{"orpha":766,"name":"Hemolytic anemia due to red cell pyruvate kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pyruvate kinase deficiency of erythrocytes"],"definition":"A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-766/","orphanet_url":"https://www.orpha.net/en/disease/detail/766","names":{"fr":{"name":"Anémie hémolytique par déficit en pyruvate kinase du globule rouge","synonyms":["Déficit en pyruvate kinase érythrocytaire"],"definition":"Maladie métabolique génétique rare due à un déficit en pyruvate kinase (PK), caractérisée par un degré variable d'anémie hémolytique chronique non sphérocytaire entraînant des manifestations cliniques variables allant d'une anémie fatale à la naissance jusqu'à une hémolyse totalement compensée sans anémie apparente."},"de":{"name":"Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase","synonyms":["Pyruvatkinase-Mangel der Erythrozyten"],"definition":"Eine seltene genetisch bedingte Stoffwechselstörung, die auf einem Pyruvatkinase-Mangel beruht und durch eine chronische, nicht-sphärozytische hämolytische Anämie unterschiedlichen Schweregrades mit verschiedenen klinischen Manifestationen gekennzeichnet ist, die von einer tödlichen Anämie im Neugeborenenalter bis zu einer vollständig kompensierten Hämolyse ohne manifeste Anämie reichen."},"es":{"name":"Anemia hemolítica por deficiencia de piruvato quinasa de los glóbulos rojos","definition":"Es un trastorno hereditario poco frecuente del metabolismo eritrocitario que obedece a una deficiencia de la enzima piruvatocinasa (PK). Se caracteriza por anemia hemolítica no esferocítica crónica y de intensidad variable que puede ir desde una hemólisis totalmente compensada y sin anemia aparente, hasta una anemia muy grave, de inicio neonatal, que puede comportar la muerte."},"it":{"name":"Anemia emolitica da deficit di piruvato chinasi negli eritrociti","synonyms":["Deficit di piruvato chinasi negli eritrociti"],"definition":"Si tratta di una malattia metabolica genetica rara, causata da un deficit di piruvato chinasi, caratterizzata da anemia emolitica non sferocitica cronica di grado variabile. Il quadro clinico va dall'anemia fatale alla nascita, fino all'emolisi completamente compensata in assenza di anemia apparente."},"nl":{"name":"Hemolytische anemie door deficiëntie van pyruvaatkinase in rode bloedcellen","synonyms":["Pyruvaatkinasedeficiëntie van erytrocyten"],"definition":"Een zeldzame, genetische metabole aandoening door deficiëntie van pyruvaatkinase, gekarakteriseerd door variabele gradaties van chronische niet-sferocytaire hemolytische anemie, wat resulteert in variabele klinische manifestaties gaande van fatale anemie bij de geboorte tot een volledig gecompenseerde hemolyse zonder herkenbare anemie."},"pt":{"name":"Anemia hemolítica por deficiência de piruvato cinase dos eritrócitos","synonyms":["Deficiência de piruvato cinase dos eritrócitos"],"definition":"A anemia hemolítica por deficiência de piruvato cinase (PK) eritrocitária é uma doença metabólica caracterizada por grau variável de anemia hemolítica não esferocítica crónica."},"pl":{"name":"Niedokrwistość hemolityczna spowodowana niedoborem kinazy pirogronianowej czerwonych krwinek","synonyms":["Niedobó kinazy pirogronowej erytrocytów"]},"cs":{"name":"Hemolytická anémie způsobená deficitem pyruvátkinázy červených krvinek","synonyms":["Deficit pyruvátkinázy erytrocytů"]},"uk":{"name":"Гемолітична анемія внаслідок дефіциту піруваткінази еритроцитів","synonyms":["Дефіцит піруваткінази еритроцитів"],"definition":"A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia."},"zh":{"name":"红细胞丙酮酸激酶缺乏所致溶血性贫血","synonyms":["红细胞丙酮酸激酶缺陷"]},"tr":{"name":"Kırmızı hücre piruvat kinaz eksikliğine bağlı hemolitik anemi","synonyms":["Eritrositlerin piruvat kinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"266200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"336454961"},{"source":"MONDO","code":"0009950","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340968","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7514","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98372,"name":"Hemolytic anemia due to a disorder of glycolytic enzymes","classifications":[156,194]},{"orpha":254746,"name":"Pyruvate metabolism disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"PKLR","name":"pyruvate kinase L/R","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15953013[PMID]_16704447[PMID]","hgnc":"9020","ensembl":"ENSG00000143627","omim":"609712","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.1,"area":"Specific population","status":"Validated","source":"10828047[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2014[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.96,"area":"Specific population","status":"Validated","source":"1511997[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-02","source":"463878[PMID]_15982340[PMID]","terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004870","label":"Chronic hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025109","label":"Reduced red cell pyruvate kinase level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004804","label":"Congenital hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003452","label":"Increased circulating iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001877","label":"Abnormal erythrocyte morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011273","label":"Anisocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012463","label":"Elevated transferrin saturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004447","label":"Poikilocytosis","frequency":"Occasional (29-5%)","criteria":null}]}}