{"orpha":319465,"name":"Inherited acute myeloid leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial AML","Inherited AML","Pure familial AML","Pure familial acute myeloid leukemia"],"definition":"Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319465/","orphanet_url":"https://www.orpha.net/en/disease/detail/319465","names":{"fr":{"name":"Leucémie aiguë myéloïde héréditaire","synonyms":["AML familiale","AML héréditaire","LAM familiale","LAM héréditaire","Leucémie aiguë myéloblastique familiale","Leucémie aiguë myéloblastique héréditaire","Leucémie aiguë myéloïde familiale"],"definition":"Une maladie hématologique maligne rare caractérisée par la prolifération clonale de blastes myéloïdes impliquant surtout la moelle osseuse, associée à des troubles congénitaux (comme une anémie de Fanconi, une dyskératose congénitale, un syndrome de Bloom, une trisomie 21, une neutropénie congénitale, une neurofibromatose...) et des anomalies génétiques prédisposant à la leucémie aigüe myéloïde. Les patients présentent des signes et des symptômes associés à une hématopoïèse inefficace (fatigue, saignement et formation d'ecchymoses, infections récurrentes, douleur osseuse) et/ou une atteinte extra-médullaire (gingivite, splénomégalie...). Des risques additionnels de cancer et d'autres troubles de santé peuvent être présents, en fonction de l'anomalie génétique sous-jacente."},"de":{"name":"Akute myeloische Leukämie, vererbte","synonyms":["AML, familiäre","AML, familiäre reine","AML, vererbte","Reine familiäre akute myeloische Leukämie"],"definition":"Die vererbte akute myeloische Leukämie (AML) ist eine seltene, bösartige hämatopologische Erkrankung, die durch klonale Proliferation myeloischer Blasten gekennzeichnet ist, die hauptsächlich das Knochenmark betrifft und mit angeborenen Störungen (z. B. Fanconi-Anämie, Dyskeratosis congenita, Bloom-Syndrom, Down-Syndrom, kongenitale Neutropenie, Neurofibromatose usw.) und genetischen Defekten einhergeht, die für AML prädisponieren. Die Patienten präsentieren sich mit Anzeichen und Symptomen im Zusammenhang mit einer ineffektiven Hämatopoese (Müdigkeit, Blutungen und Blutergüsse, rezidivierende Infektionen, Knochenschmerzen) und/oder einer Beteiligung extramedullärer Areale (Gingivitis, Splenomegalie usw.). Je nach zugrundeliegendem Gendefekt können zusätzliche Krebsrisiken und andere gesundheitliche Probleme vorhanden sein."},"es":{"name":"Leucemia mieloide aguda hereditaria","synonyms":["Leucemia mieloide aguda familiar pura","MLA familiar","MLA familiar pura","MLA hereditaria"],"definition":"Es una enfermedad hematológica poco frecuente y maligna caracterizada por la proliferación clonal de blastos mieloides, que afecta principalmente a la médula ósea, en asociación con trastornos congénitos (p. ej., anemia de Fanconi, disqueratosis congénita, síndrome de Bloom, síndrome de Down, neutropenia congénita, neurofibromatosis, etc.) y defectos genéticos que predisponen a la LMA. Los pacientes presentan signos y síntomas relacionados con hematopoyesis ineficaz (fatiga, sangrado y hematomas, infecciones recurrentes, dolor óseo) y/o afectación extramedular (gingivitis, esplenomegalia, etc.). Dependiendo del defecto genético subyacente, pueden presentar otros riesgos de cáncer y otros problemas de salud."