{"orpha":1416,"name":"Familial calcium pyrophosphate deposition","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Calcium pyrophosphate dihydrate crystal deposition disease","Familial CC","Familial CPPD","Familial articular chondrocalcinosis","Hereditary CC","Hereditary articular chondrocalcinosis","Hereditary calcium pyrophosphate deposition"],"definition":"A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1416/","orphanet_url":"https://www.orpha.net/en/disease/detail/1416","names":{"fr":{"name":"Arthropathie familiale à cristaux de pyrophosphate de calcium","synonyms":["Arthropathie à cristaux de pyrophosphate de calcium dihydraté","CC familiale","CC héréditaire","CPPD familiale","CPPD héréditaire","Chondrocalcinose articulaire héréditaire","Maladie des dépôts de pyrophosphate de calcium dihydraté"],"definition":"Maladie rhumatologique héréditaire rare qui entraîne la calcification du fibrocartilage articulaire ou du cartilage hyalin, un processus appelé chondrocalcinose (CC). Elle s'associe souvent à une synovite aiguë et à l'ostéoarthrite (OA)."},"de":{"name":"Familiäre Kalziumpyrophosphat-Ablagerung","synonyms":["CPPDD","Chondrokalzinose, artikuläre familiäre","Hereditäre artikuläre Chondrokalzinose","Kalciumpyrophosphat-Dihydrat (CPPD)-Kristall-Ablagerung","Kalziumpyrophosphat-Arthritis","Kalziumpyrophosphat-Kristallarthropathie"],"definition":"Eine seltene hereditäre rheumatologische Erkrankung, die zu einer Verkalkung des artikulären Faserknorpels oder hyalinen Knorpels führt, ein Prozess, der als Chondrokalzinose (CC) bezeichnet wird. Sie geht häufig mit einer akuten Synovitis und Osteoarthritis (OA) einher."},"es":{"name":"Deposición familiar de pirofosfato cálcico","definition":"Es una enfermedad reumatológica hereditaria poco frecuente que provoca la calcificación del fibrocartílago articular o del cartílago hialino, proceso denominado condrocalcinosis (CC). A menudo se asocia con sinovitis aguda y osteoartritis (OA)."},"it":{"name":"Accumulo familiare di pirofosfato di calcio","synonyms":["Accumulo ereditario di pirofosfato di calcio","CC ereditaria","CC familiare","CPPD familiare","Condrocalcinosi articolare ereditaria","Condrocalcinosi articolare familiare","Malattia da accumulo di cristalli di pirosfato di calcio diidrato"],"definition":"L'accumulo familiare di pirofosfato di calcio (CPPD) è una malattia reumatica ereditaria rara che causa la calcificazione della fibrocartilagine articolare o della cartilagine ialina, un processo definito condrocalcinosi (CC). Spesso si associa alla sinovite acuta e all'osteoartrite (OA)."},"nl":{"name":"Familiale depositie van calciumpyrofosfaat","synonyms":["Aandoening door depositie van calciumpyrofosfaatdihydraatkristallen","Erfelijke CC","Erfelijke afzetting van calciumpyrofosfaat","Erfelijke articulaire chondrocalcinose","Familiale CC","Familiale CPPD","Familiale articulaire chondrocalcinose"],"definition":"Een zeldzame, erfelijke reumatologische aandoening die calcificatie van fibreus of hyalien kraakbeen van gewricht veroorzaakt, een proces genaamd chondrocalcinose (CC). Het is vaak geassocieerd met acute synovitis en osteoartritis (OA)."},"pt":{"name":"Deposição de pirofosfato de cálcio familiar","synonyms":["Condrocalcinose articular familiar"]},"pl":{"name":"Rodzinne odkładanie się fosforanu wapnia","synonyms":["Choroba z odkładaniem się kryształów dwuwodnego fosforanu wapnia","Dziedziczna CC","Dziedziczna chondrokalcynoza stawów","Dziedziczne odkładanie się fosforanu wapnia","Rodzinna CC","Rodzinna chondrokalcynoza stawów","Rodzinna CPPD"]},"cs":{"name":"Familiární ukládání kalcium pyrofosfátu","synonyms":["Familiární CC","Familiární CPPD","Familiární kloubní chondrokalcinóza","Nemoc z ukládání krystalů kalcium pyrofosfát dihydrátu","Dědičná CC","Dědičná kloubní chondrokalcinóza","Dědičné ukládání kalcium pyrofosfátu"]},"uk":{"name":"Сімейні відкладення пірофосфату кальцію","synonyms":["Хвороба відкладення кристалів пірофосфату дигідрату кальцію","Сімейний суглобовий хондрокальциноз","Сімейний СС","Сімейний CPPD","Спадковий суглобовий хондрокальциноз","Спадкове відкладення пірофосфату кальцію","Спадковий СС"],"definition":"A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA)."},"zh":{"name":"家族性焦磷酸钙沉着","synonyms":["焦磷酸二水合钙结晶沉积病"]},"tr":{"name":"Ailesel kalsiyum pirofosfat birikimi","synonyms":["Ailesel CC","Ailesel CPPD","Kalıtsal CC","Ailesel eklem kondrokalsinozu","Kalıtsal eklem kondrokalsinozu","Kalıtsal kalsiyum pirofosfat birikimi","Kalsiyum pirofosfat dihidrat kristal birikim hastalığı"]}},"xrefs":[{"source":"OMIM","code":"118600","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"600668","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M11.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FA26.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"845625980"},{"source":"MONDO","code":"7319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5700249","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1292","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99781,"name":"OBSOLETE: Familial articular chondrocalcinosis type 1","status":"inactive"},{"type":"Referred to","orpha":99782,"name":"OBSOLETE: Familial articular chondrocalcinosis type 2","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":93447,"name":"Primary bone dysplasia with defective bone mineralization","classifications":[147,156,199]},{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"TNFRSF11B","name":"TNF receptor superfamily member 11b","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"29578045[PMID]","hgnc":"11909","ensembl":"ENSG00000164761","omim":"602643","loci":["8q24.12"]},{"symbol":"ANKH","name":"ANKH inorganic pyrophosphate transport regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21102543[PMID]","hgnc":"15492","ensembl":"ENSG00000154122","omim":"605145","loci":["5p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-05","source":"34696986[PMID]_26626724[PMID]","terms":[{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100593","label":"Calcification of cartilage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031013","label":"Ankylosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045082","label":"Decreased body mass index","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012649","label":"Increased inflammatory response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}