{"orpha":217012,"name":"Spinocerebellar ataxia type 31","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA31"],"definition":"An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217012/","orphanet_url":"https://www.orpha.net/en/disease/detail/217012","names":{"fr":{"name":"Ataxie spinocérébelleuse type 31","synonyms":["SCA31"],"definition":"Ataxie cérébelleuse autosomique dominante type III caractérisée par une ataxie d'apparition tardive, une dysarthrie, un nystagmus fixe horizontal et plus rarement par des signes pyramidaux et des tremblements, une altération du sens vibratoire et des troubles de l'audition."},"de":{"name":"Ataxie, spinozerebelläre, Typ 31","synonyms":["SCA31"],"definition":"Spinozerebelläre Ataxie Typ 31 (SCA31) ist ein sehr seltener Subtyp der autosomal-dominanten zerebellären Ataxie Typ 3 und durch späten Beginn einer zerebellären Ataxie, Dysarthrie und horizontalen Blickrichtungsnystagmus charakterisiert. Gelegentlich treten Pyramidenbahnzeichen, Tremor, Pallhypästhesie und Schwerhörigkeit auf."},"es":{"name":"Ataxia espinocerebelosa tipo 31","synonyms":["SCA31"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo III caracterizada por la aparición tardía de ataxia, disartria y nistagmo horizontal, y ocasionalmente acompañada de signos piramidales, temblor, deterioro de la sensibilidad vibratoria y dificultades auditivas."},"it":{"name":"Atassia spinocerebellare tipo 31","synonyms":["SCA31"],"definition":"L'atassia spinocerebellare tipo 31 (SCA31) è una forma di atassia cerebellare autosomica dominate tipo III, caratterizzata da atassia ad esordio tardivo, disartria e nistagmo orizzontale, occasionalmente associati a segni piramidali, tremore, riduzione del senso della vibrazione e problemi di udito."},"nl":{"name":"Spinocerebellaire ataxie type 31","synonyms":["SCA31"],"definition":"Een autosomaal dominante cerebellaire ataxie type III (ADCA type III), gekarakteriseerd door late aanvang van ataxie, dysartrie en horizontale nystagmus, en occasioneel vergezeld van piramidale tekenen, tremor, verminderde vibratiezin en gehoorproblemen."},"pt":{"name":"Ataxia espinocerebelosa tipo 31","synonyms":["SCA31"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 31","synonyms":["SCA31"]},"cs":{"name":"Spinocerebelární ataxie, typ 31","synonyms":["SCA31"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 31","synonyms":["SCA31"],"definition":"An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties."},"zh":{"name":"脊髓小脑共济失调31型","synonyms":["SCA31"],"definition":"一种常染色体显性遗传的小脑共济失调III型，其特征是晚发性共济失调、构音障碍和水平性凝视性眼球震颤，偶尔伴有锥体征、震颤、振动觉下降和听力障碍。"},"tr":{"name":"Spinoserebellar ataksi tip 31","synonyms":["SCA31"]}},"xrefs":[{"source":"OMIM","code":"117210","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"250956064"},{"source":"MONDO","code":"0007296","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861736","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9975","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94148,"name":"Autosomal dominant cerebellar ataxia type III","classifications":[156,181]}],"children":[],"genes":[{"symbol":"BEAN1","name":"brain expressed associated with NEDD4 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17611710[PMID]_19878914[PMID]_22992774[PMID]_20301317[PMID]","hgnc":"24160","ensembl":"ENSG00000166546","omim":"612051","loci":["16q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"22353852[PMID]_24344778[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-27","source":"16780885[PMID]","terms":[{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","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:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}