{"orpha":101009,"name":"Autosomal dominant spastic paraplegia type 29","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG29"],"definition":"A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101009/","orphanet_url":"https://www.orpha.net/en/disease/detail/101009","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 29","synonyms":["SPG29"],"definition":"La paraplégie spastique autosomique dominante type 29 (SPG29) est une forme complexe de paraplégie spastique héréditaire caractérisée par une paraplégie spastique se manifestant à l'adolescence, associée à des signes additionnels de surdité sensorielle due à une neuropathie auditive, et à des vomissements persistants dus à une hernie hiatale ou para-oesophagienne."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 29","synonyms":["SPG29"],"definition":"Eine komplexe Form der hereditären spastischen Paraplegie, die durch eine spastische Paraplegie gekennzeichnet ist, die sich in der Adoleszenz präsentiert, verbunden mit den zusätzlichen Manifestationen in Form einer sensorischen Hörstörung aufgrund einer auditorischen Neuropathie und anhaltendem Erbrechen infolge einer hiatalen oder paraösophagealen Hernie."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 29","synonyms":["SPG29"],"definition":"Es una forma compleja de paraplejía espástica hereditaria caracterizada por paraplejía espástica de presentación en la adolescencia asociada a las manifestaciones adicionales de afectación auditiva sensorial por neuropatía auditiva y vómitos persistentes por hernia hiatal o paraesofágica."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 29","synonyms":["SPG29"],"definition":"La paraplegia spastica autosomica dominante tipo 29 (SPG29) è una forma complessa di paraplegia spastica ereditaria; è caratterizzata da paraplegia spastica ad esordio nell'adolescenza associata ad altri segni clinici, come la sordità neurosensoriale, secondaria alla neuropatia uditiva, e il vomito persistente, dovuto all'ernia iatale o paraesofagea."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 29","synonyms":["SPG29"],"definition":"Een complexe vorm van erfelijke spastische paraplegie, gekarakteriseerd door een spastische paraplegie die zich voordoet in de adolescentie, geassocieerd met de bijkomende manifestaties sensorineuraal gehoorverlies door auditieve neuropathie en aanhoudend braken door een hiatale of para-oesofageale hernia."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 29"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 29","synonyms":["SPG29"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 29","synonyms":["SPG29"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 29","synonyms":["SPG29"],"definition":"A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia."},"zh":{"name":"常染色体显性遗传痉挛性截瘫29型","synonyms":["SPG29"],"definition":"常染色体隐性遗传性痉挛性截瘫29型是一种遗传性痉挛性截瘫的复杂形式，以青春期出现的痉挛性截瘫为特征，并伴有因听神经病变引起的感觉性听力障碍和因裂孔或食道旁疝导致的持续呕吐的额外表现"},"tr":{"name":"Otozomal dominant spastik parapleji tip 29","synonyms":["SPG29"]}},"xrefs":[{"source":"OMIM","code":"609727","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1125341564"},{"source":"MONDO","code":"0012334","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536863","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857855","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9729","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100979,"name":"Autosomal dominant complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG29","name":"spastic paraplegia 29 (autosomal dominant)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16130112[PMID]","hgnc":"30161","ensembl":null,"omim":null,"loci":["1p31.1-p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"16130112[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16130112[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-03","source":"16130112[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010936","label":"Abnormality of the lower urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002034","label":"Abnormality of the rectum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}