{"orpha":86841,"name":"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["5q- syndrome"],"definition":"A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86841/","orphanet_url":"https://www.orpha.net/en/disease/detail/86841","names":{"fr":{"name":"Syndrome myélodysplasique associé à une anomalie chromosomique isolée del(5q)","synonyms":["Syndrome 5q-"],"definition":"Syndrome myélodysplasique rare caractérisé par une anémie macrocytaire (en présence ou en absence d'autres cytopénies et/ou thrombocytose), avec une del(5q) survenant soit de manière isolée, soit associée à une autre anomalie cytogénétique, autre que la monosomie 7 ou la del(7q). La moelle osseuse est typiquement hypercellulaire avec une hypoplasie érythroïde et un nombre élevé de mégacaryocytes, qui présentent des noyaux non lobés et hypolobés. Les myéloblastes constituent moins de 5 % des cellules nucléées de la moelle osseuse et moins de 1 % des leucocytes du sang périphérique. Les tiges d'Auer sont absentes. On peut observer des sidéroblastes en couronne. Les patients présentent une anémie et souvent une thrombocytose, tandis que la thrombocytopénie ou la pancytopénie sont rares. Chez un petit nombre de patients, on peut observer une progression vers une leucémie myéloïde aiguë."},"de":{"name":"Myelodysplastisches Syndrom mit isolierter del(5q) Chromosomenanomalie","synonyms":["5q-Syndrom","5q-minus-Syndrom"],"definition":"Ein seltenes myelodysplastisches Syndrom, das durch makrozytäre Anämie (mit oder ohne andere Zytopenien und/oder Thrombozytose) gekennzeichnet ist und bei dem del(5q) entweder isoliert oder mit einer anderen zytogenetischen Anomalie als Monosomie 7 oder del(7q) auftritt. Das Knochenmark ist typischerweise hyperzellulär mit erythroider Hypoplasie und einer erhöhten Anzahl von Megakaryozyten, die nicht gelappte und hypolobierte Kerne aufweisen. Myeloblasten machen weniger als 5 % der kernhaltigen Knochenmarkzellen und weniger als 1 % der peripheren Blutleukozyten aus. Auer-Stäbchen sind nicht vorhanden. Es können Ring-Sideroblasten beobachtet werden. Die Patienten weisen eine Anämie und häufig eine Thrombozytose auf, während eine Thrombozytopenie oder Panzytopenie eher selten sind. Bei einer kleinen Anzahl von Patienten kann es zu einer akuten myeloischen Leukämie kommen."},"es":{"name":"Síndrome mielodisplásico asociado a una anomalía cromosómica aislada del(5q)","synonyms":["Síndrome 5q-"],"definition":"Es un síndrome mielodisplásico poco frecuente caracterizado por anemia macrocítica (con o sin otras citopenias y/o trombocitosis), y con del(5q) que se produce de forma aislada o junto con otra anomalía citogenética, distinta de la monosomía 7 o de la del(7q). La médula ósea es típicamente hipercelular con hipoplasia eritroide y un incremento del número de megacariocitos, que muestran núcleos hipo- y no lobulados. Los mieloblastos constituyen menos del 5% de las células nucleadas de la médula ósea y menos del 1% de los leucocitos de sangre periférica. Los bastones de Auer están ausentes. Se pueden observar sideroblastos en anillo. Los pacientes presentan anemia y, a menudo, trombocitosis, mientras que la trombocitopenia o pancitopenia son poco frecuentes. La transformación a leucemia mieloide aguda puede ocurrir en un pequeño número de pacientes."},"it":{"name":"Sindrome mielodisplastica associata ad anomalia cromosomica isolata del(5q)","synonyms":["Sindrome 5q-"],"definition":"Si tratta di una sindrome mielodisplastica rara, caratterizzata da anemia macrocitica (con o senza altre citopenie e/o trombocitosi) e da una del(5q) isolata o associata ad un'altra anomalia citogenetica diversa dalla monosomia 7 e dalla del(7q). Di solito il midollo osseo è ipercellulare con ipoplasia eritroide ed un aumento del numero dei megacariociti, che presentano nuclei non lobati e ipolobati. I mieloblasti rappresentano meno del 5% delle cellule nucleate del midollo osseo e meno dell'1% dei leucociti del sangue periferico. Non sono presenti i corpi di Auer, mentre è possibile osservare sideroblasti ad anello. I pazienti presentano anemia e, spesso, trombocitosi, mentre sono rare la trombocitopenia e la pancitopenia. In un numero ristretto di pazienti la malattia evolve verso la leucemia mieloide acuta."},"nl":{"name":"Myelodysplastisch syndroom geassocieerd met geïsoleerde del(5q) chromosoomabnormaliteit","synonyms":["5q-syndroom"],"definition":"Een zeldzaam myelodysplastisch syndroom, gekarakteriseerd door macrocytaire anemie (met of zonder andere cytopenieën en/of trombocytose), en met del(5q) dat ofwel geïsoleerd optreedt, ofwel samen met een andere cytogenetische afwijking behalve monosomie 7 of del(7q). Beenmerg is doorgaans hypercellulair met erytroïde hypoplasie en verhoogd aantal megakaryocyten, die niet-gelobde en hypo-gelobde nuclei vertonen. Myeloblasten vertegenwoordigen minder dan 5% van de kernhoudende cellen van beenmerg en minder dan 1% van de leukocyten in perifeer bloed. Auer-staafjes azijn afwezig Ringsideroblasten worden mogelijk waargenomen. Patiënten presenteren zich met anemie en vaak trombocytose, terwijl trombocytopenie of pancytopenie maar weinig voorkomen. Transformatie naar acute myeloïde leukemie kan voorkomen bij een klein aantal patiënten."},"pt":{"name":"Síndrome mielodisplásico associado a anomalia cromossómica 5q isolada"},"pl":{"name":"Zespół mielodysplastyczny związany z delecją długiego ramienia chromosomu 5","synonyms":["Zespół 5q"]},"cs":{"name":"Myelodysplastický syndrom vázaný s izolovanou abnormalitou del(5q)","synonyms":["5q- syndrom"]},"uk":{"name":"Мієлодиспластичний синдром, асоційований з ізольованою аномалією хромосоми del(5q)","synonyms":["5q-синдром"],"definition":"A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients."},"zh":{"name":"骨髓增生异常综合征伴孤立型5号染色体长臂异常","synonyms":["5q综合征"]},"tr":{"name":"İzole del (5q) kromozom anomalisi-ilişkili miyelodisplastik sendrom","synonyms":["5q- sendromu"]}},"xrefs":[{"source":"OMIM","code":"153550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D46.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A36","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"420472577"},{"source":"MONDO","code":"0007925","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1292779","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8723","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067096","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":[],"genes":[{"symbol":"RPS14","name":"ribosomal protein S14","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22571696[PMID]","hgnc":"10387","ensembl":"ENSG00000164587","omim":"130620","loci":["5q33.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"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":"28631666[PMID]_20733155[PMID]_26075044[PMID]_20658591[PMID]_26001289[PMID]","terms":[{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001877","label":"Abnormal erythrocyte morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012143","label":"Abnormal megakaryocyte morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012133","label":"Erythroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031385","label":"Megakaryocyte nucleus hypolobulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012129","label":"Abnormality of bone marrow stromal cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011992","label":"Abnormality of neutrophil morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011273","label":"Anisocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012148","label":"Multiple lineage myelodysplasia","frequency":"Occasional (29-5%)","criteria":null}]}}