{"orpha":90031,"name":"Non-spherocytic hemolytic anemia due to hexokinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in <i>HK1</i>, the gene that encodes red blood cell-specific hexokinase-R.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90031/","orphanet_url":"https://www.orpha.net/en/disease/detail/90031","names":{"fr":{"name":"Anémie hémolytique non sphérocytique par déficit en hexokinase","definition":"L'anémie hémolytique nonsphérocytique, due à un déficit en hexokinase est caractérisée par une hémolyse sévère, débutant chez l'enfant. Dix-sept familles ont été rapportées jusqu'à présent. La transmission est autosomique récessive. Des mutations ont été décrites dans le gène <i>HK1</i>, codant pour l'hexokinase-R, spécifiquement exprimée dans les globules rouges."},"de":{"name":"Anämie, hämolytische, nicht-sphärozytäre durch Hexokinase-Mangel","definition":"Die nicht-sphärozytäre hämolytische Anämie mit Hexokinase-Mangel ist gekennzeichnet durch schwere, im Säuglingsalter beginnende Hämolyse."},"es":{"name":"Anemia hemolítica no esferocítica por deficiencia de hexoquinasa","definition":"Es un tipo de anemia caracterizada por hemólisis grave de inicio en el lactante. Hasta la fecha, se ha descrito en un total de diecisiete familias. La transmisión es autosómica recesiva. Se han descrito mutaciones en <i>HK1</i>, el gen que codifica para la hexocinasa-R específica de glóbulos rojos."},"it":{"name":"Anemia emolitica non sferocitica da deficit di esochinasi"},"nl":{"name":"Niet-sferocytische hemolytische anemie door deficiëntie van hexokinase","definition":"Niet-sferocytische hemolytische anemie door deficiëntie van hexokinase wordt gekenmerkt door ernstige hemolyse die optreedt in de zuigelingentijd. Tot op heden werden zeventien getroffen families gerapporteerd. Transmissie gebeurt autosomaal recessief. Er werden mutaties in <i>HK1</i> beschreven, het gen dat codeert voor hexokinase-R, specifiek voor rode bloedcellen."},"pt":{"name":"Anemia hemolítica não-esferocítica por deficiência de hexocinase"},"pl":{"name":"Niedokrwistość hemolityczna niesferocytowa z powodu niedoboru heksokinazy"},"cs":{"name":"Nesferocytární hemolytická anémie způsobená deficitem hexokinázy"},"uk":{"name":"Несфероцитарна гемолітична анемія внаслідок дефіциту гексокінази","definition":"Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in <i>HK1</i>, the gene that encodes red blood cell-specific hexokinase-R."},"zh":{"name":"己糖激酶缺乏型所致非球形细胞溶血性贫血症"},"tr":{"name":"Hekzokinaz eksikliğine bağlı sferositik olmayan hemolitik anemi"}},"xrefs":[{"source":"OMIM","code":"235700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1942043262"},{"source":"MONDO","code":"0009340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0472792","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3672","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":"HK1","name":"hexokinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12393545[PMID]","hgnc":"4922","ensembl":"ENSG00000156515","omim":"142600","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}