{"orpha":71290,"name":"Familial platelet disorder with associated myeloid malignancy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FPD/AML","FPDMM","FPS/AML","Familial platelet disorder with predisposition to acute myelogenous leukemia","Familial platelet disorder with predisposition to myeloid malignancy","Familial platelet disorder with propensity to acute myeloid leukemia","Familial thrombocytopenia with propensity to acute myelogenous leukemia","RUNX1 familial platelet disorder","RUNX1 familial platelet disorder with associated myeloid malignancies","RUNX1-FPD","RUNX1-FPDMM"],"definition":"A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71290/","orphanet_url":"https://www.orpha.net/en/disease/detail/71290","names":{"fr":{"name":"Thrombopénie familiale avec prédisposition à la leucémie aigüe myéloïde","synonyms":["Anomalies plaquettaires familiales avec prédisposition aux leucémies aigües myéloïdes","Anomalies plaquettaires familiales avec prédisposition aux leucémies aigües myéloïdes dû à RUNX1","FPD/AML","FPDMM","FPS/AML","Thrombopénie familiale avec prédisposition à la LAM"],"definition":"Thrombocytopénie constitutionnelle rare d'origine génétique, caractérisée par une thrombocytopénie légère à modérée, une fonction plaquettaire anormale et une propension à développer des hémopathies malignes, principalement d'origine myéloïde."},"de":{"name":"Familiäre Blutplättchen-Störung mit assoziierter myeloischer Malignität","synonyms":["Familiäre Plättchenerkrankung mit Neigung zu myeloischen Neoplasien","Familiäre Thrombozytenfunktionsstörung mit Prädisposition zu myeloischer Malignität","Familiäre Thrombozytopenie mit Prädisposition für AML","RUNX1-FPD","RUNX1-FPDMM","RUNX1-assoziierte familiäre Blutplättchen-Störungen","RUNX1-assoziierte familiäre Thrombozytopenie","FPD/AML","FPDMM","FPS/AML"],"definition":"Eine seltene, genetisch bedingte, konstitutionelle Blutplättchen-Störung, die durch eine leichte bis mittelschwere Thrombozytopenie, eine abnorme Thrombozytenfunktion und eine Neigung zur Entwicklung hämatologischer Malignome, hauptsächlich myeloischen Ursprungs, gekennzeichnet ist."},"es":{"name":"Trastorno plaquetario familiar con neoplasia mieloide asociada","synonyms":["TPF/LMA","Trastorno plaquetario familiar RUNX1","Trastorno plaquetario familiar RUNX1 con neoplasias mieloides asociadas","Trastorno plaquetario familiar con predisposición a leucemia mielógena aguda","Trastorno plaquetario familiar con predisposición a neoplasia mieloide"],"definition":"Es una trombocitopenia constitucional, genética y poco frecuente, caracterizada por trombocitopenia de leve a moderada, alteración de la función plaquetaria y predisposición al desarrollo de neoplasias hematológicas malignas, principalmente de origen mieloide."},"it":{"name":"Malattia familiare delle piastrine associata al tumore mieloide","synonyms":["RUNX1-FPDMM","Malattia familiare delle piastrine con predisposizione alla leucemia mieloide acuta","Malattia familiare delle piastrine con predisposizione ai tumori mieloidi","Malattia familiare delle piastrine con tendenza alla leucemia mieloide acuta","Trombocitopenia familiare con predisposizione alla leucemia mieloide acuta","Malattia familiare delle piatrine correlata a RUNX1","Malattia familiare delle piastrine correlata a RUNX1 associata ai tumori mieloidi","RUNX1-FPD","Sindrome FPD/AML","Sindrome FPS/AML","FPDMM"],"definition":"È una trombocitopenia costituzionale genetica rara, caratterizzata da trombocitopenia lieve o moderata, anomalie della funzione piastrinica e predisposizione ai tumori ematologici maligni, in particolare di origine mieloide."