{"orpha":33543,"name":"Kleine-Levin syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33543/","orphanet_url":"https://www.orpha.net/en/disease/detail/33543","names":{"fr":{"name":"Syndrome de Kleine-Levin","definition":"Le syndrome de Kleine-Levin (SKL) est une maladie neurologique rare, de cause inconnue, caractérisée par des épisodes récurrents comportant une hypersomnie, et des troubles cognitifs et comportementaux."},"de":{"name":"Kleine-Levin-Syndrom","definition":"Das Kleine-Levin-Syndrom (KLS) ist eine seltene neurologische Störung unbekannten Ursprungs, die durch schubweise remittierende Episoden von Hypersomnie in Verbindung mit kognitiven und Verhaltensstörungen gekennzeichnet ist."},"es":{"name":"Síndrome de Kleine-Levin","definition":"Es un trastorno neurológico poco frecuente de origen desconocido, que se caracteriza por episodios de hipersomnia recidivantes-remitentes en asociación con trastornos cognitivos y conductuales."},"it":{"name":"Sindrome di Kleine-Levin","definition":"La sindrome di Kleine-Levin (KLS) è una malattia neurologica rara ad eziologia non nota. È caratterizzata da episodi di ipersonnia di tipo ricaduta-remissione, associati a disturbi cognitivi e comportamentali."},"nl":{"name":"Syndroom van Kleine-Levin","definition":"Syndroom van Kleine-Levin (KLS) een zeldzame neurologische stoornis met een onbekende oorsprong, en wordt gekarakteriseerd door recidiverende-remitterende episodes van hypersomnie, geassocieerd met cognitieve en gedragsstoornissen."},"pt":{"name":"Síndrome Kleine-Levin","definition":"A síndrome de Kleine-Levin (KLS) é uma doença neurológica rara de origem desconhecida caracterizada por episódios de hipersónia, associados a distúrbios cognitivos e comportamentais."},"pl":{"name":"Zespół Kleinego i Levina"},"cs":{"name":"Kleineho-Levinův syndrom","synonyms":["Kleine-Levinův syndrom"]},"uk":{"name":"Синдром Клайн-Левіна","definition":"Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances."},"zh":{"name":"克莱恩-莱文综合征"},"tr":{"name":"Kleine-Levin sendromu"}},"xrefs":[{"source":"OMIM","code":"148840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G47.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"7A22","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1180849398"},{"source":"MONDO","code":"0007863","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017593","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206085","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3117","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053712","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":[{"symbol":"TRANK1","name":"tetratricopeptide repeat and ankyrin repeat containing 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"33737391[PMID]","hgnc":"29011","ensembl":"ENSG00000168016","omim":"619316","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"France","status":"Validated","source":"25559212[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-02-16","source":"16230322[PMID]_18438947[PMID]_36590182[PMID]","terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007200","label":"Episodic hypersomnia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100738","label":"Abnormal eating behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5200321","label":"Amplification of sexual behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031249","label":"Parageusia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034004","label":"Parosmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007057","label":"Poor hand-eye coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008762","label":"Repetitive compulsive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010534","label":"Transient global amnesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0046504","label":"Decreased libido","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5200218","label":"Derealization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031217","label":"Hot flashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002519","label":"Hypnagogic hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","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:0030221","label":"Sweet craving","frequency":"Occasional (29-5%)","criteria":null}]}}