H00526 | |
H number | H00526 |
Name | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; Jacobs syndrome |
Description | The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Affected individuals present with arthropathy associated with camptodactyly. Some patients have pericarditis with effusions. |
Category | Congenital malformation |
Network | - |
Gene | PRG4 [HSA:10216] [KO:K24286] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | MeSH: C537560 OMIM: 208250 |
Reference | PMID:12453309 AUTHORS Reginato AM, Olsen BR TITLE The role of structural genes in the pathogenesis of osteoarthritic disorders. JOURNAL Arthritis Res 4:337-45 (2002) DOI:10.1186/ar595 PMID:15702367 AUTHORS Shayan K, Ho M, Edwards V, Laxer R, Thorner PS TITLE Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. JOURNAL Pediatr Dev Pathol 8:26-33 (2005) DOI:10.1007/s10024-004-3035-z PMID:16429407 AUTHORS Alazami AM, Al-Mayouf SM, Wyngaard CA, Meyer B TITLE Novel PRG4 mutations underlie CACP in Saudi families. JOURNAL Hum Mutat 27:213 (2006) DOI:10.1002/humu.9399 PMID:16037531 AUTHORS Offiah AC, Woo P, Prieur AM, Hasson N, Hall CM TITLE Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. JOURNAL AJR Am J Roentgenol 185:522-9 (2005) DOI:10.2214/ajr.185.2.01850522 |