{"orpha":210128,"name":"Urocanic aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Encephalopathy due to urocanase deficiency"],"definition":"A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210128/","orphanet_url":"https://www.orpha.net/en/disease/detail/210128","names":{"fr":{"name":"Acidurie urocanique","synonyms":["Encéphalopathie par déficit en urocanase"],"definition":"Trouble rare du métabolisme de l'histidine caractérisé par une acidurie urocanique et d'autres manifestations variables, notamment une déficience intellectuelle et une ataxie intermittente."},"de":{"name":"Urocanase-Azidurie","synonyms":["Enzephalopathie durch Urocanase-Mangel"],"definition":"Die Enzephalopathie durch Urocanase-Mangel ist eine extrem seltene Störung des Histidin-Stoffwechsels. Sie ist gekennzeichnet durch vermehrte Ausscheidung von Urocansäure im Urin. Bei den 4 bisher beschriebenen Fällen bestanden intellektuelles Defizit und intermittierende Ataxie."},"es":{"name":"Aciduria urocánica","synonyms":["Encefalopatía por deficiencia de urocanasa"],"definition":"La encefalopatía por déficit de urocanasa es un trastorno del metabolismo de la histidina, extremadamente poco frecuente, que se caracteriza por aciduria urocánica y otras manifestaciones que incluyen déficit intelectual y ataxia intermitente en los 4 casos descritos hasta la fecha."},"it":{"name":"Aciduria urocanica","synonyms":["Encefalopatia da deficit di urocanasi"],"definition":"L'encefalopatia da deficit di urocanasi è una malattia estremamente rara del metabolismo dell'istidina, caratterizzata da aciduria urocanica e altri sintomi variabili, che comprendono il deficit cognitivo e l'atassia intermittente, nei 4 casi finora descritti."},"nl":{"name":"Urocaanzuuracidurie","synonyms":["Encefalopathie door deficiëntie van urocanase"],"definition":"Een uiterst zeldzame stoornis van histidinemetabolisme, gekenmerkt door urocaanzuuracidurie en andere variabele manifestaties waaronder intellectuele achterstand en intermitterende ataxie bij de 4 gevallen die tot op heden werden gerapporteerd."},"pt":{"name":"Encefalopatia por deficiência de urocanase"},"pl":{"name":"Acyduria urokanianowa","synonyms":["Encefalopatia z powodu niedoboru urokanazy"]},"cs":{"name":"Urokanová acidurie","synonyms":["Encefalopatie způsobená deficitem urokanázy"]},"uk":{"name":"Сечокамяна ацидурія","synonyms":["Енцефалопатія внаслідок дефіциту уроканази"],"definition":"A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia."},"zh":{"name":"尿刊酸尿","synonyms":["尿刊酸酶缺乏所致脑病"],"definition":"尿刊酸酶缺乏性脑病是一种极为罕见的组氨酸代谢紊乱，其主要临床表现为尿刊酸尿和其它症状，包括智力障碍和间歇性共济失调。"},"tr":{"name":"Ürokanik asidüri","synonyms":["Ürokanaz eksikliğine bağlı ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"276880","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"61773927"},{"source":"MONDO","code":"0010167","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536479","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268514","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8539","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79181,"name":"Disorder of histidine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"UROC1","name":"urocanate hydratase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19304569[PMID]","hgnc":"26444","ensembl":"ENSG00000159650","omim":"613012","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19304569[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19304569[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-20","source":"19304569[PMID]","terms":[{"hpo":"HP:0010904","label":"Abnormal circulating histidine concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007979","label":"Gaze-evoked horizontal nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012237","label":"Urocanic aciduria","frequency":"Very frequent (99-80%)","criteria":null}]}}