{"orpha":139485,"name":"Autosomal recessive ataxia due to ubiquinone deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARCA2","Autosomal recessive ataxia due to coenzyme Q10 deficiency","Autosomal recessive cerebellar ataxia type 2","Autosomal recessive spinocerebellar ataxia type 9","SCAR9"],"definition":"This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139485/","orphanet_url":"https://www.orpha.net/en/disease/detail/139485","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive par déficit en ubiquinone","synonyms":["ARCA2","Ataxie autosomique récessive par déficit en coenzyme Q10","Ataxie cérébelleuse autosomique récessive type 2","Ataxie spinocérébelleuse autosomique récessive type 9","SCAR9"],"definition":"Ce syndrome se caractérise par une ataxie progressive débutant dans l'enfance et une atrophie cérébelleuse."},"de":{"name":"Ataxie, autosomal-rezessive, durch Ubiquinon-Mangel","synonyms":["ARCA2","Ataxie durch Coenzym Q(10)-Mangel","Ataxie, autosomal-rezessive, 9","SCAR9","Zerebelläre Ataxie, rezessive, 2"],"definition":"Dieses Syndrom ist gekennzeichnet durch in der Kindheit beginnende progrediente Ataxie und Kleinhirnatrophie."},"es":{"name":"Ataxia autosómica recesiva por deficiencia de ubiquinona","synonyms":["ARCA2","Ataxia autosómica recesiva por deficiencia de coenzima Q10","Ataxia cerebelosa recesiva tipo 2","Ataxia espinocerebelosa autosómica recesiva tipo 9","SCAR9"],"definition":"Es un síndrome caracterizado por ataxia progresiva y atrofia cerebelosa de inicio en la infancia."},"it":{"name":"Atassia autosomica recessiva da deficit di ubichinone","synonyms":["ARCA2","Atassia autosomica recessiva da deficit del coenzima Q10","Atassia cerebellare recessiva, tipo 2","Atassia spinocerebellare autosomica recessiva 9","SCAR9"]},"nl":{"name":"Autosomaal recessieve ataxie door ubiquinondeficiëntie","synonyms":["ARCA2","Autosomaal recessieve ataxie door co-enzym Q10-deficiëntie","Autosomaal recessieve cerebellaire ataxie type 2","Autosomaal recessieve spinocerebellaire ataxie type 9","SCAR9"],"definition":"Een syndroom, gekenmerkt door in de kindertijd aanvangende progressieve ataxie en cerebellaire atrofie."},"pt":{"name":"Ataxia autossómica recessiva por deficiência de ubiquinona","synonyms":["Ataxia por deficiência da coenzima Q10 autossómica recessiva"],"definition":"Esta síndrome é caracterizada por ataxia progressiva de apresentação na infância e atrofia cerebelar."},"pl":{"name":"Autosomalna recesywna ataksja z powodu niedoboru ubichinionu","synonyms":["ARCA2","Autosomalna recesywna ataksja móżdżkowo-rdzeniowa-9","Autosomalna recesywna ataksja z powodu niedoboru koenzymu Q10","Recesywna ataksja możdżkowa typu 9","SCAR9"]},"cs":{"name":"Autozomálně recesivní ataxie způsobená deficitem ubiquinonu","synonyms":["ARCA2","SCAR9","Autozomálně recesivní ataxie způsobená deficitem koenzymu Q10","Autozomálně recesivní mozečková ataxie, typ 2","Autozomálně recesivní spinocerebelární ataxie, typ 9"]},"uk":{"name":"Аутосомно-рецесивна атаксія внаслідок дефіциту убіхінону","synonyms":["ARCA2","Аутосомно-рецесивна атаксія внаслідок дефіциту коензиму Q10","Аутосомно-рецесивна мозочкова атаксія типу 2","Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 9","SCAR9"],"definition":"This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy."},"zh":{"name":"辅酶Q缺乏所致常染色体隐性遗传共济失调","synonyms":["辅酶Q10缺陷所致常染色体隐性遗传共济失调"],"definition":"该综合征的特征是儿童起病的进行性共济失调和小脑萎缩。"},"tr":{"name":"Ubikinon eksikliğine bağlı otozomal resesif ataksi","synonyms":["ARCA2","SCAR9","Otozomal çekinik serebellar ataksi tip 2","Otozomal çekinik spinoserebellar ataksi tip 9","Koenzim Q10 eksikliğine bağlı otozomal çekinik ataksi"]}},"xrefs":[{"source":"OMIM","code":"612016","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619028","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1244147456"},{"source":"MONDO","code":"0012784","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567436","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677589","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10294","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1172,"name":"Autosomal recessive cerebellar ataxia","classifications":[156,181]},{"orpha":35656,"name":"Coenzyme Q10 deficiency","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COQ8A","name":"coenzyme Q8A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301317[PMID]","hgnc":"16812","ensembl":"ENSG00000163050","omim":"606980","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":31.0,"area":"Worldwide","status":"Validated","source":"24164873[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":"2018-02-19","source":"18319072[PMID]_18319074[PMID]_15326254[PMID]_12682339[PMID]","terms":[{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012752","label":"Focal T2 hypointense basal ganglia lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004696","label":"Talipes cavus equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}