{"orpha":98767,"name":"Spinocerebellar ataxia type 11","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA11"],"definition":"A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98767/","orphanet_url":"https://www.orpha.net/en/disease/detail/98767","names":{"fr":{"name":"Ataxie spinocérébelleuse type 11","synonyms":["SCA11"],"definition":"Maladie neurologique rare qui se caractérise par l'apparition précoce de signes du dysfonctionnement cérébelleux, d'anomalies des mouvements oculaires et de signes d'atteinte pyramidale."},"de":{"name":"Ataxie, spinozerebelläre, Typ 11","synonyms":["SCA11"],"definition":"Eine seltene neurologische Erkrankung, die durch das frühe Auftreten von Kleinhirnzeichen, Augenbewegungsstörungen und Pyramidenzeichen gekennzeichnet ist."},"es":{"name":"Ataxia espinocerebelosa tipo 11","synonyms":["SCA11"],"definition":"La ataxia espinocerebelosa tipo 11 (SCA11) es una enfermedad neurológica poco frecuente caracterizada por la aparición temprana de signos cerebelosos, anomalías de los movimientos oculares y signos piramidales."},"it":{"name":"Atassia spinocerebellare, tipo 11","synonyms":["SCA11"],"definition":"L'atassia spinocerebellare tipo 11 (SCA11) è una malattia neurologica rara, caratterizzata da segni cerebellari ad esordio precoce, anomalie dei movimenti oculari e segni piramidali."},"nl":{"name":"Spinocerebellaire ataxie type 11","synonyms":["SCA11"],"definition":"Een zeldzame, neurologische ziekte, gekarakteriseerd door vroege aanvang van cerebellaire tekenen, afwijkende oogbewegingen en piramidale tekenen."},"pt":{"name":"Ataxia espinocerebelosa tipo 11","synonyms":["SCA11"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 11","synonyms":["SCA11"]},"cs":{"name":"Spinocerebelární ataxie, typ 11","synonyms":["SCA11"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 11","synonyms":["SCA11"],"definition":"A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs."},"zh":{"name":"脊髓小脑共济失调11型","synonyms":["SCA11"],"definition":"一种罕见的神经系统疾病，以早发性小脑征、眼球运动异常和锥体体征为特征。"},"tr":{"name":"Spinoserebellar ataksi tip 11","synonyms":["SCA11"]}},"xrefs":[{"source":"OMIM","code":"604432","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"743674840"},{"source":"MONDO","code":"0011464","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565772","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858351","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10475","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94148,"name":"Autosomal dominant cerebellar ataxia type III","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TTBK2","name":"tau tubulin kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301317[PMID]","hgnc":"19141","ensembl":"ENSG00000128881","omim":"611695","loci":["15q15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":51.0,"area":"Worldwide","status":"Validated","source":"21827911[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21827911[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-25","source":"20301723[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008003","label":"Jerky ocular pursuit movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010544","label":"Vertical nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null}]}}