{"orpha":29072,"name":"Hereditary pheochromocytoma-paraganglioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial pheochromocytoma-paraganglioma"],"definition":"A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-29072/","orphanet_url":"https://www.orpha.net/en/disease/detail/29072","names":{"fr":{"name":"Phéochromocytome-paragangliome héréditaire","synonyms":["Phéochromocytome-paragangliome familial"],"definition":"Tumeur héréditaire rare de type phéochromocytome/paragangliome, provenant de cellules chromaffines neuroendocrines de la moelle surrénale (phéochromocytome) ou de tout paraganglion de la base du crâne au plancher pelvien (paragangliome). Les manifestations cliniques sont souvent liées à une production excessive de catécholamines entraînant une élévation soutenue ou paroxystique de la pression artérielle, des céphalées, une transpiration abondante épisodique, des palpitations, une pâleur et une appréhension ou une anxiété. Les tumeurs héréditaires de phéochromocytomes/paragangliomes ont tendance à se présenter à un âge plus précoce, à être multifocales, bilatérales et récurrentes, ou à présenter de multiples néoplasmes synchrones."},"de":{"name":"Phäochromozytom-Paragangliom-Syndrom, hereditäres","synonyms":["Phaeochromozytom-Paragangliom-Syndrom, familiäres"],"definition":"Die Hereditären Paragangliome-Phäochromozytome (PGL/PCC) sind seltene neuroendokrine Tumoren, die als Paragangliome (in beliebigen Paraganglien zwischen Schädelbasis und Beckenboden) und als Phäochromozytome (Nebennierenmark-Paragangliome; s. dort) in Erscheinung treten."},"es":{"name":"Feocromocitoma-paraganglioma hereditario","synonyms":["Feocromocitoma-paraganglioma familiar"],"definition":"Es un feocromocitoma/paraganglioma hereditario poco frecuente que surge de las células cromafines neuroendocrinas de la médula suprarrenal (feocromocitoma) o de cualquier paraganglio desde la base del cráneo hasta el suelo pélvico (paraganglioma). Las manifestaciones clínicas a menudo están relacionadas con la producción excesiva de catecolaminas que causan elevaciones sostenidas o paroxísticas de la presión arterial, cefaleas, sudoración profusa episódica, palpitaciones, palidez y aprensión o ansiedad. Los tumores hereditarios de feocromocitoma/paraganglioma tienden a presentarse a edades más tempranas, ser multifocales, bilaterales y recurrentes, o tener múltiples neoplasias sincrónicas."},"it":{"name":"Feocromocitoma - paraganglioma, ereditario","synonyms":["Feocromocitoma - paraganglioma, familiare"]},"nl":{"name":"Hereditair feochromocytoom-paraganglioom","synonyms":["Erfelijk feochromocytoom-paraganglioom","Familiaal feochromocytoom-paraganglioom"],"definition":"Een zeldzaam, hereditair feochromocytoom/paraganglioom die ontstaat uit neuro-endocriene chromaffiene cellen van bijniermerg (feochromocytoom) of uit eender welk paraganglion van schedelbasis tot bekkenbodem (paraganglioom). Klinische manifestaties zijn vaak gerelateerd aan excessieve productie van catecholaminen, wat resulteert in aanhoudende of paroxysmale verhoging van bloeddruk, hoofdpijn, episodisch overmatig zweten, hartkloppingen, bleekheid, en ongerustheid of angst. Erfelijke feochromocytoom/paraganglioom-tumoren presenteren zich eerder op jonge leeftijd, zijn multifocaal, bilateraal en recidiverend, of hebben multipele synchrone neoplasmata."},"pt":{"name":"Feocromocitomas-paraganglioma hereditário"},"pl":{"name":"Dziedziczny zespół guza chromochłonnego i przyzwojaków","synonyms":["Rodzinny guz chromochłonny - przyzwojak"]},"cs":{"name":"Hereditární feochromocytom a paragangliom","synonyms":["Familiární feochromocytom a paragangliom"]},"uk":{"name":"Спадкова феохромоцитома-парагангліома","synonyms":["Сімейна феохромоцитома-парагангліома"],"definition":"A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms."},"zh":{"name":"遗传性嗜铬细胞瘤-副神经节瘤","synonyms":["家族性嗜铬细胞瘤-副神经节瘤"]},"tr":{"name":"Kalıtsal feokromositoma-paraganglioma","synonyms":["Ailesel feokromositoma-paraganglioma"]}},"xrefs":[{"source":"OMIM","code":"115310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"168000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"171300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605373","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614165","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618464","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618475","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C74.