{"orpha":2818,"name":"Spastic paraplegia-glaucoma-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare autosomal recessive complex spastic paraplegia characterized by the triad of spastic paraplegia, severe intellectual disability and glaucoma. Some patients may exhibit a milder phenotype, presenting with slowly progressive spastic paresis and moderate intellectual disability. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2818/","orphanet_url":"https://www.orpha.net/en/disease/detail/2818","names":{"fr":{"name":"Syndrome de paraplégie spastique-glaucome-déficience intellectuelle","definition":"Paraplégie spastique complexe autosomique récessive rare, caractérisée par la triade associant paraplégie spastique, déficience intellectuelle sévère et glaucome. Certains patients peuvent présenter un phénotype plus léger, avec une parésie spastique lentement progressive et une déficience intellectuelle modérée. Aucun cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"Spastische Paraplegie-Glaukom-Intelligenzminderung-Syndrom","definition":"Eine seltene autosomal-rezessive komplexe spastische Paraplegie, die durch die Trias aus spastischer Paraplegie, schwerer Intelligenzminderung und Glaukom gekennzeichnet ist. Einige Patienten können einen milderen Phänotyp mit langsam fortschreitender spastischer Parese und mäßiger Intelligenzminderung aufweisen. Seit 1986 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de paraplejía espástica-glaucoma-discapacidad intelectual","definition":"Es una paraplejía espástica compleja autosómica recesiva poco frecuente caracterizada por la tríada de paraplejía espástica, discapacidad intelectual grave y glaucoma. Algunos pacientes pueden presentar un fenotipo más leve, con paresia espástica de progresión lenta y discapacidad intelectual moderada. No ha habido más descripciones en la literatura desde 1986."},"it":{"name":"Sindrome paraplegia spastica-glaucoma-disabilità intellettiva"},"nl":{"name":"Spastische paraplegie - glaucoom - intellectuele achterstand-syndroom","definition":"Een zeldzame autosomaal recessieve complexe spastische paraplegie, gekenmerkt door de triade van spastische paraplegie, ernstige intellectuele achterstand en glaucoom. Sommige patiënten kunnen een milder fenotype vertonen, met traag progressieve spastische parese en matige intellectuele achterstand. Sinds 1986 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de paraplegia espástica-glaucoma-perturbação do desenvolvimento intelectual"},"pl":{"name":"Paraplegia spastyczna - jaskra - niepełnosprawność intelektualna"},"cs":{"name":"Syndrom zahrnující spastickou paraplegii, glaukom a mentální retardaci"},"uk":{"name":"Синдром спастичної параплегії-глаукоми-інтелектуальної недостатності","definition":"Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive."},"zh":{"name":"痉挛性截瘫-青光眼-智力障碍综合征"},"tr":{"name":"Spastik parapleji-glokom-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"270850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010049","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518786","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4931","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7298353[PMID]_3802560[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7298353[PMID]_3802560[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-26","source":null,"terms":[{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null}]}}