{"orpha":488647,"name":"DDX41-related hematologic malignancy predisposition syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488647/","orphanet_url":"https://www.orpha.net/en/disease/detail/488647","names":{"fr":{"name":"Syndrome de prédisposition aux cancers hématologiques associé à DDX41","definition":"Syndrome héréditaire rare prédisposant au cancer, caractérisé par l'apparition à l'âge adulte d'hémopathies malignes affectant principalement la lignée myéloïde (comme le syndrome myélodysplasique et/ou la leucémie myéloïde aiguë), et moins souvent d'hémopathies malignes lymphoïdes. On a rapporté chez certains patients le développement de troubles granulomateux ou immunitaires (y compris la sarcoïdose, le lupus érythémateux systémique, l'asthme, l'eczéma ou l'arthrite juvénile) avant ou en l'absence d'hémopathies malignes."},"de":{"name":"Tumorprädispositionssyndrom, DDX41-assoziiertes","synonyms":["DDX41-assoziiertes familiäres myelodysplastisches Syndrom und akute myeloische Leukämie"],"definition":"Ein hereditäres Krebsprädisposition-Syndrom, das durch das Auftreten von hämatologischen Malignomen im Erwachsenenalter gekennzeichnet ist, die hauptsächlich die myeloische Abstammung betreffen (z. B. myelodysplastisches Syndrom und/oder akute myeloische Leukämie), seltener auch lymphoide Malignome. Bei einigen Patienten wurden granulomatöse oder immunologische Erkrankungen (einschließlich Sarkoidose, systemischer Lupus erythematodes, Asthma, Ekzeme oder juvenile Arthritis) vor oder in Abwesenheit von hämatologischen Malignomen festgestellt."},"es":{"name":"Síndrome de predisposición al cáncer hematológico asociado a DDX41","definition":"Es un síndrome de predisposición al cáncer, hereditario y poco frecuente, caracterizado por el inicio en la edad adulta de neoplasias hematológicas malignas, que afectan principalmente a la línea mieloide (tales como el síndrome mielodisplásico y/o la leucemia mieloide aguda), y con menor frecuencia neoplasias linfoides malignas. Se ha descrito que algunos pacientes desarrollan trastornos granulomatosos o inmunes (incluyendo sarcoidosis, lupus eritematoso sistémico, asma, eccema o artritis juvenil) previamente o en ausencia de las neoplasias hematológicas malignas."},"it":{"name":"Sindrome predisposizione ai tumori ematologici maligni correlata a DDX41","definition":"Si tratta di una malattia ereditaria rara che predispone allo sviluppo dei tumori, caratterizzata da tumori ematologici maligni ad esordio nell'età adulta, che interessano per lo più la linea mieloide (ad es. la sindrome mielodisplastica e/o la leucemia mieloide acuta) e, più raramente, da tumori linfoidi maligni. Alcuni pazienti sviluppano granulomi o malattie del sistema immunitario (sarcoidosi, lupus eritematoso sistemico, asma, eczema o artrite giovanile) prima dell'esordio dei tumori ematologici maligni o in loro assenza."},"nl":{"name":"DDX41-gerelateerd hematologische maligniteit-predispositiesyndroom","definition":"Een zeldzaam hereditair kankerpredispositiesyndroom, gekarakteriseerd door aanvang in de volwassenheid van hematologische maligniteiten die voornamelijk myeloïde cellijn treft (zoals myelodysplastisch syndroom en/of acute myeloïde leukemie), en minder vaak lymfoïde maligniteiten. Er werden enkele patiënten gerapporteerd die granulomateuze aandoeningen of immuunstoornissen ontwikkelden (waaronder sarcoïdose, systemische lupus erythematosus, astma, eczeem, of juveniele artritis) voor of in afwezigheid van hematologische maligniteiten."},"pt":{"name":"Síndrome de predisposição para malignidade hematológica DDX41-relacionada"},"pl":{"name":"Zespół predyspozycji do nowotworów hematologicznych związany z DDX41"},"cs":{"name":"Syndrom DDX41-vázané predispozice k hematologickým malignitám"},"uk":{"name":"Синдром схильності до гематологічних злоякісних новоутворень, повязаних з DDX41","definition":"A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies."},"zh":{"name":"DDX41相关的血液恶性肿瘤易感综合征"},"tr":{"name":"DDX41 -ilişkili hematolojik habis yatkınlık sendromu"}},"xrefs":[{"source":"OMIM","code":"616871","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C96.7","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0014809","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":619340,"name":"Inherited hematologic cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"DDX41","name":"DEAD-box helicase 41","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26712909[PMID]_25920683[PMID]","hgnc":"18674","ensembl":"ENSG00000183258","omim":"608170","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26712909[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26712909[PMID]"}],"phenotypes":null}