AS
MCID: ANK002
MIFTS: 74

Ankylosing Spondylitis (AS) malady

Rare diseases, Bone diseases categories

Summaries for Ankylosing Spondylitis

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 reactive arthritis and psoriasis, and has symptoms including stiffness in the spine, stiffness in the neck and stiffness in the hips. 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 ABC-family proteins mediated transport and Primary immunodeficiency. The drugs diclofenac and ibuprofen and the compound mitoxantrone have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells.

Disease Ontology:9 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:35 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

Wikipedia:66 Ankylosing spondylitis (AS, from Greek ankylos, fused; spondylos, vertebra; -itis, inflammation),... more...

Aliases & Classifications for Ankylosing Spondylitis

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 35MedlinePlus, 32LifeMap Discovery™, 63UMLS, 36MeSH, 28ICD9CM, 59SNOMED-CT, 41NCIt, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

ankylosing spondylitis 9 44 23 22 11 35 32 63
spondyloarthritis ankylopoietica 22
spondylarthritis ankylopoietica 22
ankylosing spondyloarthritis 44
spondylitis ankylopoietica 22
marie-struempell disease 22
spondylitis, ankylosing 22
marie-strumpell disease 9
spondylitis ankylosing 46
spondylarthropathies 63
bekhterev's disease 9
bekhterev syndrome 9
bechterew disease 22
as 22


External Ids:

Disease Ontology9 DOID:7147
MeSH36 D013167
ICD9CM28 720.0
SNOMED-CT59 9631008, 156619005
NCIt41 C84564
ICD1026 M45

Related Diseases for Ankylosing Spondylitis

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Ankylosing Spondylitis:



Diseases related to ankylosing spondylitis

Symptoms for Ankylosing Spondylitis

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9Disease Ontology
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Symptoms:

9
  • stiffness in the spine
  • stiffness in the neck
  • stiffness in the hips
  • stiffness in the jaw
  • stiffness in the rib cage
  • pain

Drugs & Therapeutics for Ankylosing Spondylitis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

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

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23GTR
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Genetic tests related to Ankylosing Spondylitis:

id Genetic test Affiliating Genes
1 Ankylosing Spondylitis23

Anatomical Context for Ankylosing Spondylitis

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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Ankylosing Spondylitis:

34
Bone, Skin, T cells, Testes, Endothelial, Heart, Whole blood, Eye, Myeloid, Thyroid, Monocytes, Colon, Pituitary, Bone marrow, Liver, Lung, Brain, Breast, B cells, Nk cells

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

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Publications for Ankylosing Spondylitis

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53PubMed
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Articles related to Ankylosing Spondylitis:

