{"orpha":247511,"name":"Autosomal dominant secondary erythrocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant secondary polycythemia"],"definition":"A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247511/","orphanet_url":"https://www.orpha.net/en/disease/detail/247511","names":{"fr":{"name":"Erythrocytose secondaire autosomique dominante","synonyms":["Polycythémie secondaire autosomique dominante","Polyglobulie secondaire autosomique dominante"],"definition":"Maladie hématologique génétique rare caractérisée par une augmentation des taux sériques d'hémoglobine, d'hématocrite et de masse érythrocytaire, associée à des taux sériques d'érythropoïétine normaux ou élevés, survenant chez plusieurs membres d'une même famille et transmise selon le mode autosomique dominant."},"de":{"name":"Erythrozytose, sekundäre, autosomal-dominante","synonyms":["Polyzythämie, sekundäre, autosomal-dominante"]},"es":{"name":"Eritrocitosis secundaria autosómica dominante","synonyms":["Policitemia secundaria autosómica dominante"],"definition":"Es una enfermedad genética hematológica, poco frecuente, caracterizada por valores elevados de hemoglobina sérica, hematocrito y masa eritrocitaria, asociados con niveles séricos elevados o inadecuadamente normales de eritropoyetina, que se presentan en varios miembros de una familia y que siguen un modo de herencia autosómico dominante."},"it":{"name":"Eritrocitosi secondaria autosomica dominante","synonyms":["Policitemia secondaria autosomica dominante"],"definition":"La policitemia secondaria autosomica dominante è una malattia ematologica genetica rara, caratterizzata da un aumento dei livelli di emoglobina, ematocrito e massa eritrocitaria nel siero, associati a livelli elevati o anomali di eritropoietina nel siero, che si manifestano in più membri della stessa famiglia. La trasmissione della malattia è autosomica dominante."},"nl":{"name":"Autosomaal dominante secundaire erytrocytose","synonyms":["Autosomaal dominante secundaire polycytemie"],"definition":"Een zeldzame, genetische, hematologische ziekte, gekarakteriseerd door een toename van hemoglobine in serum, van hematocriet en van erytrocytmassa, geassocieerd met verhoogde of ongepast normale gehaltes van erytropoëtine in serum, voorkomend bij verscheidene leden van een familie en met autosomaal dominante overerving."},"pt":{"name":"Policitémia secundária autossómica dominante"},"pl":{"name":"Autosomalna dominująca wtórna nadkrwistość","synonyms":["Autosomalna dominująca wtórna erytrocytoza"]},"cs":{"name":"Autozomálně dominantní sekundární polycytémie","synonyms":["Autozomálně dominantní sekundární erytrocytóza"]},"uk":{"name":"Аутосомно-домінантна вторинна поліцитемія","synonyms":["Аутосомно-домінантний вторинний еритроцитоз"],"definition":"A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance."},"zh":{"name":"常染色体显性遗传性继发性红细胞增多症","synonyms":["常染色体显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，其特征是血清血红蛋白、红细胞压积和红细胞质量增加，与红细胞生成素血清水平升高或异常相关，发生于同一家族的不同家庭成员中，呈常染色体显性遗传。"},"tr":{"name":"Otozomal dominant sekonder polisitemi","synonyms":["Otozomal baskın sekonder eritrositoz"]}},"xrefs":[{"source":"OMIM","code":"609820","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611783","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617907","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617980","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617981","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"0016599","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190864","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":"EPAS1","name":"endothelial PAS domain protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"18184961[PMID]_24115288[PMID]","hgnc":"3374","ensembl":"ENSG00000116016","omim":"603349","loci":["2p21"]},{"symbol":"EPO","name":"erythropoietin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"29514032[PMID]","hgnc":"3415","ensembl":"ENSG00000130427","omim":"133170","loci":["7q22.1"]},{"symbol":"EGLN1","name":"egl-9 family hypoxia inducible factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16407130[PMID]_24115288[PMID]","hgnc":"1232","ensembl":"ENSG00000135766","omim":"606425","loci":["1q42.2"]},{"symbol":"HBA1","name":"hemoglobin subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34440325[PMID]","hgnc":"4823","ensembl":"ENSG00000206172","omim":"141800","loci":["16p13.3"]},{"symbol":"HBA2","name":"hemoglobin subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34440325[PMID]","hgnc":"4824","ensembl":"ENSG00000188536","omim":"141850","loci":["16p13.3"]},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34440325[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"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}