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C75.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D35.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D35.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A75","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017366","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274332","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11984","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":271847,"name":"Genetic neuroendocrine tumor","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":573163,"name":"Pheochromocytoma-paraganglioma","classifications":[193,202]},{"orpha":183637,"name":"Rare genetic adrenal disease","classifications":[156]}],"children":[],"genes":[{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23551045[PMID]_24375508[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"]},{"symbol":"TMEM127","name":"transmembrane protein 127","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21156949[PMID]","hgnc":"26038","ensembl":"ENSG00000135956","omim":"613403","loci":["2q11.2"]},{"symbol":"FH","name":"fumarate hydratase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24334767[PMID]_25004247[PMID]","hgnc":"3700","ensembl":"ENSG00000091483","omim":"136850","loci":["1q43"]},{"symbol":"KIF1B","name":"kinesin family member 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18334619[PMID]","hgnc":"16636","ensembl":"ENSG00000054523","omim":"605995","loci":["1p36.22"]},{"symbol":"DLST","name":"dihydrolipoamide S-succinyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31051110[PMID]","hgnc":"2911","ensembl":"ENSG00000119689","omim":"126063","loci":["14q24.3"]},{"symbol":"MAX","name":"MYC associated transcriptional regulator X","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301715[PMID]","hgnc":"6913","ensembl":"ENSG00000125952","omim":"154950","loci":["14q23.3"]},{"symbol":"MDH2","name":"malate dehydrogenase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25766404[PMID]","hgnc":"6971","ensembl":"ENSG00000146701","omim":"154100","loci":["7q11.23"]},{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30536464[PMID]","hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"]},{"symbol":"SDHA","name":"succinate dehydrogenase complex flavoprotein subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301715[PMID]","hgnc":"10680","ensembl":"ENSG00000073578","omim":"600857","loci":["5p15.33"]},{"symbol":"SDHAF2","name":"succinate dehydrogenase complex assembly factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301715[PMID]","hgnc":"26034","ensembl":"ENSG00000167985","omim":"613019","loci":["11q12.2"]},{"symbol":"SDHB","name":"succinate dehydrogenase complex iron sulfur subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301715[PMID]","hgnc":"10681","ensembl":"ENSG00000117118","omim":"185470","loci":["1p36.13"]},{"symbol":"SDHC","name":"succinate dehydrogenase complex subunit C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301715[PMID]","hgnc":"10682","ensembl":"ENSG00000143252","omim":"602413","loci":["1q23.3"]},{"symbol":"SDHD","name":"succinate dehydrogenase complex subunit D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301715[PMID]","hgnc":"10683","ensembl":"ENSG00000204370","omim":"602690","loci":["11q23.1"]},{"symbol":"SLC25A11","name":"solute carrier family 25 member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29431636[PMID]","hgnc":"10981","ensembl":"ENSG00000108528","omim":"604165","loci":["17p13.2"]},{"symbol":"VHL","name":"von Hippel-Lindau tumor suppressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9215674[PMID]_19574279[PMID]","hgnc":"12687","ensembl":"ENSG00000134086","omim":"608537","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Worldwide","status":"Not yet validated","source":"20301715[PMID]_23162105[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet 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:0012222","label":"Arachnoid hemangiomatosis","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:0003528","label":"Elevated calcitonin","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:0005584","label":"Renal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009711","label":"Retinal capillary hemangioma","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},{"hpo":"HP:0000526","label":"Aniridia","frequency":"Very rare (<4-1%)","criteria":null}]}}