{"orpha":1178,"name":"Ataxia-tapetoretinal degeneration syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1178/","orphanet_url":"https://www.orpha.net/en/disease/detail/1178","names":{"fr":{"name":"Syndrome d'ataxie-dégénérescence tapéto-rétinienne","definition":"Ataxie héréditaire rare caractérisée par l'apparition et le développement simultanés d'une ataxie cérébelleuse et d'une dégénérescence choriorétinienne (y compris dégénérescence maculaire, sclérose choroïdienne évolutive, retinite punctata albescens et rétinite pigmentaire). Aucun cas n'a été décrit dans la littérature depuis 1963."},"de":{"name":"Ataxie mit tapetoretinaler Degeneration"},"es":{"name":"Síndrome de ataxia-degeneración tapetorretiniana","definition":"Es una ataxia hereditaria poco frecuente caracterizada por la aparición y desarrollo, de forma simultánea, de ataxia cerebelosa y degeneración coriorretiniana (incluyendo degeneración macular, esclerosis coroidea avanzada, punctata albescens y retinitis pigmentosa). No ha habido más casos descritos en la literatura desde 1963."},"it":{"name":"Atassia e degenerazione tapetoretinica","definition":"È un'atassia ereditaria rara, caratterizzata dall'esordio contemporaneo di atassia cerebellare e degenerazione corioretinica (degenerazione maculare, sclerosi coroidale progressiva, retinite punctata albescens e retinite pigmentosa). Non sono stati descritti nuovi casi dopo il 1963."},"nl":{"name":"Ataxie - tapetoretinale degeneratie-syndroom","definition":"Een zeldzame, erfelijke ataxie die gekarakteriseerd wordt door simultane aanvang en ontwikkeling van cerebellaire ataxie en chorioretinale degeneratie (inclusief maculadegeneratie, gevorderde choroïdale sclerose, punctata albescens, en retinitis pigmentosa). Sinds 1963 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ataxia-degeneração tapetoretiniana"},"pl":{"name":"Ataksja - degeneracja błony odblaskowej i siatkówki"},"cs":{"name":"Syndrom zahrnující ataxii a tapetoretinální degeneraci"},"uk":{"name":"Синдром атаксії-тапеторетинальної дегенерації","definition":"A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963."},"zh":{"name":"共济失调-视网膜色素层变性综合征"},"tr":{"name":"Ataksi-tapetoretinal dejenerasyon sendromu"}},"xrefs":[{"source":"OMIM","code":"272600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190865","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}