{"orpha":725898,"name":"Bone marrow failure-diabetes mellitus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BMFDMS","BMF disorder due to DUT deficiency","Bone marrow failure disorder due to DUT deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-725898/","orphanet_url":"https://www.orpha.net/en/disease/detail/725898","names":{"fr":{"name":"Syndrome d'aplasie médullaire-diabète sucré","synonyms":["Aplasie médullaire par déficit en DUT"]},"de":{"name":"Knochenmarkversagen-Diabetes-mellitus-Syndrom","synonyms":["BMFDMS","Knochenmarkversagen-Syndrom durch DUT-Defizienz","BMFS durch DUT-Mangel"]},"es":{"name":"Síndrome de fallo medular-diabetes mellitus","synonyms":["Trastorno de fallo medular por deficiencia de DUT","Trastorno BMF por deficiencia de DUT"]},"it":{"name":"Sindrome insufficienza del midollo osseo-diabete mellito","synonyms":["BMF da deficit di DUT","Insufficienza del midollo osseo da deficit di DUT","BMFDMS"]},"nl":{"name":"Beenmergfalen - diabetes mellitus-syndroom","synonyms":["BMFDMS","BMF door DUT-deficiëntie","Beenmergfalen door DUT-deficiëntie"]},"pt":{"name":"Bone marrow failure-diabetes mellitus"},"pl":{"name":"Bone marrow failure-diabetes mellitus syndrome","synonyms":["BMFDMS","BMF disorder due to DUT deficiency","Bone marrow failure disorder due to DUT deficiency"]},"cs":{"name":"Bone marrow failure-diabetes mellitus syndrome","synonyms":["BMFDMS","BMF disorder due to DUT deficiency","Bone marrow failure disorder due to DUT deficiency"]}},"xrefs":[{"source":"OMIM","code":"620044","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]},{"orpha":101952,"name":"Rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]}],"children":[],"genes":[{"symbol":"DUT","name":"deoxyuridine triphosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28073829[PMID]_35611808[PMID]","hgnc":"3078","ensembl":"ENSG00000128951","omim":"601266","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}