{"orpha":1168,"name":"Ataxia-oculomotor apraxia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AOA1"],"definition":"A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1168/","orphanet_url":"https://www.orpha.net/en/disease/detail/1168","names":{"fr":{"name":"Syndrome d'ataxie-apraxie oculo-motrice type 1","synonyms":["AOA1"],"definition":"Ataxie cérébelleuse autosomique récessive rare, caractérisée par une ataxie cérébelleuse progressive associée à une apraxie oculomotrice, une neuropathie sévère et une hypoalbuminémie."},"de":{"name":"Ataxie mit okulomotorischer Apraxie Typ 1","synonyms":["AOA1"],"definition":"Eine seltene autosomal-rezessive Kleinhirnataxie, die durch eine progressive Kleinhirnataxie in Verbindung mit okulomotorischer Apraxie, schwerer Neuropathie und Hypoalbuminämie gekennzeichnet ist."},"es":{"name":"Ataxia-apraxia oculomotora tipo 1","synonyms":["AOA1"],"definition":"Es una ataxia cerebelosa autosómica recesiva poco frecuente caracterizada por ataxia cerebelosa progresiva asociada a apraxia oculomotora, neuropatía grave e hipoalbuminemia."},"it":{"name":"Atassia-aprassia oculomotoria tipo 1","synonyms":["AOA"],"definition":"L'atassia-aprassia oculomotoria tipo 1 (AOA1) è un'atassia cerebellare autosomica recessiva rara, caratterizzata da atassia cerebellare progressiva associata ad aprassia oculomotoria, neuropatia grave e ipoalbuminemia."},"nl":{"name":"Ataxie - oculomotorische apraxie type 1","synonyms":["AOA1"],"definition":"Een zeldzame, autosomaal recessieve cerebellaire ataxie, gekarakteriseerd door progressieve cerebellaire ataxie geassocieerd met oculomotorische apraxie, ernstige neuropathie, en hypoalbuminemie."},"pt":{"name":"Ataxia-apraxia oculo-motora tipo 1","synonyms":["AOA"]},"pl":{"name":"Ataksja - apraksja gałkoruchowa typu 1","synonyms":["AOA1"]},"cs":{"name":"Ataxie a okulomotorická apraxie, typ 1","synonyms":["AOA1"]},"uk":{"name":"Атаксія-окуломоторна апраксія, тип 1","synonyms":["AOA1"],"definition":"A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia."},"zh":{"name":"共济失调动眼运用不能I型","synonyms":["AOA1型"]},"tr":{"name":"Ataksi-okülomotor apraksi tip 1","synonyms":["AOA1"]}},"xrefs":[{"source":"OMIM","code":"208920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1071655898"},{"source":"MONDO","code":"0008842","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538013","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859598","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9283","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98097,"name":"Autosomal recessive cerebellar ataxia due to a DNA repair defect","classifications":[156,181]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"APTX","name":"aprataxin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301629[PMID]","hgnc":"15984","ensembl":"ENSG00000137074","omim":"606350","loci":["9p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010747","label":"Medial flaring of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null}]}}