{"orpha":251877,"name":"Ganglioneuroblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome, depending on the location of the tumor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251877/","orphanet_url":"https://www.orpha.net/en/disease/detail/251877","names":{"fr":{"name":"Ganglioneuroblastome","definition":"Le ganglioneuroblastome est un type rare de tumeur neuroectodermique primitive (TNEP) affectant presque exclusivement les nourrissons et les jeunes enfants âgés de moins de dix ans. Il survient généralement au niveau du médiastin postérieur, de la médullosurrénale et du rétropéritoine extra-surrénalien (mais parfois dans le cou et le pelvis), avec des métastases se présentant le plus souvent dans les os. Sur le plan clinique, il se caractérise par une douleur, un stridor, une dyspnée, des signes neurologiques périphériques, un syndrome de veine cave supérieure et un syndrome de Horner congénital, en fonction de la localisation de la tumeur."},"de":{"name":"Ganglioneuroblastom"},"es":{"name":"Ganglioneuroblastoma","definition":"El ganglioneuroblastoma es un tipo poco frecuente de tumor neuroectodérmico primitivo (PNET; consulte este término), que afecta casi exclusivamente a bebés y niños menores de 10 años de edad. Por lo general se localiza en el mediastino posterior, la médula suprarrenal o en el retroperitoneo extra-adrenal (y en ocasiones en el cuello y la pelvis), con metástasis que se afectan frecuentemente a los huesos. Se caracteriza clínicamente por la presencia de dolor, estridor, asfixia o falta de aliento, signos neurológicos periféricos, síndrome de la vena cava superior y síndrome de Horner congénito (consulte este término), dependiendo de la localización del tumor."},"it":{"name":"Ganglioneuroblastoma","definition":"Il ganglioneuroblastoma è una forma rara di tumore neuroectodermico primitivo (PNET; si veda questo termine) che interessa quasi esclusivamente i neonati e i bambini piccoli prima dei 10 anni. Di solito è presente nel mediastino posteriore, nella midollare del surrene, e nel retroperitoneo extra-surrenalico (occasionalmente a livello del collo e della pelvi), con frequenti metastasi alle ossa. È caratterizzato, dal punto di vista clinico, da dolore, stridore respiratorio, respiro corto, segni neurologici periferici, sindrome della vena cava superiore e sindrome di Horner congenita (si veda questo termine), a seconda della localizzazione."},"nl":{"name":"Ganglioneuroblastoom","definition":"Ganglioneuroblastoom is een zeldzaam type primitieve neuro-ectodermale tumor (PNET; zie deze term) dat bijna alleen zuigelingen en jonge kinderen onder de 10 jaar treft, meestal voorkomt in het achterste deel van het mediastinum, het bijniermerg en het extra-adrenaal retroperitoneum (maar soms ook in nek en bekken), en uitzaaiingen vertoont, voornamelijk naar de beenderen. De ziekte wordt klinisch gekarakteriseerd door pijn, stridor, kortademigheid, perifere neurologische symptomen, vena cava superior-syndroom en Congenitaal Hornersyndroom (zie deze term), afhankelijk van de locatie van de tumor."},"pt":{"name":"Glanglioneuroblastoma"},"pl":{"name":"Nerwiak zwojokomórkowy zarodkowy"},"cs":{"name":"Ganglioneuroblastom"},"uk":{"name":"Гангліоневробластома","definition":"Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor."},"zh":{"name":"神经节成神经细胞瘤","definition":"节神经母细胞瘤是一种罕见的原始神经外胚层肿瘤，几乎只影响10岁以下的婴幼儿，通常发生在后纵隔、肾上腺髓质和肾上腺后腹膜外(但有时发生在颈部和骨盆)，转移最常出现在骨骼，临床特征是疼痛、喘鸣、呼吸急促、周围神经症状、上腔静脉综合征和先天性霍纳综合征(见本词条)，取决于肿瘤的位置。"},"tr":{"name":"Ganglionöroblastom"}},"xrefs":[{"source":"ICD-10","code":"C71.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.11","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0005035","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206718","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10017708","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":"ALK","name":"ALK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20301782[PMID]","hgnc":"427","ensembl":"ENSG00000171094","omim":"105590","loci":["2p23.2-p23.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":425.0,"area":"Worldwide","status":"Validated","source":"NCDB National Cancer Database[OTHER]_36171902[PMID]_36405824[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"NCDB National Cancer Database[OTHER]_36171902[PMID]_36405824[PMID]_ORPHANET"}],"phenotypes":null}