{"orpha":882,"name":"Tyrosinemia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FAH deficiency","Fumarylacetoacetase deficiency","Fumarylacetoacetate hydrolase deficiency","Hepatorenal tyrosinemia","Tyrosinemia type I"],"definition":"A rare inborn error of tyrosine catabolism characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-882/","orphanet_url":"https://www.orpha.net/en/disease/detail/882","names":{"fr":{"name":"Tyrosinémie type 1","synonyms":["Déficit en FAH","Déficit en fumarylacétoacétase","Déficit en fumarylacétoacétate hydrolase","Tyrosinose hépato-rénale","Tyrosinémie hépato-rénale","Tyrosinémie type I"],"definition":"Erreur innée rare du catabolisme de la tyrosine caractérisée par une maladie hépatique progressive, un dysfonctionnement tubulaire rénal, des crises de type porphyrique et une amélioration spectaculaire du pronostic après traitement par la nitisinone."},"de":{"name":"Tyrosinämie Typ 1","synonyms":["FAH-Mangel","Fumarylacetoacetase-Hydrolase-Mangel","Fumarylacetoacetase-Mangel","Tyrosinämie Typ I","Tyrosinämie, hepatorenale"],"definition":"Ein seltener angeborener Fehler des Tyrosin-Katabolismus, der durch eine fortschreitende Lebererkrankung, eine Funktionsstörung der Nierentubuli, Porphyrie-ähnliche Krisen und eine dramatische Verbesserung der Prognose nach einer Behandlung mit Nitisinon gekennzeichnet ist."},"es":{"name":"Tirosinemia tipo 1","synonyms":["Deficiencia de FAH","Deficiencia de fumarilacetoacetasa","Deficiencia de fumarilacetoacetasa hidrolasa","Tirosinemia hepatorrenal","Tirosinemia tipo I"],"definition":"Es un error congénito del catabolismo de la tirosina poco frecuente caracterizado por enfermedad hepática progresiva, disfunción tubular renal, crisis similares a la porfiria y una mejora dramática en el pronóstico después del tratamiento con nitisinona."},"it":{"name":"Tirosinemia, tipo 1","synonyms":["Deficit di FAH","Deficit di fumaril acetoacetasi","Deficit di fumaril acetoacetato idrolasi","Tirosinemia epatorenale","Tirosinemia, tipo I"]},"nl":{"name":"Tyrosinemie type 1","synonyms":["Deficiëntie van fumarylacetoacetaat-hydrolase","Deficiëntie van fumarylacetoacetase","FAH-deficiëntie","Hepatorenale tyrosinemie","Tyrosinemie type I"],"definition":"Een zeldzaam aangeboren defect van metabolisme van tyrosine, gekenmerkt door progressieve leverziekte, dysfunctie van niertubulus, porfyrie-achtige crises en een dramatische verbetering van de prognose na behandeling met nitisinon."},"pt":{"name":"Tirosinemia tipo 1","synonyms":["Deficiência de fumarilacetoacetase","Tirosinemia hepato-renal"],"definition":"Erro inato do catabolismo da tirosina raro, caracterizado por doença hepática progressiva, disfunção tubular renal, crises do tipo porfiria e melhoria dramática do prognóstico após tratamento com nitisinona."},"pl":{"name":"Tyrozynemia typu 1","synonyms":["Niedobór FAH","Niedobór fumaryloacetoacetazy","Niedobór hydrolazy fumaryloacetooctanu","Tyrozynemia typu I","Tyrozynemia wątrobowo-nerkowa"],"definition":"Tyrozynemia typu 1 (HTI) to wrodzona wada katabolizmu tyrozyny spowodowana nieprawidłową aktywnością hydrolazy fumaryloacetooctanu (FAH), która charakteryzuje się postępującą chorobą wątroby, dysfunkcją kanalików nerkowych, przełomami podobnymi do porfirii i radykalną poprawą po wdrożeniu leczenia nityzynonem."},"cs":{"name":"Tyrozinemie, typ 1","synonyms":["FAH deficit","Deficit fumarylacetoacetázy","Deficit fumarylacetoacetát hydrolázy","Hepatorenální tyrosinémie","Tyrosinémie, typ I"]},"uk":{"name":"Тирозинемія, тип 1","synonyms":["Дефіцит FAH","Дефіцит фумарилацетоацетази","Дефіцит фумарилацетоацетатної гідролази","Гепаторенальна тирозинемія","Тирозинемія I типу"],"definition":"A rare inborn error of tyrosine catabolism characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone."},"zh":{"name":"酪氨酸血症1型","synonyms":["延胡索酰乙酰乙酸水解酶缺乏症"]},"tr":{"name":"Tirozinemi tip 1","synonyms":["FAH eksikliği","Tirozinemi tip I","Hepatorenal tirozinemi","Fumarilasetoasetaz eksikliği","fumarilasetoasetat hidrolaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"276700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2029519782"},{"source":"MONDO","code":"0010161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268490","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2658","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069462","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":284818,"name":"Disorder of tyrosine metabolism","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"FAH","name":"fumarylacetoacetate hydrolase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301688[PMID]","hgnc":"3579","ensembl":"ENSG00000103876","omim":"613871","loci":["15q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Worldwide","status":"Validated","source":"20301688[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Norway","status":"Not yet validated","source":"20301688[PMID]_22554029[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Finland","status":"Validated","source":"33046095[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"Tunisia","status":"Validated","source":"22481200[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.25,"area":"Specific population","status":"Validated","source":"20301688[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":54.0,"area":"Specific population","status":"Validated","source":"2378355[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002909","label":"Generalized aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006463","label":"Rickets of the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}