{"orpha":2848,"name":"Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Arthropathy-camptodactyly syndrome","CACP syndrome","Pericarditis-arthropathy-camptodactyly syndrome"],"definition":"A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2848/","orphanet_url":"https://www.orpha.net/en/disease/detail/2848","names":{"fr":{"name":"Syndrome de camptodactylie-arthropathie-coxa vara-péricardite","synonyms":["CACP","Syndrome d'arthropathie-camptodactylie","Syndrome de péricardite-arthrite-camptodactylie"],"definition":"Maladie rhumatologique rare d'origine génétique caractérisée par une camptodactylie congénitale ou d'apparition précoce et une arthropathie symétrique, polyarticulaire, non inflammatoire, des grosses articulations avec hyperplasie synoviale, ainsi qu'une déformation progressive en coxa vara et, dans certains cas, une péricardite non inflammatoire."},"de":{"name":"Kamptodaktylie-Arthropathie-Coxa vara-Perikarditis-Syndrom","synonyms":["Arthropathie-Kamptodaktylie-Syndrom","CACP-Syndrom","Jacobs-Syndrom","Perikarditis - Arthritis - Kamptodaktylie"],"definition":"Eine seltene rheumatologische Erkrankung, die durch angeborene oder früh einsetzende Kamptodaktylie und symmetrische, polyartikuläre, nicht-entzündliche Arthropathie der großen Gelenke mit Synovialhyperplasie sowie fortschreitende Coxa-vara-Fehlbildung und gelegentlich nicht-entzündliche Perikarditis gekennzeichnet ist."},"es":{"name":"Síndrome de camptodactilia-artropatía-coxa vara-pericarditis","synonyms":["Pericarditis-artropatía-camptodactilia","Síndrome CACP","Síndrome de artropatía-camptodactilia"],"definition":"Es una enfermedad reumatológica hereditaria, genética y poco frecuente, caracterizada por camptodactilia congénita o de inicio temprano, y artropatía, simétrica, poliarticular, no inflamatoria de las grandes articulaciones con hiperplasia sinovial, así como coxa vara progresiva y, ocasionalmente, pericarditis no inflamatoria."},"it":{"name":"Sindrome da camptodattilia, artropatia, coxa vara, pericardite","synonyms":["Pericardite - artropatia - camptodattilia","Sindrome CACP","Sindrome artropatia-camptodattilia","Sindrome di Jacobs"],"definition":"La sindrome che associa camptodattilia, artropatia, coxa vara e pericardite (CACP) è una malattia reumatologica rara, caratterizzata da camptodattilia congenita o ad esordio precoce associata ad artropatia simmetrica, poliarticolare, non infiammatoria delle grandi articolazioni con iperplasia sinoviale, coxa vara progressiva e, raramente, pericardite non infiammatoria."},"nl":{"name":"Camptodactylie - artropathie - coxa vara - pericarditis-syndroom","synonyms":["Artropathie - camptodactylie-syndroom","CACP-syndroom","Pericarditis - artropathie - camptodactylie-syndroom","Syndroom van Jacobs"],"definition":"Een zeldzame genetische reumatologische aandoening, gekenmerkt door congenitale of vroeg optredende camptodactylie en symmetrische, polyarticulaire, niet-inflammatoire artropathie van grote gewrichten met synoviale hyperplasie, alsook progressieve coxa vara (misvorming van heup), en in sommige gevallen inflammatoire pericarditis."},"pt":{"name":"Síndrome de camptodactilia-artropatia-coxa vara-pericardite","synonyms":["Síndrome CACP","Síndrome Jacobs","Síndrome de artropatia-camptodactilia","Síndrome de pericardite-artropatia-campodactilia"]},"pl":{"name":"Zespół kamptodaktylia-artropatia-biodro szpotawe-zapalenie osierdzia","synonyms":["Zapalenie osierdzia - artropatia - kamptodaktylia","Zespół artropatia-kamptodaktylia","Zespół CACP","Zespół Jacobs"],"definition":"Zespół kamptodaktylia-artropatia-biodro szpotawe-zapalenie osierdzia jest rzadką, genetycznie uwarunkowaną chorobą reumatologiczną, która charakteryzuje się kamptodaktylią wrodzoną lub o wczesnym początku oraz symetryczną, wielostawową, niezapalną artropatią dotyczącą dużych stawów, z przerostem błony maziowej, a także postępującą deformacją stawu biodrowego (biodro szpotawe) i bardzo rzadko niezapalnym zapaleniem osierdzia."},"cs":{"name":"Syndrom zahrnující kamptodaktylii, artropatii, coxa vara a perikarditidu","synonyms":["Syndrom zahrnující artropatii a kamptodaktylii","CACP syndrom","Syndrom zahrnující perikarditidu, artropatii a kamptodaktylii","Jacobsův syndrom"]},"uk":{"name":"Синдром камптодактилії-артропатії-coxa vara-перикардиту","synonyms":["Синдром артропатії-камптодактилії","Синдром CACP","Синдром перикардиту-артропатії-камптодактилії"],"definition":"A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis."},"zh":{"name":"屈曲指-关节病-髋内翻-心包炎综合征","synonyms":["心包炎-关节病-屈曲指综合征"]},"tr":{"name":"Kamptodaktili-artropati-koksa-vara-perikardit sendromu","synonyms":["CACP sendromu","Jacobs sendromu","Artropati-kamptodaktili sendromu","Perikardit-artropati-kamptodaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"208250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M12.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FA5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008828","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537560","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859690","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"306","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083494","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"PRG4","name":"proteoglycan 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10545950[PMID]","hgnc":"9364","ensembl":"ENSG00000116690","omim":"604283","loci":["1q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"15702367[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-09","source":"29397575[PMID]_32813152[PMID]_22678705[PMID]_34012381[PMID]","terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001836","label":"Camptodactyly of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003940","label":"Osteoarthritis of the elbow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005195","label":"Polyarticular arthropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001225","label":"Wrist swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008610","label":"Infantile sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100018","label":"Nuclear cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0033331","label":"Acute phase response","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Excluded (0%)","criteria":null}]}}