{"orpha":790,"name":"Retinoblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-790/","orphanet_url":"https://www.orpha.net/en/disease/detail/790","names":{"fr":{"name":"Rétinoblastome","definition":"Tumeur rare de l'oeil représentant la tumeur maligne intraoculaire la plus fréquente chez les enfants. Il s'agit d'une néoplasie mettant en jeu le pronostic vital mais potentiellement curable. Elle peut être héréditaire ou non, unilatérale ou bilatérale."},"de":{"name":"Retinoblastom","definition":"Eine seltene Augentumorerkrankung, die die häufigste intraokulare Malignität bei Kindern repräsentiert. Es handelt sich um eine lebensbedrohliche, aber potentiell heilbare Neoplasie, die erblich oder nicht erblich, ein- oder beidseitig sein kann."},"es":{"name":"Retinoblastoma","definition":"Es una enfermedad tumoral ocular poco frecuente que representa la neoplasia intraocular más habitual en niños. Es una neoplasia de amenaza para la vida pero potencialmente curable, pudiendo ser hereditaria o adquirida, uni- o bilateral."},"it":{"name":"Retinoblastoma","definition":"Si tratta della più comune neoplasia intraoculare maligna dell'infanzia. Il tumore è potenzialmente letale, ma può essere curato. Esistono forme ereditarie e non ereditarie, mono- e bilaterali."},"nl":{"name":"Retinoblastoom","definition":"Een zeldzame oogtumor die de meest voorkomende intraoculaire maligniteit bij kinderen vertegenwoordigt. Het is een levensbedreigende neoplasie maar kan mogelijk genezen worden. Het is al dan niet erfelijk, en kan unilateraal of bilateraal voorkomen."},"pt":{"name":"Retinoblastoma"},"pl":{"name":"Siatkówczak","definition":"Rzadka choroba nowotworowa oka, będąca najczęstszym nowotworem wewnątrzgałkowym u dzieci. Stanowi zagrożenie dla życia, ale jest potencjalnie uleczalna. Może być dziedziczna lub niedziedziczna, dotyczyć jednego lub obojga oczu."},"cs":{"name":"Retinoblastom"},"uk":{"name":"Ретинобластома","definition":"A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral."},"zh":{"name":"视网膜母细胞瘤"},"tr":{"name":"Retinoblastom"}},"xrefs":[{"source":"OMIM","code":"180200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C69.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2D02.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1855353671"},{"source":"MONDO","code":"0008380","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012175","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0035335","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7563","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038916","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":101950,"name":"Rare eye tumor","classifications":[189,202]}],"children":[{"orpha":357027,"name":"Hereditary retinoblastoma","type":"Clinical subtype"},{"orpha":357034,"name":"Non-hereditary retinoblastoma","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":357027,"name":"Hereditary retinoblastoma"}},{"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"],"via":{"orpha":357034,"name":"Non-hereditary retinoblastoma"}},{"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"],"via":{"orpha":357027,"name":"Hereditary retinoblastoma"}},{"symbol":"RB1","name":"RB transcriptional corepressor 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23498719[PMID]_23498780[PMID]_16934146[PMID]","hgnc":"9884","ensembl":"ENSG00000139687","omim":"614041","loci":["13q14.2"],"via":{"orpha":357034,"name":"Non-hereditary retinoblastoma"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.6,"area":"Taiwan, Province of China","status":"Validated","source":"19373260[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"Korea, Republic of","status":"Validated","source":"24692122[PMID]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.05,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Worldwide","status":"Validated","source":"22414599[PMID]_19704035[PMID]_ [EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.05,"area":"Japan","status":"Validated","source":"1513060[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.073,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.035,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.053,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.033,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.043,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.071,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.045,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.017,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.094,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.071,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.038,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.047,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.042,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.038,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.048,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.039,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.071,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.107,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-17","source":"26755259[PMID]_25126964[PMID]_21150892[PMID]_20029477[PMID]_22414599[PMID]_6654325[PMID]","terms":[{"hpo":"HP:0009919","label":"Retinoblastoma","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031615","label":"Hypopyon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000555","label":"Leukocoria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012372","label":"Abnormal eye morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011886","label":"Hyphema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100243","label":"Leiomyosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002669","label":"Osteosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025337","label":"Red eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007862","label":"Retinal calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025244","label":"Subretinal pigment epithelium hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012254","label":"Ewing sarcoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009733","label":"Glioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030408","label":"Pineoblastoma","frequency":"Very rare (<4-1%)","criteria":null}]}}