{"orpha":276183,"name":"Spinocerebellar ataxia type 32","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebellar ataxia with azoospermia and intellectual disability","SCA32"],"definition":"An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276183/","orphanet_url":"https://www.orpha.net/en/disease/detail/276183","names":{"fr":{"name":"Ataxie spinocérébelleuse type 32","synonyms":["SCA32","Ataxie cérébelleuse avec azoospermie et déficience intellectuelle"],"definition":"Ataxie cérébelleuse autosomique dominante de type 1 qui se caractérise par une ataxie et des troubles cognitifs. L'azoospermie est une caractéristique typique chez les hommes atteints."},"de":{"name":"Ataxie, spinozerebelläre, Typ 32","synonyms":["SCA32","Zerebelläre Ataxie mit Azoospermie und Intelligenzminderung"],"definition":"Eine autosomal-dominante zerebelläre Ataxie Typ 1, die durch Ataxie und kognitive Beeinträchtigung gekennzeichnet ist. Azoospermie ist ein typisches Merkmal bei betroffenen Männern."},"es":{"name":"Ataxia espinocerebelosa tipo 32","synonyms":["Ataxia cerebelosa con azoospermia y discapacidad intelectual","SCA32"],"definition":"Es una ataxia cerebelosa autosómica dominante de tipo I caracterizada por ataxia y deterioro cognitivo. La azoospermia es un hallazgo típico en los varones afectados."},"it":{"name":"Atassia spinocerebellare tipo 32","synonyms":["Atassia cerebellare con azoospermia e deficit cognitivo","SCA32"],"definition":"L'atassia spinocerebellare tipo 32 (SCA32) è una forma di atassia cerebellare autosomica dominante tipo I, caratterizzata da atassia e deficit cognitivo. I maschi in genere presentano azoospermia."},"nl":{"name":"Spinocerebellaire ataxie type 32","synonyms":["Cerebellaire ataxie met azoöspermie en intellectuele achterstand","SCA32"],"definition":"Een autosomaal dominante cerebellaire ataxie type 1, gekarakteriseerd door ataxie en cognitieve functiestoornis. Azoöspermie is een typisch kenmerk bij getroffen mannen."},"pt":{"name":"Ataxia espinocerebelosa tipo 32","synonyms":["Ataxia cerebelosa com azospermia e perturbação do desenvolvimento intelectual","SCA32"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 32","synonyms":["Ataksja móżdżkowa z azoospermią i niepełnosprawnością intelektualną","SCA32"]},"cs":{"name":"Spinocerebelární ataxie, typ 32","synonyms":["Cerebelární ataxie s azoospermií a mentální retardací","SCA32"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 32","synonyms":["Мозочкова атаксія з азооспермією та інтелектуальною недостатністю","SCA32"],"definition":"An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males."},"zh":{"name":"脊髓小脑性共济失调32型","synonyms":["小脑共济失调伴无精症和智力障碍"],"definition":"一种常染色体显性遗传性小脑性共济失调1型，以共济失调和认知障碍为特征。无精子症是受影响男性的典型特征。"},"tr":{"name":"Spinoserebellar ataksi tip 32","synonyms":["SCA32","Azospermi ve zihinsel yetersizlik ile seyreden serebellar ataksi"]}},"xrefs":[{"source":"OMIM","code":"613909","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":"1372046516"},{"source":"MONDO","code":"0013486","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151343","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCA32","name":"spinocerebellar ataxia 32","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"37475","ensembl":null,"omim":null,"loci":["7q32-q33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"Jiang_Zhu_Gomez 2010[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":"2018-11-19","source":"ISBN:9780124051959[OTHER]","terms":[{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000029","label":"Testicular atrophy","frequency":"Frequent (79-30%)","criteria":null}]}}