{"orpha":164736,"name":"Familial advanced sleep-phase syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FASPS"],"definition":"A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-164736/","orphanet_url":"https://www.orpha.net/en/disease/detail/164736","names":{"fr":{"name":"Syndrome d'avance de phase du sommeil","definition":"Maladie neurologique génétique rare caractérisée par un endormissement et un réveil très précoces. Les concentrations plasmatiques en mélatonine et les rythmes de température centrale du corps sont également en avance de phase. Le cycle veille-sommeil est généralement raccourci. Les autres caractéristiques rapportées sont une migraine avec ou sans aura et un trouble affectif saisonnier."},"de":{"name":"Familiäres vorverlagertes Schlafphasensyndrom","synonyms":["FASPS"],"definition":"Eine genetisch bedingte seltene neurologische Störung, die durch einen sehr frühen Schlafbeginn und -abfall gekennzeichnet ist. Der Melatoninspiegel im Plasma und der Rhythmus der Körperkerntemperatur sind ebenfalls phasenverschoben. Der Schlaf-Wach-Rhythmus ist im Allgemeinen verkürzt. Zu den weiteren berichteten Merkmalen gehören Migräne mit oder ohne Aura und eine saisonale affektive Störung."},"es":{"name":"Síndrome familiar de fase avanzada del sueño","definition":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por un inicio muy temprano de la fase de sueño y vigilia. Los niveles plasmáticos de melatonina y los ritmos de temperatura corporal central también presentan una fase avanzada. Por lo general, el ciclo de sueño-vigilia está acortado. Otros hallazgos adicionales descritos incluyen migraña con o sin aura y trastorno afectivo estacional."},"it":{"name":"Sindrome familiare da anticipazione del sonno","definition":"Si tratta di una malattia neurologica rara, di origine genetica, caratterizzata da un addormentamento e da un risveglio molto anticipati, con livelli di melatonina nel plasma e ritmi altrettanto anticipati della temperatura centrale del corpo. In genere il ciclo sonno-veglia è abbreviato. Altri segni clinici sono l'emicrania con o senza aura e il disturbo affettivo stagionale."},"nl":{"name":"Familiaal geavanceerde slaapfase-syndroom","synonyms":["FASPS"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door zeer vroeg begin en einde van slaap. Fases van melatoninegehaltes in plasma en ritmes van kerntemperatuur zijn ook vervroegd. De slaap-waakcyclus is doorgaans korter. Bijkomend gerapporteerde kenmerken zijn onder meer migraine met of zonder aura, en seizoensgebonden affectieve stoornis."},"pt":{"name":"Síndrome familiar da fase avançada do sono"},"pl":{"name":"Rodzinny zespół zaawansowanej fazy snu","synonyms":["FASPS"]},"cs":{"name":"Dědičný syndrom rozvinuté spánkové fáze","synonyms":["FASPS"]},"uk":{"name":"Сімейний синдром розширеної фази сну","synonyms":["FASPS"],"definition":"A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder."},"zh":{"name":"家族性睡眠时相延迟综合征","synonyms":["FASPS"],"definition":"一种罕见的遗传性神经系统疾病，其特征是很早开始睡眠和终止睡眠。血浆褪黑素水平和中心体温节律也呈实相提前。睡眠-觉醒周期通常会缩短。其他报道过的特征包括伴或不伴先兆的偏头痛和季节性情感障碍。"},"tr":{"name":"Ailesel ileri uyku fazı sendromu","synonyms":["FASPS"]}},"xrefs":[{"source":"OMIM","code":"604348","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615224","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616882","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620015","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"1304946686"},{"source":"MONDO","code":"15609","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565789","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858496","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9242","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]},{"orpha":68354,"name":"Rare sleep disorder","classifications":[181]}],"children":[],"genes":[{"symbol":"CSNK1D","name":"casein kinase 1 delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15800623[PMID]","hgnc":"2452","ensembl":"ENSG00000141551","omim":"600864","loci":["17q25.3"]},{"symbol":"PER2","name":"period circadian regulator 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11232563[PMID]","hgnc":"8846","ensembl":"ENSG00000132326","omim":"603426","loci":["2q37.3"]},{"symbol":"PER3","name":"period circadian regulator 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26903630[PMID]","hgnc":"8847","ensembl":"ENSG00000049246","omim":"603427","loci":["1p36.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}