{"orpha":211017,"name":"Spinocerebellar ataxia type 30","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA30"],"definition":"An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-211017/","orphanet_url":"https://www.orpha.net/en/disease/detail/211017","names":{"fr":{"name":"Ataxie spinocérébelleuse type 30","synonyms":["SCA30"],"definition":"Ataxie cérébelleuse autosomique dominante type III caractérisée par une ataxie cérébelleuse relativement pure de progression lente."},"de":{"name":"Ataxie, spinozerebelläre, Typ 30","synonyms":["SCA30"],"definition":"Spinozerebelläre Ataxie Typ 30 (SCA30) ist ein sehr seltener Subtyp der autosomal-dominanten zerebellären Ataxie Typ 3 und ist durch langsam progrediente und eigentlich reine Ataxie charakterisiert."},"es":{"name":"Ataxia espinocerebolosa tipo 30","synonyms":["SCA30"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo III caracterizada por ataxia relativamente pura y de progresión lenta."},"it":{"name":"Atassia spinocerebellare tipo 30","synonyms":["SCA30"],"definition":"L'atassia spinocerebellare tipo 30 (SCA30) è una forma di atassia cerebellare autosomica dominate tipo III, caratterizzata da atassia relativamente pura a progressione lenta."},"nl":{"name":"Spinocerebellaire ataxie type 30","synonyms":["SCA30"],"definition":"Een autosomaal dominante cerebellaire ataxie type III (ADCA type III), gekarakteriseerd door een traag progressieve en relatief zuivere ataxie."},"pt":{"name":"Ataxia espinocerebelosa tipo 30","synonyms":["SCA30"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 30","synonyms":["SCA30"]},"cs":{"name":"Spinocerebelární ataxie, typ 30","synonyms":["SCA30"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 30","synonyms":["SCA30"],"definition":"An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia."},"zh":{"name":"脊髓小脑共济失调30型","synonyms":["SCA30"],"definition":"脊髓小脑共济失调30型是一种以缓慢进行且相对单纯的共济失调为特征的Ⅲ型小脑共济失调，多以常染色体显性方式遗传。"},"tr":{"name":"Spinoserebellar ataksi tip 30","synonyms":["SCA30"]}},"xrefs":[{"source":"OMIM","code":"613371","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":"716324960"},{"source":"MONDO","code":"0013241","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C575214","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936793","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4950","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":"SCA30","name":"spinocerebellar ataxia 30","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18996908[PMID]","hgnc":"33445","ensembl":null,"omim":null,"loci":["4q34.3-q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"18996908[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18996908[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-27","source":"18996908[PMID]","terms":[{"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:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Occasional (29-5%)","criteria":null}]}}