{"orpha":599373,"name":"STXBP1-related developmental and epileptic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["STXBP1-related encephalopathy"],"definition":"A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-599373/","orphanet_url":"https://www.orpha.net/en/disease/detail/599373","names":{"fr":{"name":"Encéphalopathie développementale et épileptique associée à STXBP1","synonyms":["Encéphalopathie liée à STXBP1"],"definition":"Maladie neurologique rare d'origine génétique caractérisée par un spectre phénotypique comprenant une déficience intellectuelle sévère, un retard de développement et, dans la majorité des cas, une épilepsie à début précoce. Les spasmes épileptiques sont le type de convulsions le plus fréquent, bien que le spectre de crises épileptiques rapportées soit large. Les troubles moteurs comprennent ataxie, hypotonie, dystonie, tremblements, spasticité et dyskinésie. Certains patients peuvent aussi présenter des troubles du spectre de l'autisme/des troubles de type autistique. Les patients plus âgés présentent des signes de la maladie de Parkinson, dont des tremblements, une bradykinésie et un antécolis."},"de":{"name":"STXBP1-assoziierte entwicklungsbedingte und epileptische Enzephalopathie","synonyms":["STXBP1-DEE","STXBP1-assoziierte Enzephalopathie"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die durch ein phänotypisches Spektrum gekennzeichnet ist, das eine schwere Intelligenzminderung, Entwicklungsverzögerung und in den meisten Fällen eine früh einsetzende Epilepsie umfasst. Die häufigsten Anfälle sind epileptische Krämpfe, aber es wurde über ein breites Spektrum von Anfallsformen berichtet. Zu den Bewegungsstörungen gehören Ataxie, Hypotonie, Dystonie, Tremor, Spastik und Dyskinesie. Bei einigen Patienten können auch autismusähnliche Symptome auftreten. Bei älteren Patienten wurden Anzeichen von Parkinsonismus berichtet, einschließlich Tremor, Bradykinesie und Antecollis."},"es":{"name":"Encefalopatía epiléptica y del desarrollo asociada al gen STXBP1","synonyms":["Encefalopatía asociada al gen STXBP1"],"definition":"Es un trastorno neurológico genético poco frecuente caracterizado por un espectro fenotípico que comprende discapacidad intelectual grave, retraso del desarrollo y, en la mayoría de los casos, epilepsia de aparición temprana. El tipo de crisis más frecuente son los espasmos epilépticos, pero se ha descrito un amplio espectro de tipos de crisis. Los trastornos motores incluyen ataxia, hipotonía, distonía, temblor, espasticidad y discinesia. Algunos pacientes también pueden presentar rasgos del espectro autista. Se ha descrito que los pacientes de mayor edad muestran signos de parkinsonismo, como temblor, bradicinesia y antecolitis."},"it":{"name":"Encefalopatia epilettica e dello sviluppo correlata a STXBP1","synonyms":["Encefalopatia correlata a STXBP1"]},"nl":{"name":"STXBP1-gerelateerde ontwikkelingsachterstand en epileptische encefalopathie","synonyms":["STXBP1-gerelateerde encefalopathie","STXBP1-gerelateerde DEE"],"definition":"Een zeldzame, genetische neurologische aandoening, gekenmerkt door een fenotypisch spectrum bestaande uit ernstige intellectuele achterstand, ontwikkelingsachterstand, en, in de meerderheid van de gevallen, vroeg optredende epilepsie. Het meest frequente type van insulten is epileptische spasmen, maar er werd reeds een breed spectrum van types van insulten gerapporteerd. Motorische stoornissen zijn onder meer ataxie, hypotonie, dystonie, tremor, spasticiteit, en dyskinesie. Sommige patiënten kunnen zich ook presenteren met autisme/autistisch gelijkende kenmerken. Er werd gemeld dat oudere patiënten verschijnselen vertonen van parkinsonisme, waaronder tremor, bradykinesie en antecollis."},"pt":{"name":"Encefalopatia STXBP1-relacionada","definition":"Doença neurológica genética rara caracterizada por um espectro fenotípico que engloba grave perturbação do desenvolvimento intelectual e, na maioria dos casos, epilepsia de início precoce. O tipo de crise mais frequente ocorre sob a forma de espasmos mas foi relatado um amplo espectro de crises. Os distúrbios motores incluem ataxia, hipotonia, distonia, tremor, espasticidade e discinesia. Alguns doentes podem apresentar características autistas/semelhantes ao autismo. Foi relatado que os doentes mais idosos apresentavam sinais de parkinsonismo, incluindo tremor, bradicinesia e antecollis."},"pl":{"name":"Encefalopatia związana z STXBP1","synonyms":["STXBP1-related encephalopathy"],"definition":"Rzadkie zaburzenie neurologiczne o podłożu genetycznym, które charakteryzuje się spektrum fenotypowym obejmującym ciężką niepełnosprawność intelektualną, opóźnienie rozwoju i, w większości przypadków, padaczkę o wczesnym początku. Najczęstszym typem napadów padaczkowych są napady zgięciowe, ale opisano szerokie spektrum ich rodzajów. Zaburzenia ruchowe obejmują ataksję, hipotonię, dystonię, drżenie, spastyczność i dyskinezy. U niektórych pacjentów występują objawy ze spektrum autyzmu. U starszych wiekiem pacjentów mogą wystąpić objawy parkinsonizmu, w tym drżenie, spowolnienie ruchowe i antecollis (opadania głowy i szyi)."},"cs":{"name":"Encefalopatie související s STXBP1","synonyms":["STXBP1-related encephalopathy"]},"uk":{"name":"Енцефалопатія, повязана з STXBP1","definition":"A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis."},"zh":{"name":"STXBP1-related encephalopathy"},"tr":{"name":"STXBP1-related encephalopathy"}},"xrefs":[{"source":"OMIM","code":"612164","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012812","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681600","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"STXBP1","name":"syntaxin binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32643187[PMID]","hgnc":"11444","ensembl":"ENSG00000136854","omim":"602926","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0885,"area":"Denmark","status":"Validated","source":"26865513[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":282.0,"area":"Worldwide","status":"Validated","source":"32643187[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-01-17","source":"35190816[PMID]","terms":[{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011203","label":"EEG with abnormally slow frequencies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very rare (<4-1%)","criteria":null}]}}