{"orpha":86817,"name":"Hemolytic anemia due to adenylate kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86817/","orphanet_url":"https://www.orpha.net/en/disease/detail/86817","names":{"fr":{"name":"Anémie hémolytique par déficit en adénylate kinase","definition":"Anémie hémolytique rare par anomalie du métabolisme nucléotidique de l'érythrocyte, caractérisée par une anémie hémolytique chronique non sphérocytaire modérée à sévère pouvant nécessiter des transfusions sanguines régulières et/ou une splénectomie et pouvant être associée à des troubles psychomoteurs."},"de":{"name":"Hämolytische Anämie durch Adenylat-Kinase-Mangel","definition":"Eine seltene hämolytische Anämie aufgrund einer Störung des Erythrozyten-Nukleotid-Stoffwechsels, die durch eine mäßige bis schwere chronische nicht-sphärozytäre hämolytische Anämie gekennzeichnet ist, die regelmäßige Bluttransfusionen und/oder eine Splenektomie erfordern kann und mit psychomotorischen Beeinträchtigungen einhergehen kann."},"es":{"name":"Anemia hemolítica por deficiencia de adenilato quinasa","definition":"La anemia hemolítica debida a la deficiencia de adenilato quinasa, es una anemia hemolítica poco frecuente debida a un trastorno del metabolismo de los nucleótidos en los eritrocitos. Está caracterizada por anemia hemolítica crónica no esferocítica de moderada a grave, que puede requerir transfusiones sanguineas regulares, y/o esplenomegalia. Puede estar asociada a discapacidad psicomotora."},"it":{"name":"Anemia emolitica da deficit di adenilato chinasi","definition":"L'anemia emolitica de deficit di adenilato chinasi è un'anemia emolitica rara, causata da un disturbo del metabolismo di un nucleotide eritrocitario. È caratterizzata da anemia emolitica non sferocitica cronica grave, che può richiedere trasfusioni di sangue regolari e/o splenectomia. Può associarsi a deficit psicomotorio."},"nl":{"name":"Hemolytische anemie door adenylaatkinasedeficiëntie","definition":"Hemolytische anemie als gevolg van adenylaatkinasedeficiëntie is een zeldzame hemolytische anemie die het gevolg is van een stoornis van het nucleotidemetabolisme in rode bloedcellen, die gekarakteriseerd wordt door matige tot ernstige chronische, niet-sferocytische hemolytische anemie (die mogelijk regelmatige bloedtransfusies vereist) en/of splenectomie, en die kan geassocieerd zijn met psychomotorische stoornissen."},"pt":{"name":"Anemia hemolítica por deficiência de adenilato cinase"},"pl":{"name":"Niedokrwistość hemolityczna z powodu niedoboru kinazy adenylanowej"},"cs":{"name":"Hemolytická anémie způsobená deficitem adenylátkinázy"},"uk":{"name":"Гемолітична анемія внаслідок дефіциту аденілаткінази","definition":"Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment."},"zh":{"name":"腺苷酸激酶缺乏所致溶血性贫血"},"tr":{"name":"Adenilat kinaz eksikliğine bağlı hemolitik anemi"}},"xrefs":[{"source":"OMIM","code":"612631","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"216674421"},{"source":"MONDO","code":"0012967","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567228","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675459","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98374,"name":"Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder","classifications":[156,194]}],"children":[],"genes":[{"symbol":"AK1","name":"adenylate kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9432020[PMID]_10233365[PMID]","hgnc":"361","ensembl":"ENSG00000106992","omim":"103000","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"10233365[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10233365[PMID]"}],"phenotypes":null}