{"orpha":623626,"name":"Paraneoplastic cerebellar degeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PCD","Paraneoplastic cerebellar ataxia","Rapidely progressive cerebellar syndrome","Subacute cerebellar degeneration"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-623626/","orphanet_url":"https://www.orpha.net/en/disease/detail/623626","names":{"fr":{"name":"Dégénérescence cérébelleuse paranéoplasique","synonyms":["Ataxie cérébelleuse paranéoplasique","Ataxie cérébelleuse à progression rapide","Dégénérescence cérébelleuse subaiguë","Syndrome cérébelleux à progression rapide"]},"de":{"name":"Paraneoplastische zerebelläre Degeneration","synonyms":["PCD","Paraneoplastische zerebelläre Ataxie","Schnell fortschreitendes zerebelläres Syndrom","Subakute zerebelläre Degeneration"]},"es":{"name":"Degeneración cerebelosa paraneoplásica","synonyms":["Ataxia cerebelosa paraneoplásica","Degeneración cerebelosa subaguda","Síndrome cerebeloso rápidamente progresivo"]},"it":{"name":"Degenerazione cerebellare paraneoplastica","synonyms":["Atassia cerebellare paraneoplastica","Degenerazione cerebellare subacuta","PCD","Sindrome cerebellare a progressione rapida"]},"nl":{"name":"Paraneoplastische cerebellaire degeneratie","synonyms":["PCD","Paraneoplastische cerebellaire ataxie","Snel progressief cerebellair syndroom","Subacute cerebellaire degeneratie"]},"pt":{"name":"Degenerescência cerebelosa paraneoplásica","synonyms":["Ataxia cerebelosa paraneoplásica","Degenerescência cerebelosa subaguda","PCD","Síndrome cerebeloso com rápida progressão"]},"pl":{"name":"Paranowotworowe zwyrodnienie móżdżku","synonyms":["PCD","Paraneoplastic cerebellar ataxia","Rapidely progressive cerebellar syndrome","Subacute cerebellar degeneration"]},"cs":{"name":"Paraneoplastická cerebelární degenerace","synonyms":["PCD","Paraneoplastic cerebellar ataxia","Rapidely progressive cerebellar syndrome","Subacute cerebellar degeneration"]},"uk":{"name":"Паранеопластична дегенерація мозочка","synonyms":["Паранеопластична мозочкова атаксія","PCD","Швидко прогресуючий мозочковий синдром","Підгостра дегенерація мозочка"]}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8E4A.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1087616692"},{"source":"MONDO","code":"0044877","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020362","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393534","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]},{"orpha":36388,"name":"Paraneoplastic neurologic syndrome","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9553,"area":"Europe","status":"Validated","source":"31552550[PMID]_32847939[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2225,"area":"Europe","status":"Validated","source":"31552550[PMID]_32847939[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6869,"area":"France","status":"Validated","source":"32847939[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"France","status":"Validated","source":"32847939[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2236,"area":"Italy","status":"Validated","source":"31552550[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.285,"area":"Italy","status":"Validated","source":"31552550[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-30","source":"32809473[PMID]_34827413[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000397","label":"CSF oligoclonal immunoglobulin G bands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000006","label":"Anti-CV2/CRMP5 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5000016","label":"Anti-Hu antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5000030","label":"Anti-Ri antibody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5000034","label":"Anti-Tr/DNER antibody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5000037","label":"Anti-Yo antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5000024","label":"Anti-mGluR1 antibody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012189","label":"Hodgkin lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011134","label":"Low-grade fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033834","label":"Malaise","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null}]}}