{"orpha":453521,"name":"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCAR17","Spinocerebellar ataxia autosomal recessive type 17"],"definition":"A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-453521/","orphanet_url":"https://www.orpha.net/en/disease/detail/453521","names":{"fr":{"name":"Ataxie cérébelleuse congénitale autosomique récessive par déficit en CWF19L1","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 17","SCAR17"],"definition":"Ataxie cérébelleuse autosomique récessive rare caractérisée par l'apparition précoce d'une atrophie cérébelleuse lentement progressive, dont les signes cliniques incluent notamment une ataxie des membres et du tronc, un retard global du développement, une déficience intellectuelle, un nystagmus, une dysarthrie, un tremblement d'intention et des atteintes du système pyramidale."},"de":{"name":"Zerebelläre Ataxie, autosomal-rezessive, durch CWF19L1-Mangel","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 17","SCAR17"],"definition":"Eine autosomal-rezessive zerebelläre Ataxie, die durch ein frühes Auftreten einer langsam fortschreitenden Kleinhirnatrophie gekennzeichnet ist und sich klinisch u. a. durch Extremitäten- und Rumpfataxie, globale Entwicklungsverzögerung, intellektuelle Beeinträchtigung, Nystagmus, Dysarthrie, Intentionstremor und Pyramidenzeichen äußert."},"es":{"name":"Ataxia cerebelosa autosómica recesiva por deficiencia de CWF19L1","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 17","SCAR17"],"definition":"Es una ataxia cerebelosa autosómica recesiva poco frecuente caracterizada por una atrofia cerebelosa lentamente progresiva de inicio temprano, que se manifiesta clínicamente con ataxia truncal y de las extremidades, retraso global del desarrollo, discapacidad intelectual, nistagmo, disartria, temblor intencional y signos piramidales, entre otros."},"it":{"name":"Atassia cerebellare autosomica recessiva da deficit di CWF19L1","synonyms":["Atassia spinocerebellare autosomica recessiva, tipo 17","SCAR17"],"definition":"Si tratta di un'atassia cerebellare autosomica recessiva rara, caratterizzata da atrofia cerebellare ad esordio precoce e progressione lenta, che si manifesta con atassia degli arti e del tronco, ritardo dello sviluppo globale, disabilità intellettiva, nistagmo, disartria, tremore intenzionale e segni piramidali."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie als gevolg van CWF19L1-deficiëntie","synonyms":["SCAR17","Spinocerebellaire ataxie autosomaal recessief type 17"],"definition":"Een zeldzame autosomaal recessieve cerebellaire ataxie, gekarakteriseerd door vroege aanvang van traag progressieve cerebellaire atrofie, en met als klinische manifestaties onder meer ataxie van ledematen en romp, algehele ontwikkelingsachterstand, intellectuele functiestoornis, nystagmus, dysartrie, intentietremor, en piramidale tekenen."},"pt":{"name":"Ataxia cerebelosa autossómica recessiva por défice de CWF19L1"},"pl":{"name":"Autosomalna recesywna ataksja móżdżkowa spowodowana niedoborem CWF19L1","synonyms":["Ataksja rdzeniowo-móżdżkowa autosomalna recesywna typu 17","SCAR17"]},"cs":{"name":"Autozomálně recesivní cerebelární ataxie způsobená deficitem CWF19L1","synonyms":["SCAR17","Spinocerebelární ataxie, autozomálně recesivní, typ 17"]},"uk":{"name":"Аутосомно-рецесивна мозочкова атаксія, зумовлена дефіцитом CWF19L1","synonyms":["SCAR17","Спіноцеребеллярна атаксія, аутосомно-рецесивний тип 17"],"definition":"A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others."},"zh":{"name":"CWF19L1缺失相关常染色体隐性小脑共济失调","synonyms":["常染色体隐性脊髓小脑共济失调17型"],"definition":"一种罕见的常染色体隐性小脑共济失调，其特征是早期发作的缓慢进行性小脑萎缩，临床表现为四肢和躯干共济失调，整体发育迟缓，智力障碍，眼球震颤，构音障碍，意向性震颤和锥体束征等"},"tr":{"name":"CWF19L1 eksikliğine bağlı otozomal resesif serebellar ataksi","synonyms":["SCAR17","Spinoserebellar ataksi otozomal çekinik tip 17"]}},"xrefs":[{"source":"OMIM","code":"616127","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014503","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015301","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98095,"name":"Autosomal recessive congenital cerebellar ataxia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CWF19L1","name":"CWF19 like cell cycle control factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25361784[PMID]","hgnc":"25613","ensembl":"ENSG00000095485","omim":"616120","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"15981765[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15981765[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-21","source":"25361784[PMID]_27016154[PMID]_26197978[PMID]_15981765[PMID]","terms":[{"hpo":"HP:0009617","label":"Abnormality of the distal phalanx of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040196","label":"Mild microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031435","label":"Monotonic speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002470","label":"Nonprogressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null}]}}