{"orpha":284343,"name":"DICER1 tumor-predisposition syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPB familial tumor and dysplasia syndrome","PPBFTDS","Pleuropulmonary blastoma familial tumor and dysplasia syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-284343/","orphanet_url":"https://www.orpha.net/en/disease/detail/284343","names":{"fr":{"name":"Syndrome DICER1 de prédisposition aux tumeurs","synonyms":["PPBFTDS","Syndrome du blastome pleuropulmonaire de susceptibilité familiale aux tumeurs et dysplasies"]},"de":{"name":"DICER1-Tumorprädispositionssyndrom","synonyms":["DICER1-Syndrom","DICER1-assoziiertes Tumorsyndrom","PPB-Tumor-Syndrom, familiäres","PPBFTDS","Prädisposition für die familiäre Form des Pleuropulmonalen Blastom-Syndroms"]},"es":{"name":"Síndrome de predisposición tumoral familiar al blastoma pleuropulmonar","synonyms":["PPBFTDS","Síndrome DICER1","Síndrome de predisposición tumoral familar al BPP"]},"it":{"name":"Sindrome DICER1 da predisposizione ai tumori","synonyms":["PPBFTDS","Sindrome da BPP familiare e displasia","Sindrome da blastoma pleuro-polmonare familiare e displasia"]},"nl":{"name":"DICER1-tumorpredispositiesyndroom","synonyms":["PPB familiale tumor en dysplasie-syndroom","PPBFTDS","Pleuropulmonaal blastoom familiale tumor en dysplasie-syndroom"]},"pt":{"name":"Síndrome de predisposição tumoral DICER1","synonyms":["PPBFTDS","Síndrome de displasia e blastoma pleuropulmonar familiar","Síndrome de displasia e tumor familiar PPB"]},"pl":{"name":"Rodzinny zespół podatności na blastoma opłucnej i płuc","synonyms":["PPBFTDS","Rodzinny zespół podatności na pleuropulmonary blastoma","Rodzinny zespół podatności na PPB","Zespół DICER1","Zespół predyspozycji do nowotworów związany z DICER1"]},"cs":{"name":"Syndrom predispozice k nádorům z rodiny pleuropulmonálních blastomů","synonyms":["Syndrom DICER1","PPBFTDS","Syndrom predispozice k nádorům z rodiny PPB","Syndrom predispozice k nádorům z rodiny pleuro-pulmonálních blastomů"]},"uk":{"name":"Синдром схильності до пухлин DICER1","synonyms":["Сімейна пухлина та синдром дисплазії плевропульмональної бластоми","Синдром сімейної пухлини та дисплазії PPB","PPBFTDS"]},"zh":{"name":"胸肺母细胞瘤家族性肿瘤易感综合征","synonyms":["PPB家族性肿瘤易感综合征"]},"tr":{"name":"Plöropulmoner blastom ailesel tümör duyarlılık sendromu","synonyms":["Pleuro-pulmoner blastom ailesel tümör duyarlılık sendromu","PPBFTDS","DICER1 sendromu","PPB ailesel tümör duyarlılık sendromu"]}},"xrefs":[{"source":"OMIM","code":"601200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C34.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0100216","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3839822","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10734","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]},{"orpha":64742,"name":"Pleuropulmonary blastoma","classifications":[184,202]}],"children":[],"genes":[{"symbol":"DICER1","name":"dicer 1, ribonuclease III","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21266384[PMID]_24761742[PMID]","hgnc":"17098","ensembl":"ENSG00000100697","omim":"606241","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.007,"area":"Worldwide","status":"Not yet validated","source":"22796286[PMID]"}],"phenotypes":null}