11.06 CD28 CD80 TNFRSF1B
26 11 CD80 IL6 TNF
27 10.91 IL6 TNF
28 10.83 IL6 TNF
29 10.71 CD80 IL1RN IL6 TNF TNFRSF1B

GO Terms for Juvenile Ankylosing Spondylitis

Cellular components related to Juvenile Ankylosing Spondylitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.26 CD28 CD80 PHB2 TNF
2 protein complex involved in cell adhesion GO:0098636 8.62 CD28 CD80

Biological processes related to Juvenile Ankylosing Spondylitis according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.77 CD28 IL6 PHB2
2 positive regulation of protein kinase B signaling GO:0051897 9.75 CD28 CD80 TNF
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.7 IL6 PHB2 TNF
4 response to glucocorticoid GO:0051384 9.65 IL1RN IL6 TNF
5 inflammatory response GO:0006954 9.65 IL1RN IL6 MEFV TNF TNFRSF1B
6 positive regulation of T cell proliferation GO:0042102 9.61 CD28 CD80 IL6
7 negative regulation of neurogenesis GO:0050768 9.58 IL6 TNF
8 positive regulation of interleukin-6 production GO:0032755 9.58 IL1RN IL6 TNF
9 positive regulation of chemokine production GO:0032722 9.57 IL6 TNF
10 positive regulation of glial cell proliferation GO:0060252 9.56 IL6 TNF
11 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.55 TNF TNFRSF1B
12 cytokine-mediated signaling pathway GO:0019221 9.55 CD80 IL1RN IL6 TNF TNFRSF1B
13 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.54 CD28 CD80
14 humoral immune response GO:0006959 9.54 CD28 IL6 TNF
15 negative regulation of lipid storage GO:0010888 9.51 IL6 TNF
16 positive regulation of neuroinflammatory response GO:0150078 9.49 IL6 TNF
17 negative regulation of interleukin-1-mediated signaling pathway GO:2000660 9.46 IL1RN IL6
18 immune response GO:0006955 9.43 CD28 CD80 IL1RN IL6 TNF TNFRSF1B
19 chronic inflammatory response to antigenic stimulus GO:0002439 9.02 TNF
20 cellular response to lipopolysaccharide GO:0071222 9.02 CD80 IL1RN IL6 TNF TNFRSF1B

Molecular functions related to Juvenile Ankylosing Spondylitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.32 CD28 CD80 IL1RN IL6 MEFV MRAP
2 coreceptor activity GO:0015026 9.16 CD28 CD80
3 cytokine activity GO:0005125 9.13 IL1RN IL6 TNF

Sources for Juvenile Ankylosing Spondylitis

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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