{"orpha":320380,"name":"Autosomal recessive spastic paraplegia type 54","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG54"],"definition":"Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the <i>DDHD2</i> gene (8p11.23) encoding phospholipase DDHD2.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320380/","orphanet_url":"https://www.orpha.net/en/disease/detail/320380","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 54","synonyms":["SPG54"],"definition":"La paraplégie spastique autosomique récessive type 54 (SPG54) est une forme rare et complexe de paraplégie spastique héréditaire. Elle se caractérise par l'apparition en début d'enfance d'une paraplégie spastique progressive associée à des signes cérébelleux, une petite taille, un retard de développement psychomoteur, un déficit intellectuel et, plus rarement, des contractures au niveau des pieds, une dysarthrie, une dysphagie, un strabisme et une hypoplasie optique."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 54","synonyms":["SPG54"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 54 (SPG54) ist eine seltene, komplexe Form der hereditären spastischen Paraplegie, die durch progressive spastische Paraplegie mit Beginn im frühen Kindesalter und zerebellären Zeichen, Minderwuchs, verzögerter psychomotorischer Entwicklung, Intelligenzminderung und, weniger häufig, Fußkontrakturen, Dysarthrie, Dysphagie, Strabismus und Sehnervhypoplasie gekennzeichnet ist."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 54","synonyms":["SPG54"],"definition":"Es una forma poco frecuente y compleja de paraplejía espástica hereditaria caracterizada por el inicio en la infancia temprana de paraplejía espástica progresiva asociada a signos cerebelosos, talla baja, retraso en el desarrollo psicomotor, discapacidad intelectual y, con menor frecuencia, contracturas en los pies, disartria, disfagia, estrabismo e hipoplasia óptica."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 54","synonyms":["SPG54"],"definition":"La paraplegia spastica autosomica recessiva tipo 54 (SPG 54) è una paraplegia spastica ereditaria complessa rara, caratterizzata da paraplegia spastica progressiva ad esordio nella prima infanzia, associata a segni cerebellari, bassa statura, ritardo dello sviluppo psicomotorio, disabilità intellettiva e, raramente, contratture dei piedi, disartria, disfagia, strabismo e ipoplasia ottica."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 54","synonyms":["SPG54"],"definition":"Autosomaal recessieve spastische paraplegie type 54 (SPG54) is een zeldzame, complexe vorm van erfelijke spastische paraplegie die wordt gekarakteriseerd door een in de vroege kindertijd aanvangende progressieve spastische paraplegie geassocieerd met cerebellaire tekenen, een kleine gestalte, psychomotorische ontwikkelingsachterstand, intellectuele achterstand, en, minder vaak voorkomend, voetcontracturen, dysartrie, dysfagie, strabisme en opticushypoplasie. SPG54 wordt veroorzaakt door mutaties in het gen <i>DDHD2</i> (8p11.23), dat codeert voor fosfolipase DDHD2."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 54"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 54","synonyms":["SPG54"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 54","synonyms":["SPG54"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 54","synonyms":["SPG54"],"definition":"Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the <i>DDHD2</i> gene (8p11.23) encoding phospholipase DDHD2."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫54型","synonyms":["SPG54"],"definition":"常染色体隐性痉挛性截瘫54型(SPG54)是一种罕见、复杂的遗传性痉挛性截瘫，其特征是在儿童早期出现进行性痉挛性截瘫，伴有小脑症状、身材矮小、精神运动发育迟缓、智力障碍，以及不太常见的足部挛缩、构音障碍、吞咽困难、斜视和视力发育不全。SPG54是由编码磷脂酶DDHD2的DDHD2基因(8p11.23)突变引起的。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 54","synonyms":["SPG54"]}},"xrefs":[{"source":"OMIM","code":"615033","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":"0014018","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3539495","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17475","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":"DDHD2","name":"DDHD domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23176823[PMID]","hgnc":"29106","ensembl":"ENSG00000085788","omim":"615003","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23486545[PMID]_24482476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23486545[PMID]_24482476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-17","source":"24424123[PMID]_23486545[PMID]_24482476[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008366","label":"Foot joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030891","label":"Periventricular white matter hyperintensities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null}]}}