{"orpha":101005,"name":"Autosomal recessive spastic paraplegia type 25","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spastic paraplegia-disc herniation syndrome","SPG25"],"definition":"Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101005/","orphanet_url":"https://www.orpha.net/en/disease/detail/101005","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 25","synonyms":["SPG25","Syndrome autosomique récessive de paraplégie spastique-hernie discale"],"definition":"Type rare et complexe de paraplégie spastique héréditaire caractérisée par une paraplégie spastique apparaissant à l'âge adulte, associée à une douleur vertébrale irradiant vers les membres supérieurs ou inférieurs et liée à une hernie discale (avec spondylose mineure), ainsi qu'à une légère neuropathie sensorimotrice. Le phénotype SPG25 a été associé à un locus sur le chromosome 6q23-q24.1."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 25","synonyms":["SPG25","Spastische Paraplegie, autosomal-rezessive - Bandscheibenvorfall"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 25 (SPG25) ist eine seltene, komplexe Form der hereditären spastischen Paraplegien, welche durch eine im Erwachsenenalter auftretende spastische Paraplegie, und spinale Schmerzen charakterisiert ist. Letztere strahlen in die Extremitäten aus und sind mit Bandscheibenvorfällen (mit leichter Spondylose) sowie milder sensomotorischer Neuropathie vergesellschaftet. Die Ursache des SPG25-Phänotyps wurde auf Chromosom 6q23-q24.1 lokalisiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 25","synonyms":["Paraplejía espástica autosómica recesiva-hernia de disco","SPG25"],"definition":"Es un tipo poco frecuente y complejo de paraplejía espástica hereditaria caracterizado por paraplejía espástica de inicio en la edad adulta asociado a dolor espinal que irradia a las extremidades superiores o inferiores y que está relacionado con una hernia discal (con leve espondilosis), así como a neuropatía sensitivo-motora. El fenotipo de la enfermedad se ha mapeado en un locus del cromosoma 6q23-q24.1."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 25","synonyms":["Paraplegia spastica autosomica recessiva - ernia del disco","SPG25"],"definition":"La paraplegia spastica autosomica recessiva, tipo 25 (SPG25) è una forma rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica ad esordio nell'età adulta, associata a dolore spinale, che si irradia agli arti superiori o inferiori ed è secondario all'erniazione di un disco intervertebrale (con spondilosi lieve), e a neuropatia sensitivo-motoria lieve. Il fenotipo della SPG25 è stato mappato in un locus del cromosoma 6q23-q24.1."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 25","synonyms":["Autosomaal recessieve spastische paraplegie - hernia van tussenwervelschijf-syndroom","SPG25"],"definition":"Autosomaal recessieve spastische paraplegie type 25 (SPG25) is een zeldzaam, complex type van erfelijke spastische paraplegie dat gekarakteriseerd wordt door aanvang in de volwassenheid van spastische paraplegie, geassocieerd met pijn aan de ruggengraat die uitstraalt naar de bovenste of onderste ledematen en die gerelateerd is aan een hernia van een tussenwervelschijf (met kleinschalige spondylose), alsook milde sensomotorische neuropathie. Het fenotype van SPG25 werd gekoppeld aan een locus op chromosoom 6q23-q24.1."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 25","synonyms":["SPG25"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 25","synonyms":["Autosomalna recesywna paraplegia spastyczna - przepuklina dysku","SPG25"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 25","synonyms":["SPG25","Syndrom zahrnující autozomálně recesivní spastickou paraplegii a herniaci disku"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 25","synonyms":["Аутосомно-рецесивний синдром спастичної параплегії-грижі міжхребцевого диска","SPG25"],"definition":"Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫25型","synonyms":["常染色体隐性遗传性痉挛性截瘫-椎间盘突出综合征"],"definition":"常染色体隐性遗传性痉挛性截瘫25型(SPG25)是一种罕见的复合型遗传性痉挛性截瘫，以成人型痉挛性截瘫为特征，伴有上肢或下肢的脊痛，与椎间盘突出(伴有轻度脊椎病)以及轻度感觉运动性神经病有关。SPG25表型已定位在染色体6q23-q24.1上。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 25","synonyms":["SPG25","Otozomal çekinik spastik parapleji-disk herniasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"608220","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":"1990915145"},{"source":"MONDO","code":"0011992","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11992","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536861","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9582","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":"SPG25","name":"spastic paraplegia 25 (autosomal recessive, with disc herniation)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"25855","ensembl":null,"omim":null,"loci":["6q23-q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"12070243[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12070243[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-03","source":"12070243[PMID]","terms":[{"hpo":"HP:0008441","label":"Herniation of intervertebral nuclei","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100712","label":"Abnormal lumbar spine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008480","label":"Cervical spondylosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012513","label":"Upper limb pain","frequency":"Occasional (29-5%)","criteria":null}]}}