{"orpha":101111,"name":"Spinocerebellar ataxia type 25","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA25"],"definition":"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101111/","orphanet_url":"https://www.orpha.net/en/disease/detail/101111","names":{"fr":{"name":"Ataxie spinocérébelleuse type 25","synonyms":["SCA25"],"definition":"L'ataxie spinocérébelleuse (ASC) de type 25 est une forme très rare d'ataxie cérébelleuse autosomique dominante (ACAD) de type I caractérisée par une ataxie cérébelleuse et une neuropathie sensitive importante."},"de":{"name":"Ataxie, spinozerebelläre, Typ 25","synonyms":["SCA25"],"definition":"Die Spinozerebelläre Ataxie Typ 25 (SCA25) ist ein sehr seltener Subtyp des Typs I der Autosomal-dominanten zerebellären Ataxie (ADCA Typ I; s. dort) und gekennzeichnet durch zerebelläre Ataxie und schwere sensorische Neuropathie."},"es":{"name":"Ataxia espinocerebolosa tipo 25","synonyms":["SCA25"],"definition":"La ataxia espinocerebolosa tipo 25 (SCA25) es un subtipo muy poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I; consulte este término). Se caracteriza por ataxia cerebelosa y neuropatía sensorial importante."},"it":{"name":"Atassia spinocerebellare, tipo 25","synonyms":["SCA25"],"definition":"L'atassia spinocerebellare tipo 25 (SCA25) è un sottotipo molto raro dell'atassia cerebellare autosomica dominante tipo 1 (ADCA tipo 1; si veda questo termine). È caratterizzata da atassia cerebellare e neuropatia sensoriale marcata."},"nl":{"name":"Spinocerebellaire ataxie type 25","synonyms":["SCA25"],"definition":"Spinocerebellaire ataxie type 25 (SCA25) is een zeer zeldzaam subtype van type I autosomaal dominante cerebellaire ataxie (ADCA type I; zie deze term). Het is gekenmerkt door cerebellaire ataxie en opvallende sensorische neuropathie."},"pt":{"name":"Ataxia espinocerebelosa tipo 25","synonyms":["SCA25"],"definition":"A ataxia espinocerebelosa tipo 25 (SCA25) é um subtipo muito raro de ataxia cerebelosa autossómica dominante tipo I (ADCA tipo I; ver este termo). É caracterizada por ataxia cerebelosa e neuropatia sensorial proeminente."},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 25","synonyms":["SCA25"]},"cs":{"name":"Spinocerebelární ataxie, typ 25","synonyms":["SCA25"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 25","synonyms":["SCA25"],"definition":"Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy."},"zh":{"name":"脊髓小脑共济失调25型","synonyms":["SCA25"],"definition":"脊髓小脑性共济失调25型(SCA25)是I型常染色体显性遗传性小脑性共济失调(ADCAI型，见该词条)的一种非常罕见的亚型。其特点是小脑性共济失调和明显的感觉神经病变。"},"tr":{"name":"Spinoserebellar ataksi tip 25","synonyms":["SCA25"]}},"xrefs":[{"source":"OMIM","code":"608703","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":"8347192"},{"source":"MONDO","code":"0012103","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537202","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837518","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9996","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":"PNPT1","name":"polyribonucleotide nucleotidyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35411967[PMID]","hgnc":"23166","ensembl":"ENSG00000138035","omim":"610316","loci":["2p16.1"]},{"symbol":"SCA25","name":"spinocerebellar ataxia 25","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20684","ensembl":null,"omim":null,"loci":["2p21-p15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"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":"2018-05-09","source":"14705117[PMID]_21619691[PMID]","terms":[{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031422","label":"Abnormal morphology of the cerebellar cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002522","label":"Areflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003387","label":"Decreased number of large peripheral myelinated nerve fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011468","label":"Facial tics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006937","label":"Impaired distal tactile sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000317","label":"Facial myokymia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}