(show top 50)    (show all 1223)
idTitleAuthorsYear
1
Antitumour necrosis factor I+ treatment reduces retinol-binding protein 4 serum levels in non-diabetic ankylosing spondylitis patients. (24323393)
2013
2
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
3
Trends of ankylosing spondylitis ossification. (23864924)
2013
4
MICA, a gene contributing strong susceptibility to ankylosing spondylitis. (23727634)
2013
5
Comparison of two referral strategies for diagnosis of axial spondyloarthritis: the Recognising and Diagnosing Ankylosing Spondylitis Reliably (RADAR) study. (23065731)
2013
6
Association between ED in ankylosing spondylitis: a population-based study. (23552581)
2013
7
Airway management in cervical spine ankylosing spondylitis: Between a rock and a hard place. (24403620)
2013
8
Usage of Conventional PCR Technology for the Detection of HLA-B27 Allele: A Significant Molecular Marker of Ankylosing Spondylitis. (24426208)
2013
9
Morphometric Vertebral Assessments via the Use of Dual X-ray Absorptiometry for the Evaluation of Radiographic Damage in Ankylosing Spondylitis: A Pilot Study. (24161790)
2013
10
CT- and fluoroscopy-guided percutaneous screw fixation of a "carrot-stick" spinal fracture in an elderly man with ankylosing spondylitis. (23842576)
2013
11
Cardiorespiratory fitness and cardiovascular risk in patients with ankylosing spondylitis: a cross-sectional comparative study. (23281265)
2013
12
In situ analysis of interleukin-23- and interleukin-12-positive cells in the spine of patients with ankylosing spondylitis. (23508523)
2013
13
Old and new HLA associations with ankylosing spondylitis. (22881057)
2012
14
Paediatric rheumatology: RCT of adalimumab supports anti-TNF therapy for juvenile-onset ankylosing spondylitis. (23147904)
2012
15
Conventional DMARD therapy (methotrexate-sulphasalazine) may decrease the requirement of biologics in routine practice of ankylosing spondylitis patients: a real-life experience. (23253235)
2012
16
Significant association between insertion/deletion polymorphism of the angiotensin-convertig enzyme gene and ankylosing spondylitis. (22876137)
2012
17
Whole-blood gene expression profiling in ankylosing spondylitis shows upregulation of toll-like receptor 4 and 5. (20952467)
2011
18
Hypoparathyroidism mimicking ankylosing spondylitis and myopathy: a case report. (21876989)
2011
19
Effects of genetic polymorphisms of programmed cell death 1 and its ligands on the development of ankylosing spondylitis. (21791547)
2011
20
Expansion of intestinal CD4+CD25(high) Treg cells in patients with ankylosing spondylitis: a putative role for interleukin-10 in preventing intestinal Th17 response. (20722024)
2010
21
Predominant association of HLA-B*2704 with ankylosing spondylitis in Chinese Han patients. (19804562)
2010
22
Severe atlantoaxial subluxation in early ankylosing spondylitis. (20921854)
2010
23
Genetic aspects of osteopenia/osteoporosis in ankylosing spondylitis]. (19938354)
2009
24
Pro-inflammatory effect of leptin on peripheral blood mononuclear cells of patients with ankylosing spondylitis. (19059800)
2009
25
IL-23R polymorphisms in patients with ankylosing spondylitis in Korea. (19369463)
2009
26
The development of primary cutaneous adenoid cystic carcinoma in a patient with ankylosing spondylitis treated with etanercept. (19488017)
2009
27
Relapsing cutaneous leishmaniasis in a patient with ankylosing spondylitis treated with infliximab. (19556566)
2009
28
Beneficial effects of adalimumab on biomarkers reflecting structural damage in patients with ankylosing spondylitis. (18785308)
2008
29
Male osteoporosis with vertebral fractures? Look for ankylosing spondylitis! A report of 10 cases. (17918785)
2007
30
Occlusive retinal vasculitis in a patient with ankylosing spondylitis. (15999133)
2006
31
Elevated serum levels of soluble receptor activator of nuclear factors-kappaB ligand (sRANKL) and reduced bone mineral density in patients with ankylosing spondylitis (AS). (16567356)
2006
32
Increased expression of macrophage colony-stimulating factor in ankylosing spondylitis and rheumatoid arthritis. (17105859)
2006
33
Study of undifferentiated spondyloarthropathy among first-degree relatives of ankylosing spondylitis probands. (15741196)
2005
34
Early-onset ankylosing spondylitis is associated with a functional MICA polymorphism. (16386647)
2005
35
Bone turnover markers, anterior pituitary and gonadal hormones, and bone mass evaluation using quantitative computed tomography in ankylosing spondylitis. (15592691)
2005
36
Which patients with ankylosing spondylitis should be treated with tumour necrosis factor inhibiting therapy? A survey among Dutch rheumatologists. (15082483)
2004
37
Cytokine correlates of clinical response patterns to infliximab treatment of ankylosing spondylitis. (14672897)
2004
38
Efficacy of anakinra in active ankylosing spondylitis: a clinical and magnetic resonance imaging study. (15066864)
2004
39
Novel approaches in the treatment of ankylosing spondylitis and other spondyloarthritides. (12831346)
2003
40
Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis. (12746911)
2003
41
Anti-tumour necrosis factor alpha therapy for ankylosing spondylitis: international experience. (12381511)
2002
42
Interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in ankylosing spondylitis. (12468823)
2002
43
Interleukin 6 gene promoter polymorphism is not associated with ankylosing spondylitis. (10852271)
2000
44
Ankylosing spondylitis: time to focus on ankylosis. (10229392)
1999
45
Humoral immune response to Klebsiella capsular polysaccharides in HLA-B27-positive patients with acute anterior uveitis and ankylosing spondylitis. (9892502)
1998
46
A genome-wide screen for susceptibility loci in ankylosing spondylitis. (9550467)
1998
47
Osteomalacia and osteoporosis in a woman with ankylosing spondylitis. (9157786)
1996
48
Spinal abnormalities similar to ankylosing spondylitis in a 58-year-old woman with ochronosis. (7641516)
1995
49
IgM, IgA and IgG class serum antibodies against Klebsiella pneumoniae and Escherichia coli lipopolysaccharides in patients with ankylosing spondylitis. (7981989)
1994
50
Rapidly progressive aortic incompetence in juvenile ankylosing spondylitis: a case report. (6233987)
1984

