{"orpha":510,"name":"Lesch-Nyhan syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HPRT complete deficiency","HPRT deficiency grade IV","Hypoxanthine guanine phosphoribosyltransferase complete deficiency","Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV"],"definition":"A form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction, severe motor dysfunction, intellectual disability, and self-injurious behaviour (SIB).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-510/","orphanet_url":"https://www.orpha.net/en/disease/detail/510","names":{"fr":{"name":"Syndrome de Lesch-Nyhan","synonyms":["Déficit complet en HPRT","Déficit complet en hypoxanthine guanine phosphoribosyltransférase","Déficit en HPRT grade IV","Déficit en hypoxanthine guanine phosphoribosyltransférase grade IV"],"definition":"Forme de déficit en hypoxanthine-guanine phosphoribosyltransférase (HPRT) caractérisée par une surproduction d'acide urique, un dysfonctionnement moteur grave, une déficience intellectuelle et des comportements d'automutilation (SIB pour self-injurious behaviour)."},"de":{"name":"Lesch-Nyhan-Syndrom","synonyms":["HPRT-Mangel vom Grad IV","HPRT-Mangel, kompletter","Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel, Grad IV"],"definition":"Eine Form des Hypoxanthin-Guanin-Phosphoribosyltransferase (HPRT)-Mangels, die mit einer Überproduktion von Harnsäure, schweren motorischen Funktionsstörungen, Intelligenzminderung und selbstverletzendem Verhalten (SVV) einhergeht."},"es":{"name":"Síndrome de Lesch-Nyhan","synonyms":["Deficiencia completa de HPRT","Deficiencia completa de hipoxantina guanina fosforribosiltransferasa","Deficiencia de HPRT, grado 4","Deficiencia de hipoxantina guanina fosforribosiltransferasa, grado 4"],"definition":"El síndrome de Lesch-Nyhan (LNS) es la forma más grave del déficit de la hipoxantina-guanina-fosforribosil-transferasa (HPRT), un trastorno hereditario del metabolismo de las purinas asociado con una sobreproducción de ácido úrico (AU), discapacidad neurológica y problemas de conducta."},"it":{"name":"Sindrome di Lesch-Nyhan","synonyms":["Deficit completo di HPRT","Deficit completo di ipoxantina guanina fosforibosiltransferasi","Deficit di HPRT, grado IV","Deficit di ipoxantina guanina fosforibosiltransferasi, grado IV"],"definition":"La sindrome di Lesch-Nyhan (LNS) è la forma più grave di deficit di ipoxantina-guanina fosforibosiltransferasi (HPRT), malattia ereditaria del metabolismo delle purine con iperproduzione di acido urico (UAO), disturbi neurologici e comportamentali."},"nl":{"name":"Syndroom van Lesch-Nyhan","synonyms":["Complete HPRT-deficiëntie","Complete deficiëntie van hypoxanthine-guanine-fosforibosyltransferase","Deficiëntie van hypoxanthine-guanine-fosforibosyltransferase, graad IV","HPRT-deficiëntie graad IV"],"definition":"Een vorm van deficiëntie van hypoxanthine-guanine-fosforibosyltransferase (HPRT), gekenmerkt door overproductie van urinezuur, ernstige motorische disfunctie, intellectuele achterstand, en zelfverwonding."},"pt":{"name":"Síndrome Lesch-Nyhan","synonyms":["Deficiência de hipoxantina guanina fosforribosiltransferase"],"definition":"A síndrome de Lesch-Nyhan (LNS) é a forma mais grave da deficiência de hipoxantina-guanina fosforibosiltransferase (HPRT) (ver este termo), uma patologia hereditária do metabolismo das purinas, e está associada à sobreprodução de ácido úrico (SAU), problemas neurológicos e comportamentais."},"pl":{"name":"Zespół Lescha i Nyhana","synonyms":["Całkowity Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej","Całkowity Niedobór HPRT","Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej, IV stopnia","Niedobór HPRT IV stopnia"],"definition":"Zespół Lescha-Nyhana to najcięższa postać niedoboru fosforybozylotransferazy hipoksantynowo-guaninowej (HPRT) (sprawdź to hasło), dziedzicznego zaburzenia metabolizmu puryn, związanego z nadmierną produkcją kwasu moczowego, problemami neurologicznymi i zaburzeniami zachowania."},"cs":{"name":"Leschův-Nyhanův syndrom","synonyms":["Kompletní deficit HPRT","Kompletní deficit hypoxanthinguaninfosforibosyltransferázy","Deficit HPRT stupně IV","Deficit hypoxanthinguaninfosforibosyltransferázy, stupeň IV","Lesch-Nyhanův syndrom"]},"uk":{"name":"Синдром Леша-Ніхана","synonyms":["Повна недостатність HPRT","Дефіцит HPRT IV ступеня","Повна недостатність гіпоксантин-гуанін-фосфорибозилтрансферази","Дефіцит гіпоксантин-гуанін-фосфорибозилтрансферази, ступінь IV"],"definition":"Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems."},"zh":{"name":"Lesch-Nyhan综合征","synonyms":["次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏症4级"]},"tr":{"name":"Lesch-Nyhan sendromu","synonyms":["HPRT tam eksikliği","HPRT eksikliği derece IV","Hipoksantin guanin fosforibosiltransferaz tam eksikliği","Hipoksantin guanin fosforibosiltransferaz eksikliği, derece IV"]}},"xrefs":[{"source":"OMIM","code":"300322","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"308950","qualifier":"ND","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C55.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1886495906"},{"source":"MONDO","code":"0010298","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007926","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023374","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7226","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057589","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":206428,"name":"Hypoxanthine-guanine phosphoribosyltransferase deficiency","classifications":[150,156,181,188,194,233]}],"children":[],"genes":[{"symbol":"HPRT1","name":"hypoxanthine phosphoribosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"5157","ensembl":"ENSG00000165704","omim":"308000","loci":["Xq26.2-q26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.42,"area":"Spain","status":"Validated","source":"18067674[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Spain","status":"Not yet validated","source":"18067674[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"Canada","status":"Validated","source":"4558815[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Canada","status":"Not yet validated","source":"4558815[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"United Kingdom","status":"Not yet validated","source":"21152085[PMID]_21126241[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"United Kingdom","status":"Validated","source":"21152085[PMID]_21126241[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001997","label":"Gout","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null}]}}