AS
MCID: ANK002
MIFTS: 75

Ankylosing Spondylitis (AS) malady

Summaries for Ankylosing Spondylitis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Ankylosing spondylitis is a type of arthritis of the spine. it causes swelling between the vertebrae and in the joints between the spine and pelvis. this autoimmune disease is more common and more severe in men than in women. it is likely caused by a combination of genetic and environmental factors, most of which have not yet been identified. researchers have found variations in several genes that influence the risk of developing this disorder. these genes include hla-b, erap1, il1a, and il23r. early symptoms of ankylosing spondylitis include back pain and stiffness. these problems often start in late adolescence or early adulthood. over time, ankylosing spondylitis can fuse the vertebrae together, limiting movement. symptoms can worsen, improve, or stop altogether. the disease has no cure, but medicines can relieve the pain, swelling and other symptoms. exercise can also help. last updated: 11/25/2009

MalaCards: Ankylosing Spondylitis, also known as spondyloarthritis ankylopoietica, is related to arthritis and uveitis, and has symptoms including pain, stiffness in the spine and stiffness in the neck. An important gene associated with Ankylosing Spondylitis is TAP1 (transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)), and among its related pathways are Allograft rejection and Immune response Fc epsilon RI pathway. The drugs piroxicam and ibuprofen and the compound rofecoxib have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and brain.

Disease Ontology:8 A bone inflammation disease that results in inflammation in the joints of the spine and pelvis. the disease has symptom pain, has symptom stiffness in the spine, has symptom stiffness in the neck, has symptom stiffness in the hips, has symptom stiffness in the jaw and has symptom stiffness in the rib cage.

MedlinePlus:34 Ankylosing spondylitis is a type of arthritis of the spine. it causes swelling between your vertebrae, which are the disks that make up your spine, and in the joints between your spine and pelvis. ankylosing spondylitis is an immune disease. the disease is more common and more severe in men. it often runs in families. early symptoms include back pain and stiffness. these problems often start in late adolescence or early adulthood. over time, ankylosing spondylitis can fuse your vertebrae together, limiting movement. symptoms can worsen or improve or stop altogether. the disease has no cure, but medicines can relieve the pain, swelling and other symptoms. exercise can also help. nih: national institute of arthritis and musculoskeletal and skin disease

Genetics Home Reference:21 Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. This progressive bony fusion is called ankylosis.

Wikipedia:64 Ankylosing spondylitis (AS, from Greek ankylos, fused; spondylos, vertebrae; -itis, inflammation),... more...

Aliases & Classifications for Ankylosing Spondylitis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 27ICD9CM, 35MeSH, 57SNOMED-CT, 40NCIt, 25ICD10
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Classifications:



Aliases & Descriptions:

ankylosing spondylitis 8 43 22 21 10 34 31 61
spondyloarthritis ankylopoietica 21
spondylarthritis ankylopoietica 21
ankylosing spondyloarthritis 43
spondylitis ankylopoietica 21
marie-struempell disease 21
spondylitis, ankylosing 21
marie-strumpell disease 8
spondylitis ankylosing 45
spondylarthropathies 61
bekhterev's disease 8
bekhterev syndrome 8
bechterew disease 21
as 21


External Ids:

Disease Ontology8 DOID:7147
ICD9CM27 720.0
MeSH35 D013167
SNOMED-CT57 9631008, 156619005
NCIt40 C84564
ICD1025 M45

