{"orpha":2380,"name":"Legg-Calvé-Perthes disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aseptic necrosis of the capital femoral epiphysis","Osteochondrosis of the capital femoral epiphysis","Perthes disease"],"definition":"A rare osteochondrosis characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2380/","orphanet_url":"https://www.orpha.net/en/disease/detail/2380","names":{"fr":{"name":"Maladie de Legg-Calvé-Perthes","synonyms":["Maladie de Perthes","Ostéochondrite des épiphyses fémorales","Ostéochondrite primitive de hanche"],"definition":"Ostéochondrose rare caractérisée par une nécrose avasculaire uni- ou bilatérale de la tête fémorale chez l'enfant."},"de":{"name":"Legg-Calvé-Perthes-Krankheit","synonyms":["Osteochondritis der Femurkopfepiphyse","Osteochondrose der Hüftkopfepiphyse","Perthes-Krankheit"],"definition":"Eine seltene Osteochondrose, die durch eine ein- oder beidseitige avaskuläre Nekrose (AVN) des Femurkopfes bei Kindern gekennzeichnet ist."},"es":{"name":"Enfermedad de Legg-Calvé-Perthes","synonyms":["Enfermedad de Perthes","Necrosis aséptica de la epífisis capital femoral","Osteocondrosis de la epífisis capital femoral"],"definition":"Es una osteocondrosis poco frecuente caracterizada por necrosis avascular (NAV) uni- o bilateral de la cabeza femoral en niños."},"it":{"name":"Malattia di Legg-Calvé-Perthes","synonyms":["Malattia di Perthes","Necrosi asettica dell'epifisi capitale del femore","Osteocondrite dell'epifisi femorale capitale","Osteocondrosi dell'epifisi femorale capitale"]},"nl":{"name":"Ziekte van Legg-Calvé-Perthes","synonyms":["Aseptische necrose van epifyse van femurkop","Osteochondrose van epifyse van femurkop","Ziekte van Perthes"],"definition":"Een zeldzame osteochondrose, gekenmerkt door uni- of bilaterale avasculaire necrose (AVN) van femurkop bij kinderen."},"pt":{"name":"Doença de Legg-Calvé-Perthes","synonyms":["Doença de Perthes","Osteocondrite deformante"]},"pl":{"name":"Choroba Legga, Calvé i Perthesa","synonyms":["Aseptyczna martwica nasady głowy kości udowej","Choroba Perthesa","Osteochondroza nasady głowy kości udowej","Osteochondroza nasady głowy kości udowej"]},"cs":{"name":"Calvého-Leggova-Perthesova nemoc","synonyms":["Aseptická nekróza hlavice kosti stehenní","Perthesova nemoc","Osteochondritida epifýzy hlavice femuru","Osteochondróza epifýzy hlavice femuru","Calvé-Legg-Perthesova nemoc"]},"uk":{"name":"Хвороба Легга-Кальве-Пертеса","synonyms":["Асептичний некроз капілярного епіфізу стегнової кістки","Остеохондроз епіфіза великого вертлюга стегнової кістки","Хвороба Пертеса"],"definition":"A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children."},"zh":{"name":"Legg-CalvÚ-Perthes病","synonyms":["股骨头无菌性坏死"]},"tr":{"name":"Legg-Calvé-Perthes hastalığı","synonyms":["Perthes hastalığı","Femur başı epifizinin osteokondrozu","Femur başı epifizinin aseptik nekrozu"]}},"xrefs":[{"source":"OMIM","code":"150600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M91.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1915809570"},{"source":"MONDO","code":"0007885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007873","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1442965","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6874","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10034735","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399319,"name":"Osteochondrosis","classifications":[196,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17394019[PMID]_18512791[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Worldwide","status":"Validated","source":"22223709[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100773","label":"Cartilage destruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null}]}}