{"orpha":52688,"name":"Myelodysplastic syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of myeloid hemopathies characterized by blood cytopenias, marrow dysplasia and a high risk of progression to acute myeloid leukemia (AML).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52688/","orphanet_url":"https://www.orpha.net/en/disease/detail/52688","names":{"fr":{"name":"Syndrome myélodysplasique","definition":"Groupe d'hémopathies myéloïdes caractérisées par des cytopénies sanguines, une dysplasie médullaire et un risque élevé d'évolution vers une leucémie myéloïde aiguë (LMA)."},"de":{"name":"Myelodysplastische Syndrome","definition":"Eine Gruppe von myeloischen Hämopathien, die durch Blutzytopenien, Knochenmarkdysplasie und ein hohes Risiko der Entwicklung einer akuten myeloischen Leukämie (AML) gekennzeichnet sind."},"es":{"name":"Síndrome mielodisplásico","definition":"Es un grupo de hemopatías mieloides caracterizadas por citopenias sanguíneas, displasia medular y un riesgo elevado de progresión a leucemia mieloide aguda (LMA)."},"it":{"name":"Sindrome mielodisplastica"},"nl":{"name":"Myelodysplastisch syndroom","definition":"Een groep van myeloïde hemopathieën, gekenmerkt door cytopenie, dysplasie van beenmerg, en een hoog risico op progressie naar acute myeloïde leukemie (AML)."},"pt":{"name":"Síndromes mielodisplásicos","definition":"Grupo de hemopatias mieloides caracterizadas por citopenias sanguíneas, displasia da medula e elevado risco de progressão para leucemia mieloide aguda (LMA)."},"pl":{"name":"Zespół mielodysplastyczny"},"cs":{"name":"Myelodysplastický syndrom"},"uk":{"name":"Мієлодиспластичний синдром","definition":"A group of myeloid hemopathies characterized by blood cytopenias, marrow dysplasia and a high risk of progression to acute myeloid leukemia (AML)."},"zh":{"name":"骨髓增生异常综合征"},"tr":{"name":"Miyelodisplastik sendrom"}},"xrefs":[{"source":"OMIM","code":"614286","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0018881","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18881","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3463824","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7132","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028532","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":101096,"name":"OBSOLETE: Aregenerative anemia","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":171895,"name":"Myeloid hemopathy","classifications":[194,202,233]}],"children":[{"orpha":75564,"name":"Acquired idiopathic sideroblastic anemia","type":"Disease"},{"orpha":495930,"name":"Familial monosomy 7 syndrome","type":"Disease"},{"orpha":86839,"name":"Myelodysplastic neoplasm with increased blasts","type":"Disease"},{"orpha":86841,"name":"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality","type":"Disease"},{"orpha":168960,"name":"Refractory anemia with excess blasts in transformation","type":"Disease"},{"orpha":86836,"name":"Refractory cytopenia with multilineage dysplasia","type":"Clinical group"}],"genes":[{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"32747829[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.02,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.15,"area":"Germany","status":"Validated","source":"21708407[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Germany","status":"Validated","source":"21708407[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"France","status":"Validated","source":"OTHERitut National du Cancer 2013[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.35,"area":"Japan","status":"Not yet validated","source":"7718765[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.35,"area":"United States","status":"Validated","source":"18443215[PMID]_17345612[PMID]_National Cancer OTHERitute[OTHER]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.4,"area":"Greece","status":"Not yet validated","source":"23572136[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":8.5,"area":"United Kingdom","status":"Not yet validated","source":"7986716[PMID]_7819118[PMID]_ ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Sweden","status":"Not yet validated","source":"7720834[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Romania","status":"Validated","source":"19411107[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":8.1,"area":"Spain","status":"Validated","source":"14555322[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"United States","status":"Not yet validated","source":"emedicine 2009[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.95,"area":"Poland","status":"Validated","source":"27699872[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"Poland","status":"Validated","source":"27699872[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Switzerland","status":"Validated","source":"28056392[PMID]"}],"phenotypes":null}