{"orpha":79156,"name":"Seizures-intellectual disability due to hydroxylysinuria syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79156/","orphanet_url":"https://www.orpha.net/en/disease/detail/79156","names":{"fr":{"name":"Syndrome de convulsions-déficience intellectuelle par hydroxylysinurie","definition":"Erreur innée du métabolisme rare caractérisée par l'apparition infantile d'un retard global de développement, d'une déficience intellectuelle sévère, de crises d'épilepsie et de troubles du mouvement (dont tremblements, hyperkinésie et myoclonie), associée à une excrétion excessive d'hydroxylysine dans l'urine. Aucun cas n'a été décrit dans la littérature depuis 1970."},"de":{"name":"Syndrom der Krampfanfälle mit Intelligenzminderung und Hydroxylysinurie","definition":"Eine seltene angeborene Stoffwechselstörung, die durch eine globale Entwicklungsverzögerung im Kindesalter, schwere Intelligenzminderung, Krampfanfälle und Bewegungsstörungen (einschließlich Tremor, Hyperkinesie und Myoklonus) gekennzeichnet ist und mit einer übermäßigen Ausscheidung von Hydroxylysin im Urin einhergeht. Seit 1970 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de crisis-discapacidad intelectual por hidroxilsinuria","definition":"Es un error congénito del metabolismo poco frecuente caracterizado por el inicio en la lactancia de retraso global del desarrollo, grave discapacidad intelectual, crisis epilépticas y trastornos del movimiento (como temblores, hipercinesia y mioclonías), asociados a una excreción urinaria excesiva de hidroxilisina. No ha habido más casos descritos en la literatura desde 1970."},"it":{"name":"Sindrome crisi epilettiche-disabilità intellettiva da idrossilisinuria","definition":"Si tratta di un errore congenito raro del metabolismo, che esordisce nella prima infanzia con ritardo dello sviluppo globale, disabilità intellettiva grave, convulsioni e disturbi del movimento (tremore, ipercinesia e mioclonie), associati a livelli molto elevati di idrossilisina nelle urine. Non sono stati descritti nuovi casi dopo il 1970."},"nl":{"name":"Epileptische aanvallen - intellectuele achterstand door hydroxylysinurie-syndroom","definition":"Een zeldzaam aangeboren defect van stofwisseling, gekenmerkt door infantiele aanvang van algehele ontwikkelingsachterstand, ernstige intellectuele achterstand, insulten, en bewegingsstoornissen (waaronder tremor, hyperkinesie, en myoclonus), geassocieerd met excessieve excretie van hydroxylysine in urine. Sinds 1970 verschenen er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de convulsões-perturbação do desenvolvimento intelectual por hidroxilisinúria"},"pl":{"name":"Ataki padaczkowe - niepełnosprawność intelektualna z powodu hydroksylizynurii"},"cs":{"name":"Syndrom zahrnující křeče a mentální postižení způsobený hydroxylysinurií"},"uk":{"name":"Синдром судоми-інтелектуальної недостатності внаслідок гідроксилізинурії","definition":"A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970."},"zh":{"name":"羟赖氨酸尿症所致癫痫-智力障碍综合征"},"tr":{"name":"Hidroksilisinüri sendromuna bağlı zihinsel yetersizlik-nöbetler"}},"xrefs":[{"source":"OMIM","code":"236900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1235182906"},{"source":"MONDO","code":"0009373","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":289832,"name":"Disorder of lysine and hydroxylysine metabolism","classifications":[150,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"10.1007/978-3-642-55878-8_18[DOI]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10.1007/978-3-642-55878-8_18[DOI]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null}]}}