{"orpha":95433,"name":"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 3","Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome","SCABD","SCAR3"],"definition":"A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95433/","orphanet_url":"https://www.orpha.net/en/disease/detail/95433","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique récessive-cécité-surdité","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 3","SCABD","SCAR3"],"definition":"Ataxie cérébelleuse syndromique autosomique récessive rare, caractérisée par l'association d'une ataxie cérébelleuse à début précoce, d'une perte d'audition et d'une cécité. Les patients peuvent également présenter une neuropathie motrice périphérique démyélinisante. L'IRM cérébrale met en évidence des altérations de la substance blanche cérébelleuse sans atrophie cérébelleuse."},"de":{"name":"Autosomal-rezessive spinozerebelläre Ataxie-Blindheit-Schwerhörigkeit-Syndrom","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 3","Autosomal-rezessive spinozerebelläre Ataxie-Blindheit-Hörverlust-Syndrom","SCABD","SCAR3"],"definition":"Ein autosomal-rezessive syndromale zerebellären Ataxie, die sich durch eine früh einsetzende zerebelläre Ataxie in Verbindung mit Hörverlust und Blindheit auszeichnet. Die Patienten können auch eine demyelinisierende periphere motorische Neuropathie aufweisen. Die zerebrale MRT zeigt Veränderungen der zerebellären weißen Substanz ohne zerebelläre Atrophie."},"es":{"name":"Síndrome de ataxia espinocerebelosa autosómica recesiva-ceguera-sordera","synonyms":["SCABD","SCAR3","Síndrome de ataxia espinocerebelosa autosómica recesiva tipo 3","Síndrome de ataxia espinocerebelosa autosómica recesiva-ceguera-hipoacusia"],"definition":"Es una ataxia cerebelosa poco frecuente autosómica recesiva caracterizada por la asociación de ataxia cerebelosa de inicio temprano con hipoacusia y ceguera. Los pacientes también pueden presentar neuropatía motora periférica desmielinizante. La RM cerebral muestra alteraciones de la sustancia blanca sin atrofia cerebelosa."},"it":{"name":"Sindrome autosomica recessiva atassia spinocerebellare-cecità-sordità","synonyms":["SCAR3"],"definition":"Si tratta di un'atassia cerebellare sindromica rara, a trasmissione autosomica recessiva, caratterizzata da atassia cerebellare ad esordio precoce, associata a sordità e cecità. I pazienti possono presentare anche neuropatia motoria periferica demielinizzante. La RMN cerebrale evidenzia alterazioni della sostanza bianca cerebellare, in assenza di atrofia cerebellare."},"nl":{"name":"Autosomaal recessieve spinocerebellaire ataxie - blindheid - doofheid-syndroom","synonyms":["Autosomaal recessieve spinocerebellaire ataxie - blindheid - gehoorverlies-syndroom","Autosomaal recessieve spinocerebellaire ataxie type 3","SCABD","SCAR3"],"definition":"Een zeldzame autosomaal recessieve syndromale cerebellaire ataxie, gekenmerkt door de associatie van vroeg optredende cerebellaire ataxie met gehoorverlies en blindheid. Patiënten kunnen ook demyeliniserende perifere motorische neuropathie vertonen. Cerebrale MRI toont veranderingen van cerebellaire witte stof zonder cerebellaire atrofie."},"pt":{"name":"Síndrome de ataxia espinocerebelosa autossómica recessiva-cegueira-surdez","definition":"Ataxia cerebelar sindrómica autossómica recessiva rara, caracterizada pela associação de ataxia cerebelar de início precoce com perda auditiva e cegueira. Os doentes também podem apresentar neuropatia motora periférica desmielinizante. A ressonância magnética cerebral mostra alterações da substância branca cerebelar sem atrofia cerebelar."},"pl":{"name":"Autosomalna recesywna ataksja móżdżkowa - ślepota - głuchota","synonyms":["SCAR3"]},"cs":{"name":"Syndrom zahrnující autozomálně recesivní cerebelární ataxii, slepotu a hluchotu","synonyms":["SCAR3"]},"uk":{"name":"Аутосомно-рецесивний синдром спіноцеребеллярної атаксії-сліпоти-глухоти","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія типу 3","Аутосомно-рецесивний синдром спіноцеребеллярної атаксії-сліпоти-глухоти","SCABD","SCAR3"],"definition":"A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy."},"zh":{"name":"常染色体隐性遗传性脊髓小脑共济失调-盲-聋综合征","synonyms":["常染色体隐性遗传性脊髓小脑共济失调-盲-失聪综合征"]},"tr":{"name":"Otozomal resesif spinoserebellar ataksi-körlük-sağırlık sendromu","synonyms":["SCABD","SCAR3","Otozomal Çekinik spinoserebellar ataksi tip 3","Otozomal Çekinik spinoserebellar ataksi-körlük-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"614863","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010061","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10061","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13931","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537309","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849094","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9971","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":68373,"name":"Peroxisomal disease","classifications":[150,156]}],"children":[],"genes":[{"symbol":"PEX6","name":"peroxisomal biogenesis factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26669662[PMID]","hgnc":"8859","ensembl":"ENSG00000124587","omim":"601498","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11175288[PMID]_4154794[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11175288[PMID]_4154794[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-26","source":"11175288[PMID]_4154794[PMID]","terms":[{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005102","label":"Cochlear degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000524","label":"Conjunctival telangiectasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007263","label":"Spinocerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Excluded (0%)","criteria":null}]}}