{"orpha":33208,"name":"Idiopathic hypersomnia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic excessive sleepiness"],"definition":"A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33208/","orphanet_url":"https://www.orpha.net/en/disease/detail/33208","names":{"fr":{"name":"Hypersomnie idiopathique","synonyms":["Somnolence excessive idiopathique"],"definition":"Maladie neurologique rare caractérisée par une somnolence diurne excessive avec des siestes longues et non réparatrices, et/ou un sommeil nocturne prolongé et non perturbé, une vigilance diurne altérée, et/ou une inertie du sommeil (c'est-à-dire une difficulté de transition entre le sommeil et le réveil), en l'absence de toute autre cause."},"de":{"name":"Hypersomnie, idiopathische","synonyms":["Idiopathische übermäßige Schläfrigkeit"],"definition":"Eine seltene neurologische Erkrankung, die durch eine übermäßige Tagesschläfrigkeit mit langen und nicht erholsamen Nickerchen und/oder einen verlängerten und ungestörten Nachtschlaf, eine beeinträchtigte Tageswahrnehmung und/oder Schlafträgheit (d. h. große Schwierigkeiten beim Aufwachen nach dem Schlaf) gekennzeichnet ist und bei der andere Ursachen ausgeschlossen wurden."},"es":{"name":"Hipersomnia idiopática","synonyms":["Somnolencia excesiva idiopática"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por somnolencia diurna excesiva con siestas largas no reparadoras, y/o sueño nocturno prolongado y sin interrupciones, alteración del estado de alerta diurno y/o inercia del sueño (es decir, gran dificultad para despertarse después de dormir), y en la que se han excluido otra posibles causas.."},"it":{"name":"Ipersonnia idiopatica","definition":"Si tratta di una malattia neurologica rara, caratterizzata da un'eccessiva sonnolenza durante il giorno, con periodi di sonno lunghi e non riposanti e/o un sonno notturno prolungato e indisturbato, scarsa attenzione diurna e/o inerzia da sonno (grande difficoltà a svegliarsi), la cui eziologia non è nota."},"nl":{"name":"Idiopathische hypersomnie","synonyms":["Idiopathische excessieve slaperigheid"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door excessieve slaperigheid overdag met lange en niet-verkwikkende dutjes, en/of langdurige en onverstoorde nachtelijke slaap, beperkte alertheid overdag, en/of slaapinertie (i.e. grote moeite met ontwaken na slapen), waarvoor andere oorzaken werden uitgesloten."},"pt":{"name":"Hipersónia idiopática","definition":"A hipersónia idiopática é uma patologia do sono classificada em duas formas: hipersónia idiopática com tempo de sono prolongado e hipersónia idiopática sem tempo de sono prolongado."},"pl":{"name":"Idiopatyczna hipersomnia","synonyms":["Hipersomnia pierwotna"]},"cs":{"name":"Idiopatická hypersomnie","synonyms":["Primární hypersomnie"]},"uk":{"name":"Ідіопатична гіперсомнія","synonyms":["Ідіопатична надмірна сонливість"],"definition":"A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded."},"zh":{"name":"特发性过度睡眠","synonyms":["原发性过度睡眠"]},"tr":{"name":"İdiyopatik hipersomni","synonyms":["Primer hipersomnia"]}},"xrefs":[{"source":"ICD-10","code":"G47.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"7A21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"631826564"},{"source":"MONDO","code":"0018044","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020177","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751757","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8737","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":228315,"name":"OBSOLETE: Idiopathic hypersomnia with long sleep time","status":"inactive"},{"type":"Referred to","orpha":228318,"name":"OBSOLETE: Idiopathic hypersomnia without long sleep time","status":"inactive"}],"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":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-07","source":"36401976[PMID]_28778232[PMID]","terms":[{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033630","label":"Brain fog","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000456","label":"Sleep drunkeness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002519","label":"Hypnagogic hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006896","label":"Hypnopompic hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025233","label":"Sleep paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025267","label":"Snoring","frequency":"Very rare (<4-1%)","criteria":null}]}}