{"orpha":404493,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCAR23","Spinocerebellar ataxia autosomal recessive type 23"],"definition":"A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404493/","orphanet_url":"https://www.orpha.net/en/disease/detail/404493","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle par déficit de TUD","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 23","SCAR23"],"definition":"Ataxie héréditaire rare caractérisée par l'apparition précoce d'une épilepsie généralisée symptomatique, d'une ataxie cérébelleuse progressive à l'origine d'importantes difficultés à marcher ou d'une dépendance au fauteuil roulant, ainsi que d'une déficience intellectuelle."},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom durch TUD-Mangel","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 23","SCAR23"]},"es":{"name":"Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de TUD","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 23","SCAR23"],"definition":"Es una ataxia hereditaria poco frecuente, caracterizada por un inicio temprano de epilepsia generalizada sintomática, ataxia cerebelosa progresiva que origina graves dificultades para deambular o dependencia de silla de ruedas, así como discapacidad intelectual."},"it":{"name":"Sindrome autosomica recessiva atassia cerebellare-epilessia-disabilità intellettiva da deficit di TUD","synonyms":["Atassia spinocerebellare autosomica recessiva tipo 23","SCAR23"],"definition":"La sindrome che associa l'atassia cerebellare autosomica recessiva, l'epilessia e la disabilità intellettiva da deficit di TUD è un'atassia ereditaria rara, caratterizzata da epilessia generalizzata sintomatica ad esordio precoce, atassia cerebellare progressiva, che causa gravi difficoltà alla deambulazione o addirittura costringe i pazienti alla sedia a rotelle, e disabilità intellettiva."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie - epilepsie - intellectuele achterstand-syndroom door TUD-deficiëntie","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 23","SCAR23"],"definition":"Een zeldzame, erfelijke ataxie, gekarakteriseerd door een vroeg aanvangende, symptomatische, gegeneraliseerde epilepsie, progressieve cerebellaire ataxie die leidt tot significante moeilijkheden om te stappen of afhankelijkheid van een rolstoel, en intellectuele achterstand."},"pt":{"name":"Síndrome de ataxia cerebelosa-epilepsia-perturbação do desenvolvimento intelectual autossómica recessiva por défice de TUD","synonyms":["Ataxia espinhocerebelosa autossómica recessiva tipo 23","SCAR23"]},"pl":{"name":"Zespół autosomalna recesywna ataksja móżdźkowa-padaczka-niepełnosprawność umysłowa","synonyms":["SCAR23","Spinocerebellar ataxia autosomal recessive type 23"]},"cs":{"name":"Syndrom zahrnující autozomálně recesivní cerebelární ataxii, epilepsii a mentální retardaci, způsobený deficitem TUD","synonyms":["SCAR23","Autozomálně recesivní spinocerebelární ataxie, typ 23"]},"uk":{"name":"Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності зумовленої дефіцитом TUD","synonyms":["SCAR23","Спіноцеребеллярна атаксія, аутосомно-рецесивний тип 23"],"definition":"A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability."},"zh":{"name":"TUD缺乏导致的常染色体隐性遗传小脑共济失调-癫痫-智力障碍综合征","synonyms":["脊髓小脑共济失调常染色体隐性23型"],"definition":"一种罕见的遗传性共济失调，其特征是早期发作的症状性全身性癫痫，进行性小脑共济失调导致行走极度困难或轮椅依赖以及智力残疾。"},"tr":{"name":"TUD eksikliğine bağlı otozomal resesif serebellar ataksi-epilepsi-zihinsel yetersizlik sendromu","synonyms":["SCAR23","Spinoserebellar ataksi otozomal çekinik tip 23"]}},"xrefs":[{"source":"OMIM","code":"616949","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014846","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750914","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":404481,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TDP2","name":"tyrosyl-DNA phosphodiesterase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24658003[PMID]","hgnc":"17768","ensembl":"ENSG00000111802","omim":"605764","loci":["6p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24658003[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24658003[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-10","source":"24658003[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null}]}}