{"orpha":199348,"name":"Thiamine-responsive encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199348/","orphanet_url":"https://www.orpha.net/en/disease/detail/199348","names":{"fr":{"name":"Encéphalopathie sensible à la thiamine","definition":"L'encéphalopathie sensible à la thiamine est une encéphalopathie de type Wernicke caractérisée par l'apparition de convulsions qui répondent à la thiamine à haute dose."},"de":{"name":"Enzephalopathie, Thiamin-responsive","definition":"Die Thiamin-responsive Enzephalopathie ähnelt der Wernicke-Enzephalopathie und ist gekennzeichnet durch zerebrale Krämpfe, die auf hohe Dosen Thiamin ansprechen."},"es":{"name":"Encefalopatía sensible a la tiamina","definition":"La encefalopatía sensible a la tiamina es una encefalopatía similar a la encefalopatía de Wernicke, y está caracterizada por crissi epilépticas que responden a altas dosis de tiamina."},"it":{"name":"Encefalopatia sensibile alla tiamina","definition":"L'encefalopatia sensibile alla tiamina è un'encefalopatia simile alla forma di Wernicke (si veda questo termine) caratterizzata da convulsioni che rispondono alla tiamina ad alte dosi."},"nl":{"name":"Thiamineresponsieve encefalopathie","definition":"Thiamineresponsieve encefalopathie is een Wernicke-achtige encefalopathie, gekenmerkt door insulten die responsief zijn voor hoge doses thiamine."},"pt":{"name":"Encefalopatia sensível à tiamina","definition":"A encefalopatia sensível à tiamina é uma encefalopatia Wernicke-like (ver este termo) caracterizada por convulsões que respondem a altas doses de tiamina."},"pl":{"name":"Encefalopatia reagująca na tiaminę"},"cs":{"name":"Thiamin-responzivní encefalopatie"},"uk":{"name":"Тіамін-чутлива енцефалопатія","definition":"Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine."},"zh":{"name":"硫胺素反应性脑病","definition":"硫胺素反应性脑病是一种以高剂量硫胺素所致惊厥为特征的韦尼克样脑病（见该术语）。"},"tr":{"name":"Tiamine duyarlı ensefalopati"}},"xrefs":[{"source":"OMIM","code":"607483","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E51.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B5A.10","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"UMLS","code":"C5848322","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":298644,"name":"Disorder of thiamine metabolism and transport","classifications":[150,156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC19A3","name":"solute carrier family 19 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19387023[PMID]","hgnc":"16266","ensembl":"ENSG00000135917","omim":"606152","loci":["2q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"19387023[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19387023[PMID]"}],"phenotypes":null}