{"orpha":206428,"name":"Hypoxanthine-guanine phosphoribosyltransferase deficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["HPRT deficiency","HPRT1 deficiency","Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency"],"definition":"A group of rare hereditary disorders of purine metabolism characterized by uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206428/","orphanet_url":"https://www.orpha.net/en/disease/detail/206428","names":{"fr":{"name":"Déficit en hypoxanthine-guanine phosphoryl transférase","synonyms":["Déficit en HPRT","Déficit en HPRT1","Déficit en hypoxanthine-guanine phosphoryl transférase 1"],"definition":"Groupe de maladies héréditaires rares du métabolisme des purines, caractérisées par une surproduction d'acide urique et un spectre continu de manifestations neurologiques dépendant du degré de déficit enzymatique."},"de":{"name":"Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel","synonyms":["HPRT-Mangel","HPRT1-Mangel","Hypoxanthin-Guanin-Phosphoribosyltransferase-1-Mangel"],"definition":"Der Mangel der Hypoxanthin-Guanin Phosphoribosyltransferase (HPRT) ist eine erbliche Erkrankung des Purinstoffwechsels mit Überproduktion von Harnsäure und einem Kontinuum neurologischer Symptome in Abhängigkeit vom Ausmaß des Enzymmangels."},"es":{"name":"Deficiencia de hipoxantina-guanina fosforibosiltransferasa","synonyms":["Deficiencia de HPRT","Deficiencia de HPRT1","Deficiencia de hipoxantina-guanina fosforibosiltransferasa 1"],"definition":"El déficit de hipoxantina-guanina-fosforribosil-transferasa (HPRT) es un trastorno hereditario del metabolismo de las purinas asociado a una sobreproducción de ácido úrico (AU) y con un espectro variable de manifestaciones neurológicas dependiendo del grado de deficiencia de la enzima."},"it":{"name":"Deficit di ipoxantina-guanina fosforibosiltransferasi","synonyms":["Deficit di HPRT","Deficit di HPRT1","Deficit di ipoxantina-guanina fosforibosiltransferasi 1"],"definition":"Il deficit di ipoxantina-guanina fosforibosiltransferasi (HPRT) è una malattia ereditaria del metabolismo delle purine, associata a un'iperproduzione di acido urico e a vari segni neurologici, la cui gravità dipende dall'entità del deficit enzimatico"},"nl":{"name":"Deficiëntie van hypoxanthine-guanine-fosforibosyltransferase","synonyms":["Deficiëntie van hypoxanthine-guanine-fosforibosyltransferase 1","HPRT-deficiëntie","HPRT1-deficiëntie"],"definition":"Een groep van zeldzame erfelijke aandoeningen van purinemetabolisme, gekenmerkt door overproductie van urinezuur en een continu spectrum van neurologische manifestaties afhankelijk van de mate van enzymdeficiëntie."},"pt":{"name":"Deficiência da hipoxantina-guanina fosforribosiltransferase","definition":"A deficiência de hipoxantina-guanina fosforibosiltransferase (HPRT) é uma patologia hereditária do metabolismo das purinas associada a sobreprodução de ácido úrico e a um espectro contínuo de manifestações neurológicas, dependendo do grau da deficiência enzimática."},"pl":{"name":"Niedobór fosforybozyltransferazy hipoksantynowo-guaninowej","synonyms":["Niedobór fosforybozyltransferazy hipoksantynowo-guaninowej 1","Niedobór HPRT deficiency","Niedobór HPRT1"]},"cs":{"name":"Deficit hypoxanthinguaninfosforibosyltransferázy","synonyms":["Deficit HPRT","Deficit HPRT1","Deficit hypoxanthinguaninfosforibosyltransferázy 1"]},"uk":{"name":"Дефіцит гіпоксантин-гуанінфосфорибозилтрансферази","synonyms":["Дефіцит HPRT","Дефіцит HPRT1","Дефіцит гіпоксантин-гуанін-фосфорибозилтрансферази 1"],"definition":"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency."},"zh":{"name":"次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症","synonyms":["次黄嘌呤鸟嘌呤磷酸核糖转移酶1缺乏症"],"definition":"次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症是一种与尿酸产生过多相关的嘌呤代谢遗传性疾病，其神经系统症状和酶的缺乏程度有关。"},"tr":{"name":"Hipoksantin-guanin fosforibosiltransferaz eksikliği","synonyms":["HPRT eksikliği","HPRT1 eksikliği","Hipoksantin-guanin fosforibosiltransferaz 1 eksikliği"]}},"xrefs":[{"source":"MONDO","code":"0016088","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848153","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075774","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98415,"name":"Vitamin B12- and folate-independent constitutional megaloblastic anemia","classifications":[156,194]}],"children":[{"orpha":79233,"name":"Hypoxanthine guanine phosphoribosyltransferase partial deficiency","type":"Disease"},{"orpha":510,"name":"Lesch-Nyhan syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}