{"orpha":631068,"name":"Autosomal dominant spastic paraplegia type 80","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-631068/","orphanet_url":"https://www.orpha.net/en/disease/detail/631068","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 80"},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 80"},"es":{"name":"Paraplejía espástica autosómica dominante tipo 80"},"it":{"name":"Paraplegia spastica autosomica dominante tipo 80"},"nl":{"name":"Autosomaal dominante spastische paraplegie type 80"},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 80"},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 80"},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 80"},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 80"}},"xrefs":[{"source":"OMIM","code":"618418","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816771","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"UBAP1","name":"ubiquitin associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30929741[PMID]","hgnc":"12461","ensembl":"ENSG00000165006","omim":"609787","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"30929741[PMID]_ 31203368[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30929741[PMID]_ 31203368[PMID]_ORPHANET"}],"phenotypes":null}