{"orpha":101006,"name":"Autosomal recessive spastic paraplegia type 26","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GM2 synthase deficiency","SPG26"],"definition":"Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the <i>B4GALNT1</i> gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101006/","orphanet_url":"https://www.orpha.net/en/disease/detail/101006","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 26","synonyms":["Déficit en GM2 synthase","SPG26"],"definition":"Type rare et complexe de paraplégie spastique héréditaire, caractérisée par l'apparition dans l'enfance ou l'adolescence (entre l'âge de 2 et 19&nbsp;ans) d'une paraplégie spastique progressive associée principalement à des troubles cognitifs légers à modérés et à un retard de développement, à une ataxie cérébelleuse, à une dysarthrie et à une neuropathie périphérique. Les manifestations moins fréquemment rapportées comprennent des anomalies squelettiques (pied creux, scoliose), une dyskinésie, une dystonie, une cataracte, des signes d'atteinte cérébelleuse (dysfonctionnement de mouvements saccadiques, nystagmus, dysmétrie), des troubles de la vessie et des troubles du comportement. La SPG26 est causée par des mutations du gène <i>B4GALNT1</i> (12q13.3), codant pour la Beta-1, 4 N- acétylgalactosaminyltransférase&nbsp;1."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 26","synonyms":["GM2-Synthase-Mangel","SPG26"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 26 (SPG26) ist eine seltene, komplexe Form der hereditären spastischen Paraplegie, die durch das Auftreten einer progressiven spastischen Paraplegie im Kindes- oder Jugendalter (im Alter von 2 bis 19 Jahren) gekennzeichnet ist, die hauptsächlich mit einer leichten bis mittelschweren kognitiven Beeinträchtigung und Entwicklungsverzögerung, zerebellärer Ataxie, Dysarthrie und peripherer Neuropathie einhergeht."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 26","synonyms":["Deficiencia de GM2 sintasa","SPG26"],"definition":"Es una forma poco frecuente y compleja de paraplejía espástica hereditaria caracterizada por un inicio en la infancia/adolescencia (2-19 años de edad) de paraplejía espástica progresiva asociada principalmente a alteraciones cognitivas y retraso en el desarrollo de leves a moderados, ataxia cerebelosa, disartria, y neuropatía periférica. Algunos hallazgos descritos con menor frecuencia incluyen anomalías esqueléticas (tales como pie cavo, escoliosis), discinesia, distonía, cataratas, signos cerebelosos (tales como, disfunción sacádica, nistagmo, dismetría), disfunción vesical, y trastornos de conducta. La enfermedad está causada por mutaciones en el gen <i>B4GALNT1</i> (12q13.3), que codifica la beta-1, 4 N-acetilgalactosamina transferasa 1."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 26","synonyms":["Deficit di GM2 sintasi","SPG26"],"definition":"La paraplegia spastica autosomica recessiva tipo 26 (SPG26) è una forma rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica progressiva con esordio nell'infanzia/adolescenza (età 2-19 anni), associata prevalentemente a deficit cognitivo lieve-moderato, ritardo dello sviluppo, atassia cerebellare, disartria e neuropatia periferica. Meno comunemente sono presenti anomalie scheletriche (piede cavo, scoliosi), discinesia, distonia, cataratta, segni cerebellari (disfunzione saccadica, nistagmo, dismetria), disfunzioni vescicali e problemi comportamentali. La SPG26 è causata dalle mutazioni nel gene B4GALNT1 (12q13.3), che codifica Beta-1, 4 N-acetilgalattosaminiltransferasi 1."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 26","synonyms":["GM2-synthasedeficiëntie","SPG26"],"definition":"Autosomaal recessieve spastische paraplegie type 26 (SPG26) is een zeldzaam, complex type van erfelijke spastische paraplegie dat gekarakteriseerd wordt door aanvang in de kindertijd/adolescentie (leeftijd van 2-19 jaar) van progressieve spastische paraplegie, voornamelijk geassocieerd met milde tot matige cognitieve beperkingen en ontwikkelingsachterstand, cerebellaire ataxie, dysartrie, en perifere neuropathie. Minder vaak gerapporteerde manifestaties zijn onder meer afwijkingen van het skelet (i.e. pes cavus (holvoet), scoliose), dyskinesie, dystonie, cataract, cerebellaire tekenen (i.e. disfunctie van de saccades (oogsprongen), nystagmus, dysmetrie), blaasstoornissen, en gedragsproblemen. SPG26 wordt veroorzaakt door mutaties in het gen <i>B4GALNT1</i> (12q13.3), dat codeert voor bèta-1,4-N-acetylgalactosaminyltransferase 1."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 26","synonyms":["SPG26"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 26","synonyms":["Niedobór syntazy GM2","SPG26"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 26","synonyms":["Deficit GM2 syntázy","SPG26"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 26","synonyms":["Дефіцит GM2-синтази","SPG26"],"definition":"Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the <i>B4GALNT1</i> gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫26型","synonyms":["神经节苷脂酶缺乏"],"definition":"常染色体隐性遗传性痉挛性截瘫26型(SPG26)是一种罕见的复合型遗传性痉挛性截瘫，以儿童/青春期(2~19岁)开始进行性痉挛性截瘫为特征，主要伴有轻、中度认知障碍和发育迟缓、小脑性共济失调、构音障碍和周围神经病变。少见的临床表现包括骨骼异常(如下腔静脉、脊柱侧凸)、运动障碍、肌张力障碍、白内障、小脑体征(如眼球跳动功能障碍、眼球震颤、运动障碍)、膀胱功能障碍和行为问题。SPG26是由编码β-1，4N-乙酰半乳糖胺转移酶1的B4GALNT1基因(12q13.3)突变引起的。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 26","synonyms":["SPG26","GM2 sentaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"609195","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":"index","validated":true,"icd11_uri":"1151541328"},{"source":"MONDO","code":"0012213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536862","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836632","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9587","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":"B4GALNT1","name":"beta-1,4-N-acetyl-galactosaminyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23746551[PMID]","hgnc":"4117","ensembl":"ENSG00000135454","omim":"601873","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"24103911[PMID]_23746551[PMID]_24283893[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24103911[PMID]_23746551[PMID]_24283893[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-26","source":"23746551[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006938","label":"Impaired vibration sensation at ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very rare (<4-1%)","criteria":null}]}}