{"orpha":100994,"name":"Autosomal dominant spastic paraplegia type 13","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG13"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100994/","orphanet_url":"https://www.orpha.net/en/disease/detail/100994","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 13","synonyms":["SPG13"],"definition":"Forme pure ou complexe rare de paraplégie spastique héréditaire, caractérisée par une paraplégie spastique progressive avec atteinte du faisceau pyramidal des membres supérieurs et inférieurs, et altération du sens vibratoire."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 13","synonyms":["SPG13"],"definition":"Eine reine oder komplexe Form der hereditären spastischen Paraplegie, die durch eine fortschreitende spastische Paraplegie mit pyramidalen Zeichen in den oberen und unteren Gliedmaßen und einem verminderten Vibrationsempfinden gekennzeichnet ist."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 13","synonyms":["SPG13"],"definition":"Es una forma poco frecuente, pura o compleja, de paraplejía espástica hereditaria caracterizada por paraplejía espástica progresiva con signos piramidales en las extremidades superiores e inferiores, y una disminución de la sensibilidad vibratoria."},"it":{"name":"Paraplegia spastica autosomica dominante tipo 13","synonyms":["SPG13"],"definition":"Si tratta di una forma rara, pura o complessa, di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica progressiva con segni piramidali a livello degli arti superiori e inferiori, e riduzione del senso della vibrazione."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 13","synonyms":["SPG13"],"definition":"Een zeldzame, zuivere of complexe vorm van hereditaire spastische paraplegie, gekenmerkt door progressieve spastische paraplegie met piramidale verschijnselen in bovenste en onderste ledematen, en verminderde vibratiezin."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 13","synonyms":["SPG13"],"definition":"Forma rara, pura ou complexa de paraplegia espástica hereditária caracterizada por paraplegia espástica progressiva com sinais piramidais nos membros superiores e inferiores e sensação de vibração diminuída."},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 13","synonyms":["SPG13"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 13","synonyms":["SPG13"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 13","synonyms":["SPG13"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense."},"zh":{"name":"常染色体显性遗传痉挛性截瘫13型","synonyms":["SPG13"],"definition":"常染色体显性遗传性痉挛性截瘫13型是痉挛性截瘫一种罕见的遗传性痉挛性截瘫，特征是下肢呈渐进性痉挛性截瘫，伴有锥体体征，振动觉减弱，上肢反射增强"},"tr":{"name":"Otozomal dominant spastik parapleji tip 13","synonyms":["SPG13"]}},"xrefs":[{"source":"OMIM","code":"605280","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":"index","validated":true,"icd11_uri":"188783541"},{"source":"MONDO","code":"0011532","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537485","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854467","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9616","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320342,"name":"Pure or complex autosomal dominant spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HSPD1","name":"heat shock protein family D (Hsp60) member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1189812[PMID]","hgnc":"5261","ensembl":"ENSG00000144381","omim":"118190","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"10677329[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10677329[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-26","source":"10677329[PMID]_11898127[PMID]_18853458[PMID]","terms":[{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}