{"orpha":572550,"name":"RFVT3-related riboflavin transporter deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["RTD3","Riboflavin transporter deficiency 3"],"definition":null,"note":"This disease is described under Riboflavin transporter deficiency","url":"https://raremap.alftech.space/d/ORPHA-572550/","orphanet_url":"https://www.orpha.net/en/disease/detail/572550","names":{"fr":{"name":"Déficit en transporteur de la riboflavine lié à RFVT3","synonyms":["Déficit en transporteur de la riboflavine 3","RTD3"]},"de":{"name":"RFVT3-assoziierte Riboflavin-Transporter-Defizienz","synonyms":["RTD3","Riboflavin-Transporter-Mangel Typ 3"]},"es":{"name":"Deficiencia del transportador de riboflavina asociada a RFVT3","synonyms":["Deficiencia del transportador de riboflavina tipo 3"]},"it":{"name":"Deficit del trasportatore della riboflavina correlato a RFVT3","synonyms":["Deficit del trasportatore della riboflavina 3","RTD3"]},"nl":{"name":"RFVT3-gerelateerde riboflavinetransporterdeficiëntie","synonyms":["RTD3","Riboflavinetransporterdeficiëntie 3"]},"pt":{"name":"Deficiência do transportador de riboflavina RFVT3-relacionada"},"pl":{"name":"Niedobór transportera ryboflawiny związany z RFVT3","synonyms":["Niedobór transpotera ryboflawiny 3"]},"cs":{"name":"RFVT3-vázaný deficit riboflavinového transportéru","synonyms":["RTD3","Riboflavin transporter deficiency 3"]},"uk":{"name":"Дефіцит транспортера рибофлавіну, повязаний з RFVT3","synonyms":["Дефіцит транспортера рибофлавіну 3","RTD3"]},"zh":{"name":"RFVT3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3型"]},"tr":{"name":"RFVT3-ilişkili riboflavin taşıyıcı eksikliği","synonyms":["RTD3","Riboflavin taşıyıcı eksikliği 3"]}},"xrefs":[{"source":"OMIM","code":"211530","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":"0013867","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553538","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97229,"name":"Riboflavin transporter deficiency","classifications":[147,156,181,189,200]}],"children":[],"genes":[{"symbol":"SLC52A3","name":"solute carrier family 52 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26973221[PMID]_30793323[PMID]","hgnc":"16187","ensembl":"ENSG00000101276","omim":"613350","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","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}