{"orpha":98771,"name":"Spinocerebellar ataxia type 18","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA18"],"definition":"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98771/","orphanet_url":"https://www.orpha.net/en/disease/detail/98771","names":{"fr":{"name":"Ataxie spinocérébelleuse type 18","synonyms":["SCA18"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 18 est une forme très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une neuropathie sensitive et une ataxie cérébelleuse."},"de":{"name":"Ataxie, spinozerebelläre, Typ 18","synonyms":["SCA18"],"definition":"Die Spinozerebelläre Ataxie Typ 18 (SCA18) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch sensorische Neuropathie und zerebelläre Ataxie."},"es":{"name":"Ataxia espinocerebelosa tipo 18","synonyms":["SCA18"],"definition":"La ataxia espinocerebelosa tipo 18 es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I; consulte este término). Se caracteriza por neuropatía sensorial y ataxia cerebelosa."},"it":{"name":"Atassia spinocerebellare, tipo 18","synonyms":["SCA18"],"definition":"L'atassia spinocerebellare tipo 18 (SCA18) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da neuropatia sensoriale e atassia cerebellare."},"nl":{"name":"Spinocerebellaire ataxie type 18","synonyms":["SCA18"],"definition":"Spinocerebellaire ataxie type 18 (SCA18) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term), gekarakteriseerd door sensorische neuropathie en cerebellaire ataxie."},"pt":{"name":"Ataxia espinocerebelosa tipo 18","synonyms":["SCA18"],"definition":"A ataxia espinocerebelosa tipo 18 (SCA18) é um subtipo raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). É caracterizada por neuropatia sensitiva e ataxia cerebelosa."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 18","synonyms":["SCA18"]},"cs":{"name":"Spinocerebelární ataxie, typ 18","synonyms":["SCA18"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 18","synonyms":["SCA18"],"definition":"Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia."},"zh":{"name":"脊髓小脑共济失调18型","synonyms":["SCA18"],"definition":"脊髓小脑共济失调18型(SCA18)是I型常染色体显性遗传性小脑共济失调(ADCAI型，见该词条)的一种非常罕见的亚型，以感觉神经病和小脑共济失调为特征。"},"tr":{"name":"Spinoserebellar ataksi tip 18","synonyms":["SCA18"]}},"xrefs":[{"source":"OMIM","code":"607458","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":"1564628854"},{"source":"MONDO","code":"0011834","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537197","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843884","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9976","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":"IFRD1","name":"interferon related developmental regulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5456","ensembl":"ENSG00000006652","omim":"603502","loci":["7q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2018-04-17","source":"11992570[PMID]","terms":[{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002600","label":"Hyporeflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010546","label":"Muscle fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030187","label":"Titubation","frequency":"Occasional (29-5%)","criteria":null}]}}