{"orpha":357027,"name":"Hereditary retinoblastoma","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Retinoblastoma","url":"https://raremap.alftech.space/d/ORPHA-357027/","orphanet_url":"https://www.orpha.net/en/disease/detail/357027","names":{"fr":{"name":"Rétinoblastome héréditaire"},"de":{"name":"Retinoblastom, familiäres","synonyms":["Retinoblastom, bilaterales","Retinoblastom, hereditäres"]},"es":{"name":"Retinoblastoma familiar","synonyms":["Retinoblastoma bilateral","Retinoblastoma hereditario"]},"it":{"name":"Retinoblastoma familiare","synonyms":["Retinoblastoma bilaterale","Retinoblastoma ereditario"]},"nl":{"name":"Familiaal retinoblastoom","synonyms":["Bilateraal retinoblastoom","Hereditair retinoblastoom"]},"pt":{"name":"Retinoblastoma familiar"},"pl":{"name":"Siatkówczak rodzinny","synonyms":["Siatkówczak dziedziczny","Sziatkówczak obustronny"]},"cs":{"name":"Dědičná/Hereditární forma retinoblastomu"},"uk":{"name":"Спадкова ретинобластома"},"zh":{"name":"遗传性视网膜母细胞瘤"},"tr":{"name":"Kalıtsal retinoblastom"}},"xrefs":[{"source":"OMIM","code":"180200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C69.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2D02.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751483","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":183619,"name":"Genetic eye tumor","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":790,"name":"Retinoblastoma","classifications":[189,202]}],"children":[],"genes":[{"symbol":"MYCN","name":"MYCN proto-oncogene, bHLH transcription factor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23498719[PMID]_23498720[PMID]","hgnc":"7559","ensembl":"ENSG00000134323","omim":"164840","loci":["2p24.3"]},{"symbol":"RB1","name":"RB transcriptional corepressor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301625[PMID]_23498719[PMID]_23498780[PMID]_16934146[PMID]","hgnc":"9884","ensembl":"ENSG00000139687","omim":"614041","loci":["13q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}