{"orpha":420611,"name":"Transient myeloproliferative syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Transient myeloproliferative disease","TMD","Transient abnormal myelopoiesis"],"definition":"A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420611/","orphanet_url":"https://www.orpha.net/en/disease/detail/420611","names":{"fr":{"name":"Syndrome myéloprolifératif transitoire","synonyms":["MMT","Maladie myéloproliférative transitoire","Myélopoïèse transitoire anormale","TMD"],"definition":"Maladie hématologique rare caractérisée par des signes cliniques et morphologiques qu'il est difficile de discerner de ceux de la leucémie myéloïde aiguë, survenant généralement chez les nouveau-nés atteints du syndrome de Down. Les blastes du sang périphérique et de la moelle osseuse présentent des caractéristiques évocatrices de mégacaryoblastes. Outre la trisomie 21, des mutations acquises de GATA1 sont présentes dans les cellules blastiques. Les patients peuvent être asymptomatiques ou présenter une thrombocytopénie, plus rarement d'autres cytopénies, une leucocytose, une hépatosplénomégalie, un ictère, une ascite, une détresse respiratoire, des saignements et des épanchements péricardiques ou pleuraux. La plupart des patients connaissent une rémission spontanée dans les trois premiers mois de vie, mais certains connaissent des complications hépatiques, rénales ou cardiaques potentiellement létales."},"de":{"name":"Transientes myeloproliferatives Syndrom","synonyms":["TMD","Transiente abnormale Myelopoese","Transiente myeloproliferative Krankheit"],"definition":"Eine seltene hämatologische Erkrankung, die durch klinische und morphologische Befunde gekennzeichnet ist, die nicht von denen einer akuten myeloischen Leukämie zu unterscheiden sind, und die typischerweise bei Neugeborenen mit Down-Syndrom auftritt. Die Blasten im peripheren Blut und im Knochenmark weisen Merkmale auf, die auf Megakaryoblasten hindeuten. Zusätzlich zur Trisomie 21 finden sich in den Blastenzellen erworbene GATA1-Mutationen. Die Patienten können asymptomatisch sein oder mit Thrombozytopenie, seltener mit anderen Zytopenien, Leukozytose, Hepatosplenomegalie, Gelbsucht, Aszites, Atemnot, Blutungen und Perikard- oder Pleuraergüssen auftreten. Bei den meisten Patienten kommt es innerhalb der ersten drei Lebensmonate zu einer Spontanremission, obwohl einige von ihnen lebensbedrohliche hepatische, renale oder kardiale Komplikationen entwickeln können."},"es":{"name":"Síndrome mieloproliferativo transitorio","synonyms":["Enfermedad mieloproliferativa transitoria","Mielopoyesis anómala transitoria","SMT"],"definition":"Es una enfermedad hematológica poco frecuente caracterizada por hallazgos clínicos y morfológicos indistinguibles de los de la leucemia mieloide aguda, que ocurre típicamente en recién nacidos con síndrome de Down. Los blastocitos de sangre periférica y médula ósea muestran características sugerentes de megacarioblastos. Además de la trisomía 21, las mutaciones adquiridas del gen <i>GATA1</i> están presentes en las células blásticas. Los pacientes pueden ser asintomáticos o presentar trombocitopenia y. con menor frecuencia, otras citopenias, leucocitosis, hepatoesplenomegalia, ictericia, ascitis, dificultad respiratoria, hemorragia y derrames pericárdicos o pleurales. La mayoría de los pacientes experimenta una remisión espontánea dentro de los primeros tres meses de vida, aunque algunos pueden desarrollar complicaciones hepáticas, renales o cardíacas potencialmente mortales."},"it":{"name":"Sindrome mieloproliferativa transitoria","synonyms":["Malattia mieloproliferativa transitoria","Mielopoiesi anomala transitoria","TMD"],"definition":"Si tratta di una malattia ematologica rara, con caratteristiche cliniche e morfologiche non distinguibili da quelle della leucemia mieloide acuta. In genere la malattia colpisce i neonati con sindrome di Down. I blasti del sangue periferico e del midollo osseo presentano caratteristiche che ricordano i megacarioblasti. Oltre alla trisomia 21, nei blasti sono presenti mutazioni acquisite di GATA1. I pazienti possono essere asintomatici o presentare trombocitopenia e, più raramente, altre citopenie, leucocitosi, epatosplenomegalia, ittero, ascite, distress respiratorio, emorragie e versamenti pericardici o pleurici. La maggior parte dei pazienti va incontro ad una remissione spontanea nei primi tre mesi di vita, mentre alcuni sviluppano complicanze epatiche, renali o cardiache potenzialmente letali."},"nl":{"name":"Voorbijgaand myeloproliferatief syndroom","synonyms":["TMD","Voorbijgaande abnormale myelopoëse","Voorbijgaande myeloproliferatieve ziekte"],"definition":"Een zeldzame hematologische aandoening, gekarakteriseerd door klinische en morfologische bevindingen die niet onderscheiden kunnen worden van die van acute myeloïde leukemie, en doorgaans optredend bij neonaten met syndroom van Down. Blastcellen in perifeer bloed en beenmerg vertonen kenmerken die doen denken aan megakaryoblasten. Bovenop trisomie 21 zijn ook verworven <i>GATA1</i>-mutaties aanwezig in blastcellen. Patiënten kunnen asymptomatisch zijn, of zich presenteren met trombocytopenie, minder vaak andere cytopenieën, leukocytose, hepatosplenomegalie, geelzucht, ascites, ademnood, bloeding, en pericardiale of pleurale effusie. De meeste patiënten ondergaan spontane remissie binnen de eerste drie levensmaanden, maar sommigen kunnen levensbedreigende hepatische, renale, of cardiale complicaties ontwikkelen."},"pt":{"name":"Síndrome meloproliferativo transitório"},"pl":{"name":"Przejściowy zespół mieloproliferacyjny","synonyms":["Przejściowa choroba mieloproliferacyjna","Przejściowa nieprawidłowa mielopoeza","TMD"]},"cs":{"name":"Tranzientní myeloproliferativní syndrom","synonyms":["TMD","Tranzientní abnormální myelopoéza","Tranzientní myeloproliferativní choroba"]},"uk":{"name":"Транзиторний мієлопроліферативний синдром","synonyms":["TMD","Транзиторний аномальний мієлопоез","Транзиторна мієлопроліферативна хвороба"],"definition":"A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications."},"zh":{"name":"一过性骨髓增生综合征","synonyms":["一过性骨髓增生性疾病"]},"tr":{"name":"Geçici miyeloproliferatif sendrom","synonyms":["TMD","Geçici anormal miyelopoezis","Geçici miyeloproliferatif hastalık"]}},"xrefs":[{"source":"OMIM","code":"159595","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D47.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"300747644"},{"source":"MONDO","code":"0008040","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563551","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834582","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12765","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98274,"name":"Myeloproliferative neoplasm","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"GATA1","name":"GATA binding protein 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"14636651[PMID]","hgnc":"4170","ensembl":"ENSG00000102145","omim":"305371","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}