{"orpha":98769,"name":"Spinocerebellar ataxia type 15/16","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA15/16"],"definition":"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98769/","orphanet_url":"https://www.orpha.net/en/disease/detail/98769","names":{"fr":{"name":"Ataxie spinocérébelleuse type 15/16","synonyms":["SCA15/16"]},"de":{"name":"Ataxie, spinozerebelläre, Typ 15/16","synonyms":["SCA15/16"]},"es":{"name":"Ataxia espinocerebelosa tipo 15/16","synonyms":["SCA15/16"],"definition":"La ataxia espinocerebelosa tipo 15/16 (SCA15/16) es un subtipo poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I; consulte este término). Se caracteriza por ataxia cerebelosa, temblores y deterioro cognitivo."},"it":{"name":"Atassia spinocerebellare, tipo 15/16","synonyms":["SCA15/16"],"definition":"L'atassia spinocerebellare tipo 15/16 (SCA15/16) è un raro sottotipo dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da atassia cerebellare, tremore e deficit cognitivo."},"nl":{"name":"Spinocerebellaire ataxie type 15/16","synonyms":["SCA15/16"],"definition":"Spinocerebellaire ataxie type 15/16 (SCA15/16) is een zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term). Het is gekenmerkt door cerebellaire ataxie, tremor en cognitieve beperkingen."},"pt":{"name":"Ataxia espinocerebelosa tipo 15/16","synonyms":["SCA15/16"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 15/16","synonyms":["SCA15/16"]},"cs":{"name":"Spinocerebelární ataxie, typ 15/16","synonyms":["SCA15/16"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 15/16","synonyms":["SCA15/16"],"definition":"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment."},"zh":{"name":"脊髓小脑共济失调15/16型","synonyms":["SCA15/16"],"definition":"脊髓小脑共济失调15/16型(SCA15/16)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)的罕见亚型。它的特点是小脑性共济失调、震颤和认知障碍。"},"tr":{"name":"Spinoserebellar ataksi tipi 15/16","synonyms":["SCA15 / 16"]}},"xrefs":[{"source":"OMIM","code":"606658","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"465613478"},{"source":"MONDO","code":"0011694","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847725","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10477","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":98770,"name":"Spinocerebellar ataxia type 16","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ITPR1","name":"inositol 1,4,5-trisphosphate receptor type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6180","ensembl":"ENSG00000150995","omim":"147265","loci":["3p26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"Dr Shinsuke FUJIOKA[EXPERT]_Dr Nathaniel WHALEY[EXPERT]_Dr Zbigniew WSZOLEK[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-17","source":"11723290[PMID]_14981189[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030188","label":"Tremor by anatomical site","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007351","label":"Upper limb postural tremor","frequency":"Frequent (79-30%)","criteria":null}]}}