{"orpha":404499,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 15","SCAR15","Salih ataxia"],"definition":"An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404499/","orphanet_url":"https://www.orpha.net/en/disease/detail/404499","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle par déficit de RUBCN","synonyms":["Ataxie de Salih","Ataxie spinocérébelleuse autosomique récessive type 15","SCAR15"],"definition":"Ataxie cérébelleuse autosomique récessive héréditaire rare, caractérisée par l'apparition précoce d'une forme légère à modérée d'ataxie des membres et d'une démarche ataxique progressives, d'une dysarthrie modérée à sévère et d'un nystagmus ou d'une poursuite saccadée, fréquemment associée à une épilepsie, à une déficience intellectuelle modérée, à un retard dans l'acquisition du langage et à une hyporéflexie des membres supérieurs. Une hyperréflexie des extrémités inférieures peut également être associée."},"de":{"name":"Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom durch RUBCN-Mangel","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 15","SCAR15","Salih-Ataxie"]},"es":{"name":"Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de RUBCN","synonyms":["Ataxia de Salih","Ataxia espinocerebelosa autosómica recesiva tipo 15","SCAR15"],"definition":"Es un trastorno de ataxia cerebelosa hereditario, autosómico recesivo, muy poco frecuente, caracterizado por un inicio temprano de ataxia progresiva, de leve a moderada, que afecta a las extremidades y a la marcha, disartria de moderada a grave y nistagmo o movimientos sacádicos. Se asocia frecuentemente con epilepsia, discapacidad intelectual moderada, retraso en la adquisición del habla e hiporreflexia de las extremidades superiores. También puede asociarse a hiperreflexia de las extremidades inferiores."},"it":{"name":"Sindrome autosomica recessiva atassia cerebellare-epilessia-disabilità intellettiva da deficit di RUBCN","synonyms":["Atassia di Salih","Atassia spinocerebellare autosomica recessiva, tipo 15","SCAR15"],"definition":"La sindrome autosomica recessiva da deficit di RUBCN, che associa l'atassia cerebellare, l'epilessia e la disabilità intellettiva, è un'atassia cerebellare ereditaria autosomica recessiva molto rara, caratterizzata da atassia lieve-moderata progressiva ad esordio precoce che colpisce gli arti ed è apprezzabile durante la deambulazione, disartria da moderata a grave e nistagmo o movimenti saccadici di inseguimento degli occhi. Spesso si associa ad epilessia, disabilità intellettiva moderata, ritardo nell'acquisizione del linguaggio ed iporeflessia negli arti superiori. Può associarsi ad iperreflessia negli arti inferiori."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie - epilepsie - intellectuele achterstand-syndroom door RUBCN-deficiëntie","synonyms":["Ataxie van Salih","Autosomaal recessieve spinocerebellaire ataxie type 15","SCAR15"],"definition":"Een uiterst zeldzame, autosomaal recessieve, erfelijke cerebellaire ataxie, gekarakteriseerd door vroege aanvang van progressieve, milde tot matige gangataxie en ataxie van ledematen, matige tot ernstige dysartrie, en nystagmus of saccadische volgbewegingen, frequent geassocieerd met epilepsie, matige intellectuele achterstand, vertraagde spraakontwikkeling, en hyporeflexie in de bovenste ledematen. Hyperreflexie in de onderste ledematen kan ook geassocieerd zijn."},"pt":{"name":"Síndrome de ataxia cerebelosa-epilepsia-perturbação do desenvolvimento intelectual autossómica recessiva por défice de RUBCN","synonyms":["Ataxia Salih","Ataxia espinhocerebelosa autossómica recessiva tipo 15","SCAR15"]},"pl":{"name":"Zespół autosomalna recesywna atakcja móżdżkowa-padaczka-niepełnosprawność intelektualna z powodu niedoboru KIAA0226","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 15","SCAR15"]},"cs":{"name":"Syndrom zahrnující autozomálně recesivní cerebelární ataxii, epilepsii a mentální retardaci, způsobený deficitem KIAA0226","synonyms":["Autozomálne recesivní spinocerebelární ataxie, typ 15","SCAR15","Autozomálně recesivní spinocerebelární ataxie, typ 15"]},"uk":{"name":"Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності, зумовленої дефіцитом RUBCN","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія типу 15","Атаксія Саліха","SCAR15"],"definition":"An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated."},"zh":{"name":"RUBCN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":["萨利赫共济失调"],"definition":"一种极为罕见的常染色体隐性遗传性小脑共济失调疾病，其特征在于早期发作的进行性，轻度至中度步态和肢体共济失调，中度至重度构音障碍，眼球震颤或眼扫视运动，通常与癫痫，中度智力障碍，语言学习延迟，和上肢反射减弱。也可合并下肢反射亢进。"},"tr":{"name":"RUBCN eksikliğine bağlı otozomal resesif serebellar ataksi-epilepsi-zihinsel yetersizlik sendromu","synonyms":["Otozomal çekinik spinoserebellar ataksi tip 15","SCAR15","Salih ataksi"]}},"xrefs":[{"source":"OMIM","code":"615705","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014311","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810326","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":"RUBCN","name":"rubicon autophagy regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23728897[PMID]","hgnc":"28991","ensembl":"ENSG00000145016","omim":"613516","loci":["3q29"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23728897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23728897[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-20","source":"20826435[PMID]","terms":[{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null}]}}