Related Diseases for Ankylosing Spondylitis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ankylosing Spondylitis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 5425)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.6PSMB9, HLA-B, CRP, TAP2, MMP3
2uveitis31.3HLA-B
3psoriatic arthritis31.3CRP
4reactive arthritis31.0HLA-B, CRP, TAP2
5hepatitis c30.9KIR3DL1, TAP2
6crohn's disease30.9IL23R, CRP
7tuberculosis30.7CRP
8familial mediterranean fever30.6CRP
9ulcerative colitis30.5HLA-B, CRP, IL23R, MMP3
10systemic lupus erythematosus30.5CRP, TAP1, TAP2, MMP3
11arthropathy30.5CRP, MMP3
12hepatitis b30.5KIR3DL1, MMP3, HLA-B
13graves' disease30.4TAP2, TAP1, HLA-B, PSMB9
14acquired immunodeficiency syndrome30.4KIR3DL1, KIR2DL2, HLA-B
15kawasaki disease30.4MMP3, CRP
16rheumatic disease30.3CRP
17vaccinia30.2HLA-B
18behcet's disease30.2HLA-B, CRP, KIR3DL1
19burkitt's lymphoma30.0HLA-B, TAP2, MMP3, KIR3DL2, KIR3DL1
20sjogren's syndrome30.0TAP2, TAP1
21type 1 diabetes29.9PSMB9, HLA-B, TAP1, TAP2, KIR3DL1
22bronchiectasis29.7TAP2
23viral infectious disease29.5HLA-B, TAP1, TAP2, MMP3, KIR3DL1
24nasopharynx carcinoma29.1MMP3, TAP1, HLA-B, PSMB9
25spondylitis11.7
26cauda equina syndrome10.9
27anterior uveitis10.8
28adenocarcinoma10.8
29diffuse idiopathic skeletal hyperostosis10.7
30ankylosis10.7
31colorectal cancer10.7
32klebsiella10.7
33atlantoaxial subluxation10.7
34spondyloarthropathy10.7
35amyloidosis10.6
36adenoma10.6
37iritis10.6
38hepatitis a10.6
39asthma10.6
40amyloidosis, secondary10.6
41discitis10.5
42temporomandibular ankylosis10.5
43pulmonary function10.5
44t-cell leukemia10.5
45sepsis10.5
46acute myocardial infarction10.5
47ochronosis10.5
48atherosclerosis10.5
49vasculitis10.5
50alzheimer's disease10.5

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



Diseases related to ankylosing spondylitis

Clinical Features for Ankylosing Spondylitis

Sources:
8Disease Ontology
See all sources


Symptoms:

8 (show all 6)
  • pain
  • stiffness in the spine
  • stiffness in the neck
  • stiffness in the hips
  • stiffness in the jaw
  • stiffness in the rib cage

Drugs & Therapeutics for Ankylosing Spondylitis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Ankylosing Spondylitis

Drug clinical trials:

Search ClinicalTrials for Ankylosing Spondylitis

Search NIH Clinical Center for Ankylosing Spondylitis

Search CenterWatch for Ankylosing Spondylitis

Inferred drug relations via UMLS61/NDF-RT41:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Ankylosing Spondylitis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ankylosing Spondylitis:
Umbilical cord-derived mesenchymal stem cells to treat ankylosing spondylitis
Embryonic/Adult Cultured Cells Related to Ankylosing Spondylitis:
Umbilical cord-derived mesenchymal stem cells (family)
Placenta-derived mesenchymal stem cells (family)

Genetic Tests for Ankylosing Spondylitis

Sources:
22GTR
See all sources

Genetic tests related to Ankylosing Spondylitis:

id Genetic test Affiliating Genes
1 Ankylosing Spondylitis22

Anatomical Context for Ankylosing Spondylitis

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Ankylosing Spondylitis:

33
Bone marrow, Whole blood, Brain, Spinal cord, Heart, Skeletal muscle, Small intestine, Colon, Liver, Lung, Thyroid, Breast, Skin, Placenta, Myeloid, Monocytes, Nk cells, T cells, B cells, Endothelial, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Ankylosing Spondylitis:
id TissueAnatomical CompartmentCell Relevance
1 PlacentaChorionic VillusChorionic Mesenchymal Stromal Cells Potential therapeutic candidate
2 BloodCord BloodMesenchymal Stem Cells Potential therapeutic candidate
3 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate

Animal Models for Ankylosing Spondylitis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ankylosing Spondylitis

Sources:
51PubMed
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Articles related to Ankylosing Spondylitis:

