{"orpha":238557,"name":"Chuvash erythrocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["VHL-related polycythemia","Von Hippel-Lindau-related erythrocytosis","VHL-related erythrocytosis","Chuvash polycythemia","Von Hippel-Lindau-related polycythemia"],"definition":"Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238557/","orphanet_url":"https://www.orpha.net/en/disease/detail/238557","names":{"fr":{"name":"Erythrocytose de Tchouvachie","synonyms":["Erythrocytose tchouvache","Polycythémie associée à von Hippel-Lindau","Polycythémie de Tchouvachie","Erythrocytose associée à von Hippel-Lindau","Erythrocytose associée à VHL","Erythrocytose Chuvash","Polycythémie Chuvash","Polyglobulie Chuvash","Polycythémie tchouvache","Polyglobulie de Tchouvachie","Polyglobulie tchouvache","Polycythémie associée à VHL","Polyglobulie associée à von Hippel-Lindau","Polyglobulie associée à VHL"],"definition":"Un maladie génétique rare et une polycythémie congénitale secondaire caractérisée par une augmentation de l'hématocrite et du taux sérique d'hémoglobine et d'érythropoïétine, avec une affinité normale pour l'oxygène. Elle se manifeste habituellement par une céphalée, des vertiges, une dyspnée et/ou une pléthore. Les patients présentent un risque accru d'hémorragie, de thrombose et de décès précoce."},"de":{"name":"Chuvash-Erythrozytose","synonyms":["Chuvash-Polyzythämie","VHL-assoziierte Polyzythämie","VHL-assoziierte Erythrozytose","Von-Hippel-Lindau-assoziierte Polyzythämie","Von-Hippel-Lindau-assoziierte Erythrozytose"]},"es":{"name":"Eritrocitosis de Chuvash","synonyms":["Policitemia asociada al gen Von Hippel-Lindau","Eritrocitosis asociada al gen VHL","Policitemia de Chuvash","Policitemia asociada al gen VHL","Eritrocitosis asociada al gen Von Hippel-Lindau"],"definition":"La eritrocitosis de Chuvash, es un trastorno de policitemia secundaria congénita, genético y poco frecuente, caracterizado por un aumento de los niveles séricos de hemoglobina, hematocrito y eritropoyetina y un valor normal de afinidad por el oxígeno, que generalmente se manifiesta con cefalea, mareo, disnea y/o plétora. Los afectados presentan un mayor riesgo de hemorragia, trombosis y muerte prematura."},"it":{"name":"Eritrocitosi di Chuvash","synonyms":["Policitemia correlata a VHL","Eritrocitosi correlata a VHL","Eritrocitosi correlata a Von Hippel-Lindau","Policitemia correlata a Von Hippel-Lindau","Policitemia di Chuvash"],"definition":"L'eritrocitosi di Chuvash è una forma genetica rara di policitemia secondaria congenita, caratterizzata da un aumento dei livelli di emoglobina, dell'ematocrito e dell'eritropoietina nel siero e da una normale affinità per l'ossigeno. Di solito esordisce con cefalea, vertigine, dispnea e/o pletora. I pazienti sono a rischio di emorragia, trombosi e morte prematura."},"nl":{"name":"Chuvash-erytrocytose","synonyms":["Von Hippel-Lindau-gerelateerde erytrocytose","Chuvash-polycytemie","VHL-gerelateerde polycytemie","VHL-gerelateerde erytrocytose","Von Hippel-Lindau-gerelateerde polycytemie"],"definition":"Chuvash-erytrocytose is een zeldzame, genetische, congenitale secundaire polycytemie die gekarakteriseerd wordt door verhoogde gehaltes hemoglobine, hematocriet en erytropoëtine in het serum en een normale zuurstofaffiniteit, en die zich meestal manifesteert met hoofdpijn, duizeligheid, dyspneu en/of hypervolemie. Patiënten vertonen een verhoogd risico op hemorragie, trombose en vroegtijdig overlijden."},"pt":{"name":"Eritrocitose de Chuvash"},"pl":{"name":"Nadkrwistość Chuvash","synonyms":["Nadkrwietość zależna od zespołu von Hippela i Lindau'a","Policytemia Chuvash"],"definition":"*Nadkrwistość Chuvash jest rzadką, genetycznie uwarunkowaną policytemią wtórną, która charakteryzuje się podwyższonym poziomem hemoglobiny, hematokrytu i erytropoetyny w surowicy oraz prawidłowym wiązaniem tlenu. Zwykle objawia się bólami i zawrotami głowy, dusznością i/lub przewodnieniem. Pacjenci narażeni są na zwiększone ryzyko krwotoku, zakrzepicy i przedwczesnej śmierci."},"cs":{"name":"Čuvašská erytrocytóza","synonyms":["Čuvašská polycytémie"]},"uk":{"name":"Чуваський еритроцитоз","synonyms":["Чуваська поліцитемія","Залежна від фон Гіппеля-Ліндау поліцитемія"],"definition":"Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death."},"zh":{"name":"楚瓦什红细胞增多症","synonyms":["希佩尔林道依赖性红细胞增多症"],"definition":"楚瓦什红细胞增多症是一种罕见的遗传性先天性继发性红细胞增多症，其特征是血红蛋白、红细胞压积和红细胞生成素血清水平升高，氧亲和力正常，通常表现为头痛、头晕、呼吸困难和/或过多。患者出血、血栓形成和早期死亡的风险增加。"},"tr":{"name":"Chuvash eritrositoz","synonyms":["Chuvash polisitemi","Von Hippel-Lindau-bağımlı polisitemi"]}},"xrefs":[{"source":"OMIM","code":"263400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A80.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1449684939"},{"source":"MONDO","code":"0009892","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749274","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":238536,"name":"Congenital secondary erythrocytosis","classifications":[156,194]}],"children":[],"genes":[{"symbol":"VHL","name":"von Hippel-Lindau tumor suppressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11987242[PMID]_24115288[PMID]","hgnc":"12687","ensembl":"ENSG00000134086","omim":"608537","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}