{"orpha":661526,"name":"MBD4-related tumor predisposition syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-661526/","orphanet_url":"https://www.orpha.net/en/disease/detail/661526","names":{"fr":{"name":"Prédisposition au développement de tumeurs liée à MBD4"},"de":{"name":"MBD4-assoziiertes Tumorprädispositionssyndrom"},"es":{"name":"Síndrome de predisposición tumoral asociado al gen MBD4"},"it":{"name":"Sindrome da predisposizione ai tumori correlata a MBD4"},"nl":{"name":"MBD4-gerelateerd tumorpredispositiesyndroom"},"pt":{"name":"Síndrome de predisposição tumoral MBD4-relacionada"},"pl":{"name":"Zespół predyspozycji do nowotworów związany z MBD4"},"cs":{"name":"Syndrom nádorové predispozice související s MBD4"},"uk":{"name":"Синдром схильності до пухлин, повязаний з MBD4"}},"xrefs":[{"source":"OMIM","code":"619975","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C18.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859267","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859267","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925126","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"MBD4","name":"methyl-CpG binding domain 4, DNA glycosylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35460607[PMID]","hgnc":"6919","ensembl":"ENSG00000129071","omim":"603574","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"35460607[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30049810[PMID]_31322271[PMID]_35460607[PMID]_ORPHANET"}],"phenotypes":null}