{"orpha":100997,"name":"X-linked spastic paraplegia type 16","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG16"],"definition":"A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100997/","orphanet_url":"https://www.orpha.net/en/disease/detail/100997","names":{"fr":{"name":"Paraplégie spastique liée à l'X type 16","synonyms":["SPG16"],"definition":"Paraplégie spastique héréditaire complexe caractérisée par un retard de développement moteur, une spasticité et une incapacité à marcher, progressant vers une quadriplégie, une aphasie motrice et un dysfonctionnement intestinal et urinaire. Les patients présentent aussi des troubles de la vision et une légère déficience intellectuelle. La maladie ne touche que les hommes"},"de":{"name":"Spastische Paraplegie, X-chromosomale, Typ 16","synonyms":["SPG16"]},"es":{"name":"Paraplejía espástica ligada al cromosoma X tipo 16","definition":"Es una paraplejía espástica hereditaria compleja caracterizada por retraso del desarrollo motor, espasticidad e incapacidad para deambular, que evoluciona posteriormente a tetraplejia, afasia motora y disfunción intestinal y urinaria. Los pacientes también presentan problemas de visión y leve discapacidad intelectual. La enfermedad afecta únicamente a los varones."},"it":{"name":"Paraplegia spastica legata all'X tipo 16","synonyms":["SPG16"],"definition":"È una paraplegia spastica complessa ereditaria, caratterizzata da ritardo dello sviluppo motorio, spasticità e incapacità di deambulare, che successivamente evolve verso la quadriplegia, l'afasia motoria e la disfunzione intestinale e vescicale. I pazienti presentano anche problemi di vista e una lieve disabilità intellettiva. La malattia colpisce solo i maschi."},"nl":{"name":"X-gebonden spastische paraplegie type 16","synonyms":["SPG16"],"definition":"Een complexe, erfelijke, spastische paraplegie die gekarakteriseerd wordt door motorische ontwikkelingsachterstand, spasticiteit, en onvermogen om te stappen met later progressie tot quadriplegie, motorische afasie, en darm- en blaasdisfunctie. Patiënten vertonen ook visuele problemen en milde intellectuele beperking. De ziekte treft enkel mannen."},"pt":{"name":"Paraplegia espástica ligada ao X tipo 16","synonyms":["SPG16"]},"pl":{"name":"Paraplegia spastyczna typu 16 sprzężona z chromosomem X","synonyms":["SPG16"]},"cs":{"name":"X-vázaná spastická paraplegie, typ 16","synonyms":["SPG16"]},"uk":{"name":"Х-зчеплена спастична параплегія, тип 16","synonyms":["SPG16"],"definition":"A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males."},"zh":{"name":"X连锁遗传痉挛性截瘫16型","synonyms":["SPG16"],"definition":"X连锁痉挛性截瘫16型是一种复杂的遗传性痉挛性截瘫，以运动发育迟缓、痉挛和不能行走为特征，后来发展为四肢瘫痪、运动性失语、肠道和膀胱功能障碍。患者还会出现视力问题和轻度智力残疾。这种疾病只影响男性。"},"tr":{"name":"X'e bağlı spastik parapleji tip 16","synonyms":["SPG16"]}},"xrefs":[{"source":"OMIM","code":"300266","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1654199011"},{"source":"MONDO","code":"0010287","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536643","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846046","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9585","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320350,"name":"Pure or complex X-linked spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG16","name":"spastic paraplegia 16 (complicated, X-linked recessive)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"14260","ensembl":null,"omim":null,"loci":["Xq11.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"9254866[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9254866[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-08","source":"9254866[PMID]","terms":[{"hpo":"HP:0001844","label":"Abnormal hallux morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012719","label":"Functional abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002427","label":"Motor aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null}]}}