{"orpha":319199,"name":"Autosomal recessive spastic paraplegia type 53","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG53"],"definition":"Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the <i>VPS37A</i> gene (8p22) encoding vacuolar protein sorting-associated protein 37A.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319199/","orphanet_url":"https://www.orpha.net/en/disease/detail/319199","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 53","synonyms":["SPG53"],"definition":"Type très rare de paraplégie spastique héréditaire complexe caractérisée par une paraplégie spastique précoce (à type de spasticité des extrémités inférieures progressant vers les extrémités supérieures) associée à un retard de développement et moteur, à une déficience intellectuelle et un retard de langage léger à modéré, à une dysmorphie squelettique (à type de cyphose et de pectus excavatum), à une hypertrichose et à une altération légère de la sensibilité vibratoire. La SPG53 est due à des mutations du gène <i>VPS37A</i> (8p22) codant pour la protéine 37A associée au tri des protéines vacuolaires."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 53","synonyms":["SPG53"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 53 (SPG53) ist eine sehr seltene, komplexe Form der hereditären spastischen Paraplegie. Sie zeichnet sich durch eine früh einsetzende spastische Paraplegie (mit Spastik in den unteren Extremitäten, welche auf die oberen übergehen) aus. Hinzu kommen sowohl eine motorische als auch eine milde bis moderate kognitive und sprachliche Entwicklungsverzögerung, skeletale Dysmorphien (z. B. Kyphose und Pectus), Hypertrichose und eine leichte Störung der Vibrationsempfindlichkeit. SPG53 wird durch Mutationen im <i>VPS37A</i>-Gen (8p22) verursacht, welches das vacuolar protein sorting-Protein 37A kodiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 53","synonyms":["SPG53"],"definition":"Es un tipo complejo de paraplejía espástica hereditaria muy poco frecuente caracterizado por paraplejía espástica de inicio temprano (con espasticidad en las extremidades inferiores que progresa a las extremidades superiores) asociada a un retraso motor y del desarrollo, un retraso cognitivo y del habla de leve a moderado, deformidades esqueléticas (como cifosis y pectus excavatum), hipertricosis y sensibilidad vibratoria ligeramente alterada. La SPG53 se debe a mutaciones en el gen <i>VPS37A</i> (8p22) que codifica para una proteína asociada a la proteína de clasificación vacuolar 37A."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 53","synonyms":["SPG53"],"definition":"La paraplegia spastica autosomica recessiva tipo 53 (SPG53) è una forma molto rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica ad esordio precoce (con spasticità delle estremità inferiori a progressione verso le estremità superiori), associata a ritardo motorio e dello sviluppo, ritardo lieve-moderato cognitivo e dell'acquisizione del linguaggio, dismorfismi scheletrici (cifosi e pectus excavatum), ipertricosi e compromissione lieve del senso della vibrazione. La SPG53 è causata dalle mutazioni del gene VPS37A (8p22) che codifica la proteina 37A associata allo smistamento della proteina vacuolare."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 53","synonyms":["SPG53"],"definition":"Autosomaal recessieve spastische paraplegie type 53 (SPG53) is een zeer zeldzaam, complex type van erfelijke spastische paraplegie dat gekarakteriseerd wordt door vroeg aanvangende spastische paraplegie (met spasticiteit in de onderste ledematen die evolueert naar de bovenste ledematen), geassocieerd met motorische en ontwikkelingsachterstand, milde tot matige cognitieve en spraakachterstand, skeletdysmorfie (e.g. kyfose en pectus), hypertrichose, en een mild verstoorde zintuigelijke waarneming van vibraties. SPG53 wordt veroorzaakt door mutaties in het gen <i>VPS37A</i> (8p22), dat codeert voor het vacuolaire proteïne-sortering geassocieerd proteïne 37A."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 53","synonyms":["SPG53"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 53","synonyms":["SPG53"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 53","synonyms":["SPG53"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 53","synonyms":["SPG53"],"definition":"Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the <i>VPS37A</i> gene (8p22) encoding vacuolar protein sorting-associated protein 37A."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫53型","synonyms":["SPG53型"],"definition":"常染色体隐性痉挛性截瘫53型（SPG53）是一种非常罕见的遗传性痉挛性截瘫，其特征是早发性痉挛性截瘫（下肢痉挛发展至上肢），伴有发育和运动迟缓、轻至中度认知和言语迟缓、骨骼肌痉挛畸形（如脊柱后凸和鸡胸）、多毛症和轻度振动感受损。SPG53是由编码空泡蛋白分类相关蛋白37A的VPS37A基因（8p22）突变引起的。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 53","synonyms":["SPG53"]}},"xrefs":[{"source":"OMIM","code":"614898","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013962","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3539494","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17445","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"VPS37A","name":"VPS37A subunit of ESCRT-I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22717650[PMID]","hgnc":"24928","ensembl":"ENSG00000155975","omim":"609927","loci":["8p22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"22717650[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22717650[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-04","source":"22717650[PMID]","terms":[{"hpo":"HP:0002169","label":"Clonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200049","label":"Upper limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000372","label":"Abnormality of the auditory canal","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}