{"orpha":466026,"name":"Class I glucose-6-phosphate dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Class I G6PD deficiency","Severe hemolytic anemia due to G6PD deficiency"],"definition":"A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466026/","orphanet_url":"https://www.orpha.net/en/disease/detail/466026","names":{"fr":{"name":"Déficit en glucose-6-phosphate déshydrogénase classe I","synonyms":["Anémie hémolytique sévère par déficit en G6PD","Déficit en G6PD classe I"],"definition":"Anémie hémolytique constitutionnelle rare due à un trouble enzymatique caractérisé par un déficit sévère en glucose-6-phosphate déshydrogénase (typiquement <10 % d'activité enzymatique résiduelle) associé à une anémie hémolytique chronique non sphérocytaire de sévérité très variable. Les patients risquent de développer un ictère néonatal (pouvant conduire à un ictère nucléaire), des calculs biliaires, une réticulocytose et une splénomégalie et sont plus sensibles aux agents oxydants qui provoquent des épisodes d'hémolyse aiguë. Le favisme, qui décrit l'apparition d'une réaction hémolytique aiguë en réponse à l'ingestion de fèves, est plus fréquent chez les nourrissons et les jeunes enfants."},"de":{"name":"Glukose-6-Phosphat-Dehydrogenase-Mangel der Klasse I","synonyms":["Klasse-I-G6PD-Mangel","Schwere hämolytische Anämie durch G6PD-Mangel"],"definition":"Eine seltene konstitutionelle hämolytische Anämie, die durch einen schweren Glukose-6-Phosphat-Dehydrogenase-Mangel (typischerweise <10 % Restaktivität des Enzyms) verursacht wird und mit einer chronischen nicht-sphärozytären hämolytischen Anämie von sehr unterschiedlichem Schweregrad einhergeht. Die Patienten haben ein Risiko für Neugeborenenikterus (der zu Kernikterus führen kann), Gallensteine, Retikulozytose und Splenomegalie. Sie haben eine erhöhte Empfindlichkeit gegenüber Oxidationsmitteln, die akute Hämolysepisoden verursachen. Favismus, d.h. das Auftreten einer akuten hämolytischen Reaktion als Reaktion auf den Verzehr von Fava-Bohnen, wird häufiger bei Säuglingen und Kleinkindern beobachtet."},"es":{"name":"Deficiencia de glucosa-6-fosfato deshidrogenasa clase I","synonyms":["Anemia hemolítica grave por deficiencia de G6PD","Deficiencia de G6PD clase I"],"definition":"Es una anemia hemolítica constitucional poco frecuente debida a un trastorno enzimático caracterizado por deficiencia grave de glucosa-6-fosfato deshidrogenasa (típicamente <10% de actividad enzimática residual) asociada a anemia hemolítica crónica no esferocítica de gravedad muy variable. Los pacientes corren el riesgo de desarrollar ictericia neonatal (que puede conducir a querníctero), cálculos biliares, reticulocitosis y esplenomegalia, y presentan una mayor susceptibilidad a los agentes oxidantes, que desencadenan episodios de hemólisis aguda. El favismo, que describe la aparición de una reacción hemolítica aguda en respuesta a la ingestión de habas, es más común en lactantes y niños pequeños."},"it":{"name":"Deficit di glucosio-6-fosfato deidrogenasi di classe I","definition":"Si tratta di un'anemia emolitica costituzionale rara, secondaria ad un'anomalia enzimatica, caratterizzata da un deficit grave di glucosio-6-fosfato deidrogenasi (in genere con attività enzimatica residua <10%), associato ad anemia emolitica cronica non sferocitica di gravità molto variabile. I pazienti sono predisposti all'ittero neonatale (che può esitare nel kernittero), ai calcoli biliari, alla reticolocitosi e alla splenomegalia; sono inoltre maggiormente sensibili agli agenti ossidanti, che causano episodi di emolisi acuta. Il favismo, che consiste in iuna reazione emolitica acuta in risposta all'ingestione delle fave, è più comune nei neonati e nei bambini più piccoli."},"nl":{"name":"Deficiëntie van glucose-6-fosfaatdehydrogenase klasse 1","synonyms":["Ernstige hemolytische anemie door G6PD-deficiëntie","G6PD-deficiëntie klasse 1"],"definition":"Een zeldzame constitutionele hemolytische anemie als gevolg van een enzymopathie, gekenmerkt door ernstige deficiëntie van glucose-6-fosfaatdehydrogenase (doorgaans minder dan 10% resterende enzymactiviteit) geassocieerd met chronische niet-sferocytaire hemolytische anemie met zeer variabele ernst. Patiënten lopen risico op ontwikkeling van neonatale geelzucht (die mogelijk leidt tot kernicterus), galstenen, en reticulocytose en splenomegalie. Ze hebben ook een verhoogde vatbaarheid voor oxiderende agentia die episodes van acute hemolyse uitlokken. Favisme, dat optreden van een acute hemolytische reactie als respons op inname van tuinbonen beschrijft, komt vaker voor bij zuigelingen en jonge kinderen."},"pt":{"name":"Défice da glicose-6-fosfato desidrogenase classe I","definition":"Anemia hemolítica constitucional rara devido a um distúrbio enzimático caracterizado por deficiência grave de glicose-6-fosfato desidrogenase (normalmente <10% da atividade residual da enzima) associada a anemia hemolítica não esferocítica crónica de gravidade muito variável. Os doentes correm o risco de desenvolver icterícia neonatal (possível kernicterus), cálculos biliares, reticulocitose e esplenomegalia. Apresentam uma suscetibilidade aumentada a agentes oxidantes, desencadeiam episódios de hemólise aguda. O favismo, que descreve a ocorrência de uma reação hemolítica aguda em resposta à ingestão de favas, é mais comum em lactentes e crianças pequenas."},"pl":{"name":"Niedobór dehydrogenazy glukozo-6-fosfatazy klasy I","synonyms":["Ciężka niedokrwistość hemolityczna spowodowana niedoborem G6PD","Niedobór G6PD klasy I"]},"cs":{"name":"Deficit glukóza-6-fosfát dehydrogenázy, třída I","synonyms":["Class I G6PD deficiency","Severe hemolytic anemia due to G6PD deficiency","Deficit G6PD třída I","Těžká hemolytická anémie způsobená deficitem G6PD"]},"uk":{"name":"Дефіцит глюкозо-6-фосфатдегідрогенази I класу","synonyms":["Дефіцит G6PD класу I","Тяжка гемолітична анемія внаслідок дефіциту G6PD"],"definition":"A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children."},"zh":{"name":"I类葡萄糖-6-磷酸脱氢酶缺乏症","synonyms":["G6PD缺乏导致的严重溶血性贫血"]},"tr":{"name":"Sınıf I glikoz-6-fosfat dehidrojenaz eksikliği","synonyms":["Sınıf I G6PD eksikliği","G6PD eksikliğine bağlı ağır hemolitik anemi"]}},"xrefs":[{"source":"OMIM","code":"300908","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010480","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10480","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272056","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6520","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]}],"children":[],"genes":[{"symbol":"G6PD","name":"glucose-6-phosphate dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7577654[PMID]","hgnc":"4057","ensembl":"ENSG00000160211","omim":"305900","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20200584[PMID]"}],"phenotypes":null}