{"orpha":631073,"name":"Autosomal recessive spastic paraplegia type 82","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-631073/","orphanet_url":"https://www.orpha.net/en/disease/detail/631073","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 82"},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 82"},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 82"},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 82"},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 82"},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 82"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 82"},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 82"},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 82"}},"xrefs":[{"source":"OMIM","code":"618770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032906","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PCYT2","name":"phosphate cytidylyltransferase 2, ethanolamine","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31637422[PMID]","hgnc":"8756","ensembl":"ENSG00000185813","omim":"602679","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"31637422[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31637422[PMID]_ORPHANET"}],"phenotypes":null}