{"orpha":401830,"name":"Autosomal recessive spastic paraplegia type 69","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG69"],"definition":"A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401830/","orphanet_url":"https://www.orpha.net/en/disease/detail/401830","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 69","synonyms":["SPG69"],"definition":"Paraplégie spastique héréditaire complexe rare caractérisée par l'apparition, pendant la petite enfance, d'une spasticité progressive des membres inférieurs, d'un retard de développement global, d'une hyperréflexie, d'un clonus et d'un réflexe de Babinski positif, associés à une dysarthrie, une déficience intellectuelle, une cataracte et une déficience auditive."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 69","synonyms":["SPG69"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 69","synonyms":["SPG69"],"definition":"Es una paraplejía espástica hereditaria compleja y poco frecuente caracterizada por el inicio en la lactancia de espasticidad progresiva en miembros inferiores, retraso global del desarrollo, hiperreflexia, clonus y reflejos plantares extensores, asociados con disartria, discapacidad intelectual, cataratas y deficiencias auditivas."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 69","synonyms":["SPG69"],"definition":"La paraplegia spastica autosomica recessiva tipo 69 è una paraplegia spastica ereditaria complessa rara, che esordisce nella prima infanzia con spasticità progressiva degli arti inferiori, ritardo dello sviluppo globale, iperreflessia, clonie, risposte plantari in estensione, disartria, disabilità intellettiva, cataratta e compromissione dell'udito."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 69","synonyms":["SPG69"],"definition":"Autosomaal recessieve spastische paraplegie type 69 is een zeldzame, complexe erfelijke spastische paraplegie die gekarakteriseerd wordt door infantiele aanvang van progressieve spasticiteit van de onderste ledematen, algehele ontwikkelingsachterstand, hyperreflexie, clonus en pathologische voetzoolreflexen, geassocieerd met dysartrie, intellectuele beperking, cataracten en gehoorstoornis."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 69"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 69","synonyms":["SPG69"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 69 jest rzadką, złożoną, dziedziczną paraplegią spastyczną, która charakteryzuje się spastycznością kończyn dolnych o początku w wieku niemowlęcym, całościowym opóźnieniem rozwoju, wygórowaniem odruchów, stopotrząsem i obecnym objawem Babińskiego, z towarzyszącą dyzartrią, niepełnosprawnością intelektualną, zaćmą i niedosłuchem."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 69","synonyms":["SPG69"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 69","synonyms":["SPG69"],"definition":"A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫69型","synonyms":["SPG69"],"definition":"常染色体隐性遗传性痉挛性截瘫69型是一种罕见的、复杂性遗传性痉挛性截瘫疾病，其特征为婴儿期起病的进行性下肢痉挛、整体发育迟缓、反射亢进、阵挛和足底伸肌反射。本病还与构音障碍、智力残疾、白内障和听力障碍有关。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 69","synonyms":["SPG69"]}},"xrefs":[{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018421","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190577","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"21699","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]}],"children":[],"genes":[{"symbol":"RAB3GAP2","name":"RAB3 GTPase activating non-catalytic protein subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"17168","ensembl":"ENSG00000118873","omim":"609275","loci":["1q41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24482476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24482476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-31","source":"24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]","terms":[{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null}]}}