{"orpha":90042,"name":"Primary familial and congenital erythrocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary hereditary and congenital polycythemia","Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation","PFCE","PFCP","Primary hereditary and congenital erythrocytosis","Primary familial and congenital polycythemia","Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation","Primary familial and congenital polycythemia due to erythropoietin receptor mutation","Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation"],"definition":"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90042/","orphanet_url":"https://www.orpha.net/en/disease/detail/90042","names":{"fr":{"name":"Erythrocytose primaire congénitale familiale","synonyms":["Erythrocytose primaire congénitale héréditaire par mutation du récepteur de l'érythropoïétine","Polyglobulie primaire congénitale héréditaire","Polyglobulie primaire congénitale familiale par mutation du récepteur de l'érythropoïétine","Polyglobulie primaire congénitale héréditaire par mutation du récepteur de l'érythropoïétine","Polycythémie primaire congénitale familiale par mutation du récepteur de l'érythropoïétine","Polycythémie primaire congénitale héréditaire par mutation du récepteur de l'érythropoïétine","Polyglobulie primaire congénitale familiale","Polycythémie primaire congénitale familiale","Erythrocytose primaire congénitale héréditaire","Polycythémie primaire congénitale héréditaire","Erythrocytose primaire congénitale familiale par mutation du récepteur de l'érythropoïétine"],"definition":"La polycythémie primaire familiale est une maladie hématologique héréditaire due à des mutations du récepteur de l'érythropoïétine (EPO) et caractérisée par une élévation de la masse absolue des globules rouges par leur production non contrôlée en présence de taux faibles d'EPO."},"de":{"name":"Primäre familiäre und kongenitale Erythrozytose","synonyms":["Primäre hereditäre und kongenitale Polyzythämie","Polyzythämie, kongenitale primäre","Primäre familiäre und kongenitale Erythrozytose durch Erythropoietin-Rezeptor-Genmutation","Erythrozytose, kongenitale primäre","PFCP","Primäre familiäre und kongenitale Polyzythämie","Primäre familiäre und kongenitale Polyzythämie durch Erythropoietin-Rezeptor-Genmutation"],"definition":"Die Primäre familiäre Polyzythämie (PFP) ist eine vererbte hämatologische Erkrankung, verursacht durch Mutationen im Gen für den Erythropoetin (EPO)-Rezeptor. Sie ist gekennzeichnet durch erhöhte absolute Erythrozytenmasse als Folge unkontrollierter Erythropoese bei niedrigen EPO-Spiegeln."},"es":{"name":"Eritrocitosis primaria familiar y congénita","synonyms":["Policitemia primaria hereditaria y congénita","Policitemia primaria hereditaria y congénita por una mutación del receptor de la eritropoyetina","Eritrocitosis primaria hereditaria y congénita","Eritrocitosis primaria hereditaria y congénita por una mutación del receptor de la eritropoyetina","Policitemia primaria familiar y congénita por una mutación del receptor de la eritropoyetina","Eritrocitosis primaria familiar y congénita por una mutación del receptor de la eritropoyetina","Policitemia primaria familiar y congénita"],"definition":"La policitemia primaria familiar es un trastorno hematológico hereditario, resultado de mutaciones en el receptor de la eritropoyetina (EPO), que se caracteriza por una elevada masa absoluta de glóbulos rojos causada por una producción incontrolada de glóbulos rojos en presencia de bajos niveles de EPO."},"it":{"name":"Eritrocitosi primitiva familiare e congenita","synonyms":["Policitemia primitiva ereditaria e congenita da mutazione del recettore dell'eritropoietina","PFCE","Policitemia primitiva ereditaria e congenita","Eritrocitosi primitiva ereditaria e congenita","PFCP","Eritrocitosi primitiva familiare e congenita da mutazione del recettore dell'eritropoietina","Policitemia primitiva familiare e congenita","Policitemia primitiva familiare e congenita da mutazione del recettore dell'eritropoietina","Eritrocitosi primitiva ereditaria e congenita da mutazione del recettore dell'eritropoietina"]},"nl":{"name":"Primaire familiale en congenitale erytrocytose","synonyms":["Primaire familiale en congenitale polycytemie door mutatie van erytropoëtinereceptor","Primaire hereditaire en congenitale polycytemie door mutatie van erytropoëtinereceptor","Primaire hereditaire en congenitale polycytemie","Primaire familiale en congenitale erytrocytose door mutatie van erytropoëtinereceptor","Primaire hereditaire en congenitale erytrocytose","PFCE","PFCP","Primaire familiale en congenitale polycytemie","Primaire hereditaire en congenitale erytrocytose door mutatie van erytropoëtinereceptor"],"definition":"Een erfelijke hematologische aandoening door mutaties in erytropoëtine (EPO)-receptor, gekenmerkt door een verhoogd absoluut volume van rode bloedcellen ten gevolge van ongecontroleerde productie van rode bloedcellen in aanwezigheid van lage EPO-gehaltes."},"pt":{"name":"Policitemia primária familiar","definition":"A policitemia familiar primária é uma doença hereditária hematológica resultante de mutações no receptor da eritropoietina (EPO) e é caracterizada por um aumento absoluto da massa de glóbulos vermelhos causada pela produção descontrolada de glóbulos vermelhos na presença de níveis baixos de EPO."},"pl":{"name":"Pierwotna rodzinna policytemia","synonyms":["PFCP","Pierwotna rodzinna i wrodzona policytemia","Pierwotna wrodzona erytrocytoza","Rodzinna erytrocytoza","Wrodzona erytrocytoza z powodu mutacji receptora erytropoetyny","Wrodzona policytemia z powodu mutacji receptora erytropoetyny"]},"cs":{"name":"Primární familiární polycytémie","synonyms":["Familiární erytrocytóza","PFCP","Primární vrozená erytrocytóza","Primární familiární a vrozená polycytémie","Vrozená erytrocytóza způsobená mutací receptoru pro erytropoetin","Vrozená polycytémie způsobená mutací receptoru pro erytropoetin"]},"uk":{"name":"Первинна сімейна поліцитемія","synonyms":["Вроджений еритроцитоз внаслідок мутації рецепторів еритропоетину","Вроджена поліцитемія внаслідок мутації рецепторів еритропоетину","Сімейний еритроцитоз","PFCP","Первинний вроджений еритроцитоз","Первинна сімейна та вроджена поліцитемія"],"definition":"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels."},"zh":{"name":"原发性家族性红细胞增多症","synonyms":["促红素受体突变所致先天性红细胞增多"]},"tr":{"name":"Primer ailesel polisitemi","synonyms":["PFCP","Ailesel eritrositoz","Primer doğumsal eritrositoz","Primer ailesel ve doğumsal polisitemi","Eritropoietin reseptör mutasyonuna bağlı doğumsal polisitemi","Eritropoietin reseptör mutasyonuna bağlı doğumsal eritrositoz"]}},"xrefs":[{"source":"OMIM","code":"133100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A80.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"962836252"},{"source":"MONDO","code":"0007572","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536842","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551637","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9843","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98427,"name":"Erythrocytosis","classifications":[194]},{"orpha":250165,"name":"Genetic polycythemia","classifications":[156]}],"children":[],"genes":[{"symbol":"EPOR","name":"erythropoietin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9359528[PMID]_9192789[PMID]","hgnc":"3416","ensembl":"ENSG00000187266","omim":"133171","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011902","label":"Abnormal hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null}]}}