},"it":{"name":"Leucemia mieloide acuta ereditaria","synonyms":["AML ereditaria","AML familiare","AML familiare pura","Leucemia mieloide acuta familiare pura"],"definition":"La leucemia mieloide acuta ereditaria (AML) è una malattia ematologica maligna rara, caratterizzata dalla proliferazione clonale di mieloblasti, che interessa soprattutto il midollo osseo, associata a malattie congenite (anemia di Fanconi, discheratosi congenita, sindrome di Bloom, sindrome di Down, neutropenia congenita, neurofibromatosi, ed altre) e a difetti genetici predisponenti. I pazienti presentano segni clinici e sintomi secondari ad ematopoiesi inefficace (affaticamento, emorragie ed ecchimosi, infezioni ricorrenti, dolore osseo) e/o a coinvolgimento extramidollare (gengivite, splenomegalia, ecc.). A seconda del difetto genetico alla base della malattia, i pazienti possono presentare un aumento del rischio oncologico o altri problemi di salute."},"nl":{"name":"Erfelijke acute myeloïde leukemie","synonyms":["Erfelijke AML","Familiale AML","Zuivere familiale AML","Zuivere familiale acute myeloïde leukemie"],"definition":"Overgeërfde acute myeloïde leukemie (AML) is een zeldzame, kwaadaardige hematologische ziekte die gekarakteriseerd wordt door klonale proliferatie van myeloïde blastcellen, voornamelijk in het beenmerg, geassocieerd met congenitale stoornissen (e.g. anemie van Fanconi, dyskeratosis congenita, syndroom van Bloom, syndroom van Down, congenitale neutropenie, neurofibromatose, etc.) en genetische defecten die de vatbaarheid voor AML verhogen. Patiënten vertonen tekenen en symptomen gerelateerd aan ineffectieve hematopoëse (vermoeidheid, bloeding en kneuzing, terugkerende infecties, botpijn) en/of betrokkenheid van extramedullaire plaatsen (gingivitis, splenomegalie, etc.). Afhankelijk van het onderliggend genetisch defect, zijn er mogelijk bijkomende risico's op kanker en andere gezondheidsproblemen aanwezig."},"pt":{"name":"Leucemia mielóide aguda hereditária"},"pl":{"name":"Dziedziczna ostra białaczka szpikowa","synonyms":["Czysta rodzinna AML","Czysta rodzinna ostra białaczka szpikowa","Dziedziczna AML","Rodzinna AML"]},"cs":{"name":"Vrozená akutní myeloidní leukémie","synonyms":["Familiární AML","Vrozená AML","Čistá familiární AML","Čistá familiární akutní myeloidní leukémie"]},"uk":{"name":"Спадкова гостра мієлоїдна лейкемія","synonyms":["Сімейний ГМЛ","Успадкований ГМЛ","Чистий сімейний гострий мієлоїдний лейкоз","Чистий сімейний ГМЛ"],"definition":"Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present."},"zh":{"name":"遗传性急性髓系白血病","synonyms":["单纯性家族性急性髓系白血病"],"definition":"遗传性急性髓系白血病(AML)是一种罕见的恶性血液系统疾病，其特征是成髓细胞克隆性增殖，主要涉及骨髓，伴有先天性疾病(如范科尼贫血、先天性角化不良、Bloom综合征、唐氏综合征、先天性中性粒细胞减少症、神经纤维瘤病等)相关。)和易患AML的遗传缺陷。患者出现与无效造血(疲劳、出血和瘀伤、反复感染、骨痛)和/或髓外受累(牙龈炎、脾肿大等)相关的体征和症状。根据潜在的基因缺陷，可能存在额外的癌症风险和其他健康问题。"},"tr":{"name":"Kalıtsal akut miyeloid lösemi","synonyms":["Ailesel AML","Kalıtsal AML","Saf ailesel AML","Saf ailesel akut miyeloid lösemi"]}},"xrefs":[{"source":"OMIM","code":"601626","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C92.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017893","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707228","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":519,"name":"Acute myeloid leukemia","classifications":[194,202,233]},{"orpha":322126,"name":"Genetic tumor of hematopoietic and lymphoid tissues","classifications":[156]},{"orpha":619340,"name":"Inherited hematologic cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"CEBPA","name":"CCAAT enhancer binding protein alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22649106[PMID]","hgnc":"1833","ensembl":"ENSG00000245848","omim":"116897","loci":["19q13.11"]},{"symbol":"ERCC6L2","name":"ERCC excision repair 6 like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30936069[PMID]","hgnc":"26922","ensembl":"ENSG00000182150","omim":"615667","loci":["9q22.32"]},{"symbol":"TGM6","name":"transglutaminase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24755948[PMID]","hgnc":"16255","ensembl":"ENSG00000166948","omim":"613900","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}