},"nl":{"name":"Familiale bloedplaatjesstoornis met geassocieerde myeloïde maligniteit","synonyms":["Familiale trombocytopenie met aanleg voor acute myelogene leukemie","RUNX1 familiale bloedplaatjesstoornis","RUNX1 familiale bloedplaatjesstoornis met geassocieerde myeloïde maligniteiten","RUNX1-FPD","RUNX1-FPDMM","FPD/AML","FPDMM","FPS/AML","Familiale bloedplaatjesstoornis met aanleg voor acute myeloïde leukemie","Familiale bloedplaatjesstoornis met predispositie voor acute myelogene leukemie","Familiale bloedplaatjesstoornis met predispositie voor myeloïde maligniteit"],"definition":"Een zeldzame, genetische, constitutionele trombocytopenie gekarakteriseerd door milde tot matige trombocytopenie, abnormale functie van bloedplaatjes en een neiging om hematologische maligniteiten te ontwikkelen, voornamelijk van myeloïde oorsprong."},"pt":{"name":"Doença plaquetária familiar com malignidade mieloide associada","synonyms":["Doença plaquetária familiar RUNX1","Doença plaquetária familiar RUNX1 com malignidade mieloide associada","Doença plaquetária familiar com predisposição a leucemia mieloide aguda","Doença plaquetária familiar com predisposição malignidade mieloide","Doença plaquetária familiar com propensão a leucemia mielogénica aguda","FPD/AML","FPDMM","FPS/AML","RUNX1-FPD","RUNX1-FPDMM"]},"pl":{"name":"Zespół dziedzicznej małopłytkowości z prawidłowymi płytkami i predyspozycją do nowotworów krwi","synonyms":["Rodzinny zespół płytek z predyspozycją do ostrej białaczki szpikowej","Zespół FPD/AML","Zespół FPS/AML"]},"cs":{"name":"Familiární destičkový syndrom s predispozicí k akutní myeloidní leukémii","synonyms":["FDP/AML syndrom","FPS/AML syndrom","Familiární porucha destiček s asociovanou myeloidní malignitou","Familiární destičkový syndrom"]},"uk":{"name":"Сімейне захворювання тромбоцитів з асоційованою мієлоїдною злоякісністю","synonyms":["Сімейне захворювання тромбоцитів зі схильністю до гострої мієлогенної лейкемії","Сімейне захворювання тромбоцитів зі схильністю до мієлоїдної злоякісності","Сімейне захворювання тромбоцитів зі схильністю до гострої мієлоїдної лейкемії","Сімейна тромбоцитопенія зі схильністю до гострої мієлогенної лейкемії","FPD/AML","FPDMM","FPS/AML"],"definition":"A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin."},"zh":{"name":"家族性血小板疾病伴相关髓系恶性肿瘤","synonyms":["FPS/AML"]},"tr":{"name":"İlişkili miyeloid malignite ile seyreden ailesel trombosit bozukluğu","synonyms":["Miyeloid maligniteye yatkınlığı olan ailesel trombosit bozukluğu","Akut miyeloid lösemiye yatkın ailesel trombosit bozukluğu","Akut miyelojenöz lösemiye eğilim ile seyreden ailesel trombositopeni","Akut miyelojenöz lösemiye yatkınlık ile seyreden ailesel trombosit bozukluğu","FPDMM","FPD / AML","FPS / AML"]}},"xrefs":[{"source":"OMIM","code":"601399","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1358627656"},{"source":"MONDO","code":"0011071","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11071","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563324","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832388","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10352","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":477697,"name":"OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98456,"name":"Dense granule disease","classifications":[156,194]},{"orpha":619340,"name":"Inherited hematologic cancer-predisposing syndrome","classifications":[156,202]},{"orpha":477797,"name":"Isolated constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"RUNX1","name":"RUNX family transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30600763[PMID]","hgnc":"10471","ensembl":"ENSG00000159216","omim":"151385","loci":["21q22.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":259.0,"area":"Worldwide","status":"Validated","source":"39822584[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"39822584[PMID]_ORPHANET"}],"phenotypes":null}