{"orpha":572543,"name":"RFVT2-related riboflavin transporter deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["RTD2","Riboflavin transporter deficiency 2"],"definition":null,"note":"This disease is described under Riboflavin transporter deficiency","url":"https://raremap.alftech.space/d/ORPHA-572543/","orphanet_url":"https://www.orpha.net/en/disease/detail/572543","names":{"fr":{"name":"Déficit en transporteur de la riboflavine lié à RFVT2","synonyms":["RTD2","Déficit en transporteur de la riboflavine 2"]},"de":{"name":"RFVT2-assoziierte Riboflavin-Transporter-Defizienz","synonyms":["RTD2","Riboflavin-Transporter-Mangel Typ 2"]},"es":{"name":"Deficiencia del transportador de riboflavina asociada a RFVT2","synonyms":["Deficiencia del transportador de riboflavina tipo 2"]},"it":{"name":"Deficit del trasportatore della riboflavina correlato a RFVT2","synonyms":["Deficit del trasportatore della riboflavina 2","RTD2"]},"nl":{"name":"RFVT2-gerelateerde riboflavinetransporterdeficiëntie","synonyms":["RTD2","Riboflavinetransporterdeficiëntie 2"]},"pt":{"name":"Deficiência do transportador de riboflavina RFVT2-relacionada"},"pl":{"name":"Niedobór transportera ryboflawiny związany z RFVT2","synonyms":["Niedobór transpotera ryboflawiny 2"]},"cs":{"name":"RFVT2-vázaný deficit riboflavinového transportéru","synonyms":["RTD2","Riboflavin transporter deficiency 2"]},"uk":{"name":"Дефіцит транспортера рибофлавіну, повязаний з RFVT2","synonyms":["Дефіцит транспортера рибофлавіну 2","RTD2"]},"zh":{"name":"RFVT2基因相关核黄素转运蛋白缺乏症","synonyms":["核黄素转运蛋白缺乏症2型"]},"tr":{"name":"RFVT2-ilişkili riboflavin taşıyıcı eksikliği","synonyms":["RTD2","Riboflavin taşıyıcı eksikliği 2"]}},"xrefs":[{"source":"OMIM","code":"614707","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0024537","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796274","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":97229,"name":"Riboflavin transporter deficiency","classifications":[147,156,181,189,200]}],"children":[],"genes":[{"symbol":"SLC52A2","name":"solute carrier family 52 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26973221[PMID]_30793323[PMID]","hgnc":"30224","ensembl":"ENSG00000185803","omim":"607882","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}