{"orpha":163985,"name":"Hyperekplexia-epilepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163985/","orphanet_url":"https://www.orpha.net/en/disease/detail/163985","names":{"fr":{"name":"Syndrome d'hyperexplexie-épilepsie","definition":"Déficience intellectuelle syndromique rare, liée à l'X, caractérisée par une hypertonie néonatale évoluant vers une hypotonie et un réflexe de sursaut exagéré (à des stimuli visuels, auditifs ou tactiles soudains), suivis de convulsion myocloniques ou toniques à début précoce, fréquemment réfractaires. Encéphalopathie épileptique progressive, déficience intellectuelle et arrêt, puis déclin, du développement psychomoteur peuvent être associés."},"de":{"name":"Hyperekplexie - Epilepsie","definition":"Eine X-chromosomale syndromale Form der Intelligenzminderung, die durch neonatale Hypertonie gekennzeichnet ist, die sich zu Hypotonie und einer übertriebenen Schreckreaktion (auf plötzliche visuelle, auditive oder taktile Reize) entwickelt, gefolgt von der Entwicklung früh einsetzender, häufig refraktärer tonischer oder myoklonischer Anfälle. Progressive epileptische Enzephalopathie, Intelligenzminderung und psychomotorischer Entwicklungsstillstand mit subsekutiver Verschlechterung können zusätzlich auftreten."},"es":{"name":"Síndrome de hiperekplexia-epilepsia","synonyms":["Síndrome de hiperecplexia-epilepsia","Síndrome de hiperplexia-epilepsia"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X poco frecuente caracterizada por hipertonía neonatal que evoluciona a hipotonía y una respuesta exagerada de sobresalto (ante estímulos visuales, auditivos o táctiles repentinos), seguido por el desarrollo de crisis comiciales de inicio temprano tónicas o mioclónicas, con frecuencia refractarias. Adicionalmente, puede asociar encefalopatía epiléptica progresiva, discapacidad intelectual y detención del desarrollo psicomotor, con el subsecuente deterioro."},"it":{"name":"Sindrome da iperecplessia ed epilessia","definition":"È una malattia rara da disabilità intellettiva sindromica legata all'X, caratterizzata da ipertonia neonatale che evolve nell'ipotonia e nei sussulti anomali (in risposta agli stimoli visivi, uditivi o tattili improvvisi), seguiti da crisi toniche o miocloniche ad esordio precoce, spesso refrattarie. Può associarsi ad encefalopatia epilettica progressiva, disabilità intellettiva e arresto dello sviluppo motorio, con conseguente declino."},"nl":{"name":"Hyperekplexie - epilepsie-syndroom","definition":"Een zeldzame, X-gebonden, syndromale intellectuele beperking gekarakteriseerd door neonatale hypertonie die evolueert tot hypotonie en een overdreven schrikrespons (op plotse visuele, auditieve of tactiele stimuli), gevolgd door de ontwikkeling van vroeg aanvangende, frequent refractaire, tonische of myoclonische insulten. Progressieve epileptische encefalopathie, intellectuele achterstand, en arrest van de psychomotorische ontwikkeling met daaropvolgende achteruitgang, kunnen bijkomend geassocieerd zijn."},"pt":{"name":"Síndrome de hiperecplexia-epilepsia"},"pl":{"name":"Hiperekpleksja - padaczka"},"cs":{"name":"Syndrom zahrnující hyperekplexii a epilepsii"},"uk":{"name":"Синдром гіперексплексії-епілепсії","definition":"A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated."},"zh":{"name":"早期婴儿型癫痫性脑病8型"},"tr":{"name":"Hiperekspleksi-epilepsi sendromu"}},"xrefs":[{"source":"OMIM","code":"300607","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010375","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191643","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":306773,"name":"Hyperekplexia","classifications":[181]},{"orpha":183521,"name":"Rare genetic movement disorder","classifications":[156]},{"orpha":2076,"name":"X-linked intellectual disability-epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ARHGEF9","name":"Cdc42 guanine nucleotide exchange factor 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301437[PMID]","hgnc":"14561","ensembl":"ENSG00000131089","omim":"300429","loci":["Xq11.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"30078784[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30078784[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-12","source":"23153204[PMID]_21633362[PMID]_15215304[PMID]","terms":[{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012018","label":"EEG with temporal focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002267","label":"Exaggerated startle response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007333","label":"Hypoplasia of the frontal lobes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}