{"orpha":401805,"name":"Autosomal recessive spastic paraplegia type 63","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG63"],"definition":"Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the <i>AMPD2</i> gene (1p13.3) encoding AMP deaminase 2.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401805/","orphanet_url":"https://www.orpha.net/en/disease/detail/401805","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 63","synonyms":["SPG63"],"definition":"La paraplégie spastique autosomique récessive type&nbsp;63 est une forme extrêmement rare et complexe de paraplégie spastique héréditaire caractérisée par l'apparition, pendant la petite enfance, d'une paraplégie spastique (se manifestant par un retard de la marche et une démarche dite «&nbsp;en ciseaux&nbsp;») associée à une petite taille et à des facultés intellectuelles normales. L'imagerie cérébrale met en évidence des modifications de la substance blanche profonde périventriculaire dans le corps calleux. La maladie est due à une mutation homozygote du gène <i>AMPD2</i> (1p13.3) codant pour l'AMP désaminase&nbsp;2."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 63","synonyms":["SPG63"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 63 (SPG63) ist eine sehr seltene, komplexe Form der hereditären spastischen Paraplegie, die durch spastische Paraplegie vom Kleinkindalter an (mit verzögerter Gehfähigkeit und Scherengang) gekennzeichnet ist. Zusätzlich liegt ein Kleinwuchs vor, wobei keine kognitiven Einschränkungen auftreten. In der Bildgebung zeigen sich periventrikuläre, tiefliegende Veränderungen der weißen Substanz im Corpus Callosum. SPG63 entsteht durch eine homozygote Mutation im <i>AMPD2</i>-Gen (1p13.3), welches die AMP-Deaminase 2 kodiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 63","synonyms":["SPG63"],"definition":"Es una forma extremadamente infrecuente y compleja de paraplejía espástica hereditaria caracterizada por paraplejía espástica de inicio en la lactancia (presentan un retraso en la adquisición de la marcha y en tijera) asociada a talla baja y capacidad intelectual normal. Las neuroimágenes cerebrales permiten detectar cambios profundos en la sustancia blanca periventricular del cuerpo calloso. La enfermedad está causada por una mutación en homocigosis en el gen <i>AMPD2</i> (1p13.3) que codifica la AMP desaminasa 2."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 63","synonyms":["SPG63"],"definition":"La paraplegia spastica autosomica recessiva tipo 63 (SPG63) è una forma molto rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica ad esordio infantile (con ritardo della deambulazione e andatura ''a forbice'') associata a bassa statura e sviluppo cognitivo normale. Le immagini diagnostiche del cervello mostrano alterazioni nella sostanza bianca periventricolare profonda nel corpo calloso. La SPG63 è causata da una mutazione omozigote nel gene AMPD2 (1p13.3) che codifica l'AMP deaminasi 2."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 63","synonyms":["SPG63"],"definition":"Autosomaal recessieve spastische paraplegie type 63 (SPG63) is een uiterst zeldzame en complexe vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de zuigelingentijd van spastische paraplegie (die zich voordoet met uitgesteld lopen en een schaargang), geassocieerd met een kleine gestalte en normale cognitie. Beeldvorming van de hersenen toont veranderingen in de periventriculaire diepe witte stof in het corpus callosum. SPG63 wordt veroorzaakt door een homozygote mutatie in het gen <i>AMPD2</i> (1p13.3), dat codeert voor AMP-deaminase 2."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 63"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 63","synonyms":["SPG63"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 63","synonyms":["SPG63"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 63","synonyms":["SPG63"],"definition":"Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the <i>AMPD2</i> gene (1p13.3) encoding AMP deaminase 2."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫63型","synonyms":["SPG63"],"definition":"常染色体隐性遗传性痉挛性截瘫63型(SPG63)是一种极其罕见和复杂的遗传性痉挛性截瘫，其特征是在婴儿期起病(表现为行走延迟和剪刀步态)，并伴有身高矮小和正常认知。脑部影像显示胼胝体脑室周围深部白质改变。SPG63是由编码AMP脱氨酶2的AMPD2基因(1p13.3)的纯合子突变引起的。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 63","synonyms":["SPG63"]}},"xrefs":[{"source":"OMIM","code":"615686","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":"0014305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810295","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17658","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]}],"children":[],"genes":[{"symbol":"AMPD2","name":"adenosine monophosphate deaminase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"469","ensembl":"ENSG00000116337","omim":"102771","loci":["1p13.3"]}],"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":"24482476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24482476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-06","source":"24482476[PMID]","terms":[{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012407","label":"Scissor gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Occasional (29-5%)","criteria":null}]}}