{"orpha":64753,"name":"Spinocerebellar ataxia with axonal neuropathy type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AOA2","Ataxia-oculomotor apraxia type 2","SCAN 2","SCAR1"],"definition":"A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64753/","orphanet_url":"https://www.orpha.net/en/disease/detail/64753","names":{"fr":{"name":"Syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 2","synonyms":["AOA2","SCAR1","Syndrome d'ataxie-apraxie oculo-motrice type 2"],"definition":"Ataxie cérébelleuse récessive autosomique rare (ARCA), caractérisée par une ataxie cérébelleuse progressive associée à une apraxie oculomotrice fréquente, une neuropathie sévère et un taux sérique élevé d'alpha-foetoprotéines (AFP)."},"de":{"name":"Spinozerebelläre Ataxie mit axonaler Neuropathie Typ 2","synonyms":["AOA2","Ataxie mit okulomotorischer Apraxie Typ 2","SCAN 2","SCAR1"],"definition":"Eine autosomal-rezessive zerebelläre Ataxie (ARCA), die durch eine progressive zerebelläre Ataxie mit häufiger okulomotorischer Apraxie, schwerer Neuropathie und einem erhöhten Alpha-Fetoprotein (AFP)-Serumspiegel gekennzeichnet ist."},"es":{"name":"Ataxia espinocerebelosa con neuropatía axonal tipo 2","synonyms":["AOA2","Ataxia-apraxia oculomotora tipo 2","SCAN 2","SCAR1"],"definition":"Es una ataxia cerebelosa autosómica recesiva (ACAR) poco frecuente caracterizada por ataxia cerebelosa progresiva asociada a apraxia oculomotora frecuente, neuropatía grave y niveles elevados de alfa-fetoproteína sérica (AFP)."},"it":{"name":"Atassia spinocerebellare associata alla neuropatia assonale tipo 2","synonyms":["Atassia - aprassia oculomotoria, tipo 2 (AOA2)","SCAN 2","SCAR1"],"definition":"Si tratta di un'atassia cerebellare autosomica recessiva (ARCA) rara, caratterizzata da atassia cerebellare progressiva associata a una frequente aprassia oculomotoria, a neuropatia grave e a livelli elevati di alfa-fetoproteina (AFP) nel siero."},"nl":{"name":"Spinocerebellaire ataxie met axonale neuropathie type 2","synonyms":["AOA2","Ataxie - oculomotorische apraxie type 2","SCAN 2","SCAR1"],"definition":"Een zeldzame autosomaal recessieve cerebellaire ataxie (ARCA), gekarakteriseerd door progressieve cerebellaire ataxie geassocieerd met frequente oculomotorische apraxie, ernstige neuropathie en een verhoogd gehalte van alfafoetoproteïne (AFP) in serum."},"pt":{"name":"Ataxia espinocerebelosa com neuropatia axonal tipo 2","synonyms":["AOA2","Ataxia-apraxia oculo-motora tipo 2","SCAN 2"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa z neuropatią aksonalną typu 2","synonyms":["AOA2","SCAR1","SCAN 2","Ataksja - apraksja okulomotoryczna typu 2"],"definition":"Rzadka ataksja móżdżkowa (ARCA) o dziedziczeniu autosomalnym recesywnym, charakteryzująca się postępującą ataksją móżdżkową z często towarzyszącą apraksją okoruchową, ciężką neuropatią i podwyższonym poziomem alfa-fetoproteiny (AFP) w surowicy."},"cs":{"name":"Spinocerebelární ataxie s axonální neuropatií, typ 2","synonyms":["AOA2","Ataxie a okulomotorická apraxie, typ 2","SCAN 2","SCAR1"]},"uk":{"name":"Спіноцеребеллярна атаксія з аксональною нейропатією, тип 2","synonyms":["AOA2","Атаксія-окуломоторна апраксія типу 2","SCAN 2","SCAR1 1"],"definition":"A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level."},"zh":{"name":"脊髓小脑共济失调伴轴突性神经病2型","synonyms":["共济失调-动眼运用不能2型"]},"tr":{"name":"Aksonal nöropati tip 2 ile seyreden spinoserebellar ataksi","synonyms":["AOA2","SCAR1","TARAMA 2","Ataksi-okülomotor apraksi tip 2"]}},"xrefs":[{"source":"OMIM","code":"606002","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615217","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C82.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"907196820"},{"source":"MONDO","code":"0018996","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18996","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853761","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12860","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":98497,"name":"Genetic peripheral neuropathy","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":"SETX","name":"senataxin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301333[PMID]_14770181[PMID]","hgnc":"445","ensembl":"ENSG00000107290","omim":"608465","loci":["9q34.13"]},{"symbol":"PIK3R5","name":"phosphoinositide-3-kinase regulatory subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22065524[PMID]","hgnc":"30035","ensembl":"ENSG00000141506","omim":"611317","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"France","status":"Validated","source":"19440741[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-05","source":"14770181[PMID]_19696032[PMID]_14736755[PMID]_18350359[PMID]","terms":[{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Occasional (29-5%)","criteria":null}]}}