{"orpha":2826,"name":"Spastic paraplegia-precocious puberty syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2826/","orphanet_url":"https://www.orpha.net/en/disease/detail/2826","names":{"fr":{"name":"Syndrome de parésie spastique-puberté précoce","definition":"Le syndrome de parésie spastique-puberté précoce est une forme complexe de paraplégie spastique héréditaire caractérisée par la survenue d'une paraplégie spastique progressive associée à une puberté précoce (causée par une hyperplasie des cellules de Leydig) pendant l'enfance (à l'âge de deux ans). Un déficit intellectuel modéré a aussi été rapporté. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1983."},"de":{"name":"Spastische Paraplegie-vorzeitige Pubertät-Syndrom","definition":"Eine komplexe Form der hereditären spastischen Paraplegie, die durch das Auftreten einer progressiven spastischen Paraplegie in Verbindung mit einer vorzeitigen Pubertät (aufgrund einer Leydig-Zell-Hyperplasie) in der Kindheit (im Alter von 2 Jahren) gekennzeichnet ist. Es wurde auch über eine mäßige Intelligenzminderung berichtet. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de paraplejía espástica-pubertad precoz","definition":"El síndrome de paraplejía espástica-pubertad precoz es una forma compleja de paraplejía espástica hereditaria caracterizada por la aparición de paraplejía espástica progresiva asociada a pubertad precoz (debido a la hiperplasia de células de Leydig) en la infancia (a la edad de 2 años). También se observó discapacidad intelectual moderada. No ha habido descripciones adicionales en la literatura desde 1983."},"it":{"name":"Paraplegia spastica - glaucoma - pubertà precoce","definition":"La paraplegia spastica associata a pubertà precoce è una forma complessa di paraplegia spastica ereditaria; è caratterizzata da paraplegia spastica progressiva associata a pubertà precoce (secondaria all'iperplasia delle cellule di Leydig) ad esordio infantile (attorno ai 2 anni). Sono stati descritti casi di disabilità intellettiva moderata. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Spastische paraplegie - vroegtijdige puberteit-syndroom","definition":"Spastische paraplegie - vroegtijdige puberteit-syndroom is een complexe vorm van erfelijke spastische paraplegie die wordt gekarakteriseerd door aanvang in de kindertijd (op een leeftijd van 2 jaar) van progressieve spastische paraplegie geassocieerd met vroegtijdige puberteit (als gevolg van hyperplasie van Leydigcellen). Matige intellectuele achterstand werd ook gerapporteerd. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de paraplegia espástica-glaucoma-puberdade precoce"},"pl":{"name":"Paraplegia spastyczna - przedwczesne pokwitanie"},"cs":{"name":"Syndrom zahrnující spastickou paraplegii a předčasnou pubertu"},"uk":{"name":"Спастична параплегія - синдром передчасного статевого дозрівання","definition":"Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983."},"zh":{"name":"痉挛性截瘫-性早熟综合征"},"tr":{"name":"Spastik parapleji-erken büyümüş ergenlik sendromu"}},"xrefs":[{"source":"OMIM","code":"182820","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008443","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536874","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518543","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4918","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6639408[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6639408[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-26","source":"6639408[PMID]","terms":[{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010791","label":"Hyperplasia of the Leydig cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008185","label":"Precocious puberty in males","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null}]}}