{"orpha":2073,"name":"Narcolepsy type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gélineau disease","Hypocretin/orexin deficiency syndrome","Narcolepsy-cataplexy"],"definition":"A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2073/","orphanet_url":"https://www.orpha.net/en/disease/detail/2073","names":{"fr":{"name":"Narcolepsie de type 1","synonyms":["Maladie de Gélineau","Narcolepsie-cataplexie","Syndrome de déficit en hypocrétine/orexine"],"definition":"Maladie neurologique rare caractérisée par une somnolence diurne excessive associée à des envies incontrôlables de sommeil et une cataplexie (perte soudaine du tonus musculaire pendant l'éveil, souvent déclenchée par des émotions agréables)."},"de":{"name":"Narkolepsie Typ 1","synonyms":["Gélineau-Krankheit","Hypocretin/Orexin-Mangel","Narkolepsie mit Kataplexie"],"definition":"Eine seltene neurologische Erkrankung, die durch übermäßige Tagesmüdigkeit in Verbindung mit unkontrollierbarem Schlafbedürfnis und Kataplexie (plötzlicher Verlust des Muskeltonus im Wachzustand, oft ausgelöst durch angenehme Gefühle) gekennzeichnet ist."},"es":{"name":"Narcolepsia tipo 1","synonyms":["Enfermedad de Gélineau","Narcolepsia-cataplejía","Narcolepsia-cataplexia","Síndrome de deficiencia de hipocretina/orexina"],"definition":"Es un trastorno del sueño caracterizado por somnolencia diurna excesiva acompañada de episodios incontrolables de sueño y cataplejía (pérdida de tono muscular súbita, a menudo desencadenada por emociones agradables)."},"it":{"name":"Narcolessia tipo 1","synonyms":["Malattia di Gélineau","Sindrome da deficit di ipocretina/oressina","Narcolessia - cataplessia"],"definition":"La narcolessia tipo 1 è una malattia neurologica rara, caratterizzata da eccessiva sonnolenza diurna, associata alla necessità incontrollabile di dormire e alla cataplessia (perdita improvvisa del tono muscolare durante la veglia, spesso causata da emozioni piacevoli)."},"nl":{"name":"Narcolepsie type 1","synonyms":["Hypocretine/orexine-deficiëntiesyndroom","Narcolepsie - kataplexie","Ziekte van Gélineau"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door excessieve slaperigheid overdag, geassocieerd met oncontroleerbare slaapdrang en kataplexie (plots verlies van spiertonus in wakkere toestand, vaak uitgelokt door aangename emoties)."},"pt":{"name":"Narcolepsia tipo 1","synonyms":["Doença de Gélineau","Narcolepsia-cataplexia"],"definition":"A narcolepsia com cataplexia é uma patologia do sono caracterizada por sonolência excessiva durante o dia com sono incontrolável e cataplexia (perda do tónus muscular frequentemente desencadeada por emoções agradáveis)."},"pl":{"name":"Narkolepsja-katalepsja","synonyms":["Choroba Gélineau","Narkolepsja typu 1"]},"cs":{"name":"Narkolepsie s kataplexií","synonyms":["Gélineauova nemoc"]},"uk":{"name":"Нарколепсія, тип 1","synonyms":["Хвороба Жиляно","Нарколепсія-катаплексія"],"definition":"A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions)."},"zh":{"name":"发作性睡病1型","synonyms":["发作性睡病-猝倒"]},"tr":{"name":"Narkolepsi tip 1","synonyms":["Gélineau hastalığı","Narkolepsi-katapleksi"]}},"xrefs":[{"source":"OMIM","code":"161400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605841","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609039","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612417","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612851","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614223","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614250","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G47.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"7A20.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1851015159"},{"source":"MONDO","code":"0016158","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4543926","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":"CTSH","name":"cathepsin H","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23459209[PMID]","hgnc":"2535","ensembl":"ENSG00000103811","omim":"116820","loci":["15q25.1"]},{"symbol":"HCRT","name":"hypocretin neuropeptide precursor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"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]","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":"MOG","name":"myelin oligodendrocyte glycoprotein","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21907016[PMID]","hgnc":"7197","ensembl":"ENSG00000204655","omim":"159465","loci":["6p22.1"]},{"symbol":"P2RY11","name":"purinergic receptor P2Y11","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24204295[PMID]","hgnc":"8540","ensembl":"ENSG00000244165","omim":"602697","loci":["19p13.2"]},{"symbol":"TNFSF4","name":"TNF superfamily member 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23459209[PMID]","hgnc":"11934","ensembl":"ENSG00000117586","omim":"603594","loci":["1q25.1"]},{"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":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Europe","status":"Validated","source":"24849861[PMID]_[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"United States","status":"Validated","source":"11902429[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":22.0,"area":"Norway","status":"Validated","source":"19456307[PMID]_24849861[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":26.0,"area":"Finland","status":"Validated","source":"8210228[PMID]_24849861[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":34.0,"area":"China","status":"Validated","source":"11164060[PMID]_24849861[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":28.9,"area":"United States","status":"Not yet validated","source":"11902429[PMID]_19013100[PMID]_24849861[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"United Kingdom","status":"Validated","source":"8894197[PMID]_24849861[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-07","source":"36949858[PMID]_35624073[PMID]_29083681[PMID]","terms":[{"hpo":"HP:0002524","label":"Cataplexy","frequency":"Very frequent (99-80%)","criteria":"Pathognomonic sign"},{"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:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010534","label":"Transient global amnesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007686","label":"Abnormal pupillary function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002494","label":"Abnormal rapid eye movement sleep","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030014","label":"Female sexual dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002519","label":"Hypnagogic hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006896","label":"Hypnopompic hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040307","label":"Male sexual dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000017","label":"Nocturia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025235","label":"Non-rapid eye movement parasomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025233","label":"Sleep paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Very rare (<4-1%)","criteria":null}]}}