{"orpha":363710,"name":"Spinocerebellar ataxia type 37","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA37","Spinocerebellar ataxia with altered vertical eye movements"],"definition":"An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363710/","orphanet_url":"https://www.orpha.net/en/disease/detail/363710","names":{"fr":{"name":"Ataxie spinocérébelleuse type 37","synonyms":["Ataxie spinocérébelleuse avec mouvements oculaires verticaux anormaux","SCA37"],"definition":"Ataxie cérébelleuse autosomique dominante de type 1 qui se caractérise par un syndrome cérébelleux et une altération des mouvements verticaux des yeux."},"de":{"name":"Ataxie, spinozerebelläre, Typ 37","synonyms":["SCA37","Spinozerebelläre Ataxie mit veränderten vertikalen Augenbewegungen"],"definition":"Die spinozerebelläre Ataxie Typ 37 (SCA37) ist ein Untertyp der autosomal-dominanten vererbten zerebellären Ataxie Typ 1 (ADCA Typ 1). Sie ist durch ein zerebelläres Syndrom mit veränderten vertikalen Augenbewegungen charakterisiert."},"es":{"name":"Ataxia espinocerebelosa tipo 37","synonyms":["Ataxia espinocerebelosa con los movimientos oculares verticales alterados","SCA37"],"definition":"Es un subtipo de ataxia cerebelosa autosómica dominante de tipo I caracterizada por un síndrome cerebeloso junto con movimientos oculares verticales alterados."},"it":{"name":"Atassia spinocerebellare tipo 37","synonyms":["Atassia spinocerebellare con alterazione dei movimenti oculari verticali","SCA37"],"definition":"L'atassia spinocerebellare tipo 37 (SCA37) è una forma di atassia cerebellare autosomica dominate tipo I, caratterizzata da una sindrome cerebellare associata ad alterazioni dei movimenti oculari verticali."},"nl":{"name":"Spinocerebellaire ataxie type 37","synonyms":["SCA37","Spinocerebellaire ataxie met gewijzigde verticale oogbewegingen"],"definition":"Een autosomaal dominante cerebellaire ataxie type 1 (ADCA type 1), gekarakteriseerd door een cerebellair syndroom samen met gewijzigde verticale oogbewegingen."},"pt":{"name":"Ataxia espinocerebelosa tipo 37","synonyms":["Ataxia espinocerebelosa com movimentos oculares verticais anómalos","SCA37"]},"pl":{"name":"Ataksja móżdżkowo-rdzeniowa typu 37","synonyms":["Ataksja móżdżkowo-rdzeniowa ze zmienionymi pionowymi ruchami gałek ocznych","SCA37"]},"cs":{"name":"Spinocerebelární ataxie, typ 37","synonyms":["SCA37","Spinocerebelární ataxie s alterovanými vertikálními pohyby očí"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 37","synonyms":["SCA37","Спіноцеребелкова атаксія зі зміненими вертикальними рухами очей"],"definition":"An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements."},"zh":{"name":"脊髓小脑共济失调37型","synonyms":["脊髓小脑性共济失调伴垂直眼球运动改变"],"definition":"本病是一种常染色体显性遗传性小脑性共济失调1型，以小脑综合征和垂直眼球运动改变为特征。"},"tr":{"name":"Spinoserebellar ataksi tip 37","synonyms":["SCA37","Dikey göz hareketi değişiklikleri ile seyreden spinoserebellar ataksi"]}},"xrefs":[{"source":"OMIM","code":"615945","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014410","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3889636","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12368","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]}],"children":[],"genes":[{"symbol":"DAB1","name":"DAB adaptor protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28686858[PMID]","hgnc":"2661","ensembl":"ENSG00000173406","omim":"603448","loci":["1p32.2"]},{"symbol":"SCA37","name":"spinocerebellar ataxia 37","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23700170[PMID]","hgnc":"43726","ensembl":null,"omim":null,"loci":["1p32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"23700170[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-13","source":"23700170[PMID]","terms":[{"hpo":"HP:0000549","label":"Abnormal conjugate eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002406","label":"Limb dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002168","label":"Scanning speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null}]}}