{"orpha":94147,"name":"Spinocerebellar ataxia type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ataxia with pigmentary retinopathy","Cerebellar syndrome-pigmentary maculopathy syndrome","SCA7"],"definition":"An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94147/","orphanet_url":"https://www.orpha.net/en/disease/detail/94147","names":{"fr":{"name":"Ataxie spinocérébelleuse type 7","synonyms":["Ataxie avec rétinopathie pigmentaire","SCA7","Syndrome cérébelleux-maculopathie pigmentaire"],"definition":"Ataxie cérébelleuse autosomique dominante de type II qui se caractérise par une ataxie progressive, des anomalies du système moteur, une dysarthrie, une dysphagie et une dégénérescence rétinienne conduisant à une cécité progressive."},"de":{"name":"Ataxie, spinozerebelläre, Typ 7","synonyms":["Ataxie mit Pigmentretinopathie","Ataxie, autosomal-dominante spinozerebelläre, Typ 7","SCA7"],"definition":"Die spinozerebelläre Ataxie Typ 7 ist ein Untertyp der autosomal-dominanten vererbten zerebellären Ataxie Typ 2 (ADCA Typ 2). Sie ist durch fortschreitende Ataxie, motorische Anomalien, Dysarthrie, Dysphagie und Netzhautdegeneration bis hin zur fortschreitenden Erblindung charakterisiert."},"es":{"name":"Ataxia espinocerebelosa tipo 7","synonyms":["Ataxia con retinopatía pigmentaria","SCA7","Síndrome cerebeloso-maculopatía pigmentaria"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo II caracterizada por ataxia progresiva, anomalías del aparato locomotor, disartria, disfagia y degeneración retiniana que conduce a ceguera progresiva."},"it":{"name":"Atassia spinocerebellare tipo 7","synonyms":["Atassia con retinopatia pigmentosa","SCA7","Sindrome cerebellare - maculopatia pigmentosa"],"definition":"L'atassia spinocerebellare tipo 7 (SCA7) è una forma di atassia cerebellare autosomica dominante tipo II, caratterizzata da atassia progressiva, anomalie del sistema motorio, disartria, disfagia e degenerazione retinica che esita nella cecità progressiva."},"nl":{"name":"Spinocerebellaire ataxie type 7","synonyms":["Ataxie met pigmentretinopathie","Cerebellair syndroom - pigmentmaculopathie-syndroom","SCA7"],"definition":"Een autosomaal dominante cerebellaire ataxie type II (ADCA type II), gekarakteriseerd door progressieve ataxie, afwijkingen van het motorische systeem, dysartrie, dysfagie, dysfagie en retinadegeneratie die leidt tot progressieve blindheid."},"pt":{"name":"Ataxia espinocerebelosa tipo 7","synonyms":["SCA7"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 7","synonyms":["Ataksja z retinopatią barwnikową","SCA7","Zespół móżdżkowy - makulopatia barwnikowa"]},"cs":{"name":"Spinocerebelární ataxie, typ 7","synonyms":["Ataxie s pigmentární retinopatií","Syndrom zahrnující cerebelární syndrom a pigmentární makulopatii","SCA7"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 7","synonyms":["Атаксія з пігментною ретинопатією","Мозочковий синдром - синдром пігментної макулопатії","SCA7"],"definition":"An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness."},"zh":{"name":"脊髓小脑共济失调7型","synonyms":["小脑综合征-色素性黄斑病变综合征"],"definition":"一种以进行性共济失调、运动系统异常、构音障碍、吞咽困难和视网膜变性（导致进行性失明）为特征的常染色体显性遗传小脑共济失调Ⅱ型。"},"tr":{"name":"Spinoserebellar ataksi tip 7","synonyms":["SCA7","Pigmenter retinopati ile seyreden ataksi","Serebellar sendrom-pigmenter makülopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"164500","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":"index","validated":true,"icd11_uri":"625800545"},{"source":"MONDO","code":"0016163","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16163","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0752125","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4955","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":208508,"name":"Autosomal dominant cerebellar ataxia type II","classifications":[156,181]},{"orpha":98687,"name":"Supranuclear eye movement disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ATXN7","name":"ataxin 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301317[PMID]","hgnc":"10560","ensembl":"ENSG00000163635","omim":"607640","loci":["3p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24374739[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-20","source":"22915085[PMID]_20301433[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000548","label":"Cone/cone-rod dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001098","label":"Abnormal fundus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","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:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012047","label":"Hemeralopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null}]}}