{"orpha":97229,"name":"Riboflavin transporter deficiency","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brown-Vialetto-van Laere syndrome"],"definition":"A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97229/","orphanet_url":"https://www.orpha.net/en/disease/detail/97229","names":{"fr":{"name":"Déficit en transporteur de la riboflavine","synonyms":["Syndrome de Brown-Vialetto-van Laere"],"definition":"Maladie génétique rare du motoneurone, caractérisée par une neuropathie périphérique et crânienne, une perte neuronale des cornes antérieures et une atrophie des voies sensorielles de la colonne vertébrale, entraînant une faiblesse musculaire, une perte sensorielle, une paralysie diaphragmatique et une insuffisance respiratoire, et de multiples déficits des nerfs crâniens tels qu'une surdité de perception, des symptômes bulbaires et une perte de vision due à une atrophie optique. Selon le transporteur affecté, on distingue le déficit en transporteur de la riboflavine 2 (RFVT2) et le déficit en transporteur de la riboflavine 3 (RFVT3)."},"de":{"name":"Riboflavin-Transporter-Defizienz","synonyms":["Brown-Vialetto-van Laere-Syndrom"],"definition":"Eine genetisch bedingte Motoneuronenkrankheit, die durch eine periphere und kraniale Neuropathie, einen neuronalen Verlust in den Vorderhörnern und eine Atrophie der spinalen sensorischen Bahnen gekennzeichnet ist, was zu Muskelschwäche, sensorischem Verlust, Zwerchfelllähmung und Ateminsuffizienz sowie zu multiplen Hirnnervendefiziten wie Schallempfindungsschwerhörigkeit, bulbären Symptomen und Sehverlust aufgrund von Optikusatrophie führt. Je nach betroffenem Transporter wird zwischen Riboflavintransporter-Mangel 2 (RTD2) und Riboflavintransporter-Mangel 3 (RTD3) unterschieden."},"es":{"name":"Deficiencia del transportador de riboflavina","synonyms":["Síndrome de Brown-Vialetto-van Laere"],"definition":"Es una enfermedad de la motoneurona de origen genético, poco frecuente caracterizada por una neuropatía periférica y craneal, pérdida neuronal en las astas anteriores y atrofia de los tractos sensitivos espinales, que resulta en debilidad muscular, déficit sensitivo, parálisis diafragmática e insuficiencia respiratoria y en múltiples alteraciones de los pares craneales tales como pérdida auditiva neurosensorial, síntomas bulbares y pérdida de la visión por atrofia óptica. Según el transportador afectado, se distingue entre la deficiencia del transportador de riboflavina 2 (RFVT2) y la deficiencia del transportador de riboflavina 3 (RFVT3)."},"it":{"name":"Deficit del trasportatore della riboflavina","synonyms":["Sindrome di Brown-Vialetto-Van Laere"],"definition":"Il deficit del trasportatore della riboflavina (RTD) è una sordità genetica sindromica caratterizzata da neuropatia periferica e cranica, perdita neuronale nelle corna anteriori e atrofia delle vie sensoriali della colonna, che causano debolezza muscolare, perdita sensoriale, paralisi diaframmatica e insufficienza respiratoria, deficit multipli dei nervi cranici come la sordità neurosensoriale, sintomi bulbari e cecità secondaria all'atrofia ottica. A seconda del trasportatore interessato, si distinguono due forme della malattia: il deficit del trasportatore della riboflavina 2 (RFVT2) e il deficit del trasportatore della riboflavina 3 (RFVT3)."},"nl":{"name":"Deficiëntie van riboflavinetransporter","synonyms":["Syndroom van Brown-Vialetto-van Laere"],"definition":"Een zeldzame, genetische motorneuronziekte, gekarakteriseerd door neuropathie van perifere en craniale zenuwen, verlies van neuronen in voorhoorn, en atrofie van sensorische banen in ruggenmerg, wat leidt tot spierzwakte, zintuiglijk verlies, paralyse van diafragma en respiratoire insufficiëntie, alsook multipele functiestoornissen van hersenzenuwen zoals sensorineuraal gehoorverlies, bulbaire symptomen, en verlies van gezichtsvermogen door opticusatrofie. Afhankelijk van de transporter die is aangetast, wordt onderscheid gemaakt tussen riboflavinetransporterdeficiëntie 2 (RFVT2) en riboflavinetransporterdeficiëntie 3 (RFVT3)."},"pt":{"name":"Deficiência de transportador de riboflavina","synonyms":["Síndrome Brown-Vialetto-van Laere"],"definition":"Doença rara, genética, do neurónio motor, caracterizada por neuropatia periférica e craniana, perda neuronal nos cornos anteriores e atrofia dos tratos sensitivos da medula espinal, provocando fraqueza muscular, perda sensorial, paralisia diafragmática e insuficiência respiratória, bem como múltiplos défices de nervos cranianos, como perda auditiva neurossensorial, sintomas bulbares e perda de visão devido a atrofia ótica. Dependendo do transportador afetado, distinguem-se a deficiência do transportador de riboflavina 2 (RFVT2) e a deficiência do transportador de riboflavina 3 (RFVT3)."},"pl":{"name":"Niedobór transportera ryboflawiny","synonyms":["Czuciowo-nerwowa utrata słuchu - porażenie mostowo-opuszkowe","Zespół Browna, Vialetto i an Laere'a"]},"cs":{"name":"Deficit transporteru riboflavinu","synonyms":["Syndrom zahrnující senzorineurální ztrátu sluchu a pontobulbární obrnu","Brownův-Vialettův-van Laerův syndrom","Brown-Vialetto-van Laerův syndrom"]},"uk":{"name":"Дефіцит транспортера рибофлавіну","synonyms":["Синдром Брауна-Віалетто-ван Лаере"],"definition":"A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished."},"zh":{"name":"核黄素转运子缺乏症","synonyms":["感音神经性耳聋-脑桥延髓麻痹综合征"],"definition":"一种综合征性遗传性耳聋，以周围神经和颅神经病变、前角神经元缺失和脊髓感觉束萎缩为特征，引起肌无力、感觉丧失、膈肌麻痹和呼吸功能不全，以及多发性颅神经缺损，如感音神经性听力丧失、球麻痹症状，以及视神经萎缩导致的视力丧失。根据受影响的转运体区分，可分为核黄素转运体缺陷2（RFVT2）和核黄素转运体缺陷3（RFVT3）。"},"tr":{"name":"Riboflavin taşıyıcı eksikliği","synonyms":["Brown-Vialetto-van Laere sendromu","Sensörinöral sağırlık-pontobulber palsi sendromu","Sensörinöral işitme kaybı-pontobulber palsi sendromu"]}},"xrefs":[{"source":"OMIM","code":"211500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"211530","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614707","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1499927268"},{"source":"MONDO","code":"0008891","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537111","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551777","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9993","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084089","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":56965,"name":"Progressive bulbar paralysis of childhood","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206704,"name":"Bulbospinal muscular atrophy of childhood","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[{"orpha":572543,"name":"RFVT2-related riboflavin transporter deficiency","type":"Clinical subtype"},{"orpha":572550,"name":"RFVT3-related riboflavin transporter deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":572543,"name":"RFVT2-related riboflavin transporter deficiency"}},{"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"],"via":{"orpha":572550,"name":"RFVT3-related riboflavin transporter deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":109.0,"area":"Worldwide","status":"Validated","source":"30793323[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30793323[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"26072523[PMID]","terms":[{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001730","label":"Progressive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008002","label":"Abnormality of macular pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}