{"orpha":101,"name":"Dentatorubral pallidoluysian atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DRPLA","Dentatorubropallidoluysian atrophy","Naito-Oyanagi disease"],"definition":"A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101/","orphanet_url":"https://www.orpha.net/en/disease/detail/101","names":{"fr":{"name":"Atrophie dentato-rubro-pallido-luysienne","synonyms":["ADRPL","DRPLA","Maladie de Naito-Oyanagi"],"definition":"L'atrophie dentato-rubro-pallido-luysienne (ADRPL) est une forme rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une des mouvements involontaires, une ataxie, une épilepsie, un déficit cognitif, et un important phénomène d'anticipation."},"de":{"name":"Atrophie, dentatorubrale-pallidolysiale","synonyms":["DRPLA","Naito-Oyanagi-Krankheit"],"definition":"Die Dentatorubrale-pallidolysiale Atrophie (DRPLA) ist ein seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch unwillkürliche Bewegungen, Ataxie, Epilepsie, mentale Störungen, kognitiven Abbau und bezüglich der Vererbung deutlicher Antezipation."},"es":{"name":"Atrofia dentato-rubro-pálido-luisiana","synonyms":["DRPLA"],"definition":"Es un subtipo poco frecuente de ataxia cerebelosa autosómica dominante tipo 1 caracterizada por movimientos involuntarios, ataxia, epilepsia, trastornos mentales, deterioro cognitivo y marcada anticipación."},"it":{"name":"Atrofia dentato-rubro-pallido-luisiana","synonyms":["DRPLA","Malattia di Naito-Oyanagi"],"definition":"L'atrofia dentato-rubro-pallido-luisiana (DRPLA) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da movimenti involontari, atassia, epilessia, disturbi mentali, declino cognitivo e marcata anticipazione."},"nl":{"name":"Dentatorubro-pallidoluysische atrofie","synonyms":["DRPLA","Ziekte van Naito-Oyanagi"],"definition":"Een zeldzaam subtype van autosomaal dominante cerebellaire ataxie type I, gekarakteriseerd door onvrijwillige bewegingen, ataxie, epilepsie, mentale stoornissen, cognitieve aftakeling en duidelijke anticipatie bij overerving."},"pt":{"name":"Atrofia dentato-rubro-palido-luisiana","synonyms":["DRPLA","Síndrome Naito-Oyanagi"],"definition":"Subtipo raro de ataxia cerebelosa autossómica dominante tipo I, caracterizada por movimentos involuntários, ataxia, epilepsia, perturbações mentais, declínio cognitivo e antecipação marcada."},"pl":{"name":"Zanik jądra zębatego, jądra czerwiennego, gałki bladej i jądra niskowzgórzowego","synonyms":["Choroba Naito i Oyanagi","DRplA","Zanik jądra zębatego, jądra czerwiennego, gałki bladej i jądra niskowzgórzowego"]},"cs":{"name":"Dentatorubropalidoluysická atrofie","synonyms":["DRPLA","Dentato-rubro-pallidoluysianská atrofie","Nemoc Naito-Oyanagi"]},"uk":{"name":"Дентаторубрал-палідолуїзійна атрофія","synonyms":["Атрофія зубощелепно-піднебінної ділянки","DRPLA","Хвороба Найто-Оянагі"],"definition":"A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation."},"zh":{"name":"齿状核红核苍白球路易体萎缩","synonyms":["齿状核红核苍白球丘脑下核萎缩"]},"tr":{"name":"Dentatorubral pallidoluysian atrofisi","synonyms":["DRPLA","Naito-Oyanagi hastalığı","Dentatorubropallidoluysian atrofi"]}},"xrefs":[{"source":"OMIM","code":"125370","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A01.12","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1198818955"},{"source":"MONDO","code":"0007435","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751781","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5643","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075298","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94149,"name":"Autosomal dominant cerebellar ataxia type IV","classifications":[156,181]},{"orpha":158266,"name":"Huntington disease-like syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATN1","name":"atrophin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3033","ensembl":"ENSG00000111676","omim":"607462","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.48,"area":"Japan","status":"Validated","source":"18418674[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.71,"area":"United Kingdom","status":"Not yet validated","source":"17965145[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-05","source":"7614090[PMID]_21827919[PMID]_21619691[PMID]_6808417[PMID]","terms":[{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010867","label":"Dyssynergia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001138","label":"Optic neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Occasional (29-5%)","criteria":null}]}}