{"orpha":98764,"name":"Spinocerebellar ataxia type 27A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA27A"],"definition":"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98764/","orphanet_url":"https://www.orpha.net/en/disease/detail/98764","names":{"fr":{"name":"Ataxie spinocérébelleuse type 27A","synonyms":["SCA27A"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 27 est une forme très rare, d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par un tremblement précoce, des dyskinésies et une ataxie cérébelleuse lentement évolutive."},"de":{"name":"Ataxie, spinozerebelläre, Typ 27A","synonyms":["SCA27A"],"definition":"Die Spinozerebelläre Ataxie Typ 27 (SCA27) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch früh auftretenden Tremor, Dyskinesie und langsam progrediente zerebelläre Ataxie."},"es":{"name":"Ataxia espinocerebelosa tipo 27A","synonyms":["SCA27A"],"definition":"La ataxia espinocerebelosa tipo 27 (SCA27) es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por temblor de aparición temprana, discinesia, y ataxia cerebelosa de progresión lenta."},"it":{"name":"Atassia spinocerebellare tipo 27A","synonyms":["SCA27A","SCA27"],"definition":"L'atassia spinocerebellare tipo 27 (SCA27) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da tremore ad esordio precoce, discinesia e atassia cerebellare a progressione lenta."},"nl":{"name":"Spinocerebellaire ataxie type 27A","synonyms":["SCA27A"],"definition":"Spinocerebellaire ataxie type 27 (SCA27) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door tremor op jonge leeftijd, dyskinesie, en langzaam progressieve cerebellaire ataxie."},"pt":{"name":"Ataxia espinocerebelosa tipo 27A","synonyms":["SCA27A"],"definition":"A ataxia espinocerebelosa tipo 27 (SCA27) é um subtipo raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). É caracterizada pelo início precoce de tremor, discinesias e ataxia cerebelosa lentamente progressiva."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 27","synonyms":["SCA27"]},"cs":{"name":"Spinocerebelární ataxie, typ 27","synonyms":["SCA27"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 27","synonyms":["SCA27"],"definition":"Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia."},"zh":{"name":"脊髓小脑共济失调27型","synonyms":["SCA27"],"definition":"脊髓小脑共济失调27型(SCA27)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)的一种非常罕见的亚型。以早发性震颤、运动障碍和缓慢进行性小脑性共济失调为特征。"},"tr":{"name":"Spinoserebellar ataksi tip 27","synonyms":["SCA27"]}},"xrefs":[{"source":"OMIM","code":"193003","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":"1408059647"},{"source":"MONDO","code":"0012247","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836383","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FGF14","name":"fibroblast growth factor 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3671","ensembl":"ENSG00000102466","omim":"601515","loci":["13q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-16","source":"15470364[PMID]_12489043[PMID]_22579694[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000642","label":"Red-green dyschromatopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Very rare (<4-1%)","criteria":null}]}}