{"orpha":306511,"name":"Autosomal recessive spastic paraplegia type 48","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG48"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306511/","orphanet_url":"https://www.orpha.net/en/disease/detail/306511","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 48","synonyms":["SPG48"],"definition":"Forme rare, pure ou complexe, de paraplégie spastique héréditaire, généralement caractérisée par le phénotype pur d'une paraplégie spastique lentement progressive associée à une incontinence urinaire, se manifestant au milieu ou à la fin de l'âge adulte. Le phénotype complexe, associé par ailleurs à des troubles cognitifs, une polyneuropathie sensorimotrice, une ataxie, un parkinsonisme et une dystonie, ainsi qu'à un corps calleux fin et à des lésions de la substance blanche (visibles à l'imagerie par résonance magnétique du cerveau et de la colonne vertébrale), a également été rapporté."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 48","synonyms":["SPG48"],"definition":"Eine reine oder komplexe Form der hereditären spastischen Paraplegie, die in der Regel durch einen reinen Phänotyp einer langsam progredienten spastischen Paraplegie in Verbindung mit Harninkontinenz mit Beginn im mittleren bis späten Erwachsenenalter gekennzeichnet ist. Ein komplexer Phänotyp mit zusätzlichen Befunden wie kognitiver Beeinträchtigung, sensomotorischer Polyneuropathie, Ataxie, Parkinsonismus und Dystonie sowie dünnem Corpus callosum und Läsionen der weißen Substanz (sichtbar in Magnetresonanztomographien des Gehirns und der Wirbelsäule) wurde ebenfalls berichtet."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 48","synonyms":["SPG48"],"definition":"Es una forma poco frecuente, pura o compleja, de paraplejía espástica hereditaria caracterizada generalmente por un fenotipo puro de paraplejía espástica lentamente progresiva asociada a incontinencia urinaria de inicio a mediados o finales de la edad adulta. También se ha descrito un fenotipo complejo, con hallazgos adicionales de afectación cognitiva, polineuropatía sensitivomotora, ataxia, parkinsonismo y distonía, así como adelgazamiento del cuerpo calloso y lesiones de la sustancia blanca (observadas en imágenes de resonancia magnética cerebral y de la columna vertebral)."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 48","synonyms":["SPG48"],"definition":"Si tratta di una forma rara, pura o complessa, di paraplegia spastica ereditaria, in genere caratterizzata da un fenotipo puro di paraplegia spastica a progressione lenta associata ad incontinenza urinaria, che esordisce nella mezza età o nella tarda età adulta. È stato descritto anche un fenotipo complesso, caratterizzato da deficit cognitivo, polineuropatia sensitivo-motoria, atassia, parkinsonismo, distonia e lesioni della sostanza bianca (apprezzabili alla risonanza magnetica del cervello e della colonna)."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 48","synonyms":["SPG48"],"definition":"Een zeldzame, zuivere of complexe vorm van hereditaire spastische paraplegie, meestal gekenmerkt door een zuiver fenotype van een traag progressieve spastische paraplegie geassocieerd met urinaire incontinentie met een aanvang halverwege tot in de late volwassenheid. Een complex fenotype, met als bijkomende bevindingen cognitieve functiestoornis, sensomotorische polyneuropathie, ataxie, parkinsonisme, en dystonie, alsook dun corpus callosum en laesies van witte stof (waargenomen bij beeldvorming van hersenen en wervelkolom met magnetische resonantie), werd ook reeds gerapporteerd."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 48","synonyms":["SPG48"],"definition":"Forma rara, pura ou complexa de paraplegia espástica hereditária geralmente caracterizada por um fenótipo puro de paraplegia espástica lentamente progressiva associada à incontinência urinária com início no meio da idade adulta tardia. Um fenótipo complexo também foi relatado, com achados adicionais de compromisso cognitivo, polineuropatia sensório-motora, ataxia, parkinsonismo e distonia, corpo caloso fino e lesões da substância branca (observadas na ressonância magnética do cérebro e da coluna vertebral)."},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 48","synonyms":["SPG48"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 48","synonyms":["SPG48"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, типу 48","synonyms":["SPG48"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫48型","synonyms":["痉挛性截瘫48型"],"definition":"常染色体隐性遗传痉挛性截瘫48型是遗传性痉挛性截瘫的一种形式，常表现为缓慢进行性痉挛性截瘫伴尿失禁，起病于成年中后期。表型复杂，报道有认知障碍，感觉运动性多发性神经病，共济失调和帕金森综合征，及薄胼胝体和白质病变（磁共振所见）。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 48","synonyms":["SPG48"]}},"xrefs":[{"source":"OMIM","code":"613647","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,"icd11_uri":"null"},{"source":"MONDO","code":"0013342","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150901","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68366,"name":"Lysosomal disease","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AP5Z1","name":"adaptor related protein complex 5 subunit zeta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20613862[PMID]","hgnc":"22197","ensembl":"ENSG00000242802","omim":"613653","loci":["7p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"20613862[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-08","source":"20613862[PMID]_24833714[PMID]_26085577[PMID]","terms":[{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","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:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null}]}}