{"orpha":211067,"name":"Episodic ataxia type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-211067/","orphanet_url":"https://www.orpha.net/en/disease/detail/211067","names":{"fr":{"name":"Ataxie épisodique type 5","definition":"Forme extrêmement rare d'ataxie épisodique héréditaire caractérisée par des épisodes récurrents de vertige et d'ataxie qui durent plusieurs heures."},"de":{"name":"Ataxie, episodische, Typ 5"},"es":{"name":"Ataxia episódica tipo 5","definition":"Es una forma extremadamente infrecuente de ataxia episódica hereditaria caracterizada por episodios recurrentes de vértigo y ataxia de varias horas de duración."},"it":{"name":"Atassia episodica, tipo 5"},"nl":{"name":"Episodische ataxie type 5","definition":"Episodische ataxie type 5 (EA5) is een uiterst zeldzame vorm van erfelijke episodische ataxie (zie deze term) die wordt gekarakteriseerd door terugkerende periodes met vertigo en ataxie die enkele uren aanhouden."},"pt":{"name":"Ataxia episódica tipo 5"},"pl":{"name":"Ataksja epizodyczna typu 5"},"cs":{"name":"Epizodická ataxie, typ 5"},"uk":{"name":"Епізодична атаксія, тип 5","definition":"Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours."},"zh":{"name":"发作性共济失调5型","definition":"发作性共济失调5型（EA5）是一种极为罕见的遗传性发作性共济失调（见该术语），其特征为持续数小时的眩晕和反复发作的共济失调。"},"tr":{"name":"Epizodik ataksi tip 5"}},"xrefs":[{"source":"OMIM","code":"613855","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.14","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2072072482"},{"source":"MONDO","code":"0013464","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566601","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866039","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":211062,"name":"Hereditary episodic ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CACNB4","name":"calcium voltage-gated channel auxiliary subunit beta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10762541[PMID]","hgnc":"1404","ensembl":"ENSG00000182389","omim":"601949","loci":["2q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16100538[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-22","source":"10762541[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null}]}}