{"orpha":544254,"name":"SYNGAP1-related developmental and epileptic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SYNGAP1-related DEE"],"definition":"A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-544254/","orphanet_url":"https://www.orpha.net/en/disease/detail/544254","names":{"fr":{"name":"Encéphalopathie épileptique et développementale associée à SYNGAP1","definition":"Encéphalopathie épileptique et développementale rare d'origine génétique caractérisée par un retard de développement, une épilepsie généralisée à type de myoclonies des paupières avec absences et de crises myoclono-atoniques, une déficience intellectuelle et un trouble du spectre de l'autisme (TSA)."},"de":{"name":"SYNGAP1-assoziierte Entwicklungsverzögerung mit epileptischer Enzephalopathie","synonyms":["SYNGAP1-abhängige DEE"],"definition":"Eine genetisch bedingte neurologischen Entwicklungsstörungen mit Epilepsie (DEE), die durch Entwicklungsverzögerung, generalisierte Epilepsie, bestehend aus Lidmyoklonien mit Absencen und myoklonisch-atonischen Anfällen, Intelligenzminderung und Autismus-Spektrum-Störung (ASD) gekennzeichnet ist."},"es":{"name":"Encefalopatía epiléptica y del desarrollo asociada a SYNGAP1","synonyms":["DEE asociada a SYNGAP1"],"definition":"Es una encefalopatía epiléptica y del desarrollo (EED), de origen genético y poco frecuente, caracterizada por un retraso del desarrollo, epilepsia generalizada consistente en mioclonias de los párpados con ausencias y convulsiones mioclónicas-atónicas, discapacidad intelectual y trastorno del espectro autista (TEA)."},"it":{"name":"Encefalopatia epilettica e dello sviluppo correlata a SYNGAP1","definition":"Si tratta di un'encefalopatia epilettica e dello sviluppo (DEE) rara, di origine genetica, caratterizzata da ritardo dello sviluppo, epilessia generalizzata (mioclonia delle palpebre con assenze e crisi mioclonico-atoniche), disabilità intellettiva e disturbi dello spettro autistico (DSA)."},"nl":{"name":"SYNGAP1-gerelateerde ontwikkelingsachterstand en epileptische encefalopathie","synonyms":["SYNGAP1-gerelateerde DEE"],"definition":"Een zeldzame, genetische ontwikkelingsachterstand en epileptische encefalopathie (DEE), gekenmerkt door ontwikkelingsachterstand, gegeneraliseerde epilepsie bestaande uit myoclonie van oogleden met absences en myoclonisch-atonische insulten, intellectuele achterstand, en autismespectrumstoornis (ASS)."},"pt":{"name":"Encefalopatia epilética e desenvolvimento SYNGAP1-relacionada"},"pl":{"name":"Encefalopatia epileptyczna i rozwojowa związana z SYNGAP1","synonyms":["SYNGAP1-related DEE"]},"cs":{"name":"SYNGAP1-vázaná vývojová a epileptická encefalopatie","synonyms":["SYNGAP1-vázaná DEE"]},"uk":{"name":"Повязана з SYNGAP1 енцефалопатія розвитку та епілептична енцефалопатія","synonyms":["DEE, повязані з SYNGAP1"],"definition":"A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD)."},"zh":{"name":"SYNGAP1基因相关的发育和癫痫性脑病","synonyms":["SYNGAP1-related DEE"],"definition":"一种罕见的婴儿癫痫综合征，以发育迟缓或退行、智力障碍和癫痫为特征，可表现为睑肌阵挛伴失神、不典型和典型失神、肌阵挛性、失张力性、肌阵挛-失张力性或未分类的跌倒发作、强直-阵挛性癫痫发作或多由进食引发的反射性癫痫发作。部分患者眼睑肌阵挛演变为跌倒发作。其他常见的特征包括行为问题、高痛阈、肌张力低下、进食和睡眠问题、自闭症谱系障碍、共济失调或步态异常。"},"tr":{"name":"SYNGAP1-ilişkili gelişimsel ve epileptik ensefalopati","synonyms":["SYNGAP1-ilişkili DEE"]}},"xrefs":[{"source":"OMIM","code":"612621","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1830660574"},{"source":"MONDO","code":"0034099","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12960","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"34099","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680163","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":"SYNGAP1","name":"synaptic Ras GTPase activating protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30541864[PMID]","hgnc":"11497","ensembl":"ENSG00000197283","omim":"603384","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":57.0,"area":"Worldwide","status":"Validated","source":"30541864[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30541864[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-08-20","source":"30685520[PMID]_30541864[PMID]_30789692[PMID]","terms":[{"hpo":"HP:0010832","label":"Abnormality of pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100738","label":"Abnormal eating behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020208","label":"Eating-induced seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012703","label":"Abnormal subarachnoid space morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030810","label":"Abnormal tongue physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040080","label":"Anteverted ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011150","label":"Myoclonic absence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100259","label":"Postaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100023","label":"Recurrent hand flapping","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}