{"orpha":512260,"name":"Congenital cerebellar ataxia due to RNU12 mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-512260/","orphanet_url":"https://www.orpha.net/en/disease/detail/512260","names":{"fr":{"name":"Ataxie cérébelleuse congénitale due à une mutation de RNU12","definition":"Ataxie héréditaire rare caractérisée par un retard d'acquisition des principales étapes du développement moteur pendant la petite enfance, une hypotonie, une démarche ataxique, des tremblements intentionnels, un nystagmus, une dysarthrie et différentes difficultés d'apprentissage. L'imagerie cérébrale met en évidence un tableau mixte d'hypoplasie cérébelleuse et de dégénérescence, avec l'absence quasi complète du lobule inférieur et un folium du vermis très fin. Par ailleurs, le volume de la grande citerne et du quatrième ventricule est augmenté, mais celui du tronc cérébral est normal."},"de":{"name":"Kongenitale zerebelläre Ataxie durch RNU12-Genmutation","definition":"Eine seltene hereditäre Ataxie, die durch verzögerte motorische Meilensteine in der frühen Kindheit, Hypotonie, ataktischen Gang, Intentionstremor, Nystagmus, Sprachstörungen und variable Lernschwierigkeiten gekennzeichnet ist. Die neurologische Bildgebung zeigt ein gemischtes Bild von Kleinhirnhypoplasie und Degeneration mit einem fast fehlenden unteren Läppchen und einer Ausdünnung der Folia des Vermis. Darüber hinaus sind die Cisterna magna und der vierte Ventrikel vergrößert, während das Volumen des Hirnstamms relativ gering ist."},"es":{"name":"Ataxia cerebelosa congénita por una mutación en el gen RNU12","definition":"Es una ataxia hereditaria poco frecuente caracterizada por un retraso de los hitos motores en la lactancia temprana, hipotonía, marcha atáxica, temblor intencional, nistagmo, habla disártrica y dificultades de aprendizaje variables. La neuroimagen muestra un cuadro mixto de hipoplasia y degeneración cerebelosa, con ausencia casi total del lóbulo inferior y adelgazamiento de las folias del vermis. Además, la cisterna magna y el cuarto ventrículo están dilatados con una relativa conservación del volumen del tronco encefálico."},"it":{"name":"Atassia cerebellare congenita da mutazione di RNU12","definition":"Si tratta di un'atassia ereditaria rara, caratterizzata da ritardo dello sviluppo motorio nella prima infanzia, ipotonia, andatura atassica, tremore intenzionale, nistagmo, disartria e difficoltà di apprendimento di gravità variabile. Le neuroimmagini mostrano una ipoplasia e una degenerazione cerebellare, con l'assenza pressoché completa del lobulo inferiore e l'assottigliamento dei folia del verme. Inoltre, si osserva un allargamento della cisterna magna e del quarto ventricolo, mentre il volume del tronco encefalico è relativamente conservato."},"nl":{"name":"Congenitale cerebellaire ataxie door RNU12-mutatie","definition":"Een zeldzame hereditaire ataxie, gekarakteriseerd door vertraging van motorische mijlpalen in de vroege zuigelingentijd, hypotonie, ataxische gang, intentietremor, nystagmus, dysartrische spraak, en variabele leermoeilijkheden. Beeldvorming van hersenen toont een gemengd beeld van cerebellaire hypoplasie en degeneratie, met een nagenoeg afwezige lobulus inferior en verdunning van folia van vermis. Daarbovenop zijn cisterna magna en vierde ventrikel vergroot, waarbij het volume van de hersenstam relatief gespaard blijft."},"pt":{"name":"Ataxia cerebelosa congénita por mutação RNU12"},"pl":{"name":"Wrodzona ataksja (niezborność) móżdżkowa wywołana mutacją genu RNU12"},"cs":{"name":"Vrozená ataxie mozečku způsobená mutací RNU12"},"uk":{"name":"Вроджена мозочкова атаксія, зумовлена мутацієюї RNU12","definition":"A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume."},"zh":{"name":"RNU12基因突变所致先天性小脑共济失调","definition":"一种罕见的遗传性共济失调，其特征是婴儿早期运动指标延迟，肌张力低下，共济失调步态，意向性震颤，眼球震颤，言语障碍，以及各种学习困难。神经影像学检查显示小脑发育不全和退化，小脑蚓下小叶几乎缺如并且脑叶变薄。此外，小脑延髓池和第四脑室增大，脑干体积相对缩小。"},"tr":{"name":"RNU12 mutasyonuna bağlı doğumsal serebellar ataksi"}},"xrefs":[{"source":"OMIM","code":"620208","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567894","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":"RNU12","name":"RNA, U12 small nuclear","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27863452[PMID]","hgnc":"19380","ensembl":"ENSG00000276027","omim":"620204","loci":["22q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"27863452[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27863452[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-21","source":"27863452[PMID]","terms":[{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","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:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012759","label":"Neurodevelopmental abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Excluded (0%)","criteria":null}]}}