Spondyloarthropathy 1 (SPDA1)

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OMIM 57 106300 Disease Ontology 12 DOID:7147 ICD10 33 M45 ICD9CM 35 720.0 MeSH 44 D013167 D012058 D015535 D016918 more NCIt 50 C84564

SNOMED-CT 68 9631008 MedGen 42 C1862852 C0949691 KEGG 37 H01674 SNOMED-CT via HPO 69 60234000 24526004 302168000 414564002 161891005 9014002 239872002 102594003 44808001 698247007 4927003 359643005 35547002 more UMLS 73 C0038013 C0949691 C0003872 C0085435 C0035012 more

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...

Clinical features from OMIM:

106300

Search Clinical Trials , NIH Clinical Center for Spondyloarthropathy 1

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Search GEO for disease gene expression data for Spondyloarthropathy 1.