Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive genetic medical condition due to a mutation in the gene proteoglycan 4 ( PRG4 ) – a mucin -type glycoprotein that acts as a lubricant for the cartilage surfaces. This gene is also known as lubricin.
5-464: CACP might refer to: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Proteoglycan 4 , extracellular protein Organisations and government [ edit ] Canadian Association of Chiefs of Police Commission for Agricultural Costs and Prices , India Communauté d'agglomération de Cergy-Pontoise , France Conservation of
10-444: A joint effusion that is cool and resistant to anti-inflammatory therapy. The arthropathy principally involves large joints such as elbows, hips, knees, and ankles. Pericarditis may be a presenting feature or may occur later in the course of the disease. Coxa vara occurs in 50–90% of cases and noninflammatory pericarditis in 30%. The gene responsible for this condition is located on the long arm of chromosome 1 (1q). The encoded protein
15-587: Is a glycoprotein of ~345 kDa specifically synthesized by chondrocytes located at the surface of articular cartilage , and also by some synovial lining cells. The cDNA encodes a protein of 1,404 amino acids (human A isoform) with a somatomedin B homology domain, heparin -binding domains, multiple mucin -like repeats, a hemopexin domain, and an aggregation domain. There are 3 consensus sequences for N-glycosylation and 1 chondroitin sulfate substitution site. The full blood count, erythrocyte sedimentation rate and C reactive protein are normal. Synovial fluid
20-446: Is different from Wikidata All article disambiguation pages All disambiguation pages Camptodactyly-arthropathy-coxa vara-pericarditis syndrome This condition was first described in 1986. and is a syndrome of camptodactyly , arthropathy , coxa vara , and pericarditis . It may also include congenital cataracts . The cause of this syndrome was discovered in 1999. Children with this syndrome often present with
25-539: The Asiatic Cheetah Project , Iran Topics referred to by the same term [REDACTED] This disambiguation page lists articles associated with the title CACP . If an internal link led you here, you may wish to change the link to point directly to the intended article. Retrieved from " https://en.wikipedia.org/w/index.php?title=CACP&oldid=819672817 " Category : Disambiguation pages Hidden categories: Short description
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