{"orpha":98768,"name":"Spinocerebellar ataxia type 13","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA13"],"definition":"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98768/","orphanet_url":"https://www.orpha.net/en/disease/detail/98768","names":{"fr":{"name":"Ataxie spinocérébelleuse type 13","synonyms":["SCA13"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 13 est une forme très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I. Elle est caractérisée par son début dans l'enfance, marqué par un retard du développement moteur et cognitif suivi par une ataxie cérébelleuse de progression discrète."},"de":{"name":"Ataxie, spinozerebelläre, Typ 13","synonyms":["SCA13"],"definition":"Die Spinozerebelläre Ataxie Typ 13 (SCA13) ist ein seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch Beginn im Kindesalter mit verlangsamter motorischer und kognitiver Entwicklung, gefolgt von langsam progredienter zerebellärer Ataxie."},"es":{"name":"Ataxia espinocerebelosa tipo 13","synonyms":["SCA13"],"definition":"La ataxia espinocerebelosa tipo 13 (SCA13) es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por una apareción en la infancia marcada por un retraso motor y en el desarrollo cognitivo seguido por una ataxia cerebelosa de progresión leve."},"it":{"name":"Atassia spinocerebellare, tipo 13","synonyms":["SCA13"],"definition":"L'atassia spinocerebellare tipo 13 (SCA13) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si vedano questi termini)."},"nl":{"name":"Spinocerebellaire ataxie type 13","synonyms":["SCA13"],"definition":"Spinocerebellaire ataxie type 13 (SCA13) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door aanvang in de kindertijd van vertraagde motorische en cognitieve ontwikkeling gevolgd door milde progressie van cerebellaire ataxie."},"pt":{"name":"Ataxia espinocerebelosa tipo 13","synonyms":["SCA13"],"definition":"A ataxia espinocerebelosa tipo 13 (SCA13) é um subtipo raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). Caracteriza-se por início na infância marcada por atraso motor e desenvolvimento cognitivo seguido pela progressão ligeira de ataxia cerebelosa."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 13","synonyms":["SCA13"]},"cs":{"name":"Spinocerebelární ataxie, typ 13","synonyms":["SCA13"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 13","synonyms":["SCA13"],"definition":"Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia."},"zh":{"name":"脊髓小脑共济失调13型","synonyms":["SCA13"],"definition":"脊髓小脑共济失调13型(SCA13)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。它的特点是在儿童时期起病，运动和认知发育迟缓，随后小脑共济失调缓慢进展。"},"tr":{"name":"Spinoserebellar ataksi tip 13","synonyms":["SCA13"]}},"xrefs":[{"source":"OMIM","code":"605259","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":"1191033828"},{"source":"MONDO","code":"0011529","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854488","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9611","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":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"KCNC3","name":"potassium voltage-gated channel subfamily C member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6235","ensembl":"ENSG00000131398","omim":"176264","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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":"2018-04-17","source":"10820125[PMID]_16135769[PMID]_23912307[PMID]_25981959[PMID]","terms":[{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","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:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006886","label":"Impaired distal vibration sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030187","label":"Titubation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008003","label":"Jerky ocular pursuit movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Very rare (<4-1%)","criteria":null}]}}