{"orpha":100998,"name":"Autosomal dominant spastic paraplegia type 17","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG17","Silver syndrome","Spastic paraplegia-amyotrophy of hands and feet"],"definition":"A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100998/","orphanet_url":"https://www.orpha.net/en/disease/detail/100998","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 17","synonyms":["SPG17","Syndrome de Silver","Syndrome de paraplégie spastique-amyotrophie des pieds et des mains"],"definition":"Paraplégie spastique héréditaire complexe caractérisée par une paraplégie spastique progressive, une atrophie musculaire des membres supérieurs et inférieurs, une hyperréflexie, un signe de Babinski positif, des pieds creux et parfois une altération du sens des vibrations. Une association avec l'amyotrophie des muscles de la main est typique."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 17","synonyms":["SPG17","Silver-Syndrom","Spastische Paraplegie - Amyotrophie der Hände und Füße"]},"es":{"name":"Paraplejía espástica autosómica dominante tipo 17","synonyms":["Paraplejía espástica-amiotrofia de manos y pies","SPG17","Síndrome de Silver"],"definition":"Es una paraplejía espástica hereditaria compleja caracterizada por paraplejía espástica progresiva, atrofia muscular de las extremidades superiores e inferiores, hiperreflexia, reflejo plantar extensor, pie cavo y, ocasionalmente, alteración de la sensibilidad vibratoria. Se asocia típicamente a amiotrofia de los músculos de la mano."},"it":{"name":"Paraplegia spastica autosomica dominante tipo 17","synonyms":["Neuropatia motoria distale ereditaria, tipo 5B","Paraplegia spastica - amiotrofia delle mani e dei piedi","SPG17","Sindrome di Silver","dHMN5B"],"definition":"È una paraplegia spastica complessa ereditaria, caratterizzata da paraplegia spastica progressiva, atrofia dei muscoli degli arti superiori e inferiori, iperreflessia, risposte plantari in estensione, piede cavo e, raramente, deficit del senso della vibrazione. Di solito si associa ad amiotrofia dei muscoli delle mani."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 17","synonyms":["SPG17","Spastische paraplegie - amyotrofie van handen en voeten","Syndroom van Silver"],"definition":"Een complexe, erfelijke, spastische paraplegie die gekarakteriseerd wordt door progressieve spastische paraplegie, spieratrofie in bovenste en onderste ledematen, hyperreflexie, pathologische voetzoolreflexen, holvoet en occasioneel verstoorde waarneming van vibratie. Associatie met amyotrofie van handspieren is typisch."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 17","synonyms":["SPG17","Síndrome Silver"]},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 17","synonyms":["SPG17","Zespół Silvera","Paraplegia spastyczna-amiotrofia dłoni i stóp"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 17","synonyms":["Distální hereditární motorická neuropatie, typ 5B","SPG17","Spastická paraplegie a amyotrofie rukou a nohou","dHMN5B","Silverův syndrom"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 17","synonyms":["Синдром Сільвера","Спастична параплегія-аміотрофія рук і ніг","SPG17"],"definition":"A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical."},"zh":{"name":"常染色体显性遗传痉挛性截瘫17型","synonyms":["痉挛性截瘫-远端肌肉萎缩"],"definition":"常染色体显性遗传性痉挛性截瘫17型是一种复杂的遗传性痉挛性截瘫，以进行性痉挛性截瘫、上下肢肌肉萎缩、反射亢进、足底伸肌反应、高弓足和偶尔振动觉受损为特征。伴有典型的手肌肌萎缩症。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 17","synonyms":["SPG17","Silver sendrom","Spastik parapleji-el ve ayaklarda amyotrofi"]}},"xrefs":[{"source":"OMIM","code":"270685","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":"465472056"},{"source":"MONDO","code":"0010043","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536644","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931276","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4219","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100979,"name":"Autosomal dominant complex spastic paraplegia","classifications":[156,181]},{"orpha":140465,"name":"Autosomal dominant distal hereditary motor neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"BSCL2","name":"BSCL2 lipid droplet biogenesis associated, seipin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14981520[PMID]","hgnc":"15832","ensembl":"ENSG00000168000","omim":"606158","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"13680364[PMID]_23553728[PMID]","terms":[{"hpo":"HP:0001436","label":"Abnormality of the foot musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009130","label":"Hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040131","label":"Abnormal motor nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031374","label":"Ankle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030838","label":"Hip pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Occasional (29-5%)","criteria":null}]}}