{"orpha":624259,"name":"Non-specific autoimmune cerebellar ataxia with characteristic antibodies","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Non-specific autoimmune CA with characteristic antibodies"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-624259/","orphanet_url":"https://www.orpha.net/en/disease/detail/624259","names":{"fr":{"name":"Ataxie cérebelleuse auto-immune non-spécifique avec anticorps caractéristiques","synonyms":["AC auto-immune non-spécifique avec anticorps caractéristiques"]},"de":{"name":"Unspezifische autoimmune zerebelläre Ataxie mit charakteristischen Antikörpern"},"es":{"name":"Ataxia cerebelosa autoinmune inespecífica con anticuerpos característicos","synonyms":["AC autoinmune inespecífica con anticuerpos característicos"]},"it":{"name":"Atassia cerebellare autoimmune aspecifica con anticorpi caratteristici","synonyms":["AC autoimmune aspecifica con anticorpi caratteristici"]},"nl":{"name":"Aspecifieke auto-immune cerebellaire ataxie met typische antilichamen","synonyms":["Aspecifieke auto-immune CA met typische antilichamen"]},"pt":{"name":"Ataxia cerebelosa autoimune não-específica com anticorpos característicos","synonyms":["CA autoimune não-específica com anticorpos característicos"]},"pl":{"name":"Nieswoista autoimmunologiczna ataksja móżdżkowa z charakterystycznymi przeciwciałami","synonyms":["Non-specific autoimmune CA with characteristic antibodies"]},"cs":{"name":"Nespecifická autoimunitní cerebelární ataxie s charakteristickými protilátkami","synonyms":["Non-specific autoimmune CA with characteristic antibodies"]},"uk":{"name":"Неспецифічна аутоімунна мозочкова атаксія з характерними антитілами","synonyms":["Неспецифічна аутоімунна ХА з характерними антитілами"]}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0850108","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680404","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":623638,"name":"Immune-mediated cerebellar ataxia","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-08-19","source":"17008044[PMID]_36437687[PMID]_33782191[PMID]","terms":[{"hpo":"HP:6000876","label":"Anti-Glutamate Receptor delta2 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000880","label":"Anti-neurochondrin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000879","label":"Anti-regulator of G protein signaling 8 antibody positivity","frequency":"Frequent (79-30%)","criteria":null}]}}