{"orpha":98763,"name":"Spinocerebellar ataxia type 14","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA14"],"definition":"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98763/","orphanet_url":"https://www.orpha.net/en/disease/detail/98763","names":{"fr":{"name":"Ataxie spinocérébelleuse type 14","synonyms":["SCA14"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 14 est une forme légère et rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une ataxie lentement progressive avec dysarthrie et nystagmus."},"de":{"name":"Ataxie, spinozerebelläre, Typ 14","synonyms":["SCA14"],"definition":"Die Spinozerebelläre Ataxie Typ 14 (SCA14) ist ein seltener, milder Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch langsam progrediente Ataxie, Dysarthrie und Nystagmus."},"es":{"name":"Ataxia espinocerebelosa tipo 14","synonyms":["SCA14"],"definition":"La ataxia espinocerebelosa tipo 14 (SCA14) es un subtipo leve y poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I; consulte este término). Se caracteriza por ataxia de progresión lenta, disartria y nistagmo."},"it":{"name":"Atassia spinocerebellare, tipo 14","synonyms":["SCA14"],"definition":"L'atassia spinocerebellare tipo 14 (SCA14) è un raro sottotipo moderato dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da atassia a progressione lenta, disartria e nistagmo."},"nl":{"name":"Spinocerebellaire ataxie type 14","synonyms":["SCA14"],"definition":"Spinocerebellaire ataxie type 14 (SCA14) is een zeldzaam, mild subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door langzaam progressieve ataxie, dysartrie en nystagmus."},"pt":{"name":"Ataxia espinocerebelosa tipo 14","synonyms":["SCA14"],"definition":"A ataxia espinocerebelosa tipo 14 (SCA14) é um subtipo raro ligeiro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). É caracterizada por ataxia lentamente progressiva, disartria e nistagmo."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 14","synonyms":["SCA14"]},"cs":{"name":"Spinocerebelární ataxie, typ 14","synonyms":["SCA14"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 14","synonyms":["SCA14"],"definition":"Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus."},"zh":{"name":"脊髓小脑共济失调14型","synonyms":["SCA14"],"definition":"脊髓小脑共济失调14型(SCA14)是一种罕见的I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)的轻度亚型。其特点是缓慢进行性共济失调、构音障碍和眼球震颤。"},"tr":{"name":"Spinoserebellar ataksi tip 14","synonyms":["SCA14"]}},"xrefs":[{"source":"OMIM","code":"605361","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"736357100"},{"source":"MONDO","code":"0011540","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537196","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854369","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9867","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRKCG","name":"protein kinase C gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9402","ensembl":"ENSG00000126583","omim":"176980","loci":["19q13.42"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"20301573[PMID]_[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":"2018-04-13","source":"10939565[PMID]_20301573[PMID]","terms":[{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002600","label":"Hyporeflexia of lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}