{"orpha":101003,"name":"Autosomal recessive spastic paraplegia type 23","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lison syndrome","SPG23"],"definition":"Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101003/","orphanet_url":"https://www.orpha.net/en/disease/detail/101003","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 23","synonyms":["SPG23","Syndrome de Lison","Syndrome de paraparésie spastique-vitiligo-cheveux gris prématurés-faciès particulier"],"definition":"Type rare et complexe de paraplégie spastique héréditaire caractérisée par l'apparition dans l'enfance d'une paraplégie spastique progressive, associée à une neuropathie périphérique, à des anomalies de la pigmentation de la peau (vitiligo, hyperpigmentation, lentigines diffuses), à un grisonnement prématuré des cheveux et à une dysmorphie caractéristique (visage fin aux traits marqués). Le phénotype SPG23 a été associé à un locus sur le chromosome 1q24-q32."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 23","synonyms":["Lison-Syndrom","SPG23"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 23 (SPG23) gehört zu den seltenen, komplexen Formen der hereditären spastischen Paraplegien. Sie manifestiert sich in der Kindheit durch eine progrediente spastische Paraplegie verbunden mit peripherer Neuropathie, Pigmentstörungen (Vitiligo, Hyperpigmentierung, diffuse Lentigo), frühzeitiges Ergrauen der Haare und eine charakteristische Facies (schlank mit markanten Gesichtszügen). Die Ursache des SPG23-Phänotyps wurde auf Chromosom 1q24-q32 lokalisiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 23","synonyms":["SPG23","Síndrome de Lison"],"definition":"Es una forma poco frecuente y compleja de paraplejía espástica hereditaria. Se presenta en la infancia con paraplejía espástica progresiva asociada a neuropatía periférica, alteraciones de la pigmentación cutánea (tales como vitíligo, hiperpigmentación, léntigos difusos), encanecimiento prematuro del cabello, y una facies característica (es decir, delgada con rasgos pronunciados). El fenotipo de la enfermedad se ha mapeado en un locus del cromosoma 1q24-q32."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 23","synonyms":["SPG23","Sindrome di Lison"],"definition":"La paraplegia spastica autosomica recessiva, tipo 23 (SPG23) è una forma rara e complessa di paraplegia spastica ereditaria, che esordisce nell'infanzia con paraplegia spastica progressiva associata a neuropatia periferica, anomalie della pigmentazione cutanea (vitiligine, iperpigmentazione, lentiggini diffuse), incanutimento precoce dei capelli e dismorfismi caratteristici (lineamenti del volto sottili e ''affilati''). Il fenotipo della SPG23 è stato mappato su un locus del cromosoma 1q24-q32."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 23","synonyms":["SPG23","Spastische paraparese - vitiligo - vroegtijdige vergrijzing - kenmerkend gelaat","Syndroom van Lison"],"definition":"Autosomaal recessieve spastische paraplegie type 23 (SPG23) is een zeldzaam, complex type van erfelijke spastische paraplegie dat zich voordoet in de kindertijd met progressieve spastische paraplegie, geassocieerd met perifere neuropathie, afwijkende huidpigmentatie (i.e. vitiligo, hyperpigmentatie, diffuse lentigines), vroegtijdige vergrijzing van het haar, en een karakteristiek gelaat (i.e. dun met scherpe kenmerken). Het fenotype van SPG23 werd gekoppeld aan een locus op chromosoom 1q24-q32."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 23","synonyms":["SPG23","Síndrome Lison"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 23","synonyms":["Parapareza spastyczna - bielactwo nabyte - przedwczesne siwienie - charakterystyczna twarz","SPG23","Zespół Lisona"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 23","synonyms":["SPG23","Lisonův syndrom","Syndrom zahrnující spastickou paraparézu, vitiligo, předčasné šednutí a charakteristické facies"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 23","synonyms":["Синдром Лісона","Спастичний парапарез-вітіліго-передчасне посивіння-характерний фаціальний синдром","SPG23"],"definition":"Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫23型","synonyms":["痉挛性截瘫-白癜风-须发早白-特征面容综合征"],"definition":"常染色体隐性遗传性痉挛性截瘫23型(SPG23)是一种罕见的复合型遗传性痉挛性截瘫，在儿童期表现为进行性痉挛性截瘫，伴有周围神经病变、皮肤色素异常(如白癜风、色素沉着、弥漫性雀斑)、须发早白和特征性面相(即瘦而尖的特征)。SPG23表型已定位在染色体1q24-q32上。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 23","synonyms":["SPG23","Lison sendromu","Spastik paraparezi-vitiligo-erken grileşme-karakteristik fasies sendromu"]}},"xrefs":[{"source":"OMIM","code":"270750","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":"1595722974"},{"source":"MONDO","code":"0010046","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536859","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796019","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"336","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":"DSTYK","name":"dual serine/threonine and tyrosine protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28157540[PMID]","hgnc":"29043","ensembl":"ENSG00000133059","omim":"612666","loci":["1q32.1"]},{"symbol":"SPG23","name":"spastic paraplegia 23 (autosomal recessive)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"21340","ensembl":null,"omim":null,"loci":["1q24-q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"7294071[PMID]_6264350[PMID]_6886718[PMID]_4061404[PMID]_12868479[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7294071[PMID]_6264350[PMID]_6886718[PMID]_4061404[PMID]_12868479[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"12868479[PMID]_28157540[PMID]","terms":[{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012701","label":"Bowel urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001003","label":"Multiple lentigines","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002218","label":"Silver-gray hair","frequency":"Occasional (29-5%)","criteria":null}]}}