{"orpha":86839,"name":"Myelodysplastic neoplasm with increased blasts","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MDS with excess blasts","MDS-IB","RAEB","Refractory anemia with excess blasts"],"definition":"Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86839/","orphanet_url":"https://www.orpha.net/en/disease/detail/86839","names":{"fr":{"name":"Tumeur myélodysplasique avec augmentation des blastes","synonyms":["Anémie réfractaire avec excès de blastes"],"definition":"Anémie réfractaire avec excès de blastes (AREB) est un sous-type grave et fréquent du syndrome myélodysplasique (SMD) caractérisé par des cytopénies avec dysplasie unilignée ou multilignée et entre 5 et 19 % de blastes dans la moelle osseuse ou le sang."},"de":{"name":"Myelodysplastische Neoplasie mit erhöhtem Blastenanteil","synonyms":["MDS mit überzähligen Blasten","MDS-IB","RAEB","Refraktäre Anämie mit Blastenüberschuss"]},"es":{"name":"Neoplasia mielodisplásica con aumento de blastos","synonyms":["Anemia refractaria con exceso de blastos","MDS-IB","RAEB","SMD con exceso de blastos"],"definition":"Es un subtipo frecuente de síndrome mielodisplásico (SMD) grave caracterizado por citopenias con displasia uni- o multilineal y con un porcentaje entre 5 y 19% de blastos en médula ósea o sangre."},"it":{"name":"Neoplasia mielodisplastica con aumento di blasti","synonyms":["Anemia refrattaria con eccesso di blasti","MDS con eccesso di blasti","MDS-IB","RAEB"],"definition":"L'anemia refrattaria con eccesso di blasti (RAEB) è una forma comune e grave di sindrome mielodisplastica (MDS; si veda questo termine), caratterizzata da citopenie con displasia mono- o multilineare, e presenza di 5-19% di blasti nel midollo osseo o nel sangue."},"nl":{"name":"Myelodysplastisch neoplasma met overmaat aan blasten","synonyms":["MDS met overmaat aan blasten","MDS-IB","RAEB","Refractaire anemie met exces van blasten"],"definition":"Refractaire anemie met exces aan blasten (RAEB) is een frequent, ernstig subtype van myelodysplastisch syndroom (MDS; zie deze term), en wordt gekarakteriseerd door cytopenieën met uni- of multilineaire dysplasie en 5% tot 19% blastcellen in beenmerg of bloed."},"pt":{"name":"Neoplasia mielodisplásica com excesso de blastos","synonyms":["Anemia refratária com excesso de blastos","MDS com excesso de blastos","MDS-IB","RAEB"]},"pl":{"name":"Nowotwór mielodysplastyczny ze zwiększoną liczbą blastów","synonyms":["MDS with excess blasts","MDS-IB","RAEB","Refractory anemia with excess blasts"]},"cs":{"name":"Refrakterní anémie s excesem blastů","synonyms":["MDS with excess blasts","MDS-IB","RAEB","Refractory anemia with excess blasts"]},"uk":{"name":"Мієлодиспластичне новоутворення з підвищеною кількістю бластів","synonyms":["МДС з надлишком бластів","MDS-IB","RAEB","Рефрактерна анемія з надлишком бластів"],"definition":"Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood."},"zh":{"name":"难治性贫血伴原始细胞增多","synonyms":["RAEB"]},"tr":{"name":"Aşırı blast ile seyreden refrakter anemi","synonyms":["RAEB"]}},"xrefs":[{"source":"ICD-10","code":"D46.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A35","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"508306538"},{"source":"MONDO","code":"0019454","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19454","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000754","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002894","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038270","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":52688,"name":"Myelodysplastic syndrome","classifications":[194,202,233]}],"children":[{"orpha":100019,"name":"Myelodysplastic neoplasm with increased blasts type 1","type":"Clinical subtype"},{"orpha":100020,"name":"Myelodysplastic neoplasm with increased blasts type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":100019,"name":"Myelodysplastic neoplasm with increased blasts type 1"}},{"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"],"via":{"orpha":100020,"name":"Myelodysplastic neoplasm with increased blasts type 2"}}],"inheritance":["Not applicable"],"onset":["Adult"],"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 / 1 000 000","value":0.15,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-12","source":"22568928[PMID]_24958999[PMID]_27813084[PMID]_28260960[PMID]","terms":[{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001017","label":"Anemic pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012116","label":"Abnormal albumin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010876","label":"Abnormal circulating protein level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025065","label":"Abnormal mean corpuscular volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012136","label":"Dysplastic granulopoesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012148","label":"Multiple lineage myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012150","label":"Single lineage myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}