{"orpha":73267,"name":"Non-24-hour sleep-wake syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypernychthemeral syndrome"],"definition":"A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73267/","orphanet_url":"https://www.orpha.net/en/disease/detail/73267","names":{"fr":{"name":"Syndrome du rythme différent de 24h","synonyms":["Rythme hypernyctéméral","Syndrome hypernyctéméral"],"definition":"Maladie neurologique rare faisant partie des troubles du rythme circadien du sommeil, caractérisée par une absence de synchronisation sur la journée de 24 heures, entraînant insomnies et somnolence diurne, parfois associées à des manifestations sévères."},"de":{"name":"Nicht-24-Stunden-Schlaf-Wach-Syndrom","synonyms":["Hypernykthemerales Syndrom"],"definition":"Eine seltene neurologische Erkrankung, bei der es sich um eine Störung des zirkadianen Schlafrhythmus handelt, die durch eine fehlende Synchronisierung mit dem 24-Stunden-Tag gekennzeichnet ist und zu Schlaflosigkeit und Tagesmüdigkeit mit manchmal schweren Begleiterscheinungen führt."},"es":{"name":"Síndrome de vigilia-sueño no de 24 horas","synonyms":["Síndrome hipernictemeral"],"definition":"Es un trastorno del ritmo circadiano del sueño caracterizado por la falta de sincronización del ciclo con un día de 24 horas. Esto conduce a insomnio y somnolencia diurna que, en ocasiones, se asocia a otras manifestaciones graves."},"it":{"name":"Sindrome del ritmo sonno-veglia diverso dalle 24 ore","synonyms":["Sindrome della veglia di 24 ore","Sindrome ipernictemerale"],"definition":"Si tratta di una malattia neurologica rara che consiste in un'alterazione del ritmo circadiano del sonno, caratterizzata dalla mancata sincronizzazione rispetto alla giornata di 24 ore, che causa insonnia e sonnolenza durante il giorno, talvolta associate a segni clinici gravi."},"nl":{"name":"Niet-24-uurs slaap-waaksyndroom","synonyms":["Hypernychthemeraal syndroom"],"definition":"Een zeldzame neurologische aandoening en stoornis van circadiaan ritme, gekarakteriseerd door gebrek aan synchronisatie met een dag van 24 uren, wat leidt tot insomnie en slaperigheid overdag, met soms ernstige geassocieerde manifestaties."},"pt":{"name":"Síndrome hipernictemeral","synonyms":["Síndrome ciclo sono-vigília não-24h"]},"pl":{"name":"Zespół nie-24-godzinnego rytmu snu-czuwania","synonyms":["Zespół wydłużonej doby"]},"cs":{"name":"Syndrom nesynchronizovaného 24-hodinového rytmu","synonyms":["Hypernychthemerální syndrom"]},"uk":{"name":"Синдром порушення 24-годинного циклу сну-неспання","synonyms":["Гіпернітеральний синдром"],"definition":"A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations."},"zh":{"name":"非24小时睡眠-觉醒综合征","synonyms":["超24小时综合征"]},"tr":{"name":"24 saatlik olmayan uyku-uyanıklık sendromu","synonyms":["Hipernikemeral sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"7A6Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1854260949"},{"source":"MONDO","code":"0019137","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5545668","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10949","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68354,"name":"Rare sleep disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-17","source":"1435929[PMID]_18041479[PMID]_23385698[PMID]_26568125[PMID]_27500861[PMID]","terms":[{"hpo":"HP:0012689","label":"Abnormal pineal melatonin secretion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Frequent (79-30%)","criteria":null}]}}