{"orpha":99135,"name":"6-phosphogluconate dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99135/","orphanet_url":"https://www.orpha.net/en/disease/detail/99135","names":{"fr":{"name":"Déficit en 6-phosphogluconate déshydrogénase","definition":"Anémie hémolytique constitutionnelle rare caractérisée par une faible activité de la 6-phosphogluconate déshydrogénase dans les érythrocytes, qui se manifeste sur le plan clinique par une anémie hémolytique chronique non sphérocytaire bien compensée et des périodes hémolytiques transitoires avec ictère."},"de":{"name":"6-Phosphogluconat-Dehydrogenase-Mangel","definition":"Eine seltene konstitutionelle hämolytische Anämie, die durch eine niedrige 6-Phosphogluconat-Dehydrogenase-Aktivität in den Erythrozyten gekennzeichnet ist und sich klinisch durch eine gut kompensierte chronische nicht sphärozytäre hämolytische Anämie und vorübergehende hämolytische Phasen mit Gelbsucht äußert."},"es":{"name":"Deficiencia de 6-fosfogluconato deshidrogenasa","definition":"Es una anemia hemolítica constitucional poco frecuente caracterizada por una reducción de la actividad de la 6-fosfogluconato deshidrogenasa eritrocitaria que se manifiesta clínicamente con anemia hemolítica no esferocítica crónica bien compensada y períodos de hemólisis transitoria con ictericia."},"it":{"name":"Deficit di 6-fosfogluconato deidrogenasi","definition":"È un'anemia emolitica costituzionale rara, caratterizzata da una riduzione dell'attività della 6-fosfogluconato deidrogenasi negli eritrociti, che esordisce, dal punto di vista clinico, con un'anemia emolitica non sferocitica cronica ben compensata e con episodi emolitici transitori associati ad ittero."},"nl":{"name":"6-fosfogluconaatdehydrogenasedeficiëntie","definition":"Een zeldzame, constitutionele hemolytische anemie gekarakteriseerd door een lage activiteit van 6-fosfogluconaatdehydrogenase in de erytrocyten, die zich klinisch manifesteert met een goed gecompenseerde chronische niet-sferocytaire hemolytische anemie en transiënte hemolytische periodes met geelzucht."},"pt":{"name":"Deficiência de 6-fosfogluconato desidrogenase"},"pl":{"name":"Niedobór dehydrogenazy 6-fosfoglukonianu"},"cs":{"name":"Deficit 6-fosfoglukonát dehydrogenázy"},"uk":{"name":"Дефіцит 6-фосфоглюконатдегідрогенази","definition":"A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice."},"zh":{"name":"6-磷酸葡糖酸脱氢酶缺乏","definition":"该病是一种罕见的溶血性贫血，其特征是红细胞中6-磷酸葡萄糖酸脱氢酶活性低，临床表现为可被代偿的慢性非球形溶血性贫血和一过性溶血伴黄疸。"},"tr":{"name":"6-fosfoglukonat dehidrojenaz eksikliği"}},"xrefs":[{"source":"OMIM","code":"619199","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"99964622"},{"source":"MONDO","code":"0020457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5543091","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98370,"name":"Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies","classifications":[156,194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}