{"orpha":320411,"name":"Autosomal recessive spastic paraplegia type 56","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG56"],"definition":"A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320411/","orphanet_url":"https://www.orpha.net/en/disease/detail/320411","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 56","synonyms":["SPG56"],"definition":"Forme rare de paraplégie spastique héréditaire caractérisée par un retard d'acquisition de la marche, une marche sur la pointe des pieds, une démarche instable et spastique, une hyperréflexie des membres inférieurs et le signe de Babinski positif. Une spasticité et une dystonie des membres supérieurs, une neuropathie axonale subclinique, des troubles cognitifs et une déficience intellectuelle sont également associés."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 56","synonyms":["SPG56"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 56","synonyms":["SPG56"],"definition":"Es una forma poco frecuente de paraplejía espástica hereditaria caracterizada por retraso de la deambulación, marcha en puntillas, inestable y espástica, hiperreflexia de los miembros inferiores y respuestas plantares extensoras. También se ha asociado espasticidad y distonía en las extremidades superiores, neuropatía axonal subclínica y discapacidad cognitiva e intelectual."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 56","synonyms":["SPG56"],"definition":"È una forma rara di paraplegia spastica ereditaria, caratterizzata da ritardo della deambulazione, deambulazione in punta dei piedi, andatura instabile e spastica, iperreflessia degli arti inferiori e risposte plantari in estensione. Possono associarsi la spasticità degli arti superiori, la distonia, la neuropatia assonale subclinica, i deficit cognitivi e la disabilità intellettiva."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 56","synonyms":["SPG56"],"definition":"Een zeldzame vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door vertraging in het bereiken van zelfstandig stappen, tenenlopen, onvaste en spastische gang, hyperreflexie van de onderste ledematen, en voetzoolreflexen in extensie. Spasticiteit en dystonie van de bovenste ledematen, subklinische axonale neuropathie, cognitieve en intellectuele beperking werden ook reeds geassocieerd."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 56"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 56","synonyms":["SPG56"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 56","synonyms":["SPG56"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 56","synonyms":["SPG56"],"definition":"A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫56型","synonyms":["SPG56"],"definition":"一种罕见的遗传性痉挛性截瘫，其特征为延迟步行、脚趾行走、步态不稳和痉挛、下肢反射亢进和足底伸肌反应。也可表现为上肢痉挛和肌张力障碍、亚临床轴突性神经病、认知障碍和智力残疾。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 56","synonyms":["SPG56"]}},"xrefs":[{"source":"OMIM","code":"615030","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014015","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3539507","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CYP2U1","name":"cytochrome P450 family 2 subfamily U member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23176821[PMID]","hgnc":"20582","ensembl":"ENSG00000155016","omim":"610670","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23176821[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23176821[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-09","source":"23176821[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null}]}}