{"orpha":276621,"name":"Sporadic pheochromocytoma/secreting paraganglioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276621/","orphanet_url":"https://www.orpha.net/en/disease/detail/276621","names":{"fr":{"name":"Phéochromocytome/paragangliome sécrétant sporadique","definition":"Le phéochromocytome/ paragangliome sécrétant sporadique est une tumeur isolée, non familiale, sécrétant la catecholamine et prenant son origine des cellules chromaffines neuroendocriniennes dans la médullosurrénale ou du tissu chromaffin extra-surrénalien, respectivement. La plupart de ces tumeurs sont bénignes. Les signes de présentation sont dus à l'augmentation de la production de catécholamine par la tumeur, ce qui inclut une hypertension (souvent paroxysmique), une tachycardie, une anxiété et/ou une hyperhydrose."},"de":{"name":"Sporadisches Phaeochromozytom/sezernierendes Paragangliom","definition":"Sporadische Phäochromozytome/sezernierende Paragangliome sind isolierte, nicht-familiäre, Katecholamin-produzierende Tumoren, die von neuroendokrinen chromaffinen Zellen im Nebennierenmark bzw. im extra-adrenalen chromaffinen Gewebe ausgehen. Die Mehrzahl dieser Tumoren ist gutartig und die präsentierenden Symptome werden typischerweise durch die erhöhte Katecholaminproduktion des Tumors verursacht, einschließlich Hypertonie (oft paroxysmal), Tachykardie, Angst und/oder übermäßiges Schwitzen."},"es":{"name":"Feocromocitoma esporádico/paraganglioma secretor","definition":"El feocromocitoma esporádico/paraganglioma secretor son tumores productores de catecolaminas, aislados, no-familiares, que se desarrollan a partir de células neuroendocrinas cromafines en la médula suprarrenal o en el tejido cromafín extra-suprarrenal, respectivamente. La mayoría de estos tumores son benignos y los síntomas de presentación suelen estar causados por el aumento de la producción de catecolaminas del tumor, incluida la hipertensión (a menudo paroxística), taquicardia, ansiedad y/o sudoración excesiva."},"it":{"name":"Feocromocitoma/paraganglioma secernente sporadico","definition":"Il feocromocitoma e il paraganglioma secernente sporadico sono tumori isolati, non ereditari che producono catecolamine e originano, rispettivamente, dalle cellule cromaffini localizzate nella midollare del surrene o nel tessuto cromaffine extra-surrenale. La maggior parte di questi tumori è benigna. Di solito i segni clinici d'esordio, dovuti all'aumento della produzione di catecolamine da parte del tumore, sono l'ipertensione (spesso parossistica), la tachicardia, l'ansia e/o la sudorazione eccessiva."},"nl":{"name":"Sporadisch feochromocytoom/secreterend paraganglioom","definition":"Sporadisch feochromocytoom/secreterend paraganglioom zijn geïsoleerde, niet-familiale, catecholamine-producerende tumoren die ontstaan uit neuro-endocriene chromaffiene cellen in respectievelijk de adrenale medulla (bijniermerg) of extra-adrenaal chromaffien weefsel. De meeste van deze tumoren zijn goedaardig, en de symptomen die zich voordoen, waaronder hypertensie (vaak paroxysmale), tachycardie, angst en/of overmatig zweten, worden doorgaans veroorzaakt door de verhoogde productie van catecholamine door de tumor."},"pt":{"name":"Feocromocitoma esporádico/paraganglioma secretor"},"pl":{"name":"Guz chromochłonny/przyzwojak wydzielający sporadyczny"},"cs":{"name":"Sporadický feochromocytom/sekretující paragangliom"},"uk":{"name":"Спорадична феохромоцитома/секретуюча парагангліома","definition":"A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating."},"zh":{"name":"散发性嗜铬细胞瘤/分泌性副神经节瘤","definition":"散发性嗜铬细胞瘤/分泌型副神经节瘤是由肾上腺髓质的神经内分泌嗜铬细胞（嗜铬细胞瘤）或肾上腺外嗜铬组织（副神经节瘤）引起的一种罕见的孤立性非家族性嗜铬细胞瘤/副神经节瘤。这些肿瘤多为良性，其症状常由肿瘤儿茶酚胺分泌增加引起，包括高血压（常为阵发性）、心动过速、焦虑和/或多汗。"},"tr":{"name":"Sporadik feokromositom/salgılayıcı paragangliom"}},"xrefs":[{"source":"ICD-10","code":"C74.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D35.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A75","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707333","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":276624,"name":"OBSOLETE: Sporadic pheochromocytoma","status":"inactive"},{"type":"Referred to","orpha":276627,"name":"OBSOLETE: Sporadic secreting paraganglioma","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":573163,"name":"Pheochromocytoma-paraganglioma","classifications":[193,202]}],"children":[],"genes":[{"symbol":"DNMT3A","name":"DNA methyltransferase 3 alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"29740169[PMID]","hgnc":"2978","ensembl":"ENSG00000119772","omim":"602769","loci":["2p23.3"]},{"symbol":"EPAS1","name":"endothelial PAS domain protein 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23418310[PMID]","hgnc":"3374","ensembl":"ENSG00000116016","omim":"603349","loci":["2p21"]},{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12000816[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"]},{"symbol":"SDHB","name":"succinate dehydrogenase complex iron sulfur subunit B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12000816[PMID]","hgnc":"10681","ensembl":"ENSG00000117118","omim":"185470","loci":["1p36.13"]},{"symbol":"SDHD","name":"succinate dehydrogenase complex subunit D","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12000816[PMID]","hgnc":"10683","ensembl":"ENSG00000204370","omim":"602690","loci":["11q23.1"]},{"symbol":"VHL","name":"von Hippel-Lindau tumor suppressor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12000816[PMID]_27539324[PMID]","hgnc":"12687","ensembl":"ENSG00000134086","omim":"608537","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-01-28","source":"39735644[PMID]_36218060[PMID]_37115176[PMID]_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:0006748","label":"Adrenal pheochromocytoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006737","label":"Extraadrenal pheochromocytoma","frequency":"Very frequent (99-80%)","criteria":null},{"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:0000740","label":"Episodic paroxysmal anxiety","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:0000096","label":"Glomerulosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","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:0001278","label":"Orthostatic hypotension","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:0000093","label":"Proteinuria","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:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031500","label":"Abdominal mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","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:0002019","label":"Constipation","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:0003074","label":"Hyperglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100735","label":"Hypertensive crisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","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:0000083","label":"Renal insufficiency","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}]}}