{"orpha":85182,"name":"Diaphyseal medullary stenosis-bone malignancy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bone dysplasia-medullary fibrosarcoma syndrome","Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome","Hardcastle syndrome"],"definition":"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85182/","orphanet_url":"https://www.orpha.net/en/disease/detail/85182","names":{"fr":{"name":"Syndrome de sténose médullaire diaphysaire-tumeur osseuse","synonyms":["Syndrome de Hardcastle","Syndrome de dysplasie osseuse-fibrosarcome médullaire","Syndrome de sténose médullaire diaphysaire-histocytome fibreux"],"definition":"Syndrome très rare de dysplasie/tumeur osseuse de transmission autosomique dominante caractérisé cliniquement par des infarctus osseux, des anomalies de croissance corticale, des fractures pathologiques et le développement d'un sarcome osseux (histiocytome fibreux malin)."},"de":{"name":"Diaphysäre medulläre Stenose - maligne Knochentumore","synonyms":["Diaphysäre medulläre Stenose - malignes fibröses Histiozytom","Knochendysplasie - medulläres Fibrosarkom"],"definition":"Die Diaphysäre Markstenose mit malignem fibrösem Histiozytom ist ein sehr seltenes, autosomal-dominant vererbtes Knochen-Dysplasie/Krebs-Syndrom. Klinische Merkmale sind Knocheninfarkte, kortikale Wachstumsstörungen, pathologische Frakturen und die Entwicklung eines Knochensarkoms (malignes fibröses Histiozytom)."},"es":{"name":"Síndrome de estenosis medular diafisaria-malignopatía ósea","synonyms":["Displasia ósea-fibrosarcoma medular","Estenosis medular diafisaria-histocitoma fibroso maligno"],"definition":"La estenosis medular diafisaria con histiocitoma fibroso maligno es un síndrome de displasia ósea/cáncer autosómico dominante muy poco frecuente, que se caracteriza clínicamente por infartos óseos, anomalías corticales del crecimiento, fracturas patológicas, y desarrollo de sarcoma óseo (histiocitoma fibroso maligno)."},"it":{"name":"Stenosi del canale midollare diafisario - tumore osseo","synonyms":["Displasia ossea - fibrosarcoma midollare","Stenosi del canale midollare diafisario - istiocitoma fibroso maligno"],"definition":"La stenosi midollare diafisaria con istiocitoma fibroso maligno è una sindrome molto rara da displasia/cancro dell'osso, a trasmissione autosomica dominante, caratterizzata da infarti ossei, anomalie della crescita corticale, fratture patologiche e sviluppo di sarcoma osseo (istiocitoma fibroso maligno)."},"nl":{"name":"Diafysaire medullaire stenose - botmaligniteit-syndroom","synonyms":["Botdysplasie - medullair fibrosarcoom-syndroom","Diafysaire medullaire stenose - kwaadaardig fibreus histiocytoom-syndroom","Diafysaire medullaire stenose - maligne fibreus histiocytoom-syndroom","Syndroom van Hardcastle"],"definition":"Een zeer zeldzaam autosomaal dominant botdysplasie/kanker-syndroom, klinisch gekenmerkt door botinfarct, afwijkingen van corticale groei, pathologische fracturen, en ontwikkeling van sarcoom van bot (maligne fibreus histiocytoom)."},"pt":{"name":"Estenose medular diafisária - neoplasia óssea"},"pl":{"name":"Zwężenie jamy szpikowej w trzonach kości - choroba rozrostowa kości","synonyms":["Dysplazja kości - włókniakomięsak szpiku","Zespół Hardcastle","Zwężenie jamy szpikowej w trzonach kości - złośliwa włóknista histiocytoma"]},"cs":{"name":"Syndrom zahrnující diafyzární medulární stenózu a kostní malignity","synonyms":["Syndrom zahrnující kostní dysplázii a medulární fibrosarkom","Syndrom zahrnující diafyzární medulární stenózu a maligní fibrózní histiocytom","Hardcastlův syndrom"]},"uk":{"name":"Діафізарний медулярний стеноз - злоякісний синдром кісток","synonyms":["Синдром кісткової дисплазії-медулярної фібросаркоми","Синдром діафізарного медулярного стенозу - злоякісна фіброзна гістіоцитома","Синдром Хардкасла"],"definition":"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)."},"zh":{"name":"骨干髓腔狭窄-骨恶性肿瘤综合征","synonyms":["骨干髓质狭窄-恶性纤维组织细胞瘤综合征"]},"tr":{"name":"Diafizer medüller stenoz-kemik malignite sendromu","synonyms":["Hardcastle sendromu","Kemik displazisi-medüller fibrosarkom sendromu","Diafizer medüller stenoz-habis fibröz histiyositoma sendromu"]}},"xrefs":[{"source":"OMIM","code":"112250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"747928135"},{"source":"MONDO","code":"0007205","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536169","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862177","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183527,"name":"Genetic bone tumor","classifications":[156]},{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]},{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]}],"children":[],"genes":[{"symbol":"MTAP","name":"methylthioadenosine phosphorylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7413","ensembl":"ENSG00000099810","omim":"156540","loci":["9p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}