{"orpha":635,"name":"Neuroblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare embryonal tumor of neuroepithelial tissue arising from neural crest cells, typically presenting in infancy or early childhood. Its symptoms depend on tumor stage and location along the sympathetic nervous system, ranging from localized masses to metastatic disease involving the bone, bone marrow, liver, lymph nodes, lung, central nervous system, or skin. Unlike more benign peripheral neuroblastic tumors (intermixed ganglioneuroblastoma and ganglioneuroma), neuroblastoma is characterized by its potential for aggressive invasion and metastases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-635/","orphanet_url":"https://www.orpha.net/en/disease/detail/635","names":{"fr":{"name":"Neuroblastome","definition":"Tumeur embryonnaire rare du tissu neuroépithélial issue des cellules de la crête neurale, se manifestant généralement pendant la petite enfance ou au début de l'enfance. Les symptômes dépendent du stade de la tumeur, allant de masses localisées à une forme métastatique touchant les os, la moelle osseuse, le foie, les ganglions lymphatiques, les poumons, le système nerveux central ou la peau, et de son emplacement le long du système nerveux sympathique. Contrairement aux tumeurs neuroblastiques périphériques plus bénignes (ganglioneuroblastome et ganglioneurome mixtes), le neuroblastome se caractérise par son potentiel d'agressivité et de métastases."},"de":{"name":"Neuroblastom","synonyms":["Sympathoblastom"],"definition":"Ein seltener embryonaler Tumor des neuroepithelialen Gewebes, der aus Neuralleistenzellen entsteht und typischerweise im Säuglings- oder frühen Kindesalter auftritt. Seine Symptome hängen vom Tumorstadium und der Lage entlang des sympathischen Nervensystems ab und reichen von lokalisierten Raumforderungen bis hin zu metastasierenden Erkrankungen, die Knochen, Knochenmark, Leber, Lymphknoten, Lunge, Zentralnervensystem oder Haut betreffen. Im Gegensatz zu gutartigeren peripheren neuroblastischen Tumoren (gemischtes Ganglioneuroblastom und Ganglioneurom) zeichnet sich das Neuroblastom durch sein Potenzial für aggressive Invasion und Metastasen aus."},"es":{"name":"Neuroblastoma","definition":"Es un tumor embrionario poco frecuente de tejido neuroepitelial que se origina en las células de la cresta neural y que suele presentarse en la lactancia o en la primera infancia. Los síntomas dependen del estadio tumoral y de su localización en el sistema nervioso simpático, y varían desde masas localizadas hasta metástasis que afectan al hueso, a la médula ósea, al hígado, a los ganglios linfáticos, al pulmón, al sistema nervioso central o a la piel. A diferencia de los tumores neuroblásticos periféricos más benignos (ganglioneuroblastoma y ganglioneuroma mixtos), el neuroblastoma se caracteriza por su potencial de invasión agresiva y su capacidad metastásica."},"it":{"name":"Neuroblastoma"},"nl":{"name":"Neuroblastoom","definition":"Een zeldzame embryonale tumor van neuro-epitheliaal weefsel die ontstaat uit cellen van de neurale lijst, en die zich doorgaans presenteert in de zuigelingentijd of vroege kindertijd. Symptomen zijn afhankelijk van het stadium van de tumor en zijn locatie langs het sympathische zenuwstelsel, die varieert van gelokaliseerde massa's tot metastatische ziekte met betrokkenheid van bot, beenmerg, lever, lymfeklier, long, centraal zenuwstelsel, of huid. In tegenstelling tot meer goedaardige perifere neuroblastische tumoren (gemengd ganglioneuroblastoom en ganglioneuroom), wordt neuroblastoom gekenmerkt door een potentieel voor agressieve invasie en uitzaaiingen."},"pt":{"name":"Neuroblastoma","synonyms":["Tumor da crista neural"],"definition":"O neuroblastoma é um tumor maligno das células da crista neural, as células que dão origem ao sistema nervoso simpático, que é observado em crianças."},"pl":{"name":"Neuroblastoma/Zwojak zarodkowy współczulny","synonyms":["Sympathoblastoma"],"definition":"Neuroblastoma to złośliwy nowotwór wywodzący się z komórek grzebienia nerwowego, z których zbudowany jest współczulny układ nerwowy, obserwowany u dzieci."},"cs":{"name":"Neuroblastom"},"uk":{"name":"Нейробластома","definition":"Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children."},"zh":{"name":"神经母细胞瘤"},"tr":{"name":"Nöroblastom"}},"xrefs":[{"source":"OMIM","code":"256700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613013","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613014","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613015","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613016","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613017","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616792","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C74.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1323582265"},{"source":"ICD-11","code":"XH85Z0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"883278510"},{"source":"MONDO","code":"0005072","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009447","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027819","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029260","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251870,"name":"Central nervous system embryonal tumor","classifications":[181,202]}],"children":[],"genes":[{"symbol":"MYCN","name":"MYCN proto-oncogene, bHLH transcription factor","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":null,"hgnc":"7559","ensembl":"ENSG00000134323","omim":"164840","loci":["2p24.3"]},{"symbol":"ALK","name":"ALK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"18923523[PMID]","hgnc":"427","ensembl":"ENSG00000171094","omim":"105590","loci":["2p23.2-p23.1"]},{"symbol":"HACE1","name":"HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22911191[PMID]","hgnc":"21033","ensembl":"ENSG00000085382","omim":"610876","loci":["6q16.3"]},{"symbol":"LIN28B","name":"lin-28 RNA binding posttranscriptional regulator B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22911191[PMID]","hgnc":"32207","ensembl":"ENSG00000187772","omim":"611044","loci":["6q16.3-q21"]},{"symbol":"LMO1","name":"LIM domain only 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26560027[PMID]","hgnc":"6641","ensembl":"ENSG00000166407","omim":"186921","loci":["11p15.4"]},{"symbol":"PHOX2B","name":"paired like homeobox 2B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15024693[PMID]","hgnc":"9143","ensembl":"ENSG00000109132","omim":"603851","loci":["4p13"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Europe","status":"Not yet validated","source":"16919772[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"United States","status":"Validated","source":"21108439[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Germany","status":"Validated","source":"11932471[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.26,"area":"Worldwide","status":"Not yet validated","source":"22796286[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-04","source":"28846355[PMID]_3030523[PMID]_29378002[PMID]_27830764[PMID]","terms":[{"hpo":"HP:0011976","label":"Elevated urinary catecholamines","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004375","label":"Neoplasm of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031500","label":"Abdominal mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003334","label":"Elevated circulating catecholamine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001017","label":"Anemic pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031955","label":"Antalgic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011977","label":"Elevated urinary homovanillic acid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011978","label":"Elevated urinary vanillylmandelic acid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002277","label":"Horner syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010543","label":"Opsoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025553","label":"Periorbital ecchymosis with tarsal plate sparing","frequency":"Very rare (<4-1%)","criteria":null}]}}