{"orpha":298644,"name":"Disorder of thiamine metabolism and transport","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-298644/","orphanet_url":"https://www.orpha.net/en/disease/detail/298644","names":{"fr":{"name":"Anomalie du métabolisme et du transport de la thiamine"},"de":{"name":"Thiamin-Stoffwechsel- und Transportstörungen"},"es":{"name":"Trastorno del metabolismo y transporte de la tiamina"},"it":{"name":"Difetto del metabolismo e del trasporto della tiamina"},"nl":{"name":"Stoornis van thiaminemetabolisme en -transport"},"pt":{"name":"Doença do metabolismo da tiamina"},"pl":{"name":"Zaburzenia metabolizmu i transportu tiaminy"},"cs":{"name":"Poruchy metabolismu a transportu thiaminu"},"uk":{"name":"Порушення метаболізму та транспорту тіаміну"},"zh":{"name":"硫胺素代谢和转运障碍"},"tr":{"name":"Tiamin metabolizması ve taşınmasında bozukluk"}},"xrefs":[{"source":"MONDO","code":"0017578","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17578","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681092","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309827,"name":"Disorder of vitamin and non-protein cofactor absorption and transport","classifications":[150,156]}],"children":[{"orpha":99742,"name":"Amish lethal microcephaly","type":"Malformation syndrome"},{"orpha":65284,"name":"Biotin-thiamine-responsive basal ganglia disease","type":"Disease"},{"orpha":293955,"name":"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency","type":"Disease"},{"orpha":263410,"name":"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome","type":"Disease"},{"orpha":217396,"name":"Progressive polyneuropathy with bilateral striatal necrosis","type":"Disease"},{"orpha":199348,"name":"Thiamine-responsive encephalopathy","type":"Disease"},{"orpha":49827,"name":"Thiamine-responsive megaloblastic anemia syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}