{"orpha":94080,"name":"Non-functioning paraganglioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Non-secreting paraganglioma"],"definition":"A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94080/","orphanet_url":"https://www.orpha.net/en/disease/detail/94080","names":{"fr":{"name":"Paragangliome non sécrétant","definition":"Une tumeur neuroendocrine rare issue des cellules paraganglionnaires dérivées des crêtes neurales (le plus souvent, dans la région para-aortique, au niveau du hile du rein, de l'organe de Zuckerkandl, de la région paraspinale thoracique, de la vessie et du corps carotidien), et non associée à la sécrétion de catécholamine. Cette tumeur est généralement silencieuse, et s'ils sont présents, les symptômes ne sont pas spécifiques et dépendent de la localisation de la tumeur. Elles peuvent être associées à certains syndromes héréditaires de prédisposition au cancer, tels que la néoplasie endocrine multiple, la neurofibromatose type 1 ou la maladie de von Hippel-Lindau."},"de":{"name":"Paragangliom, nicht-funktionelles","synonyms":["Paragangliom, nicht-sezernierendes"],"definition":"Das nicht-funktionelle Paragangliom ist ein seltener neuroendokriner Tumor, der aus von der Neuralleiste stammenden Paraganglienzellen entsteht (am häufigsten in der para-aortalen Region auf der Höhe der Nierenhilia, dem Zuckerkandl-Organ, der thorakalen paraspinalen Region, der Blase und dem Karotiskörper) und nicht mit einer Katecholaminsekretion einhergeht. Diese Tumoren sind in der Regel klinisch stumm und die Symptome, falls vorhanden, sind unspezifisch und hängen von der Lokalisation des Tumors ab. Eine Assoziation mit bestimmten hereditären krebsprädisponierenden Syndromen, wie z. B. der multiplen endokrinen Neoplasie, der Neurofibromatose Typ 1 oder dem von-Hippel-Lindau-Syndrom, kann beobachtet werden."},"es":{"name":"Paraganglioma no funcionante","synonyms":["Paraganglioma no secretante"],"definition":"Es un tumor neuroendocrino poco frecuente que surge de las células paraganglionares derivadas de la cresta neural (la mayoría de las veces en la región paraaórtica a nivel del hilio renal, órgano de Zuckerkandl, región paraespinal torácica, vejiga y cuerpo carotídeo) y que no está asociado con secreción de catecolaminas. Estos tumores suelen ser clínicamente silentes y los síntomas, si están presentes, son inespecíficos y dependen de la ubicación del tumor. Se puede observar asociación con ciertos síndromes hereditarios de predisposición al cáncer, tales como la neoplasia endocrina múltiple, la neurofibromatosis tipo 1 o el síndrome de von Hippel Lindau."},"it":{"name":"Paraganglioma non secernente","definition":"Il paraganglioma non secernente è un tumore neuroendocrino raro, che origina dalle cellule paragangliari della cresta neurale (soprattutto della regione para-aortica a livello dell'ilo renale, dell'organo di Zuckerkandl, della regione paraspinale toracica, della vescica e del corpo carotideo), non associato alla secrezione di catecolamine. Di solito il tumore è silente dal punto di vista clinico e i sintomi, se presenti, sono aspecifici e dipendono dalla sua localizzazione. Può associarsi ad alcune sindromi ereditarie che predispongono ai tumori, come la neoplasia endocrina multipla, la neurofibromatosi tipo 1 e la sindrome di von Hippel Lindau."},"nl":{"name":"Niet-functioneel paraganglioom","synonyms":["Niet-secreterend paraganglioom"],"definition":"Niet-functionerend paraganglioom is een zeldzame neuro-endocriene tumor die ontstaat uit paraganglioncellen afgeleid van de neurale lijst (meestal in de para-aortale regio ter hoogte van de hilus renalis, orgaan van Zuckerkandl, thoracale paraspinale regio, blaas, en carotislichaampjes) en niet is geassocieerd met secretie van catecholamine. Deze tumoren gaan meestal niet gepaard met klinische verschijnselen en indien aanwezig zijn de symptomen niet-specifiek en afhankelijk van de locatie van de tumor. Associatie met bepaalde erfelijke kankerpredispositiesyndromen, zoals multipele endocriene neoplasie, neurofibromatose type 1 of syndroom van von Hippel-Lindau, kan mogelijk waargenomen worden."},"pt":{"name":"Paraganglioma não-secretor"},"pl":{"name":"Przyzwojak nieczynny hormonalnie","synonyms":["Non-secreting paraganglioma"]},"cs":{"name":"Nesekretující paragangliom","synonyms":["Non-secreting paraganglioma"]},"uk":{"name":"Нефункціонуюча парагангліома","synonyms":["Несекретуюча парагангліома"],"definition":"A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed."},"zh":{"name":"无功能性副神经节瘤","synonyms":["非分泌性副神经节瘤"],"definition":"一种罕见的神经内分泌肿瘤，由神经嵴衍生的与儿茶酚胺分泌无关的副神经节细胞演化而成，通常位于肾门水平的主动脉旁区、Zuckerkandl器官、胸椎旁区、膀胱和颈动脉体。这些肿瘤在临床上通常是无症状的，如果有症状，也是非特异性的，取决于肿瘤的位置。可观察到某些遗传性癌症易感综合征，如多发性内分泌肿瘤、神经纤维瘤病1型或von-Hippel-lindau综合征。"},"tr":{"name":"İşlevsel olmayan paraganglioma","synonyms":["Salgılamayan paragangliom"]}},"xrefs":[{"source":"ICD-10","code":"D44.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F9A","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019788","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707263","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":101106,"name":"OBSOLETE: Non-secreting chemodectoma","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":573163,"name":"Pheochromocytoma-paraganglioma","classifications":[193,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-29","source":"17200167[PMID]_24893135[PMID]_19628817[PMID]_22948026[PMID]_17102067[PMID]_9509062[PMID]_17940110[PMID]_12000821[PMID]_17940110[PMID]_20503330[PMID]_12574179[PMID]_11502790[PMID]_9509062[PMID]_5015920[PMID]_20260947[PMID]_4340974[PMID]","terms":[{"hpo":"HP:0002668","label":"Paraganglioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011979","label":"Elevated urinary dopamine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003639","label":"Elevated urinary epinephrine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003345","label":"Elevated urinary norepinephrine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001069","label":"Episodic hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002640","label":"Hypertension associated with pheochromocytoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001095","label":"Hypertensive retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002864","label":"Paraganglioma of head and neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010532","label":"Paroxysmal vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003574","label":"Positive regitine blocking test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008629","label":"Pulsatile tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002331","label":"Recurrent paroxysmal headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011703","label":"Sinus tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001293","label":"Cranial nerve compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Occasional (29-5%)","criteria":null}]}}