{"orpha":431329,"name":"Autosomal recessive spastic paraplegia type 57","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG57","Spastic paraplegia due to partial TFG deficiency"],"definition":"Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the <i>TFG </i> gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-431329/","orphanet_url":"https://www.orpha.net/en/disease/detail/431329","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 57","synonyms":["Paraplégie spastique par déficit partiel en TFG","SPG57"],"definition":"La paraplégie spastique autosomique récessive type 57 (SPG57) est une forme complexe de paraplégie spastique héréditaire extrêmement rare. Elle se caractérise par une spasticité importante au niveau des jambes survenant pendant la petite enfance (conduisant à une incapacité à marcher de manière indépendante), une réduction de l'acuité visuelle à cause d'une atrophie optique, et une perte musculaire distale au niveau des mains et des pieds, à cause d'une neuropathie sensorimotrice démyélinisante."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 57","synonyms":["SPG57","Spastische Paraplegie durch partiellen TFG-Mangel"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 57 (SPG57) ist eine sehr seltene, komplexe Form der hereditären spastischen Paraplegie, die sich durch einen Beginn von im Kleinkindalter mit Spastik in den Beinen (führt zum Verlust des Gehvermögens), reduzierte Sehschärfe auf Grund von Sehnervatrophie und Kraftverlust der Hände und Füße aufgrund von demyelinisierender sensomotorischer Neuropathie auszeichnet."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 57","synonyms":["Paraplejía espástica por deficiencia parcial de TFG","SPG57"],"definition":"Es un tipo extremadamente complejo e infrecuente de paraplejía espástica hereditaria. Está caracterizada por un inicio en la lactancia de espasticidad pronunciada en las extremidades inferiores (que conduce a incapacidad para deambular de forma independiente), disminución de la agudeza visual por atrofia óptica y atrofia distal de manos y pies debido a una neuropatía sensitivo-motora desmielinizante axonal. La enfermedad está causada por mutaciones en el gen <i>TFG</i> (3q12.2), que codifica la proteína TFG, que se cree que desempeña un papel fundamental en la arquitectura y la función microtubular del retículo endoplasmático."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 57","synonyms":["Paraplegia spastica da deficit parziale di TFG","SPG57"],"definition":"La paraplegia spastica autosomica recessiva tipo 57 (SPG 57) è una paraplegia spastica ereditaria complessa molto rara, caratterizzata da marcata spasticità delle gambe ad esordio infantile (che causa incapacità nella deambulazione indipendente), riduzione dell'acuità visiva secondaria all'atrofia ottica, ed atrofia dei muscoli distali delle mani e dei piedi da neuropatia assonale sensitivo-motoria demielinizzante."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 57","synonyms":["SPG57","Spastische paraplegie door partiële TFG-deficiëntie"],"definition":"Autosomaal recessieve spastische paraplegie type 57 (SPG57) is een uiterst zeldzaam, complex type van erfelijke spastische paraplegie dat gekarakteriseerd wordt door een in de zuigelingentijd aanvangende uitgesproken spasticiteit van de benen (wat leidt tot een onvermogen om zelfstandig te stappen), verminderde visus als gevolg van opticusatrofie, en distale atrofie van de handen en voeten als gevolg van een axonale demyeliniserende sensomotorische neuropathie. SPG57 wordt veroorzaakt door mutaties in het gen <i>TFG</i> (3q12.2) dat codeert voor TFG, een proteïne dat vermoedelijk een rol speelt in de microtubulaire architectuur en de functie van het endoplasmatisch reticulum."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 57"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 57","synonyms":["Paraplegia spastyczna spowodowana częściowym niedoborem TFG","SPG57"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 57","synonyms":["SPG57","Spastická paraplegie způsobená parciálním deficitem TFG"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 57","synonyms":["Спастична параплегія внаслідок часткового дефіциту ТФГ","SPG57"],"definition":"Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the <i>TFG </i> gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function."},"zh":{"name":"常染色体隐性遗传性痉挛性截瘫57型","synonyms":["部分TFG缺乏导致的痉挛性截瘫"],"definition":"常染色体隐性痉挛性截瘫57型（SPG57）是一种极为罕见的复杂性遗传性痉挛性截瘫，其特征是婴儿期开始出现明显的腿部痉挛（导致无法独立行走），视神经萎缩导致视力下降，由于轴突脱髓鞘性感觉运动神经病导致的收和脚的废用。 SPG57是由 TFG 基因（3q12.2）突变导致，该基因编码蛋白质TFG，被认为在内质网的微管结构和功能中起作用。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 57","synonyms":["SPG57","Kısmi TFG eksikliğine bağlı spastik parapleji"]}},"xrefs":[{"source":"OMIM","code":"615658","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":"0014295","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3714897","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17712","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":431320,"name":"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"TFG","name":"trafficking from ER to golgi regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23479643[PMID]","hgnc":"11758","ensembl":"ENSG00000114354","omim":"602498","loci":["3q12.2"]}],"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":"23479643[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23479643[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-12","source":"2347964[PMID]","terms":[{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null}]}}