{"orpha":98773,"name":"Spinocerebellar ataxia type 21","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA21"],"definition":"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98773/","orphanet_url":"https://www.orpha.net/en/disease/detail/98773","names":{"fr":{"name":"Ataxie spinocérébelleuse type 21","synonyms":["SCA21"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 21 est une forme très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une ataxie cérébelleuse lentement évolutive, un déficit cognitif léger, un tremblement d'attitude et/ou de repos, une bradykinésie et une rigidité."},"de":{"name":"Ataxie, spinozerebelläre, Typ 21","synonyms":["SCA21"],"definition":"Die Spinozerebelläre Ataxie Typ 21 (SCA21) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch langsam progrediente zerebelläre Ataxie,milde kognitive Einschränkung, Haltungs- und Ruhetremor, Bradykinesie und Rigor."},"es":{"name":"Ataxia espinocerebelosa tipo 21","synonyms":["SCA21"],"definition":"La ataxia espinocerebelosa tipo 21 es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I). Se caracteriza por ataxia cerebelosa de progresión lenta, deterioro cognitivo leve, temblor postural y/o de reposo, bradicinesia y rigidez."},"it":{"name":"Atassia spinocerebellare, tipo 21","synonyms":["SCA21"],"definition":"L'atassia spinocerebellare tipo 21 (SCA21) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da atassia cerebellare a progressione lenta, lieve deficit cognitivo, tremore posturale e/o a riposo, bradichinesia e rigidità."},"nl":{"name":"Spinocerebellaire ataxie type 21","synonyms":["SCA21"],"definition":"Spinocerebellaire ataxie type 21 (SCA21) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door langzaam progressieve cerebellaire ataxie, milde cognitieve beperkingen, houdings- en/of rusttremor, bradykinesie en stijfheid."},"pt":{"name":"Ataxia espinocerebelosa tipo 21","synonyms":["SCA21"],"definition":"A ataxia espinocerebelosa tipo 21 (SCA21) é um subtipo muito raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). Caracteriza-se por ataxia cerebelosa lentamente progressiva, deficit cognitivo ligeiro, tremor postural e/ou de repouso, bradicinesia e rigidez."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 21","synonyms":["SCA21"]},"cs":{"name":"Spinocerebelární ataxie, typ 21","synonyms":["SCA21"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 21","synonyms":["SCA21"],"definition":"Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity."},"zh":{"name":"脊髓小脑共济失调21型","synonyms":["SCA21"],"definition":"脊髓小脑共济失调21型(SCA21)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。它的特点是缓慢进行性小脑共济失调，轻度认知障碍，姿势和/或静止性震颤，运动迟缓和僵硬。"},"tr":{"name":"Spinoserebellar ataksi tip 21","synonyms":["SCA21"]}},"xrefs":[{"source":"OMIM","code":"607454","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1426889593"},{"source":"MONDO","code":"0011833","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537200","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843891","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9999","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":"TMEM240","name":"transmembrane protein 240","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25070513[PMID]","hgnc":"25186","ensembl":"ENSG00000205090","omim":"616101","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"26813285[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26813285[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-27","source":"18418688[PMID]_25070513[PMID]","terms":[{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007944","label":"Intermittent microsaccadic pursuits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null}]}}