{"orpha":314399,"name":"Autosomal dominant aplasia and myelodysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant aplastic anemia and myelodysplasia"],"definition":"A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314399/","orphanet_url":"https://www.orpha.net/en/disease/detail/314399","names":{"fr":{"name":"Aplasie et myélodysplasie autosomiques dominantes","synonyms":["Anémie aplasique et myélodysplasie autosomiques dominantes"],"definition":"Maladie hématologique rare d'origine génétique, caractérisée par une insuffisance médullaire se manifestant par une anémie aplasique et/ou une myélodysplasie, associée à des troubles auditifs/anomalies des oreilles (surdité, labyrinthite) et se transmettant sur le mode autosomique dominant."},"de":{"name":"Autosomal-dominante Aplasie und Myelodysplasie"},"es":{"name":"Aplasia y mielodisplasia autosómica dominante","synonyms":["Anemia aplásica y mielodisplasia autosómicas dominantes"],"definition":"Es un trastorno genético hematológico poco frecuente, caracterizado por fallo de la médula ósea que se manifiesta con anemia aplásica y/o mielodisplasia, asociada con anomalías de la audición / del oído (tales como sordera y laberintitis). ."},"it":{"name":"Aplasia e mielodisplasia autosomiche dominanti","synonyms":["Anemia aplastica e mielodisplasia autosomiche dominanti"],"definition":"L'aplasia associata a mielodisplasia autosomica dominante è una malattia ematologica genetica rara, caratterizzata da insufficienza del midollo osseo, che esordisce con anemia aplastica e/o mielodisplasia, alterazioni dell'udito/orecchio (sordità, labirintite). La trasmissione è autosomica dominante."},"nl":{"name":"Autosomaal dominante aplasie en myelodysplasie","synonyms":["Autosomaal dominante aplastische anemie en myelodysplasie"],"definition":"Een zeldzame, genetische, hematologische stoornis, gekarakteriseerd door beenmergfalen dat zich manifesteert met aplastische anemie en/of myelodysplasie, geassocieerd met gehoor-/ooranomalieën (zoals doofheid, labyrintitis). De ziekte wordt op een autosomaal dominante manier overgeërfd."},"pt":{"name":"Aplasia autossómica dominante e mielodisplasia","synonyms":["Anemia aplásica e mielodisplasia autossómica dominante"]},"pl":{"name":"Autosomalna dominująca aplazja i mielodysplazja","synonyms":["Autosomalna dominująca niedokrwistość aplastyczna i mielodysplazja"],"definition":"*Autosomalna dominująca aplazja i mielodysplazja to rzadkie, genetycznie uwarunkowane zaburzenie hematologiczne, które charakteryzuje się niewydolnością szpiku kostnego. Objawia się niedokrwistością aplastyczną i/lub mielodysplazją, której towarzyszą nieprawidłowości słuchu/uszu (niedosłuch, zapalenie błędnika). Dziedziczy się w sposób autosomalny dominujący."},"cs":{"name":"Autozomálně dominantní aplázie kostní dřeně a myelodysplázie","synonyms":["Autozomálně dominantní aplázie a myelodysplázie"]},"uk":{"name":"Аутосомно-домінантна аплазія та мієлодисплазія","synonyms":["Аутосомно-домінантна апластична анемія та мієлодисплазія"],"definition":"A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner."},"zh":{"name":"常染色体显性遗传骨髓发育不全和增生异常","synonyms":["常染色体显性遗传再生障碍性贫血和骨髓增生异常"],"definition":"一种罕见的遗传性血液病，以骨髓衰竭为特征，表现为再生障碍性贫血和/或骨髓发育不良，伴有听力/耳朵异常（如耳聋、迷路炎），以常染色体显性遗传。"},"tr":{"name":"Otozomal dominant aplazi ve miyelodisplazi","synonyms":["Otozomal dominant aplastik anemi ve miyelodisplazi"]}},"xrefs":[{"source":"OMIM","code":"614675","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A70.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013851","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755259","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"orpha":68383,"name":"Rare constitutional aplastic anemia","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"SRP72","name":"signal recognition particle 72","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22541560[PMID]","hgnc":"11303","ensembl":"ENSG00000174780","omim":"602122","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"22541560[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22541560[PMID]"}],"phenotypes":null}