(show top 50)    (show all 1233)
idTitleAuthorsYear
1
Clinical response, drug survival and predictors thereof in 432 ankylosing spondylitis patients after switching tumour necrosis factor I+ inhibitor therapy: results from the Danish nationwide DANBIO registry. (22941767)
2013
2
Operative Strategy for Different Types of Thoracolumbar Stress Fractures in Ankylosing Spondylitis. (23563333)
2013
3
A case of infliximab-induced lupus in a patient with ankylosing spondylitis: is it safe switch to another anti-TNF-I+ agent? (23955767)
2013
4
ERAP1 and ankylosing spondylitis. (23452840)
2013
5
The permanent improvement of proteinuria and renal failure with colchicine and enalapril in a leukemic patient with renal amyloidosis secondary to ankylosing spondylitis: a review of the literature. (22975660)
2013
6
Failure of conservative treatment for thoracic spine fracture in ankylosing spondylitis: delayed neurological deficit due to spinal epidural hematoma. (22821421)
2013
7
Evidence that autophagy, but not the unfolded protein response, regulates the expression of IL-23 in the gut of patients with ankylosing spondylitis and subclinical gut inflammation. (23740229)
2013
8
A rare cause of dysphagia: compression of the esophagus by an anterior cervical osteophyte due to ankylosing spondylitis. (24009460)
2013
9
Genetic variants on 17q21 are associated with ankylosing spondylitis susceptibility and severity in a Chinese Han population. (24219690)
2013
10
Increased risk of stroke among patients with ankylosing spondylitis: a population-based matched-cohort study. (24322454)
2013
11
A comparison of telephone and paper self-completed questionnaires of main patient-related outcome measures in patients with ankylosing spondylitis and psoriatic arthritis. (23793389)
2013
12
Increased levels of soluble TNF-like cytokine 1A in ankylosing spondylitis. (23204549)
2013
13
Ankylosing spondylitis: diagnosis and management. (24345154)
2013
14
NT-proBNP levels may be influenced by inflammation in active ankylosing spondylitis receiving TNF blockers: a pilot study. (23381669)
2013
15
Genetic variants in CARD8 but not in NLRP3 are associated with ankylosing spondylitis. (23547871)
2013
16
Infliximab-induced psoriasis in treatment of Crohn's disease-associated ankylosing spondylitis: case report and review of 142 cases. (23986169)
2013
17
The association between tumor necrosis factor alpha promoter polymorphisms and ankylosing spondylitis: a meta-analysis. (23831259)
2013
18
Compliance with NICE guidance on the use of anti-TNF agents in ankylosing spondylitis. (23342422)
2012
19
Mannose-binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis. (21544638)
2012
20
Biomechanical assessment of balance and posture in subjects with ankylosing spondylitis. (22931459)
2012
21
Ankylosing spondylitis in Ireland: patient access and response to TNF-I+ blockers. (21286722)
2012
22
TNF-I+ -857 and -1031 polymorphisms predict good therapeutic response to TNF-I+ blockers in Chinese Han patients with ankylosing spondylitis. (23057546)
2012
23
Adalimumab significantly reduces inflammation and serum DKK-1 level but increases fatty deposition in lumbar spine in active ankylosing spondylitis. (22898215)
2012
24
The information needs of people living with ankylosing spondylitis: a questionnaire survey. (23227937)
2012
25
Etoricoxib and the treatment of ankylosing spondylitis. (23126318)
2012
26
Association between HLA-B*27 polymorphisms and ankylosing spondylitis in Han populations: a meta-analysis. (21418777)
2011
27
KIR3DL1+HLA-B Bw4Ile80 and KIR2DS1+HLA-C2 combinations are both associated with ankylosing spondylitis in the Iranian population. (21797986)
2011
28
Expression of MHC class I dimers and ERAP1 in an ankylosing spondylitis patient cohort. (21574996)
2011
29
The association between TNF-alpha promoter polymorphisms and ankylosing spondylitis: a meta-analysis. (20535510)
2010
30
Increased expression of carbonic anhydrase I in the synovium of patients with ankylosing spondylitis. (21143847)
2010
31
The development of primary cutaneous adenoid cystic carcinoma in a patient with ankylosing spondylitis treated with etanercept. (19488017)
2009
32
Improvement in hemoglobin levels in patients with ankylosing spondylitis treated with infliximab. (19644896)
2009
33
Erythrocyte sedimentation rate, C-reactive protein level, and serum amyloid a protein for patient selection and monitoring of anti-tumor necrosis factor treatment in ankylosing spondylitis. (19877087)
2009
34
Activating KIR genes are associated with ankylosing spondylitis in Asian populations. (18638658)
2008
35
Serum IL-17, BMP-7, and bone turnover markers in patients with ankylosing spondylitis. (17369068)
2007
36
Serum leptin levels correlate with interleukin-6 levels and disease activity in patients with ankylosing spondylitis. (17476615)
2007
37
Retinol (vitamin A) and retinol-binding protein levels are decreased in ankylosing spondylitis: clinical and genetic analysis. (18050373)
2007
38
TLR4 mutations (Asp299Gly and Thr399Ile) are not associated with ankylosing spondylitis. (16837493)
2006
39
Susceptibility to ankylosing spondylitis: no evidence for the involvement of transforming growth factor beta 1 (TGFB1) gene polymorphisms. (15769917)
2005
40
Serum nitric oxide, catalase, superoxide dismutase, and malondialdehyde status in patients with ankylosing spondylitis. (12811507)
2004
41
Increased level of HLA-B27 expression in ankylosing spondylitis patients compared with healthy HLA-B27-positive subjects: a possible further susceptibility factor for the development of disease. (12468816)
2002
42
HLA class I and class II association with ankylosing spondylitis in a southern Indian population. (12021150)
2002
43
Focal sialadenitis in patients with ankylosing spondylitis and spondyloarthropathy: a comparison with patients with rheumatoid arthritis or mixed connective tissue disease. (11454637)
2001
44
Antibodies to Klebsiella pneumoniae in Dutch patients with ankylosing spondylitis and acute anterior uveitis and to Proteus mirabilis in rheumatoid arthritis. (9558179)
1998
45
A case report of lumboperitoneal shunt for cauda equina syndrome in ankylosing spondylitis. (1566188)
1992
46
Myositis ossificans progressiva mimicking ankylosing spondylitis: a case report. (1320997)
1992
47
Rapidly progressive aortic incompetence in juvenile ankylosing spondylitis: a case report. (6233987)
1984
48
Spontaneous atlantoaxial subluxation as a presenting manifestation of juvenile ankylosing spondylitis. A case report. (7071666)
1982
49
Cauda equina syndrome complicating ankylosing spondylitis: use of electromyography and computerised tomography in diagnosis. (7247478)
1981
50
Disturbed oesophageal manometric responses in patients with ankylosing spondylitis and pulmonary aspergilloma. (5427445)
1970

