{"orpha":209967,"name":"Episodic ataxia type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209967/","orphanet_url":"https://www.orpha.net/en/disease/detail/209967","names":{"fr":{"name":"Ataxie épisodique type 6","definition":"Forme extrêmement rare d'ataxie épisodique héréditaire accompagnée d'une ataxie de degrés variables et de symptômes associées, notamment des troubles de l'élocution, des maux de tête, une confusion et une hémiplégie."},"de":{"name":"Ataxie, episodische, Typ 6"},"es":{"name":"Ataxia episódica tipo 6","definition":"Es una forma extremadamente infrecuente de ataxia episódica hereditaria con diversos grados de ataxia y hallazgos asociados que incluyen dificultad para hablar, cefalea, confusión y hemiplejía."},"it":{"name":"Atassia episodica, tipo 6"},"nl":{"name":"Episodische ataxie type 6","definition":"Episodische ataxie type 6 (EA6) is een uiterst zeldzame vorm van erfelijke episodische ataxie (zie deze term) met ataxie in variërende mate en geassocieerde bevindingen waaronder onbegrijpelijk spreken, hoofdpijn, verwarring en hemiplegie."},"pt":{"name":"Ataxia episódica tipo 6"},"pl":{"name":"Ataksja epizodyczna typu 6"},"cs":{"name":"Epizodická ataxie, typ 6"},"uk":{"name":"Епізодична атаксія, тип 6","definition":"Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia."},"zh":{"name":"发作性共济失调6型","definition":"发作性共济失调6型（EA6）是一种极罕见的遗传性发作性共济失调（见该术语），其主要临床表现为不同程度的共济失调和相关症状，包括口齿不清、头痛、意识障碍和偏瘫。"},"tr":{"name":"Epizodik ataksi tip 6"}},"xrefs":[{"source":"OMIM","code":"612656","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":"1493336901"},{"source":"MONDO","code":"0012982","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567207","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675211","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":"SLC1A3","name":"solute carrier family 1 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19139306[PMID]","hgnc":"10941","ensembl":"ENSG00000079215","omim":"600111","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19139306[PMID]_16116111[PMID]_23107647[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-09","source":"19139306[PMID]_16116111[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002183","label":"Phonophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null}]}}