{"orpha":96,"name":"Ataxia with vitamin E deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AVED","Ataxia with isolated vitamin E deficiency","Familial isolated vitamin E deficiency","Friedreich-like ataxia","Isolated vitamin E deficiency"],"definition":"A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96/","orphanet_url":"https://www.orpha.net/en/disease/detail/96","names":{"fr":{"name":"Ataxie par déficit en vitamine E","synonyms":["AVED","Ataxie par déficit isolé en vitamine E","Ataxie type Friedreich-like","Déficit familial isolé en vitamine E"],"definition":"L'ataxie par déficit en vitamine E (AVED) est une maladie neurodégénérative appartenant aux ataxies cérébelleuses héréditaires. Elle est principalement caractérisée par une ataxie spinocérébelleuse progressive, une perte de la proprioception et une aréflexie, et est associée à un déficit prononcé en vitamine E."},"de":{"name":"Ataxie mit Vitamin E-Mangel","synonyms":["AVED","Ataxie mit isoliertem Vitamin E-Mangel","Ataxie, Friedreich-ähnliche","Isolierter Vitamin E-Mangel","Vitamin E-Mangel, isolierter familärer"],"definition":"Die Ataxie mit Vitamin E-Mangel (AVED) ist eine neurodegenerative Erkrankung aus der Gruppe der erblichen zerebellären Ataxien. Kennzeichnend sind vor allem: Progrediente spino-zerebelläre Ataxie, Verlust der Propriozeption, Areflexie und die Assoziation mit einem deutlichen Mangel an Vitamin E."},"es":{"name":"Ataxia con deficiencia de vitamina E","synonyms":["AVED","Ataxia con deficiencia aislada de vitamina E","Ataxia tipo Friedreich","Deficiencia aislada de vitamina E","Deficiencia aislada de vitamina E familiar"],"definition":"Es una enfermedad neurodegenerativa que pertenece a las ataxias cerebelosas hereditarias. Se caracteriza principalmente por una ataxia espinocerebelosa progresiva, pérdida de propiocepción, arreflexia, y se asocia a un marcado déficit de vitamina E."},"it":{"name":"Atassia con deficit della vitamina E","synonyms":["AVED","Atassia Friedreich-simile","Atassia con deficit isolato della vitamina E","Deficit isolato della vitamina E","Deficit isolato familiare della vitamina E"],"definition":"L'atassia con deficit di vitamina E (AVED) è una malattia neurodegenerativa appartenente alle atassie cerebellari ereditarie. Si caratterizza per atassia spinocerebellare progressiva, perdita della propriocezione e areflessia, associata a un deficit significativo di vitamina E."},"nl":{"name":"Ataxie met vitamine E-deficiëntie","synonyms":["AVED","Ataxie met geïsoleerde vitamine E-deficiëntie","Familiale geïsoleerde vitamine E-deficiëntie","Friedreich-achtige ataxie","Geïsoleerde vitamine E-deficiëntie"],"definition":"Een neurodegeneratieve ziekte die behoort tot de erfelijke cerebellaire ataxieën, die voornamelijk gekarakteriseerd wordt door progressieve spinocerebellaire ataxie, verlies van proprioceptie (positiezin), en areflexie, en die geassocieerd is met duidelijke vitamine E-deficiëntie."},"pt":{"name":"Ataxia com deficiência de vitamina E","synonyms":["AVED","Ataxia Friedreich-like","Deficiência isolada de vitamina E","Deficiência isolada familiar de vitamina E"],"definition":"A ataxia com déficde de vitamina E (AVED) é uma doença neurodegenerativa que pertence às ataxias cerebelosas hereditárias. É caracterizada principalmente por ataxia espinocerebelosa progressiva, perda de propriocepção e arreflexia e está associada a défice acentuado de vitamina E."},"pl":{"name":"Ataksja z niedoborem witaminy E","synonyms":["Ataksja podobna do ataksji Friedricha","Ataksja z izolowanym niedoborem witaminy E","AVED","Izolowany Niedobór witaminy E","Rodzinny izolowany Niedobór witaminy E"],"definition":"Choroba neurodegeneracyjna należąca do dziedzicznych ataksji móżdżkowych, charakteryzująca się postępującą ataksją rdzeniowo-móżdżkową, utratą czucia głębokiego oraz brakiem odruchów. Związana jest ze znacznym niedoborem witaminy E."},"cs":{"name":"Ataxie s deficitem vitaminu E","synonyms":["AVED","Ataxie s izolovaným deficitem vitaminu E","Familiární izolovaný deficit vitaminu E","Friedreich-like ataxie","Izolovaný deficit vitaminu E"]},"uk":{"name":"Атаксія з дефіцитом вітаміну Е","synonyms":["Атаксія з ізольованим дефіцитом вітаміну Е","AVED","Сімейний ізольований дефіцит вітаміну Е","Атаксія типу Фрідрейха","Ізольований дефіцит вітаміну Е"],"definition":"A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E."},"zh":{"name":"共济失调伴维生素E缺乏症","synonyms":["共济失调伴维生素E缺乏症"]},"tr":{"name":"E vitamini eksikliğine bağlı ataksi","synonyms":["AVED","Friedreich-benzeri ataksi","İzole E vitamini eksikliği","Ailesel izole E vitamini eksikliği","İzole E vitamini eksikliği ile seyreden ataksi"]}},"xrefs":[{"source":"OMIM","code":"277460","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1011034743"},{"source":"MONDO","code":"0010188","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535393","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848533","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8595","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088735","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TTPA","name":"alpha tocopherol transfer protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12404","ensembl":"ENSG00000137561","omim":"600415","loci":["8q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-05-13","source":"20301419[PMID]_20464573[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100513","label":"Low levels of vitamin E","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002599","label":"Head titubation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}