{"orpha":1955,"name":"Spinocerebellar ataxia type 34","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Erythrokeratodermia with ataxia","SCA34","Spinocerebellar ataxia and erythrokeratodermia"],"definition":"An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1955/","orphanet_url":"https://www.orpha.net/en/disease/detail/1955","names":{"fr":{"name":"Ataxie spinocérébelleuse type 34","synonyms":["Ataxie spinocérébelleuse avec érythrokératodermie","Erythrokératodermie avec ataxie"],"definition":"Ataxie cérébelleuse autosomique dominante de type I qui se caractérise par des plaques papulo-squameuses et ichtyosiformes sur les membres apparaissant peu après la naissance et d'autres manifestations apparaissant plus tard dans la vie, à savoir, une ataxie progressive, une dysarthrie, un nystagmus et une diminution des réflexes."},"de":{"name":"Ataxie, spinozerebelläre, Typ 34","synonyms":["Erythrokeratodermie mit Ataxie","SCA34","Spinozerebelläre Ataxie und Erythrokeratoderm"],"definition":"Die spinozerebelläre Ataxie Typ 34 (SCA34) ist ein Untertyp der autosomal-dominant vererbten zerebellären Ataxie Typ 1 (ADCA Typ 1). Sie ist durch papulosquamöse, ichthyosiforme Plaques an den Gliedmaßen charakterisiert, die kurz nach der Geburt auftreten. Später können eine progressive Ataxie, Dysarthrie, Nystagmus und abgeschwächte Reflexe auftreten."},"es":{"name":"Ataxia espinocerebelosa tipo 34","synonyms":["Ataxia espinocerebelosa y eritroqueratodermia","Eritroqueratodermia con ataxia","SCA34"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo I (ADCA tipo I) caracterizada por placas papuloescamosas e ictiosiformes en las extremidades que aparecen poco después del nacimiento y manifestaciones más tardías que incluyen ataxia progresiva, disartria, nistagmo y pérdida de reflejos."},"it":{"name":"Atassia spinocerebellare tipo 34","synonyms":["Atassia spinocerebellare ed eritrocheratodermia","Eritrocheratodermia con atassia","SCA34"],"definition":"L'atassia spinocerebellare tipo 34 (SCA34) è una forma di atassia cerebellare autosomica dominate tipo I, caratterizzata da placche ittiosiformi papulo-squamose che si manifestano poco dopo la nascita a livello degli arti, e da segni clinici più tardivi che comprendono l'atassia progressiva, la disartria, il nistagmo e la riduzione dei riflessi."},"nl":{"name":"Spinocerebellaire ataxie type 34","synonyms":["Erytrokeratodermie met ataxie","SCA34","Spinocerebellaire ataxie en erytrokeratodermie"],"definition":"Een autosomaal dominante cerebellaire ataxie type I (ADCA type I), gekarakteriseerd door papulosquameuze, ichthyosiforme plaques die kort na de geboorte verschijnen op de ledematen, en door latere manifestaties waaronder progressieve ataxie, dysartrie, nystagmus en verminderde reflexen."},"pt":{"name":"Ataxia espinocerebelosa tipo 34","synonyms":["Eritroqueratodermia-ataxia"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 34","synonyms":["Ataksja rdzeniowo-móżdżkowa z erytrokeratodermią","Erytrokeratodermia z ataksją","SCA34"]},"cs":{"name":"Spinocerebelární ataxie, typ 34","synonyms":["Erytrokeratodermie s ataxií","SCA34","Spinocerebelární ataxie a erytrokeratodermie"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 34","synonyms":["Еритрокератодермія з атаксією","SCA34","Спіноцеребеллярна атаксія та еритрокератодермія"],"definition":"An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes."},"zh":{"name":"脊髓小脑共济失调34型","synonyms":["脊髓小脑共济失调和红斑角化病"]},"tr":{"name":"Spinoserebellar ataksi tip 34","synonyms":["SCA34","Ataksi ile seyreden eritrokeratodermi","Spinoserebellar ataksi ve eritrokeratodermi"]}},"xrefs":[{"source":"OMIM","code":"133190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007574","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535738","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851481","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"59","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":94145,"name":"Autosomal dominant cerebellar ataxia type I","classifications":[156,181]},{"orpha":79355,"name":"Erythrokeratoderma","classifications":[187]},{"orpha":183438,"name":"Genetic erythrokeratoderma","classifications":[156]}],"children":[],"genes":[{"symbol":"ELOVL4","name":"ELOVL fatty acid elongase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24566826[PMID]","hgnc":"14415","ensembl":"ENSG00000118402","omim":"605512","loci":["6q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31105016[PMID]_31750392[PMID]_[EXPERT]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":45.0,"area":"Worldwide","status":"Validated","source":"31105016[PMID]_31750392[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}