{"orpha":98826,"name":"Myelodysplastic neoplasm with low blasts","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MDS-LB","Refractory anemia"],"definition":"Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98826/","orphanet_url":"https://www.orpha.net/en/disease/detail/98826","names":{"fr":{"name":"Tumeur myélodysplasique avec faible nombre de blastes","synonyms":["Anémie réfractaire"],"definition":"Cytopénies réfractaires avec dysplasie unilignée (CRDU) sont un sous-type fréquent à faible risque du syndrome myélodysplasique (SMD) caractérisé par des cytopénies réfractaires associées à une dysplasie limitée à une lignée cellulaire."},"de":{"name":"Myelodysplastische Neoplasie mit niedrigem Blastenanteil","synonyms":["Anämie, refraktäre","MDS-LB"]},"es":{"name":"Neoplasia mielodisplásica con pocos blastos","synonyms":["Anemia refractaria","MDS-LB","Síndrome mielodisplásico con pocos blastos"],"definition":"La citopenia refractaria con displasia unilineal (CRDU) es un subtipo frecuente de síndrome mielodisplásico (SMD) de bajo riesgo caracterizado por citopenia refractaria asociada a displasia en una única línea celular."},"it":{"name":"Neoplasia mielodisplastica con riduzione dei blasti","synonyms":["Anemia refrattaria","MDS-LB"],"definition":"Le citopenie refrattarie con displasia monolineare (RCUD) sono un sottotipo comune e a basso rischio della sindrome mielodisplastica (MDS; si veda questo termine), caratterizzato da citopenie refrattarie associate alla displasia di una sola linea cellulare."},"nl":{"name":"Myelodysplastisch neoplasma met weinig blasten","synonyms":["MDS-LB","Refractaire anemie"],"definition":"Refractaire cytopenie met unilineaire dysplasie (RCUD) is een frequent subtype van myelodysplastisch syndroom (MDS; zie deze term) met een laag risico, en wordt gekarakteriseerd door refractaire cytopenieën geassocieerd met dysplasie die beperkt blijft tot één cellijn."},"pt":{"name":"Neoplasia mielodisplásica com redução de blastos","synonyms":["Anemia refratária","MDS-LB"]},"pl":{"name":"Nowotwór mielodysplastyczny z niską liczbą blastów","synonyms":["MDS-LB","Refractory anemia"]},"cs":{"name":"Refrakterní anémie","synonyms":["MDS-LB","Refractory anemia"]},"uk":{"name":"Мієлодиспластичне новоутворення з низьким рівнем бластів","synonyms":["MDS-LB","Рефрактерна анемія"],"definition":"Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage."},"zh":{"name":"难治性贫血","definition":"难治性细胞减少伴单核细胞异型增生(RCUD)是骨髓增生异常综合征(MDS，见该词条)的一种常见低风险亚型，其特征是局限于一个细胞系的难治性细胞减少伴单核细胞异型增生。"},"tr":{"name":"Refrakter anemi"}},"xrefs":[{"source":"ICD-10","code":"D46.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A30","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"149518956"},{"source":"MONDO","code":"0005272","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"5272","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000753","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2981142","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038269","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":86836,"name":"Refractory cytopenia with multilineage dysplasia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"TET2","name":"tet methylcytosine dioxygenase 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"19483684[PMID]_19557078[PMID]","hgnc":"25941","ensembl":"ENSG00000168769","omim":"612839","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"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":"2019-06-11","source":"31005849[PMID]_27776290[PMID]","terms":[{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012133","label":"Erythroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012150","label":"Single lineage myelodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030872","label":"Abnormal cardiac ventricular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001895","label":"Normochromic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null}]}}