{"orpha":93610,"name":"Distal renal tubular acidosis with anemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["dRTA with anemia"],"definition":"A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93610/","orphanet_url":"https://www.orpha.net/en/disease/detail/93610","names":{"fr":{"name":"Acidose tubulaire rénale distale avec anémie","synonyms":["ATRd avec anémie","dRTA avec anémie"],"definition":"Forme rare d'acidose tubulaire rénale distale caractérisée par un défaut d'acidification rénale et une anémie hémolytique héréditaire."},"de":{"name":"Azidose, renale tubuläre, mit Anämie","synonyms":["dRTA mit Anämie"],"definition":"Eine seltene Form der distalen renalen tubulären Azidose, die durch einen Defekt der renalen Azidifikation und eine hereditäre hämolytische Anämie gekennzeichnet ist."},"es":{"name":"Acidosis tubular renal distal con anemia","synonyms":["dRTA con anemia"],"definition":"Es una forma poco frecuente de acidosis tubular renal distal caracterizada por un defecto de acidificación renal y anemia hemolítica hereditaria."},"it":{"name":"Acidosi tubulare renale distale con anemia","synonyms":["dRTA con anemia"]},"nl":{"name":"Distale renale tubulaire acidose met anemie","synonyms":["dRTA met anemie"],"definition":"Een zeldzame vorm van distale renale tubulaire acidose, gekenmerkt door een defect van renale acidificatie en erfelijke hemolytische anemie."},"pt":{"name":"Acidose tubular renal distal com anemia","synonyms":["dRTA com anemia"],"definition":"Forma rara de acidose tubular renal distal caracterizada por defeito na acidificação renal e anemia hemolítica hereditária."},"pl":{"name":"Kwasica dystalnych kanalików nerkowych z niedokrwistością","synonyms":["dRTA z niedokrwistością"],"definition":"Rzadka postać kwasicy dystalnych kanalików nerkowych charakteryzująca się defektem procesu zakwaszania moczu oraz dziedziczną niedokrwistością hemolityczną."},"cs":{"name":"Distální renální tubulární acidóza s anémií","synonyms":["dRTA s anémií"]},"uk":{"name":"Дистальний нирковий тубулярний ацидоз з анемією","synonyms":["dRTA з анемією"],"definition":"A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia."},"zh":{"name":"远端肾小管酸中毒伴贫血","synonyms":["dRTA伴贫血"],"definition":"远端肾小管性酸中毒（dRTA）伴贫血是远端肾小管性酸中毒（dRTA；见该词条）的一种非常罕见的类型，其特征是肾泌氢障碍和遗传性溶血性贫血。"},"tr":{"name":"Anemi ile seyreden distal renal tübüler asidoz","synonyms":["Anemi ile seyreden dRTA"]}},"xrefs":[{"source":"OMIM","code":"611590","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.44","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012700","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680287","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12354","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":18,"name":"Distal renal tubular acidosis","classifications":[156,188,233]},{"orpha":98364,"name":"Rare constitutional hemolytic anemia due to a red cell membrane anomaly","classifications":[156,194]}],"children":[],"genes":[{"symbol":"SLC4A1","name":"solute carrier family 4 member 1 (Diego blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11027","ensembl":"ENSG00000004939","omim":"109270","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}