Genetic Variations for Ankylosing Spondylitis

Expression for genes affiliated with Ankylosing Spondylitis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ankylosing Spondylitis

Search GEO for disease gene expression data for Ankylosing Spondylitis.

Pathways for genes affiliated with Ankylosing Spondylitis

Sources:
30KEGG, 12EMD Millipore, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Ankylosing Spondylitis

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank
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Compounds related to Ankylosing Spondylitis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rofecoxib45 50 29 1113.6MMP3, CRP

GO Terms for genes affiliated with Ankylosing Spondylitis

Sources:
16Gene Ontology
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Cellular components related to Ankylosing Spondylitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:00588611.5KIR2DS5, HLA-B, CRP, TAP1, TAP2, KIR3DL2
2integral to plasma membraneGO:00588710.7HLA-B, KIR3DL2, KIR2DS3, KIR3DS1, KIR2DL4, KIR3DL1
3TAP complexGO:04282510.6TAP2, TAP1

Biological processes related to Ankylosing Spondylitis according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of immune responseGO:05077611.3KIR3DL1, HLA-B, KIR3DL2, KIR2DL2, KIR2DS2, KIR2DL4
2immune responseGO:00695511.1HLA-B, KIR2DS2, KIR3DS1, KIR2DS1, KIR3DL1, KIR2DS5
3antigen processing and presentation of peptide antigen via MHC class IGO:00247411.1PSMB9, HLA-B, TAP1, TAP2, ERAP1
4positive regulation of T cell mediated cytotoxicityGO:00191611.0TAP2, TAP1, IL23R, HLA-B
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00247910.9PSMB9, HLA-B, TAP1, TAP2
6antigen processing and presentation of endogenous peptide antigen via MHC class IGO:01988510.9ERAP1, TAP2, TAP1
7antigen processing and presentation of exogenous peptide antigen via MHC class IGO:04259010.9TAP2, TAP1, HLA-B, PSMB9
8innate immune responseGO:04508710.9KIR2DS5, KIR2DS1, KIR3DS1, KIR2DS2, HLA-B
9cytosol to ER transportGO:04696710.7TAP1, TAP2
10intracellular transport of viral proteins in host cellGO:01906010.6TAP2, TAP1
11peptide transportGO:01583310.5TAP2, TAP1
12cellular defense responseGO:00696810.4KIR3DL2, KIR2DS3, KIR2DL4

Molecular functions related to Ankylosing Spondylitis according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:04260510.9TAP2, TAP1, HLA-B
2tapasin bindingGO:04698010.8TAP1, TAP2
3peptide transporter activityGO:01519710.8TAP1, TAP2
4transmembrane signaling receptor activityGO:00488810.7KIR2DS1, KIR2DL4, KIR2DS2
5TAP2 bindingGO:04697910.7TAP1, TAP2
6TAP1 bindingGO:04697810.6TAP1, TAP2
7oligopeptide-transporting ATPase activityGO:01542110.5TAP1, TAP2
8MHC class I protein bindingGO:04228810.3TAP2, TAP1

Products for genes affiliated with Ankylosing Spondylitis

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Sources for Ankylosing Spondylitis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet