{"orpha":86830,"name":"Chronic myeloproliferative disease, unclassifiable","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMPD-U","Undifferentiated myeloproliferative disease"],"definition":"A rare hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86830/","orphanet_url":"https://www.orpha.net/en/disease/detail/86830","names":{"fr":{"name":"Maladie myéloproliférative chronique non classifiée","synonyms":["Maladie myéloproliférative non différenciée"],"definition":"Hémopathie maligne caractérisée par une prolifération clonale de précurseurs myéloïdes dans la moelle osseuse, le sang et d'autres tissus (rate, foie), présentant les caractéristiques cliniques, morphologiques et moléculaires des néoplasies myéloprolifératives (NMP) mais ne répondant pas aux critères d'une NMP spécifique. Inconstant et non spécifique, le tableau clinique comprend souvent une leucocytose, une thrombocytose et une anémie. Une splénomégalie, une hépatomégalie ainsi qu'une fatigue, un malaise ou une perte de poids peuvent apparaître à un stade avancé."},"de":{"name":"Myeloproliferative Krankheit, nicht klassifizierbare","synonyms":["CMPD-U","Myeloproliferative Krankheit, undifferenzierte"],"definition":"Eine seltene hämatologische Neoplasie, die durch eine klonale Proliferation von myeloischen Vorstufen im Knochenmark, Blut und anderen Geweben (Milz, Leber) gekennzeichnet ist und klinische, morphologische und molekulare Merkmale von myeloproliferativen Neoplasien (MPN) aufweist, ohne die Kriterien einer spezifischen MPN zu erfüllen. Das Erscheinungsbild ist unspezifisch und variabel und umfasst häufig Leukozytose, Thrombozytose und Anämie. In fortgeschrittenen Stadien können Splenomegalie, Hepatomegalie sowie Müdigkeit, Unwohlsein oder Gewichtsverlust auftreten."},"es":{"name":"Enfermedad mieloproliferativa crónica inclasificable","synonyms":["CMPD-U","Enfermedad mieloproliferativa indiferenciada"],"definition":"Es una neoplasia hematológica poco frecuente caracterizada por la proliferación clonal de precursores mieloides en médula ósea, sangre y otros tejidos (bazo, hígado), con características clínicas, morfológicas y moleculares de neoplasias mieloproliferativas (NMP) y que no cumple con los criterios de una NMP específica. La presentación es inespecífica y variable e incluye, con frecuencia, leucocitosis, trombocitosis y anemia. En etapas avanzadas pueden presentar espleno- y hepatomegalia, así como fatiga, malestar o pérdida de peso."},"it":{"name":"Malattia mieloproliferativa cronica non classificabile","synonyms":["CMPD-U","Malattia mieloproliferativa indifferenziata"],"definition":"La malattia mieloproliferativa cronica non classificabile è una neoplasia ematologica caratterizzata dalla proliferazione clonale dei precursori mieloidi nel midollo osseo, nel sangue e in altri tessuti (milza, fegato), con segni clinici, morfologici e molecolari caratteristici delle neoplasie mieloproliferative (NMP), che non rispondono ai criteri di una NMP specifica. Il quadro clinico è aspecifico e variabile, e spesso comprende la leucocitosi, la trombocitosi e l'anemia. Negli stadi più avanzati, possono insorgere splenomegalia, epatomegalia, affaticamento, malessere o perdita di peso."},"nl":{"name":"Chronische myeloproliferatieve ziekte, niet-classificeerbaar","synonyms":["CMPD-U","Ongedifferentieerde myeloproliferatieve ziekte"],"definition":"Een zeldzaam hematologisch neoplasma, gekenmerkt door klonale proliferatie van myeloïde precursorcellen in beenmerg, bloed en andere weefsels (milt, lever), met klinische, morfologische en moleculaire kenmerken van myeloproliferatieve neoplasmata (MPN), zonder te voldoen aan de criteria van een specifiek MPN. De presentatie is aspecifiek en variabel, en omvat vaak leukocytose, trombocytose en anemie. Splenomegalie, hepatomegalie alsook vermoeidheid, malaise of gewichtsverlies kunnen optreden in de gevorderde stadia."},"pt":{"name":"Doença mieloproliferativa crónica, não classificável","synonyms":["CMPD-U","Doença mieloproliferativa indiferenciada"],"definition":"Neoplasia hematológica rara caracterizada pela proliferação clonal de precursores mielóides na medula óssea, sangue e outros tecidos (baço, fígado), com características clínicas, morfológicas e moleculares de neoplasias mieloproliferativas (NMP), não cumprindo os critérios de uma NMP específica. A apresentação é inespecífica e variável e inclui frequentemente leucocitose, trombocitose e anemia. Esplenomegalia, hepatomegalia, bem como fadiga, mal-estar ou perda de peso podem surgir em fases avançadas."},"pl":{"name":"Przewlekła choroba mieloproliferacyjna, niesklasykiwona","synonyms":["CMPD-U","Niezróżnicowana choroba mieloproliferacyjna"],"definition":"Rzadki nowotwór hematologiczny charakteryzujący się klonalną proliferacją komórek prekursorowych linii mieloidalnej w szpiku kostnym, krwi i innych tkankach (śledzionie, wątrobie), posiadający cechy kliniczne, morfologiczne i molekularne nowotworów mieloproliferacyjnych (MPN), niespełniający kryteriów specyficznego MPN. Objawy choroby są niespecyficzne i zmienne i często obejmują leukocytozę, trombocytozę i niedokrwistość. W zaawansowanych stadiach może wystąpić powiększenie śledziony, hepatomegalia, a także zmęczenie, złe samopoczucie lub utrata masy ciała."},"cs":{"name":"Neklasifikované chronické myeloproliferativní onemocnění","synonyms":["CMPD-U","Nediferencované myeloproliferativní onemocnění"]},"uk":{"name":"Хронічне мієлопроліферативне захворювання, не класифіковане","synonyms":["CMPD-U","Недиференційоване мієлопроліферативне захворювання"],"definition":"A rare hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features ofmyeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages."},"zh":{"name":"未分型慢性骨髓增殖性疾病","synonyms":["未分化型骨髓增生性疾病"]},"tr":{"name":"Kronik miyeloproliferatif hastalık, sınıflandırılmamış","synonyms":["CMPD-U","Farklılaşmamış miyeloproliferatif hastalık"]}},"xrefs":[{"source":"OMIM","code":"131440","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D47.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A22","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019452","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19452","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4757947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98274,"name":"Myeloproliferative neoplasm","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"PDGFRB","name":"platelet derived growth factor receptor beta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"17296564[PMID]","hgnc":"8804","ensembl":"ENSG00000113721","omim":"173410","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.53,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}