{"orpha":314404,"name":"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADCA-DN syndrome","Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome"],"definition":"A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314404/","orphanet_url":"https://www.orpha.net/en/disease/detail/314404","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie","synonyms":["syndrome ADCA-DN"],"definition":"Maladie polymorphe rare, sous-type de l'ataxie cérébelleuse autosomique dominante de type 1 (ADCA de type 1), caractérisée par une ataxie, une surdité de perception et une narcolepsie avec cataplexie et démence."},"de":{"name":"Syndrom der autosomal-dominanten zerebellären Ataxie mit Schwerhörigkeit und Narkolepsie","synonyms":["ADCA-DN","Zerebelläre Ataxie-Schwerhörigkeit-Narkolepsie-Syndrom"],"definition":"Eine Subtyp der autosomal-dominanten zerebellären Ataxie Typ 1 (ADCA Typ 1), gekennzeichnet durch Ataxie, sensorineurale Taubheit und Narkolepsie mit Kataplexie und Demenz."},"es":{"name":"Síndrome de ataxia cerebelosa-sordera-narcolepsia autosómico dominante","synonyms":["Síndrome ADCA-DN","Síndrome de ataxia cerebelosa-hipoacusia-narcolepsia autosómico dominante"],"definition":"Es un trastorno polimórfico poco frecuente, que combina un subtipo de ataxia cerebelosa autosómico dominante tipo 1 (ADCA tipo 1) caracterizado por ataxia, sordera neurosensorial y narcolepsia con cataplejía y demencia."},"it":{"name":"Sindrome atassia cerebellare-sordità-narcolessia autosomica dominante","synonyms":["ADCA-DN","Sindrome atassia cerebellare autosomica dominante-sordità-narcolessia"],"definition":"La sindrome atassia cerebellare-sordità-narcolessia autosomica dominante (ADCA-DN), un sottotipo dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1), è una malattia rara polimorfa, caratterizzata da atassia, sordità neurosensoriale e narcolessia con cataplessia e demenza."},"nl":{"name":"Autosomaal dominante cerebellaire ataxie - doofheid - narcolepsie-syndroom","synonyms":["ADCA-DN-syndroom","Autosomaal dominante cerebellaire ataxie - gehoorverlies - narcolepsie-syndroom"],"definition":"Een zeldzame, polymorfe aandoening en een subtype van autosomaal dominante cerebellaire ataxie type 1 (ADCA type 1), gekarakteriseerd door ataxie, sensorineurale doofheid en narcolepsie met kataplexie en dementie."},"pt":{"name":"Síndrome de ataxia cerebelosa-surdez-narcolepsia autossómica dominante","synonyms":["ADCA-DN","Síndrome de ataxia cerebelosa-surdez-narcolepsia"]},"pl":{"name":"Autosomalny dominujący zespół ataksji móżdżkowej, głuchoty i narkolepsji","synonyms":["Zespół ADCA-DN"]},"cs":{"name":"Autozomálně dominantní cerebelární ataxie, hluchota a narkolepsie","synonyms":["ADCA-DN","Syndrom zahrnující autozomálně dominantní cerebelární ataxii, hluchotu a narkolepsii"]},"uk":{"name":"Аутосомно-домінантний синдром мозочкової атаксії-глухоти-нарколепсії","synonyms":["Синдром ADCA-DN","Аутосомно-домінантний синдром мозочкової атаксії-глухоти-нарколепсії"],"definition":"A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia."},"zh":{"name":"常染色体显性遗传小脑共济失调、耳聋和嗜睡症","synonyms":["常染色体显性遗传小脑共济失调、听力丧失和嗜睡综合征"],"definition":"一种罕见的多态性疾病，常染色体显性遗传性小脑共济失调1型（ADCA 1型）的亚型，特征为共济失调、感音神经性耳聋和伴有猝倒和痴呆的嗜睡症。"},"tr":{"name":"Otozomal dominant serebellar ataksi-sağırlık-narkolepsi sendromu","synonyms":["ADCA-DN sendromu","Otozomal dominant serebellar ataksi-işitme kaybı-narkolepsi sendromu"]}},"xrefs":[{"source":"OMIM","code":"604121","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011397","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302668","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12372","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":68354,"name":"Rare sleep disorder","classifications":[181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"DNMT1","name":"DNA methyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22328086[PMID]","hgnc":"2976","ensembl":"ENSG00000130816","omim":"126375","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"EXPERT"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22328086[PMID]_23904686[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-20","source":"8747854[PMID]_10599806[PMID]_22328086[PMID]","terms":[{"hpo":"HP:0030050","label":"Narcolepsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003287","label":"Abnormality of mitochondrial metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007082","label":"Dilated third ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003550","label":"Predominantly lower limb lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002476","label":"Primitive reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}