{"orpha":251992,"name":"Ganglioneuroma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251992/","orphanet_url":"https://www.orpha.net/en/disease/detail/251992","names":{"fr":{"name":"Ganglioneurome","definition":"Tumeur rare du tissu neuroépithélial, bénigne et bien différenciée, provenant de la crête neurale, se développant à partir du système nerveux sympathique et composée de cellules ganglionnaires et de cellules stromales de Schwann. Elle peut apparaître dans toutes les régions du corps, de la base du crâne au bassin, les localisations les plus fréquentes étant les glandes surrénales, le rétropéritoine, le médiastin postérieur et le bassin, ou, dans de rares cas, le système nerveux central, le coeur, les os, l'intestin ou dans d'autres organes. La tumeur peut être asymptomatique ou donner lieu à divers symptômes dus à la présence de la masse. Une association avec la neurofibromatose type I, la néoplasie endocrinienne multiple type 2B et le syndrome de Turner a été rapportée."},"de":{"name":"Ganglioneurom","definition":"Das Ganglioneurom ist ein seltene, gutartige Neoplasie des neuroepithelialen Gewebes, das sich als differenzierte, von der Neuralleiste abgeleitete Masse darstellt, die vom sympathischen Nervensystem ausgeht und aus Ganglienzellen und Schwann-Stromazellen besteht. Er kann überall von der Schädelbasis bis zum Becken entstehen, wobei die häufigsten Lokalisationen die Nebennieren, das Retroperitoneum, das hintere Mediastinum und das Becken sind, oder, in seltenen Fällen, das zentrale Nervensystem, das Herz, die Knochen, der Darm oder andere Stellen. Die Patienten können asymptomatisch sein oder klinische Zeichen aufweisen, die auf das Vorhandensein der Masse zurückzuführen sind. Es wurde über eine Assoziation mit Neurofibromatose Typ I, multipler endokriner Neoplasie Typ 2B und Turner-Syndrom berichtet."},"es":{"name":"Ganglioneuroma","definition":"Es un tumor poco frecuente de tejido neuroepitelial, benigno y bien diferenciado con origen en la cresta neural, que surge en el sistema nervioso simpático y está compuesto por células ganglionares y células estromales de Schwann. Puede aparecer en cualquier localización, desde la base del cráneo hasta la pelvis, siendo las localizaciones más frecuentes las glándulas suprarrenales, retroperitoneo, mediastino posterior y pelvis y, en casos excepcionales, el sistema nervioso central, corazón, huesos, intestino u otros. Puede ser asintomático o presentar diversos síntomas debido al efecto masa. Se ha descrito asociación con la neurofibromatosis tipo I, neoplasia endocrina múltiple tipo 2B y síndrome de Turner."},"it":{"name":"Ganglioneuroma","definition":"Il ganglioneuroma è una neoplasia rara benigna del tessuto neuroepiteliale, che si presenta come massa differenziata di derivazione dalla cresta neurale, che origina dal sistema nervoso simpatico ed è composta da cellule ganglionari e stromali di Schwann. Può localizzarsi in ogni distretto, dalla base del cranio fino alla pelvi, anche se di solito predilige le ghiandole surrenali, il retroperitoneo, il mediastino posteriore e la pelvi; localizzazioni meno frequenti sono il sistema nervoso centrale, il cuore, le ossa e l'intestino. I pazienti possono essere asintomatici oppure presentare segni clinici secondari alla presenza della massa. Può associarsi alla neurofibromatosi tipo 1, alla neoplasia endocrina multipla tipo 2B e alla sindrome di Turner."},"nl":{"name":"Ganglioneuroom","definition":"Ganglioneuroom is een zeldzame tumor van neuro-epitheliaal weefsel, een goedaardige en goed gedifferentieerde tumor afkomstig van de neurale lijst, die ontstaat uit het sympathische zenuwstelsel en bestaat uit ganglioncellen en stromale Schwanncellen. Het kan eender waar ontstaan, van de basis van de schedel tot het bekken, met de meest frequente locaties zijnde de bijnieren, het retroperitoneum, het posterieur mediastinum en het bekken, of in zeldzamere gevallen, het centrale zenuwstelsel, het hart, de botten, de darmen of andere plaatsen. Het kan asymptomatisch zijn of zich voordoen met diverse symptomen als gevolg van het massa-effect. Er werd associatie met neurofibromatose type I, multipele endocriene neoplasie type 2B en syndroom van Turner gerapporteerd."},"pt":{"name":"Glanglioneuroma"},"pl":{"name":"Zwojakonerwiak","definition":"*Zwojakonerwiak, rzadki nowotwór wywodzący się z tkanki neuroepitelialnej (nerwowo-nabłonkowej), jest łagodnym i dobrze zróżnicowanym guzem pochodzącym z grzebienia nerwowego, który powstaje z komórek współczulnego układu nerwowego i jest zbudowany z komórek zwojowych i komórek Schwanna. Może rozwinąć się w dowolnym miejscu - od podstawy czaszki do miednicy, przy czym najczęstszą lokalizacją są nadnercza, przestrzeń zaotrzewnowa, tylne śródpiersie, miednica lub, w rzadkich przypadkach, ośrodkowy układ nerwowy, serce, kości, jelito lub inne narządy. Może przebiegać bezobjawowo lub dawać różne objawy, związane z efektem masy. Opisywano jego występowanie w neurofibromatozie typu I, mnogiej gruczolakowatości wewnątrzwydzielniczej typu 2B i w zespole Turnera."},"cs":{"name":"Ganglioneurom"},"uk":{"name":"Гангліоневрома","definition":"Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported."},"zh":{"name":"神经节瘤","definition":"神经节细胞瘤是一种少见的起源于交感神经系统的神经上皮组织肿瘤，由神经节细胞和基质施旺细胞组成，是一种起源于神经嵴的高度分化的良性肿瘤。它可以发生在从颅底到骨盆的任何地方，最常见的部位是肾上腺、腹膜后、后纵隔和骨盆，少数情况下是中枢神经系统、心脏、骨骼、肠道或其他部位。它可能是无症状的，也可能由于肿块效应而出现各种症状。神经纤维瘤病I型、多发性内分泌腺瘤病2B型和Turner综合征等表现也有相关报道。"},"tr":{"name":"Ganglionörom"}},"xrefs":[{"source":"ICD-10","code":"D36.1","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"215959075"},{"source":"ICD-11","code":"XH03L9","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1107564829"},{"source":"MONDO","code":"0005033","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017075","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10017709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251934,"name":"Mixed neuronal-glial 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":[],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-10","source":"2917322[PMID]_10421273[PMID]_15827098[PMID]_20427489[PMID]_17090203[PMID]_17404862[PMID]_17936435[PMID]_19204248[PMID]_19738538[PMID]_20452635[PMID]_1577976[PMID]_2752827[PMID]_10565651[PMID]_8344115[PMID]_26122142[PMID]_8080368[PMID]","terms":[{"hpo":"HP:0003005","label":"Ganglioneuroma","frequency":"Obligate (100%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005220","label":"Multiple intestinal neurofibromatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005249","label":"Functional intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004390","label":"Hamartomatous polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100631","label":"Neoplasm of the adrenal gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008775","label":"Abnormal prostate morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002034","label":"Abnormality of the rectum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007110","label":"Central hypoventilation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}