{"orpha":28378,"name":"Tyrosinemia type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Keratosis palmoplantaris-corneal dystrophy syndrome","Oculocutaneous tyrosinemia","Richner-Hanhart syndrome","Tyrosinemia due to TAT deficiency","Tyrosinemia due to tyrosine aminotransferase deficiency","Tyrosinemia type II"],"definition":"A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-28378/","orphanet_url":"https://www.orpha.net/en/disease/detail/28378","names":{"fr":{"name":"Tyrosinémie type 2","synonyms":["Syndrome de Richner-Hanhart","Syndrome de kératose palmoplantaire-dystrophie cornéenne","Tyrosinémie oculocutanée","Tyrosinémie par déficit en TAT","Tyrosinémie par déficit en tyrosine aminotransférase","Tyrosinémie type II"],"definition":"Erreur innée rare du métabolisme de la tyrosine caractérisée par une hypertyrosinémie et des manifestations oculo-cutanées et, dans certains cas, une déficience intellectuelle."},"de":{"name":"Tyrosinämie Typ 2","synonyms":["Tyrosinämie durch TAT-Mangel","Tyrosinämie durch Tyrosintransaminase-Mangel","Okulokutane Tyrosinämie","Palmoplantarkeratose - Hornhautdystrophie","Richner-Hanhart-Syndrom","Tyrosinämie Typ II"],"definition":"Ein seltener angeborener Defekt im Stoffwechsel des Tyrosins, der durch Hypertyrosinämie mit okulokutanen Manifestationen gekennzeichnet ist und in einigen Fällen mit Intelligenzminderung einhergeht."},"es":{"name":"Tirosinemia tipo 2","synonyms":["Queratosis palmoplantar-distrofia corneal","Síndrome de Richner-Hanhart","Tirosinemia oculocutánea","Tirosinemia por deficiencia de TAT","Tirosinemia por deficiencia de tirosina aminotransferasa","Tirosinemia tipo II"],"definition":"Es un error congénito del metabolismo de la tirosina poco frecuente caracterizado por hipertirosinemia con manifestaciones oculocutáneas y, en algunos casos, déficit intelectual."},"it":{"name":"Tirosinemia, tipo 2","synonyms":["Cheratosi palmoplantare - distrofia corneale","Sindrome di Richner-Hanhart","Tirosinemia da deficit di TAT","Tirosinemia da deficit di tirosina aminotransferasi","Tirosinemia oculocutanea","Tirosinemia, tipo II"]},"nl":{"name":"Tyrosinemie type 2","synonyms":["Keratosis palmoplantaris - hoornvliesdystrofie-syndroom","Oculocutane tyrosinemie","Syndroom van Richner-Hanhart","Tyrosinemie als gevolg van TAT-deficiëntie","Tyrosinemie als gevolg van tyrosine aminotransferasedeficiëntie","Tyrosinemie type II"],"definition":"Een zeldzaam aangeboren defect van metabolisme van tyrosine, gekenmerkt door hypertyrosinemie met oculocutane manifestaties en, in sommige gevallen, intellectuele achterstand."},"pt":{"name":"Tirosinemia tipo 2","synonyms":["Tirosinemia por deficiência de TAT","Tirosinemia por deficiência de tirosina aminotransferase","Tirosinemia tipo II","Síndrome Richner-Hanhart","Síndrome de queratose palmo-plantar-distrofia da córnea","Tirosinemia oculo-cutânea"],"definition":"Erro congénito raro do metabolismo da tirosina caracterizado por hipertirosinemia com manifestações oculocutâneas e, em alguns casos, perturbação do desenvolvimento intelectual."},"pl":{"name":"Tyrozynemia typu 2","synonyms":["Rogowiec dłoniowo-podeszwowy - dystrofia rogówki","Tyrozynemia oczno-skórna","Tyrozynemia spowodowana niedoborem aminotransferazy tyrozyny","Tyrozynemia spowodowana niedoborem TAT","Tyrozynemia typu II","Zespół Richnera i Hanharta"],"definition":"Tyrozynemia typu 2 to wrodzona wada metabolizmu tyrozyny charakteryzująca się hipertyrozynemią z objawami oczno-skórnymi oraz w niektórych przypadkach niepełnosprawnością intelektualną."},"cs":{"name":"Tyrosinémie, typ 2","synonyms":["Syndrom zahrnující keratosis palmoplantaris a korneální dystrofii","Okulokutánní tyrosinémie","Tyrosinémie, typ II","Richnerův-Hanhartův syndrom","Tyrosinémie způsobená deficitem TAT","Tyrosinémie způsobená deficitem tyrosin aminotransferázy","Richner-Hanhartův syndrom"]},"uk":{"name":"Тирозинемія, тип 2","synonyms":["Синдром кератозу пальмоплантарно-рогівкової дистрофії","Окулярна тирозинемія","Синдром Ріхнера-Ганхарта","Тирозинемія внаслідок дефіциту ТАТ","Тирозинемія внаслідок дефіциту тирозин-амінотрансферази","Тирозинемія II типу"],"definition":"A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit."},"zh":{"name":"酪氨酸血症II型","synonyms":["酪氨酸氨基转移酶缺乏所致酪氨酸血症"]},"tr":{"name":"Tirozinemi tip 2","synonyms":["Tirozinemi tip II","Richner-Hanhart sendromu","Okülokütan tirozinemi","TAT eksikliğine bağlı tirozinemi","Keratoz palmoplantaris-korneal distrofi sendromu","Tirozin aminotransferaz eksikliğine bağlı tirozinemi"]}},"xrefs":[{"source":"OMIM","code":"276600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.12","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1900229795"},{"source":"MONDO","code":"0010160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268487","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3105","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069463","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98357,"name":"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":284818,"name":"Disorder of tyrosine metabolism","classifications":[150,156]},{"orpha":519288,"name":"Rare disorder with corneal involvement as a major feature","classifications":[189]},{"orpha":522558,"name":"Rare genetic disorder with corneal involvement as a major feature","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TAT","name":"tyrosine aminotransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"1357662[PMID]","hgnc":"11573","ensembl":"ENSG00000198650","omim":"613018","loci":["16q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"8912606[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-18","source":null,"terms":[{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004337","label":"Abnormality of amino acid metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}