SPDA1
MCID: SPN225
MIFTS: 75
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Spondyloarthropathy 1 (SPDA1)
Categories:
Bone diseases, Genetic diseases, Muscle diseases, Rare diseases
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MalaCards integrated aliases for Spondyloarthropathy 1:
Characteristics:OMIM:57
Inheritance:
multifactorial
Miscellaneous:
overall prevalence is between 0.5 and 14 per 100,000 people per year genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 ) spondyloarthropathy includes a spectrum of related disorders, including, 1 - ankylosing spondylitis (as), 2 - a subset of psoriatic arthritis (psa), 3 - reactive arthritis (rea), 4 - arthritis associated with inflammatory bowel disease (aibd), 5 - undifferentiated spondyloarthropathy (uspa) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Bone diseases Muscle diseases
ICD10:
33
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MedlinePlus
:
43
Ankylosing spondylitis is a type of arthritis of the spine. It causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. In some people, it can affect other joints.
AS is more common and more severe in men. It often runs in families. The cause is unknown, but it is likely that both genes and factors in the environment play a role.
Early symptoms of AS include back pain and stiffness. These problems often start in late adolescence or early adulthood. Over time, AS can fuse your vertebrae together, limiting movement. Some people have symptoms that come and go. Others have severe, ongoing pain.
A diagnosis of AS is based on your medical history and a physical examination. You may also have imaging or blood tests.
AS has no cure, but medicines can relieve symptoms and may keep the disease from getting worse. Eating a healthy diet, not smoking, and exercising can also help. In rare cases, you may need surgery to straighten the spine.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Disease
MalaCards based summary : Spondyloarthropathy 1, also known as ankylosing spondylitis, is related to mycoplasma pneumoniae pneumonia and pneumonia, 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), and among its related pathways/superpathways are Antigen processing and presentation and Innate Immune System. Affiliated tissues include Placenta and Umbilical Cord, and related phenotypes are kyphosis and arrhythmia Disease Ontology : 12 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. Genetics Home Reference : 25 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. NIH Rare Diseases : 53 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. OMIM : 57 Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001). Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. (106300) UniProtKB/Swiss-Prot : 75 Spondyloarthropathy 1: A chronic rheumatic disease with multifactorial inheritance. It includes a spectrum of related disorders comprising ankylosing spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g. Reiter syndrome), arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthropathy. These disorders may occur simultaneously or sequentially in the same patient, probably representing various phenotypic expressions of the same disease. Ankylosing spondylitis is the form of rheumatoid arthritis affecting the spine and is considered the prototype of seronegative spondyloarthropathies. It produces pain and stiffness as a result of inflammation of the sacroiliac, intervertebral, and costovertebral joints. Wikipedia : 76 Ankylosing spondylitis (AS) is a type of arthritis in which there is long term inflammation of the... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:106300Symptoms:12
Human phenotypes related to Spondyloarthropathy 1:32 (show all 10)
UMLS symptoms related to Spondyloarthropathy 1:back pain, sciatica, muscle cramp MGI Mouse Phenotypes related to Spondyloarthropathy 1:46
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Inferred drug relations via UMLS 73 / NDF-RT 51 :Cell-based therapeutics:![]() 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:
Embryonic/Adult Cultured Cells Related to Spondyloarthropathy 1:
Cochrane evidence based reviews: spondylitis, ankylosing |
MalaCards organs/tissues related to Spondyloarthropathy 1:41
Bone,
Eye,
T Cells,
Testes,
Heart,
Endothelial,
Skin
![]() Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Spondyloarthropathy 1:
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Articles related to Spondyloarthropathy 1:(show top 50) (show all 2663)
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ClinVar genetic disease variations for Spondyloarthropathy 1:6
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Search
GEO
for disease gene expression data for Spondyloarthropathy 1.
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Pathways related to Spondyloarthropathy 1 according to KEGG:37
Pathways related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:(show all 15)
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Cellular components related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:
Biological processes related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:(show all 22)
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