{"orpha":86906,"name":"Gelastic seizures with hypothalamic hamartoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GS-HH","Hypothalamic hamartoma with gelastic seizures"],"definition":"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86906/","orphanet_url":"https://www.orpha.net/en/disease/detail/86906","names":{"fr":{"name":"Crises gélastiques avec hamartome hypothalamique","synonyms":["GS-HH","Hamartomes hypothalamiques avec épilepsie gélastique"],"definition":"Malformation cérébrale rare associée à une épilepsie caractérisée par des crises épileptiques gélastiques (crises de rire involontaires) ou dacrystiques (crises de pleurs involontaires) dues à une anomalie non néoplasique du développement, à savoir des hamartomes hypothalamiques. Chez de nombreux patients, les crises épileptiques évoluent vers d'autres types de crises, dont des crises épileptiques focales et généralisées, avec un déclin cognitif et des troubles du comportement concomitants. Une puberté précoce est également observée chez certains patients."},"de":{"name":"Hypothalamus-Hamartom mit gelastischen Anfällen","synonyms":["GS-HH"],"definition":"Eine seltene zerebrale Fehlbildung mit Epilepsiesyndrom, die durch früh einsetzende gelastische (d.h. iktal lachende) oder dakrystische (d.h. iktal weinende) Anfälle aufgrund einer nicht-neoplastischen Entwicklungsfehlbildung - hypothalamische Hamartome - gekennzeichnet ist. Bei vielen Patienten entwickeln sich die Anfälle zu anderen Anfallstypen, einschließlich fokaler und generalisierter Anfälle, mit begleitendem kognitiven Abbau und Verhaltensstörungen. Einige Patienten zeigen auch eine vorzeitige Pubertät."},"es":{"name":"Crisis gelásticas con hamartoma hipotalámico","synonyms":["Hamartoma hipotalámico con crisis gelásticas"],"definition":"Son una malformación cerebral poco frecuente con síndrome de epilepsia caracterizado por crisis de inicio temprano gelásticas (risa ictal) o dacrísticas (llanto ictal) debido a hamartomas hipotálamicos malformativos no neoplásicos . En muchos pacientes las crisis progresan a otros tipos de crisis, incluyendo crisis focales y generalizadas, con deterioro cognitivo concomitante y trastornos de conducta. Algunos pacientes también presentan pubertad precoz."},"it":{"name":"Amartomi ipotalamici associati a crisi gelastiche","definition":"Gli amartomi ipotalamici associati a crisi gelastiche sono malformazioni cerebrali rare associate ad epilessia, caratterizzate da crisi epilettiche gelastiche (risata ictale) o dacristiche (pianto ictale) ad esordio precoce, causate da malformazioni non neoplastiche dello sviluppo (amartomi ipotalamici). In molti pazienti, le crisi epilettiche progrediscono verso altri tipi di crisi (localizzate o generalizzate), con conseguente declino cognitivo e disturbi comportamentali. Alcuni pazienti presentano pubertà precoce."},"nl":{"name":"Gelastische insulten met hypothalamisch hamartoom","synonyms":["GS-HH","Hypothalamisch hamartoom met gelastische epileptische aanvallen"],"definition":"Hypothalamische hamartomen met gelastische epileptische aanvallen is een zeldzaam syndroom met een cerebrale malformatie en epilepsie, en wordt gekarakteriseerd door vroeg aanvangende gelastische (i.e. ictaal lachen) of dacrystische (i.e. ictaal huilen) aanvallen als gevolg van niet-neoplastische malformatie tijdens de ontwikkeling - hypothalamische hamartomen. Bij vele patiënten, evolueren de insulten naar andere types van insulten waaronder focale en gegeneraliseerde insulten, met daarmee gepaard gaande cognitieve aftakeling en gedragsstoornissen. Sommige patiënten vertonen ook een vroegtijdige puberteit."},"pt":{"name":"Crises gelásticas com hamartomas hipotalámicos"},"pl":{"name":"Hamartoma podwzgórza z napadami śmiechu","synonyms":["GS-HH","Hypothalamic hamartoma with gelastic seizures"]},"cs":{"name":"Hypotalamické hamartomy s gelastickými záchvaty","synonyms":["GS-HH","Hypothalamic hamartoma with gelastic seizures"]},"uk":{"name":"Гіпоталамічні гамартоми з еластичними судомами","definition":"Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty."},"zh":{"name":"下丘脑错构瘤伴痴笑样癫痫"},"tr":{"name":"Jelastik nöbetler ile seyreden hipotalamik hamartomlar"}},"xrefs":[{"source":"ICD-10","code":"G40.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019484","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}