{"orpha":209951,"name":"Autosomal spastic paraplegia type 18","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG18"],"definition":"Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the <i>ERLIN2</i> gene (8p11.2) encoding the protein, Erlin-2.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209951/","orphanet_url":"https://www.orpha.net/en/disease/detail/209951","names":{"fr":{"name":"Paraplégie spastique autosomique type 18","synonyms":["SPG18"],"definition":"Type rare et complexe de paraplégie spastique héréditaire caractérisé par une paraplégie spastique progressive (se manifestant dans la petite enfance) associée à un retard de développement moteur, à une déficience intellectuelle sévère et à des contractures articulaires. L'imagerie par résonance magnétique du cerveau révèle également un corps calleux fin. La SPG18 est due à une mutation du gène <i>ERLIN2</i> (8p11.2) codant pour la protéine Erlin-2."},"de":{"name":"Spastische Paraplegie Typ 18","synonyms":["SPG18"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 18 (SPG18) ist eine seltene, komplexe Form der spastischen Paraplegie, die durch eine progressive spastische Paraplegie (beginnend in der frühen Kindheit) gekennzeichnet ist. Zusätzlich treten eine verzögerte motorische Entwicklung, eine schwere geistige Behinderung und Gelenkkontrakturen auf. Ein dünnes Corpus Callosum ist in der Magnetresonanztomographie sichtbar. SPG18 entsteht durch eine Mutation im <i>ERLIN2</i>-Gen (8p11.2), welches das Protein Erlin-2 kodiert."},"es":{"name":"Paraplejía espástica autosómica tipo 18","synonyms":["SPG18"],"definition":"Es un tipo poco frecuente y complejo de paraplejía espástica hereditaria compleja caracterizada por paraplejía espástica progresiva (de inicio en la infancia temprana) asociada a retraso en el desarrollo motor, grave discapacidad intelectual y contracturas articulares. También se ha descrito adelgazamiento del cuerpo calloso en las neuroimágenes. Estas enfermedad está causada por una mutación en el gen <i>ERLIN2</i> (8p11.2) que codifica la proteína Erlina-2."},"it":{"name":"Paraplegia spastica autosomica tipo 18","synonyms":["SPG18"],"definition":"La paraplegia spastica autosomica recessiva tipo 18 (SPG18) è una forma rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica progressiva (ad esordio nella prima infanzia), associata a ritardo dello sviluppo motorio, grave disabilità cognitiva e contratture articolari. La risonanza magnetica del cervello mostra un assottigliamento del corpo calloso. La SPG18 è causata da una mutazione nel gene ERLIN2 (8p11.2) che codifica la proteina Erlina-2."},"nl":{"name":"Autosomale spastische paraplegie type 18","synonyms":["SPG18"],"definition":"Autosomaal recessieve spastische paraplegie type 18 (SPG18) is een zeldzaam, complex type van erfelijke spastische paraplegie dat gekarakteriseerd wordt door progressieve spastische paraplegie (die zich voordoet in de vroege kindertijd), geassocieerd met motorische ontwikkelingsachterstand, ernstige intellectuele achterstand, en gewrichtscontracturen. Beeldvorming van de hersenen met magnetische resonantie toont een dun corpus callosum. SPG18 wordt veroorzaakt door een mutatie in het gen <i>ERLIN2</i> (8p11.2), dat codeert voor het proteïne Erlin-2."},"pt":{"name":"Paraplegia espástica autossómica tipo 18","synonyms":["SPG18"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 18","synonyms":["SPG18"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 18","synonyms":["SPG18"]},"uk":{"name":"Аутосомна спастична параплегія, тип 18","synonyms":["SPG18"],"definition":"Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the <i>ERLIN2</i> gene (8p11.2) encoding the protein, Erlin-2."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫18型","synonyms":["SPG18"],"definition":"常染色体隐性遗传性痉挛性截瘫18型（SPG18）是一种罕见的、复杂的遗传性痉挛性截瘫，其主要临床表现为进行性痉挛性截瘫（出现在儿童早期），伴运动发育迟缓、重度智力障碍和关节挛缩。脑磁共振成像表现为胼胝体薄。SPG18是由编码Erlin-2蛋白的ERLIN2基因（8p11.2）突变引起。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 18","synonyms":["SPG18"]}},"xrefs":[{"source":"OMIM","code":"611225","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620512","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012639","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567628","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2749936","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4922","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320342,"name":"Pure or complex autosomal dominant spastic paraplegia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ERLIN2","name":"ER lipid raft associated 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21330303[PMID]","hgnc":"1356","ensembl":"ENSG00000147475","omim":"611605","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"16636240[PMID]_23109145[PMID]_21796390[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16636240[PMID]_23109145[PMID]_21796390[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-12","source":"20301682[PMID]_21330303[PMID]","terms":[{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012453","label":"Bilateral wrist flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100712","label":"Abnormal lumbar spine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005830","label":"Flexion contracture of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005997","label":"Restricted neck movement due to contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001583","label":"Rotary nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}