Variations for Ankylosing Spondylitis

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Expression for genes affiliated with Ankylosing Spondylitis

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN
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Pathways related to Ankylosing Spondylitis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0TAP2, TAP1
210.0TAP1, TAP2
310.0TAP1, HLA-B
49.8TAP2, TAP1, HLA-B
5
Show member pathways
9.6HLA-B, ERAP1, TAP1, TAP2
68.8KIR2DS3, KIR2DS1, KIR2DS5, HLA-B
7
Show member pathways
8.6HLA-B, KIR2DS5, KIR2DS1, KIR2DS3, KIR3DS1
8
Show member pathways
8.1HLA-B, KIR2DS5, KIR2DS1, KIR2DS3, ERAP1, TAP1
9
Show member pathways
Immune response CD16 signaling in NK cells61
7.7HLA-B, KIR2DS5, KIR2DS1, KIR2DS3, KIR2DS2, KIR2DL5A
10
Show member pathways
7.3TAP2, HLA-B, KIR2DS5, KIR2DS1, KIR2DS3, KIR2DS2

Compounds for genes affiliated with Ankylosing Spondylitis

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46Novoseek, 52PharmGKB, 12DrugBank
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Compounds related to Ankylosing Spondylitis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mitoxantrone46 52 1212.0TAP2, TAP1

GO Terms for genes affiliated with Ankylosing Spondylitis

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17Gene Ontology
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Cellular components related to Ankylosing Spondylitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TAP complexGO:0428259.7TAP2, TAP1
2plasma membraneGO:0058867.3KIR2DS5, KIR2DS1, KIR2DS2, KIR2DL5A, KIR3DS1, TAP1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cytosol to ER transportGO:04696710.2TAP2, TAP1
2oligopeptide transmembrane transportGO:03567210.2TAP2, TAP1
3intracellular transport of viral protein in host cellGO:01906010.2TAP1, TAP2
4peptide transportGO:01583310.0TAP2, TAP1
5antigen processing and presentation of endogenous peptide antigen via MHC class IGO:01988510.0TAP1, ERAP1, TAP2
6antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.9TAP1, TAP2, HLA-B
7antigen processing and presentation of peptide antigen via MHC class IGO:0024749.8HLA-B, TAP2, TAP1, ERAP1
8positive regulation of T cell mediated cytotoxicityGO:0019169.8TAP2, TAP1, IL23R, HLA-B
9antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.5HLA-B, TAP1, TAP2
10regulation of immune responseGO:0507768.8KIR2DS2, KIR2DS1, HLA-B
11immune responseGO:0069558.2HLA-B, KIR2DS5, KIR2DS1, KIR2DS2, KIR3DS1
12innate immune responseGO:0450877.9HLA-B, KIR2DS5, KIR2DS1, KIR2DS2, KIR3DS1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1tapasin bindingGO:04698010.2TAP1, TAP2
2MHC class Ib protein bindingGO:02302910.2TAP1, TAP2
3peptide transporter activityGO:01519710.1TAP1, TAP2
4oligopeptide-transporting ATPase activityGO:01542110.0TAP2, TAP1
5MHC class I protein bindingGO:04228810.0TAP2, TAP1
6peptide antigen bindingGO:04260510.0TAP2, TAP1, HLA-B
7TAP2 bindingGO:0469799.9TAP1, TAP2
8TAP1 bindingGO:0469789.7TAP1, TAP2

Products for genes affiliated with Ankylosing Spondylitis

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Sources for Ankylosing Spondylitis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet