{"orpha":412057,"name":"Autosomal recessive cerebellar ataxia due to STUB1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCAR16","Spinocerebellar ataxia autosomal recessive type 16"],"definition":"A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412057/","orphanet_url":"https://www.orpha.net/en/disease/detail/412057","names":{"fr":{"name":"Ataxie cérébelleuse congénitale autosomique récessive par déficit en STUB1","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 16","SCAR16"],"definition":"Ataxie héréditaire rare caractérisée par une ataxie progressive du tronc et des membres entraînant une instabilité de la démarche. Une dysarthrie, une dysphagie, un nystagmus, une spasticité des membres inférieurs, une neuropathie sensorielle périphérique légère, des troubles cognitifs et un vieillissement accéléré ont également été associés."},"de":{"name":"Zerebelläre Ataxie, autosomal-rezessive, durch STUB1-Mangel","synonyms":["SCAR16","Spinozerebelläre Ataxie, autosomal-rezessive, Typ 16"]},"es":{"name":"Ataxia cerebelosa autosómica recesiva por deficiencia de STUB1","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 16","SCAR16"],"definition":"Es una ataxia hereditaria poco frecuente caracterizada por ataxia troncal y de las extremidades progresiva que produce inestabilidad de la marcha. También se han asociado disartria, disfagia, nistagmo, espasticidad en las extremidades inferiores, neuropatía sensitiva periférica leve, deterioro cognitivo y envejecimiento acelerado."},"it":{"name":"Atassia cerebellare autosomica recessiva da deficit di STUB1","synonyms":["Atassia spinocerebellare autosomica recessiva, tipo 16","SCAR16"],"definition":"L'atassia cerebellare autosomica recessiva da deficit di STUB1 è un'atassia ereditaria rara, caratterizzata da atassia progressiva del tronco e degli arti, con conseguente instabilità dell'andatura. Può associarsi a disartria, disfagia, nistagmo, spasticità degli arti inferiori, lieve neuropatia sensoriale periferica, deficit cognitivo e invecchiamento precoce."},"nl":{"name":"Autosomaal recessieve cerebellaire ataxie door STUB1-deficiëntie","synonyms":["SCAR16","Spinocerebellaire ataxie, autosomaal recessief type 16"],"definition":"Een zeldzame, erfelijke ataxie, gekarakteriseerd door progressieve ataxie van romp en ledematen, met instabiele gang tot gevolg. Dysartrie, dysfagie, nystagmus, spasticiteit van de onderste ledematen, milde perifere sensorische neuropathie, cognitieve stoornis en versneld verouderen werden ook reeds geassocieerd."},"pt":{"name":"Ataxia cerebelosa autossómica recessiva por défice de STUB1"},"pl":{"name":"Autosomalna recesywna ataksja móżdżkowa z powodu niedoboru CHIP","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 16","SCAR16"]},"cs":{"name":"Autozomálně recesivní cerebellární ataxie způsobená deficitem STUB1","synonyms":["SCAR16","Autozomálně recesivní spinocerebelární ataxie, typ 16"]},"uk":{"name":"Аутосомно-рецесивна мозочкова атаксія, зумовлена дефіцитом STUB1","synonyms":["SCAR16","Спіноцеребеллярна атаксія, аутосомно-рецесивний тип 16"],"definition":"A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated."},"zh":{"name":"STUB1缺陷所致常染色体隐性遗传小脑性共济失调","synonyms":["脊髓小脑共济失调常染色体隐性16型"],"definition":"一种罕见的遗传性共济失调，其特征是进行性的小腿和四肢共济失调，导致步态不稳。还可合并构音障碍，吞咽困难，眼球震颤，下肢的痉挛，轻度的周围感觉神经病，认知障碍和加速衰老。"},"tr":{"name":"STUB1 eksikliğine bağlı otozomal resesif serebellar ataksi","synonyms":["SCAR16","Spinoserebellar ataksi otozomal çekinik tip 16"]}},"xrefs":[{"source":"OMIM","code":"615768","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014339","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190574","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1172,"name":"Autosomal recessive cerebellar ataxia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"STUB1","name":"STIP1 homology and U-box containing protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24312598[PMID]_24742043[PMID]_25258038[PMID]_24113144[PMID]","hgnc":"11427","ensembl":"ENSG00000103266","omim":"607207","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"24312598[PMID]_24742043[PMID]_25258038[PMID]_25592071[PMID]_24719489[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24312598[PMID]_24742043[PMID]_25258038[PMID]_25592071[PMID]_24719489[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-13","source":"24312598[PMID]_24113144[PMID]_24742043[PMID]_24719489[PMID]_25258038[PMID]","terms":[{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012896","label":"Abnormal motor evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012104","label":"Parietal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002679","label":"Abnormality of the sella turcica","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012569","label":"Delayed menarche","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001094","label":"Iridocyclitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null}]}}