MCID: SPN225
MIFTS: 48

Spondyloarthropathy 1 malady

Genetic diseases, Rare diseases categories

Summaries for Spondyloarthropathy 1

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OMIM:45 Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders... (106300) more...

MalaCards based summary: Spondyloarthropathy 1, also known as ankylosing spondylitis, is related to spondylitis and arthritis, and has symptoms including pain, stiffness in the spine and stiffness in the neck. An important gene associated with Spondyloarthropathy 1 is HLA-B (major histocompatibility complex, class I, B). The drugs diclofenac and ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart.

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.

NIH Rare Diseases:41 Ankylosing spondylitis (as) is a type of chronic inflammatory arthritis that mainly affects the spine. it usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. back movement gradually becomes more limited as the vertebrae fuse together. the condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs. as is likely caused by a combination of genetic and environmental factors; variations in several genes are thought to affect the risk to develop as. in most cases, treatment involves exercise and medications to relieve pain and inflammation. last updated: 2/9/2015

MedlinePlus:32 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.

Aliases & Classifications for Spondyloarthropathy 1

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Spondyloarthropathy 1, Aliases & Descriptions:

Name: Spondyloarthropathy 1 45 30
Ankylosing Spondylitis 30 9 41 21 11 32 60
Spondylitis Ankylosing 43 22
Spondyloarthropathy, Susceptibility to, 1 10
Spondyloarthritis Ankylopoietica 21
Spondylarthritis Ankylopoietica 21
Ankylosing Spondyloarthritis 41
Marie-Strumpell Spondylitis 41
Spondylitis Ankylopoietica 21
 
Marie-Struempell Disease 21
Spondylitis, Ankylosing 21
Marie-Strumpell Disease 9
Spondylarthropathies 60
Bekhterev's Disease 9
Bechterew Syndrome 41
Bekhterev Syndrome 9
Bechterew Disease 21
As 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 106300
Disease Ontology9 DOID:7147
NCIt38 C84564
SNOMED-CT55 9631008, 156619005
ICD9CM27 720.0
MeSH33 D013167
ICD1025 M45

Related Diseases for Spondyloarthropathy 1

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Diseases in the Spondyloarthropathy family:

spondyloarthropathy 1

Diseases related to Spondyloarthropathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 5518)
idRelated DiseaseScoreTop Affiliating Genes
1spondylitis11.7
2arthritis11.1
3rheumatoid arthritis11.0
4cauda equina syndrome11.0
5uveitis10.9
6psoriatic arthritis10.9
7prostatitis10.9
8hepatitis10.9
9anterior uveitis10.9
10pancreatitis10.8
11adenocarcinoma10.8
12hyperostosis10.8
13prostate cancer10.8
14diffuse idiopathic skeletal hyperostosis10.8
15lung cancer10.8
16ankylosis10.8
17melanoma10.8
18cerebritis10.8
19colorectal cancer10.8
20sarcoma10.7
21neuronitis10.7
22reactive arthritis10.7
23spondyloarthropathy10.7
24cervicitis10.7
25atlantoaxial subluxation10.7
26hepatocellular carcinoma10.7
27aneurysm10.7
28myocardial infarction10.7
29obesity10.7
30crohn's disease10.7
31amyloidosis10.7
32blindness10.7
33adenoma10.6
34schizophrenia10.6
35renal cell carcinoma10.6
36asthma10.6
37pulmonary function10.6
38iritis10.6
39arachnoiditis10.6
40enthesopathy10.6
41pneumonia10.6
42psoriasis10.6
43encephalitis10.6
44hepatitis c10.6
45discitis10.6
46inflammatory bowel disease10.6
47multiple myeloma10.6
48ischemia10.6
49dementia10.6
50mesothelioma10.6

Graphical network of the top 20 diseases related to Spondyloarthropathy 1:



Diseases related to spondyloarthropathy 1

Symptoms for Spondyloarthropathy 1

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Symptoms by clinical synopsis from OMIM:

106300

Clinical features from OMIM:

106300

Symptoms:

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

HPO human phenotypes related to Spondyloarthropathy 1:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 arthritis HP:0001369
3 heterogeneous HP:0001425
4 multifactorial inheritance HP:0001426
5 aortic regurgitation HP:0001659
6 abnormality of metabolism/homeostasis HP:0001939
7 inflammation of the large intestine HP:0002037
8 abnormality of pelvic girdle bone morphology HP:0002644
9 kyphosis HP:0002808
10 back pain HP:0003418
11 psoriasis HP:0003765
12 arrhythmia HP:0011675
13 anterior uveitis HP:0012122
14 enthesitis HP:0100686

Drugs & Therapeutics for Spondyloarthropathy 1

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Drug clinical trials:

Search ClinicalTrials for Spondyloarthropathy 1

Search NIH Clinical Center for Spondyloarthropathy 1

Inferred drug relations via UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Spondyloarthropathy 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Spondyloarthropathy 1:
Umbilical cord-derived mesenchymal stem cells to treat ankylosing spondylitis
Embryonic/Adult Cultured Cells Related to Spondyloarthropathy 1:
Umbilical cord-derived mesenchymal stem cells (family)
Placenta-derived mesenchymal stem cells (family)

Genetic Tests for Spondyloarthropathy 1

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Genetic tests related to Spondyloarthropathy 1:

id Genetic test Affiliating Genes
1 Ankylosing Spondylitis22

Anatomical Context for Spondyloarthropathy 1

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MalaCards organs/tissues related to Spondyloarthropathy 1:

31
Bone, Eye, Heart, Lung, Skin

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Spondyloarthropathy 1:
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 Spondyloarthropathy 1 or affiliated genes

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Publications for Spondyloarthropathy 1

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Variations for Spondyloarthropathy 1

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Expression for genes affiliated with Spondyloarthropathy 1

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Search GEO for disease gene expression data for Spondyloarthropathy 1.

Pathways for genes affiliated with Spondyloarthropathy 1

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Compounds for genes affiliated with Spondyloarthropathy 1

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GO Terms for genes affiliated with Spondyloarthropathy 1

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Products for genes affiliated with Spondyloarthropathy 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spondyloarthropathy 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet