{"orpha":166002,"name":"Multiple epiphyseal dysplasia due to collagen 9 anomaly","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166002/","orphanet_url":"https://www.orpha.net/en/disease/detail/166002","names":{"fr":{"name":"Dysplasie épiphysaire multiple due à une anomalie du collagène 9","definition":"Une dysplasie osseuse primaire rare caractérisée par une taille normale ou légèrement réduite, l'apparition précoce d'une douleur et/ou une raideur articulaire (affectant surtout les genoux, mais aussi les coudes, les poignets, les chevilles et les doigts, la hanche étant relativement épargnée), et une maladie articulaire dégénérative précoce. D'autres anomalies squelettiques (incluant des formations en varus ou valgus, une ostéochondrite disséquante, des os carpiens de forme anormale, des corps articulaires libres) et une myopathie légère ont aussi été rapportées."},"de":{"name":"Dysplasie, epiphysäre multiple, durch Kollagen 9-Anomalie","definition":"Eine seltene primäre Knochendysplasie, die durch normale oder milde Kleinwüchsigkeit, früh einsetzende Schmerzen und/oder Steifheit der Gelenke (hauptsächlich an den Knien, aber auch an Ellbogen, Handgelenken, Knöcheln und Fingern, wobei die Hüften relativ verschont bleiben) und frühe degenerative Gelenkerkrankungen gekennzeichnet ist. Andere Skelettanomalien (inkl. Varus- oder Valgusdeformitäten, Osteochondritis dissecans, abnorme Karpalform, freie Gelenkkörper) und leichte Myopathie wurden ebenfalls berichtet."},"es":{"name":"Displasia epifisaria múltiple por anomalía del colágeno 9","definition":"Es una displasia ósea primaria poco frecuente caracterizada por talla baja leve o normal, dolor de inicio temprano y/o rigidez de las articulaciones (afectando principalmente a las rodillas, pero también a los codos, muñecas, tobillos y dedos de las manos, con relativa conservación de las caderas) y enfermedad articular degenerativa temprana. También se han descrito otras anomalías esqueléticas (incluyendo malformaciones en varo o en valgo, osteocondritis disecante, anomalías del carpo, cuerpos articulares libres) y leve miopatía."},"it":{"name":"Displasia epifisaria multipla da anomalia del collagene 9","definition":"La displasia epifisaria multipla da anomalie del collagene 9 è una displasia scheletrica primitiva rara, caratterizzata da statura normale o moderatamente bassa, dolore e/o rigidità articolare ad esordio precoce (che interessa soprattutto le ginocchia, ma anche i gomiti, i polsi, le caviglie e le dita, ma risparmia relativamente le anche) e degenerazione delle articolazioni ad esordio precoce. Sono stati descritti pazienti con altre anomalie scheletriche (deformità in varismo o valgismo, osteocondrite dissecante, anomalie della morfologia dei carpi, presenza di corpi liberi articolari) e una lieve miopatia."},"nl":{"name":"Multipele epifysaire dysplasie door collageen 9-anomalie","synonyms":["Meervoudige epifysaire dysplasie door collageen 9-anomalie"],"definition":"Multipele epifysaire dysplasie door collageen 9-anomalie is een zeldzame, primaire botdysplasie die gekarakteriseerd wordt door normale of mild kleine gestalte, vroeg aanvangende pijn aan en/of stijfheid van de gewrichten (voornamelijk de knieën maar ook ellebogen, polsen, enkele en vingers, met relatief gespaard blijven van de heupen) en vroege degeneratieve gewrichtsziekte. Andere skeletanomalieën (inclusief varus- of valgusmisvormingen, osteochondritis dissecans, abnormaal gevormde handwortelbeentjes, gewrichtsmuizen) en milde myopathie werden ook reeds gerapporteerd."},"pt":{"name":"Displasia epifisária múltipla por anomalia no colagénio 9"},"pl":{"name":"Dysplazja wielonasadowa z powodu anomalii kolagenu 9"},"cs":{"name":"Mnohočetná epifyzární dysplázie způsobená anomálií kolagenu 9"},"uk":{"name":"Множинна епіфізарна дисплазія внаслідок аномалії колагену 9","definition":"Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported."},"zh":{"name":"9型胶原异常所致多发性骨骺发育不良","definition":"胶原9异常所致多发性骨骺发育不良是一种罕见的原发性骨发育不良疾病，其特征是身材正常或轻度矮小，关节早发性疼痛和/或僵硬(主要累及膝盖，但也可累及肘关节、手腕、踝关节和手指，髋关节相对较少)和早期退行性关节疾病。其他骨骼异常(包括内翻或外翻畸形、骨软骨炎、腕骨形状异常、关节游离体)和轻度肌病也有报道。"},"tr":{"name":"Kollajen 9 anomalisine bağlı çoklu epifiz displazisi"}},"xrefs":[{"source":"OMIM","code":"600204","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600969","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614135","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"741183905"},{"source":"MONDO","code":"0015627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707798","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":251,"name":"Multiple epiphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"COL9A1","name":"collagen type IX alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301302[PMID]","hgnc":"2217","ensembl":"ENSG00000112280","omim":"120210","loci":["6q13"]},{"symbol":"COL9A2","name":"collagen type IX alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301302[PMID]","hgnc":"2218","ensembl":"ENSG00000049089","omim":"120260","loci":["1p34.2"]},{"symbol":"COL9A3","name":"collagen type IX alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301302[PMID]","hgnc":"2219","ensembl":"ENSG00000092758","omim":"120270","loci":["20q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":59.0,"area":"Worldwide","status":"Validated","source":"11565064[PMID]_11200990[PMID]_10655510[PMID]_20358595[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11565064[PMID]_11200990[PMID]_10655510[PMID]_20358595[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-09","source":"20358595[PMID]_16440132[PMID]_20301302[PMID]","terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012770","label":"Reduced arm span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003045","label":"Abnormal patella morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003999","label":"Abnormality of radial epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003946","label":"Abnormality of the epiphyses of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010631","label":"Abnormality of the epiphyses of the feet","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010665","label":"Bilateral coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009189","label":"Fragmentation of the metacarpal epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006190","label":"Radially deviated wrists","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006055","label":"Ulnar deviated club hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}