Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seronegative arthritis is part of a multifactorial syndrome which also includes acute anterior uveitis (AAU), psoriasis, inflammatory bowel disease and forms of A-V block and aortic incompetence. The whole syndrome may be referred to as HEreditary Multifocal Relapsing Inflammation (HEMRI). Any sign may occur alone or in combinations with others. The signs may be triggered by infections, the arthritic components are then referred to as reactive arthritis. Genetic factors predetermine who is to contract disease when triggered. HLA-B27 itself is probably of major significance in ankylosing spondylitis and AAU. A genetic factor in linkage disequilibrium with HLA B13 and B17 is instrumental in familial psoriasis. Other genetic factors may determine psoriatic arthritis, and possibly also inflammatory bowel disease and juvenile arthritis. The genetic factors interact with each other and with the environmental factors when producing disease. Diagnosis should be based on demonstrated signs of disease. Classification according to genetic factors reflects etiology, disease manifestations and prognosis.
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PMID:Seronegative arthritis--etiology and diagnosis. 333 Feb 95

Patients hospitalized for psoriasis, acute anterior uveitis, ankylosing spondylitis or with chronic prostatis were examined. From previous reports and our own results we formulated hypotheses of the genetic mechanisms involved. We then examined all available adult relatives of 75 patients with ankylosing spondylitis. Our previously established genetic hypotheses were tested by segregation analyses in these families. All our results point to the existence of a syndrome of distinct but interacting genetic factors. The main factor is the HLA-B27 associated disease predisposition. Manifestation of this predisposition seems to be influenced by sex and by presence of factors coding for psoriasis and/or psoriatic arthropathy. Our results concerning psoriasis and psoriatic arthropathy supported the previous suggestions that these diseases exhibit genetic heterogeneity. It is known that disease signs may be triggered by infection in genetically predisposed persons. The syndrome therefore has a multifactorial aetiology. Seronegative arthropathy is a term that includes all arthritic components of the syndrome. There is a need for a term that encompasses all clinical signs of the genetic factors involved. We propose 'Hereditary multifocal relapsing inflammation' (HEMRI) as a descriptive term for this syndrome. The disease entities included may be regarded as subtypes of the syndrome.
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PMID:Seronegative arthropathy and associated diseases--a multigenic syndrome? 668 76