{"orpha":99138,"name":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99138/","orphanet_url":"https://www.orpha.net/en/disease/detail/99138","names":{"fr":{"name":"Anémie hémolytique due à une surproduction d'adénosine désaminase","definition":"L'anémie hémolytique due à une surproduction d'adénosine désaminase est une maladie génétique hématologique rare caractérisée par une légère anémie hémolytique chronique (due à l'activité très élevée de l'adénosine désaminase dans les hématies, causant leur destruction prématurée), un taux élevé de réticulocytes, une splénomégalie et une légère hyperbilirubinémie. Les autres cellules et tissus ne sont pas affectés."},"de":{"name":"Hämolytische Anämie durch erythrozytäre Adenosin-Desaminase-Überproduktion","definition":"Die hämolytische Anämie aufgrund einer Überproduktion von Adenosindesaminase in den Erythrozyten ist eine seltene, genetisch bedingte, hämatologische Erkrankung, die durch eine milde, chronische hämolytische Anämie (aufgrund einer stark erhöhten Adenosindesaminase-Aktivität in den roten Blutkörperchen, die zu deren vorzeitiger Zerstörung führt), eine erhöhte Retikulozytenzahl, Splenomegalie und eine milde Hyperbilirubinämie gekennzeichnet ist. Andere Zellen und Gewebe sind nicht betroffen."},"es":{"name":"Anemia hemolítica por sobreproducción de adenosina deaminasa en eritrocitos","definition":"La anemia hemolítica por sobreproducción de adenosina deaminasa en eritrocitos es una enfermedad genética hematológica poco frecuente caracterizada por anemia hemolítica crónica leve (debida a la actividad de la adenosina deaminasa en los glóbulos rojos extremadamente elevada, que resulta en su destrucción prematura), recuento de reticulocitos elevado, esplenomegalia e hiperbilirrubinemia leve. No están afectadas otras células ni tejidos."},"it":{"name":"Anemia emolitica da eccesso di adenosina deaminasi negli eritrociti","definition":"L'anemia emolitica da eccesso di adenosina deaminasi negli eritrociti è una malattia ematologica genetica rara caratterizzata da anemia emolitica cronica lieve (secondaria ad un'attività molto elevata dell'adenosina deaminasi nei globuli rossi che ne causa la distruzione prematura), aumento dei reticolociti, splenomegalia e lieve iperbilirubinemia. Le altre cellule e i tessuti non sono interessati."},"nl":{"name":"Hemolytische anemie door erytrocytadenosinedeaminase-overproductie","definition":"Hemolytische anemie door overproductie van adenosinedeaminase in erytrocyten is een zeldzame, genetische, hematologische aandoening die gekarakteriseerd wordt door milde, chronische hemolytische anemie (als gevolg van een sterk verhoogde activiteit van adenosinedeaminase in rode bloedcellen, wat leidt tot vroegtijdige vernietiging van deze cellen), een verhoogd aantal reticulocyten, splenomegalie en milde hyperbilirubinemie. Andere cellen en weefsels worden niet getroffen."},"pt":{"name":"Excesso de adenosina deaminase"},"pl":{"name":"Niedokrwistość hemolityczna z powodu nadprodukcji deaminazy adenozyny w erytrocytach"},"cs":{"name":"Hemolytická anémie způsobená nadprodukcí erytrocytární adenosin deaminázy"},"uk":{"name":"Гемолітична анемія внаслідок надмірного вироблення аденозиндезамінази еритроцитів","definition":"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected."},"zh":{"name":"红细胞腺苷脱氨酶生成过多所致溶血性贫血","definition":"该病是是一种罕见的遗传性血液病，由于红细胞腺苷脱氨酶产生过量导致红细胞被过遭破坏而引起溶血性贫血，其特征是轻度慢性溶血性贫血，网织红细胞数量增加，脾肿大和轻度高胆红素血症，其他细胞和组织并不受影响。"},"tr":{"name":"Aşırı eritrosit adenozin deaminaz üretimine bağlı hemolitik anemi"}},"xrefs":[{"source":"ICD-10","code":"D55.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1200845933"},{"source":"MONDO","code":"0020458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340960","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":98374,"name":"Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder","classifications":[156,194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}