{"orpha":90030,"name":"Hemolytic anemia due to glutathione reductase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies characterized by nearly complete absence of glutathione reductase activity in erythrocytes. Most of the patients present with favism and early-onset cataracts. Severe neonatal jaundice associated with unconjugated hyperbilirubinemia has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90030/","orphanet_url":"https://www.orpha.net/en/disease/detail/90030","names":{"fr":{"name":"Anémie hémolytique par déficit en glutathion réductase","definition":"L'anémie hémolytique due à un déficit en glutathion réductase (GR) est caractérisée par une absence presque totale d'activité GSR dans les érythocytes."},"de":{"name":"Hämolytische Anämie durch Glutathion-Reduktase-Mangel","definition":"Eine seltene hämolytische Anämie aufgrund von Anomalien des Hexosemonophosphat-Shunts und des Glutathion-Stoffwechsels, die durch ein fast vollständiges Fehlen der Glutathion-Reduktase-Aktivität in den Erythrozyten gekennzeichnet ist. Die meisten Patienten leiden unter Favismus und früh einsetzender Katarakt. Es wurde auch über schwere Neugeborenengelbsucht in Verbindung mit unkonjugierter Hyperbilirubinämie berichtet."},"es":{"name":"Anemia hemolítica por deficiencia de glutatión reductasa","definition":"Es una anemia hemolítica poco frecuente debida a anomalías de la vía de las hexosas monofosfato y del metabolismo del glutatión. Está caracterizada por la ausencia casi total de la actividad de la glutatión reductasa eritrocitaria. La mayoría de los pacientes presenta favismo y cataratas de inicio precoz. También se ha descrito ictericia neonatal grave asociada a hiperbilirrubinemia no conjugada."},"it":{"name":"Anemia emolitica da deficit di glutatione reduttasi"},"nl":{"name":"Hemolytische anemie door deficiëntie van glutathionreductase","definition":"Een zeldzame hemolytische anemie door anomalieën van hexosemonofosfaatshunt en glutathionmetabolisme, gekenmerkt door nagenoeg volledige afwezigheid van glutathionreductase-activiteit in rode bloedcellen. De meeste patiënten presenteren zich met favisme en vroeg optredend cataract. Ernstige neonatale geelzucht geassocieerd met niet-geconjugeerde hyperbilirubinemie werd ook reeds gerapporteerd."},"pt":{"name":"Anemia hemolítica por deficiência de glutationa reductase"},"pl":{"name":"Niedokrwistość hemolityczna z powodu niedoboru reduktazy glutationu"},"cs":{"name":"Hemolytická anémie způsobená deficitem glutation reduktázy"},"uk":{"name":"Гемолітична анемія внаслідок дефіциту глутатіонредуктази","definition":"Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes."},"zh":{"name":"谷胱甘肽还原酶缺乏所致溶血性贫血"},"tr":{"name":"Glutatyon redüktaz eksikliğine bağlı hemolitik anemi"}},"xrefs":[{"source":"OMIM","code":"618660","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":"286285535"},{"source":"MONDO","code":"0019531","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231513","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":[{"symbol":"GSR","name":"glutathione-disulfide reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17185460[PMID]","hgnc":"4623","ensembl":"ENSG00000104687","omim":"138300","loci":["8p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"947404[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_947404[PMID]"}],"phenotypes":null}