{"orpha":83465,"name":"Narcolepsy type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Narcolepsy without cataplexy"],"definition":"A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83465/","orphanet_url":"https://www.orpha.net/en/disease/detail/83465","names":{"fr":{"name":"Narcolepsie de type 2","synonyms":["Narcolepsie sans cataplexie"],"definition":"Maladie neurologique rare caractérisée par une somnolence diurne excessive associée à des envies incontrôlables de sommeil et parfois à une paralysie du sommeil, ainsi qu'à des hallucinations hypnagogiques/hypnopompiques."},"de":{"name":"Narkolepsie Typ 2","synonyms":["Narkolepsie ohne Kataplexie"],"definition":"Eine seltene neurologische Erkrankung, die durch übermäßige Tagesschläfrigkeit in Verbindung mit unkontrollierbarem Schlafbedürfnis und manchmal Schlaflähmung sowie hypnagogischen/hypnopompischen Halluzinationen gekennzeichnet ist."},"es":{"name":"Narcolepsia tipo 2","synonyms":["Narcolepsia sin cataplejía","Narcolepsia sin cataplexia"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por una somnolencia diurna excesiva, asociada a ataques de sueño incontrolables y, en ocasiones, a parálisis del sueño y a alucinaciones hipnagógicas/ hipnopómpicas."},"it":{"name":"Narcolessia tipo 2","synonyms":["Narcolessia senza cataplessia"],"definition":"Si tratta di una malattia neurologica rara, caratterizzata da un'eccessiva sonnolenza durante il giorno, associata alla necessità incontrollabile di dormire e, talvolta, alla paralisi durante il sonno e alle allucinazioni ipnagogiche/ipnopompiche."},"nl":{"name":"Narcolepsie type 2","synonyms":["Narcolepsie zonder kataplexie"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door overmatige slaperigheid overdag, geassocieerd met oncontroleerbare slaapdrang en soms slaapverlamming, en hypnagoge/hypnopompe hallucinaties."},"pt":{"name":"Narcolepsia tipo 2","synonyms":["Narcolepsia sem cataplexia"],"definition":"A narcolepsia sem cataplexia é caracterizada por sonolência excessiva durante o dia associada a vontade incontrolável de dormir e por vezes paralisia no sono, alucinações hipnagógicas e comportamento automático."},"pl":{"name":"Narkolepsja bez katalepsji","synonyms":["Narcolepsy without cataplexy"]},"cs":{"name":"Narkolepsie bez kataplexie","synonyms":["Narcolepsy without cataplexy"]},"uk":{"name":"Нарколепсія, тип 2","synonyms":["Нарколепсія без катаплексії"],"definition":"A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations."},"zh":{"name":"发作性睡病2型","synonyms":["发作性睡病不伴猝倒"]},"tr":{"name":"Narkolepsi tip 2","synonyms":["Katapleksi olmadan narkolepsi"]}},"xrefs":[{"source":"ICD-10","code":"G47.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"7A20.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1494673323"},{"source":"MONDO","code":"0019371","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1456240","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":619284,"name":"Narcolepsy","classifications":[181]}],"children":[],"genes":[{"symbol":"HCRT","name":"hypocretin neuropeptide precursor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"10973318[PMID]_23643651[PMID]","hgnc":"4847","ensembl":"ENSG00000161610","omim":"602358","loci":["17q21.2"]},{"symbol":"HLA-DQB1","name":"major histocompatibility complex, class II, DQ beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"18706091[PMID]_21345702[PMID]","hgnc":"4944","ensembl":"ENSG00000179344","omim":"604305","loci":["6p21.32"]},{"symbol":"HLA-DRB1","name":"major histocompatibility complex, class II, DR beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"18706091[PMID]_19410508[PMID]","hgnc":"4948","ensembl":"ENSG00000196126","omim":"142857","loci":["6p21.32"]},{"symbol":"ZNF365","name":"zinc finger protein 365","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24204295[PMID]","hgnc":"18194","ensembl":"ENSG00000138311","omim":"607818","loci":["10q21.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult","Childhood"],"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":20.3,"area":"United States","status":"Validated","source":"11902429[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null}]}}