{"orpha":324299,"name":"EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPAS1-related polycythemia-PPGL syndrome","Paraganglioma-somatostatinoma-polycythemia syndrome"],"definition":"A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple paragangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324299/","orphanet_url":"https://www.orpha.net/en/disease/detail/324299","names":{"fr":{"name":"Syndrome de polycythémie-phéochromocytome/paragangliome associé à EPAS1","synonyms":["Syndrome de polycythémie-PPGL associé à EPAS1","Syndrome de paragangliome-somatostatinome-polycythémie"],"definition":"Maladie endocrinienne rare caractérisée initialement par l'apparition d'une polycythémie et plus tard, par de multiples paragangliomes. Le tableau clinique inclut une hypertension, des céphalées, une fatigue, des nausées, une anxiété et une concentration élevée de globules rouges, entraînant un risque accru d'accident vasculaire cérébral et de thromboembolie pulmonaire."},"de":{"name":"Polyzythämie-Phäochromozytom-/Paragangliom-Syndrom, EPAS1-assoziierts","synonyms":["Paragangliom-Somatostatinom-Polyzythämie-Syndrom","EPAS1-assoziiertes Polyzythämie-PPGL-Syndrom"],"definition":"Eine seltene, endokrine Erkrankung, die durch eine früh einsetzende Polyzythämie und später auftretende multiple Paragangliome gekennzeichnet ist. Zu den klinischen Symptomen gehören Bluthochdruck, Kopfschmerzen, Müdigkeit, Übelkeit, Angstzustände und eine hohe Konzentration roter Blutkörperchen, infolgedessen ein erhöhtes Risiko für Schlaganfälle und pulmonale Thromboembolien besteht."},"es":{"name":"Síndrome de policitemia-feocromocitoma/paraganglioma asociado al gen EPAS1","synonyms":["Síndrome de policitemia-FPGL asociado al gen EPAS1","Síndrome de paraganglioma-somatostatinoma-policitemia"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por policitemia de inicio temprano y múltiples paragangliomas de presentación más tardía. Los síntomas clínicos de inicio incluyen hipertensión, cefaleas, fatiga, náuseas, ansiedad y un elevado recuento eritrocitario, resultando en un riesgo incrementado de accidente cerebrovascular y tromboembolismo pulmonar."},"it":{"name":"Sindrome policitemia-feocromocitoma/paraganglioma correlata a EPAS1","synonyms":["Sindrome paraganglioma-somatostatinoma-policitemia","Sindrome policitemia-PPGL correlata a EPAS1"],"definition":"È una malattia endocrina rara caratterizzata da policitemia ad esordio precoce e insorgenza successiva di paragangliomi multipli. I segni clinici comprendono l'ipertensione, la cefalea, l'affaticamento, la nausea, l'ansia e un'elevata concentrazione di eritrociti, che comporta un aumento del rischio di ictus e di tromboembolismo polmonare."},"nl":{"name":"EPAS1-gerelateerd polycytemie - feochromocytoom/paraganglioom-syndroom","synonyms":["EPAS1-gerelateerd polycytemie - PPGL-syndroom","Paraganglioom - somatostatinoom - polycytemie-syndroom"],"definition":"Een zeldzame, endocriene ziekte die gekarakteriseerd wordt door vroege aanvang van polycytemie en later opkomende multipele parangliomen. Het klinisch beeld omvat hypertensie, hoofdpijn, vermoeidheid, misselijkheid, angst, en een hoge concentratie rode bloedcellen met een verhoogd risico op cerebrovasculair accident en pulmonale trombo-embolie."},"pt":{"name":"Paragangliomas múltiplos associados a policitémia"},"pl":{"name":"Mnogie przyzwojaki z towarzyszącą policytemią","synonyms":["Mnogie przyzwojaki z towarzyszącą erytrocytozą","Paraganglioma - somatostatinoma - policytemia"],"definition":"Rzadka, genetycznie uwarunkowana choroba małych naczyń mózgowych, charakteryzująca się podkorowymi zdarzeniami niedokrwiennymi, powiązanymi z pogorszeniem funkcji poznawczych i zaburzeniami chodu, których początek przypada zazwyczaj na szóstą lub siódmą dekadę życia. Badania obrazowe ujawniają hiperintensywność istoty białej, tkanka sitowata, zawały lakunarne, a czasami mikrokrwawienia. Objawy pozaneurologiczne są nieobecne."},"cs":{"name":"Mnohočetné paragangliomy asociované s polycytémií","synonyms":["Syndrom zahrnující paragangliom, somatostatinom a polycytémii","Mnohočetné paragangliomy asociované s erytrocytózou"]},"uk":{"name":"Множинні парагангліоми, повязані з поліцитемією","synonyms":["Множинні парагангліоми, повязані з еритроцитозом","Синдром парагангліоми-соматостатиноми-поліцитемії"],"definition":"A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism."},"zh":{"name":"多发性副神经节瘤伴红细胞增多症","synonyms":["副神经节瘤-生长抑素瘤-红细胞增多综合征"],"definition":"一种罕见的内分泌疾病，其特征是早期出现红细胞增多症，随后出现多发性副神经节瘤。临床表现包括高血压、头痛、疲劳、恶心、焦虑和高浓度红细胞，导致中风和肺血栓栓塞的风险增加。"},"tr":{"name":"Polisitemi ile seyreden bağlı çoklu paragangliomlar","synonyms":["Paraganglioma-somatostatinoma-polisitemi sendromu","Eritrositoz ile ilişkili çoklu paragangliomalar"]}},"xrefs":[{"source":"ICD-10","code":"D75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A81.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017926","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679884","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98427,"name":"Erythrocytosis","classifications":[194]},{"orpha":271847,"name":"Genetic neuroendocrine tumor","classifications":[156]},{"orpha":250165,"name":"Genetic polycythemia","classifications":[156]},{"orpha":573163,"name":"Pheochromocytoma-paraganglioma","classifications":[193,202]},{"orpha":183637,"name":"Rare genetic adrenal disease","classifications":[156]}],"children":[],"genes":[{"symbol":"EPAS1","name":"endothelial PAS domain protein 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22931260[PMID]","hgnc":"3374","ensembl":"ENSG00000116016","omim":"603349","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22931260[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}