{"orpha":100993,"name":"Autosomal dominant spastic paraplegia type 12","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG12"],"definition":"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100993/","orphanet_url":"https://www.orpha.net/en/disease/detail/100993","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 12","synonyms":["SPG12"],"definition":"La paraplégie spastique autosomique dominante type 12 est une forme pure de paraplégie spastique héréditaire caractérisée par l'apparition de l'enfance à l'âge adulte d'une spasticité lentement progressive des membres inférieurs et d'une hyperréflexie des extrémités inférieures, des réflexes plantaires d'extension, un trouble sensoriel distal, des troubles urinaires variables et des pieds creux."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 12","synonyms":["SPG12"],"definition":"Die autosomal-dominante spastische Paraplegie Typ 12 ist eine reine Form der hereditären spastischen Paraplegie, die durch eine im Kindes- bis Erwachsenenalter auftretende, langsam progrediente Spastik und Hyperreflexie der unteren Extremitäten, extensorischer Plantarreflex, distale sensorische Beeinträchtigung, variable Harndrangstörung und Pes cavus gekennzeichnet ist."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 12","synonyms":["SPG12"],"definition":"Es una forma pura de paraplejía espástica hereditaria caracterizada por la aparición de espasticidad lentamente progresiva e hiperreflexia de las extremidades inferiores, reflejos plantares extensores, deterioro sensitivo distal, disfunción urinaria variable y pies cavos."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 12","synonyms":["SPG12"],"definition":"La paraplegia spastica autosomica dominante tipo 12 è una forma pura di paraplegia spastica ereditaria, caratterizzata da spasticità degli arti inferiori a progressione lenta e iperreflessia delle estremità inferiori, riflessi estensori plantari, deficit sensoriali distali, disfunzioni urinarie di grado variabile e piede cavo. L'esordio si colloca tra l'infanzia e l'età adulta"},"nl":{"name":"Autosomaal dominante spastische paraplegie type 12","synonyms":["SPG12"],"definition":"Een zuivere vorm van erfelijke spastische paraplegie, gekarakteriseerd door aanvang in de kindertijd tot de volwassenheid van traag progressieve spasticiteit en hyperreflexie van onderste ledematen, afwijkende voetzoolreflexen, distale sensorische stoornissen, variabele urinaire disfunctie en pes cavus (holvoet)."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 12","synonyms":["SPG12"]},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 12","synonyms":["SPG12"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 12","synonyms":["SPG12"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 12","synonyms":["SPG12"],"definition":"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus."},"zh":{"name":"常染色体显性遗传痉挛性截瘫12型","synonyms":["SPG12"],"definition":"常染色体显性遗传性痉挛性截瘫12型一种单纯形式的遗传性痉挛性截瘫，其特征是从儿童到成年，出现缓慢进行性下肢痉挛和下肢反射亢进、足底伸肌反射、远端感觉障碍、可变性排尿功能障碍和高弓足。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 12","synonyms":["SPG12"]}},"xrefs":[{"source":"OMIM","code":"604805","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":"598149528"},{"source":"MONDO","code":"0011489","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537484","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858106","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9586","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":"RTN2","name":"reticulon 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22232211[PMID]","hgnc":"10468","ensembl":"ENSG00000125744","omim":"603183","loci":["19q13.32"]},{"symbol":"UBAP1","name":"ubiquitin associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32934340[PMID]","hgnc":"12461","ensembl":"ENSG00000165006","omim":"609787","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"22232211[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22232211[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"10677333[PMID]_10441583[PMID]_12427890[PMID]_22232211[PMID]","terms":[{"hpo":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030014","label":"Female sexual dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","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:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040307","label":"Male sexual dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012898","label":"Abnormal lower-limb motor evoked potentials","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}