{"orpha":1171,"name":"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAPOS syndrome","Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome"],"definition":"A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1171/","orphanet_url":"https://www.orpha.net/en/disease/detail/1171","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse-aréflexie-pieds creux-atrophie optique-surdité neurosensorielle","synonyms":["Syndrome CAPOS"],"definition":"Maladie neurologique autosomique dominante rare, caractérisée par une ataxie cérébelleuse précoce, associée à une aréflexie, une atrophie optique progressive, une surdité de perception, des pieds creux et des mouvements oculaires anormaux."},"de":{"name":"Zerebelläre Ataxie-Areflexie-Pes cavus-Optikusatrophie-sensorineurale Schwerhörigkeit-Syndrom","synonyms":["CAPOS-Syndrom"],"definition":"Eine seltene autosomal-dominante neurologische Erkrankung, die durch eine früh einsetzende zerebelläre Ataxie gekennzeichnet ist, die mit Areflexie, progressiver Optikusatrophie, sensorineuraler Taubheit, einem Hohlfuß und abnormen Augenbewegungen einhergeht."},"es":{"name":"Síndrome de ataxia cerebelosa-arreflexia-pies cavos-atrofia óptica-hipoacusia neurosensorial","synonyms":["Síndrome CAPOS","Síndrome de ataxia cerebelosa-arreflexia-pies cavos-atrofia óptica-sordera neurosensorial"],"definition":"Es un trastorno neurológico autosómico dominante y poco frecuente caracterizado por ataxia cerebelosa de inicio temprano junto con arreflexia, atrofia óptica progresiva, sordera neurosensorial, pies cavos y movimientos oculares anómalos."},"it":{"name":"Atassia cerebellare - areflessia - piede cavo - atrofia ottica - sordità neurosensoriale","definition":"La sindrome atassia cerebellare-areflessia-piede cavo-atrofia ottica-sordità neurosensoriale (sindrome CAPOS) è una malattia neurologica autosomica dominante rara, caratterizzata da atassia cerebellare ad esordio precoce associata ad areflessia, atrofia ottica progressiva, sordità neurosensoriale, piede cavo e anomalie del movimento degli occhi."},"nl":{"name":"Cerebellaire ataxie - areflexie - pes cavus - opticusatrofie - sensorineuraal gehoorverlies-syndroom","synonyms":["CAPOS-syndroom","Cerebellaire ataxie - areflexie - pes cavus - opticusatrofie - sensorineurale doofheid-syndroom"],"definition":"Een zeldzame, autosomaal dominante neurologische aandoening, gekenmerkt door vroeg optredende cerebellaire ataxie, geassocieerd met areflexie, progressieve opticusatrofie, sensorineuraal gehoorverlies, pes cavus (holvoet), en abnormale oogbewegingen."},"pt":{"name":"Síndrome de ataxia cerebelosa-arreflexia-pés cavus-atrofia óptica-perda auditiva neurossensorial"},"pl":{"name":"Ataksja móżdżkowa - arefleksja - stopa wydrążona - atrofia nerwu wzrokowego - czuciowo-nerwowa utrata słuchu","synonyms":["Zespół CAPOS"],"definition":"Rzadkie, dziedziczone autosomalnie dominująco zaburzenie neurologiczne, które charakteryzuje się ataksją móżdżkową o wczesnym początku, powiązaną z brakiem odruchów, postępującym zanikiem nerwu wzrokowego, głuchotą czuciowo-nerwową, wydrążonymi stopami oraz nieprawidłowymi ruchami gałek ocznych."},"cs":{"name":"Syndrom zahrnující cerebelární ataxii, areflexii, pes cavus, optickou atrofii a senzorineurální ztrátu sluchu","synonyms":["CAPOS syndrom"]},"uk":{"name":"Мозочкова атаксія-арефлексія-pes cavus-атрофія зорового нерва-сенсоневральна втрата слуху","synonyms":["Синдром CAPOS","Синдром мозочкової атаксії-рефлексії-pes cavus-атрофії зорового нерва-сенсоневральної глухоти"],"definition":"A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements."},"zh":{"name":"小脑共济失调-反射消失-弓形足-视神经萎缩-感音神经性耳聋综合征","synonyms":["CAPOS综合征"]},"tr":{"name":"Serebellar ataksi-arefleksi-pes kavus-optik atrofi-sensörinöral işitme kaybı sendromu","synonyms":["Serebellar ataksi-arefleksi-pes kavus-optik atrofi-sensörinöral sağırlık sendromu","CAPOS sendromu"]}},"xrefs":[{"source":"OMIM","code":"601338","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011038","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535351","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832466","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1188","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ATP1A3","name":"ATPase Na+/K+ transporting subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24468074[PMID]","hgnc":"801","ensembl":"ENSG00000105409","omim":"182350","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Mitochondrial inheritance"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"24468074[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24468074[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-06","source":"20301294[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:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","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:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}