{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal dominant pure HSP","Autosomal dominant pure SPG","Autosomal dominant uncomplicated HSP","Autosomal dominant uncomplicated SPG","Autosomal dominant uncomplicated spastic paraplegia"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-100980/","orphanet_url":"https://www.orpha.net/en/disease/detail/100980","names":{"fr":{"name":"Paraplégie spastique autosomique dominante pure","synonyms":["HSP autosomique dominante pure","SPG autosomique dominante pure"]},"de":{"name":"Hereditäre spastische Paraplegie, autosomal-dominante reine"},"es":{"name":"Paraplejía espástica hereditaria autosómica dominante pura"},"it":{"name":"Paraplegia spastica ereditaria, autosomica dominante pura"},"nl":{"name":"Autosomaal dominante zuivere spastische paraplegie"},"pt":{"name":"Paraplegia espástica autossómica dominante pura"},"pl":{"name":"Autosomalna dominująca czysta paraplegia spastyczna","synonyms":["Autosomalna dominująca czysta HSP","Autosomalna dominująca czysta SPG","Autosomalna dominująca niepowikłana HSP","Autosomalna dominująca niepowikłana paraplegia spastyczna","Autosomalna dominująca niepowikłana SPG"]},"cs":{"name":"Autozomálně dominantní čistě spastická paraplegie","synonyms":["Autozomálně dominantní čistá HSP","Autozomálně dominantní čistá SPG","Autozomálně dominantní nekomplikovaná HSP","Autozomálně dominantní nekomplikovaná SPG","Autozomálně dominantní nekomplikovaná spastická paraplegie"]},"uk":{"name":"Аутосомно-домінантна чиста спастична параплегія","synonyms":["Аутосомно-домінантний чистий HSP","Аутосомно-домінантний чистий SPG","Аутосомно-домінантний неускладнений HSP","Аутосомно-домінантна неускладнена спастична параплегія","Аутосомно-домінантний неускладнений SPG"]},"zh":{"name":"常染色体显性遗传纯痉挛性截瘫","synonyms":["常染色体显性遗传非复杂型痉挛性截瘫"]},"tr":{"name":"Otozomal dominant saf spastik parapleji","synonyms":["Otozomal baskın saf HSP","Otozomal baskın saf KMT","Otozomal baskın komplike olmayan HSP","Otozomal baskın komplike olmayan SPG","Otozomal baskın komplike olmayan spastik parapleji"]}},"xrefs":[{"source":"MONDO","code":"15088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680378","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19771","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102012,"name":"Pure hereditary spastic paraplegia","classifications":[156,181]}],"children":[{"orpha":694356,"name":"ADAR-related hereditary spastic paraplegia","type":"Disease"},{"orpha":100993,"name":"Autosomal dominant spastic paraplegia type 12","type":"Disease"},{"orpha":100999,"name":"Autosomal dominant spastic paraplegia type 19","type":"Disease"},{"orpha":171612,"name":"Autosomal dominant spastic paraplegia type 37","type":"Disease"},{"orpha":320355,"name":"Autosomal dominant spastic paraplegia type 41","type":"Disease"},{"orpha":171863,"name":"Autosomal dominant spastic paraplegia type 42","type":"Disease"},{"orpha":444099,"name":"Autosomal dominant spastic paraplegia type 73","type":"Disease"},{"orpha":631068,"name":"Autosomal dominant spastic paraplegia type 80","type":"Disease"},{"orpha":401849,"name":"Autosomal spastic paraplegia type 72","type":"Disease"},{"orpha":689231,"name":"IFIH1-related hereditary spastic paraplegia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"Norway","status":"Not yet validated","source":"22554690[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Ireland","status":"Validated","source":"22554690[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}