{"orpha":247378,"name":"Autosomal recessive secondary erythrocytosis not associated with VHL gene","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive secondary erythrocytosis, non-Chuvash type","Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene","Autosomal recessive secondary polycythemia, non-Chuvash type","Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene","Autosomal recessive secondary polycythemia not associated with VHL gene"],"definition":"A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247378/","orphanet_url":"https://www.orpha.net/en/disease/detail/247378","names":{"fr":{"name":"Erythrocytose secondaire autosomique récessive non associée à VHL","synonyms":["Polyglobulie secondaire autosomique récessive type non Chuvash","Erythrocytose secondaire autosomique récessive type non Chuvash","Polyglobulie secondaire autosomique récessive non associée à von Hippel-Lindau","Erythrocytose secondaire autosomique récessive non associée à von Hippel-Lindau","Polycythémie secondaire autosomique récessive non associée à von Hippel-Lindau","Polyglobulie secondaire autosomique récessive non associée à VHL","Erythrocytose secondaire autosomique récessive type non tchouvache","Polycythémie secondaire autosomique récessive non associée à VHL","Polycythémie secondaire autosomique récessive type non tchouvache","Polycythémie secondaire autosomique récessive type non Chuvash"],"definition":"Maladie hématologique héréditaire rare caractérisée par une augmentation du taux d'hémoglobine, du taux d'hématocrite et de la masse érythrocytaire entraînant leur surabondance ou un teint rougeâtre, des céphalées, des vertiges, des acouphènes et une dyspnée d'effort. Dans certains cas, une thrombophlébite et une arthralgie ont également été rapportées."},"de":{"name":"Erythrozytose, sekundäre, autosomal-rezessive, nicht VHL-Gen-assoziierte","synonyms":["Polyzythämie, sekundäre, autosomal-rezessive, Non-Chuvash-Typ","Sekundäre Erythrozytose, autosomal-rezessive, nicht Chuvash-Typ"]},"es":{"name":"Eritrocitosis secundaria autosómica recesiva no asociada al gen VHL","synonyms":["Policitemia secundaria autosómica recesiva tipo no Chuvash","Eritrocitosis secundaria autosómica recesiva no asociada al gen Von Hippel-Lindau","Eritrocitosis secundaria autosómica recesiva tipo no Chuvash","Policitemia secundaria autosómica recesiva no asociada al gen VHL","Policitemia secundaria autosómica recesiva no asociada al gen Von Hippel-Lindau"],"definition":"Es una enfermedad hematológica hereditaria poco frecuente caracterizada por un incremento de la hemoglobina, hematocrito y masa eritrocitaria, que resulta en plétora o cara enrojecida, cefalea, mareo, tinnitus y disnea de esfuerzo. En algunos casos, también se ha descrito tromboflebitis y artralgia."},"it":{"name":"Eritrocitosi secondaria autosomica recessiva non associata al gene VHL","synonyms":["Policitemia secondaria autosomica recessiva non associata al gene von Hippel-Lindau","Eritrocitosi secondaria autosomica recessiva non associata al gene von Hippel-Lindau","Policitemia secondaria autosomica recessiva non associata al gene VHL","Eritrocitosi secondaria autosomica recessiva, tipo non-Chuvash","Policitemia secondaria autosomica recessiva, tipo non-Chuvash"],"definition":"È una malattia ematologica ereditaria rara, caratterizzata da un aumento dell'emoglobina, dell'ematocrito e degli eritrociti, che causa ipervolemia o un aspetto rubicondo, cefalea, vertigini, acufeni e dispnea da sforzo. Sono stati descritti pazienti con tromboflebite ed artralgia."},"nl":{"name":"Autosomaal recessieve secundaire erytrocytose niet geassocieerd met VHL-gen","synonyms":["Autosomaal recessieve secundaire erytrocytose, non-Chuvash-type","Autosomaal recessieve secundaire polycytemie, non-Chuvash-type","Autosomaal recessieve secundaire polycytemie niet geassocieerd met VHL-gen","Autosomaal recessieve secundaire erytrocytose niet geassocieerd met von Hippel-Lindau-gen","Autosomaal recessieve secundaire polycytemie niet geassocieerd met von Hippel-Lindau-gen"],"definition":"Een zeldzame, erfelijke, hematologische ziekte gekarakteriseerd door een toename van hemoglobine, hematocriet en erytrocyten, met als gevolg hypervolemie of rode huidskleur, hoofdpijn, duizeligheid, tinnitus en inspanningsdyspneu. In sommige gevallen werden ook tromboflebitis en artralgie gerapporteerd."},"pt":{"name":"Policitémia secundária autossómica recessiva não associada ao gene VHL"},"pl":{"name":"Autosomalna recesywna wtórna nadkrwistość niezwiązana z genem VHL","synonyms":["Autosomalna recesywna wtórna erytrocytoza niezwiązana z genem VHL","Autosomalna recesywna wtórna erytrocytoza, nie typ Chuvasha","Autosomalna recesywna wtórna nadkrwistość, nie typ Chuvasha"]},"cs":{"name":"Autozomálně recesivní sekundární polycytémie neasociovaná s VHL genem","synonyms":["Autozomálně recesivní sekundární erytrocytóza neasociovaná s VHL genem","Autozomálně recesivní sekundární erytrocytóza, non-Chuvashův typ","Autozomálně recesivní sekundární polycytémie, non-Chuvashův typ"]},"uk":{"name":"Аутосомно-рецесивна вторинна поліцитемія, не повязана з геном VHL","synonyms":["Аутосомно-рецесивний вторинний еритроцитоз, не повязаний з геном VHL","Аутосомно-рецесивний вторинний еритроцитоз, не чуваський тип","Аутосомно-рецесивна вторинна поліцитемія, не чуваського типу"],"definition":"A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported."},"zh":{"name":"VHL基因无关性常染色体隐性遗传性继发性红细胞增多症","synonyms":["VHL基因无关性常染色体隐性遗传性继发性红细胞增多症"],"definition":"一种罕见的遗传性血液病，其特征是血红蛋白、红细胞压积和红细胞质量增加，导致多血症或面容发红、头痛、头晕、耳鸣和劳力性呼吸困难。也有报道部分病例出现血栓性静脉炎和关节痛。"},"tr":{"name":"VHL geni -ilişkili olmayan otozomal resesif sekonder polisitemi","synonyms":["Otozomal çekinik sekonder polisitemi, Chuvash olmayan tip","Otozomal çekinik sekonder eritrositoz, Chuvash olmayan tip","VHL geni ile ilişkili olmayan otozomal çekinik sekonder eritrositoz"]}},"xrefs":[{"source":"ICD-10","code":"D75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A80.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016598","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191076","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":"BPGM","name":"bisphosphoglycerate mutase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34440325[PMID]","hgnc":"1093","ensembl":"ENSG00000172331","omim":"613896","loci":["7q33"]}],"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}