{"Name":"Advanced sleep phase syndrome","DiseaseID__c":"GARD:0009242","id":9242,"encodedName":"advanced-sleep-phase-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Advanced sleep phase syndrome","Xref_IDs__c":"715829003; C1858496; DOID:0050628; MEDGEN:348956; MONDO:0015609; OMIMPS:604348; ORPHA:164736","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015609","Disease_Description__c":"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.","GARD_Name__c":"Advanced sleep phase syndrome","GARD_Synonym__c":"familial advanced sleep phase syndrome; familial advanced sleep-phase syndrome; fasps","Curated_Disease_Description_Source__c":"MONDO:0015609","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:164736","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015609","ORPHANET_ID__c":"ORPHA:164736","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome familiar de fase avanzada del sueño","Spanish_Description_Source__c":"ORPHA:164736","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"síndrome familiar de fase avanzada del sueño","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0015609","GARD_Synonym__c":"familial advanced sleep phase syndrome; familial advanced sleep-phase syndrome; fasps","Name":"Advanced sleep phase syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Circadian Sleep Disorders Network","Website__c":"https://www.circadiansleepdisorders.org/"},{"Account_Name__c":"Project Sleep","Website__c":"https://project-sleep.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Sleep medicine","Tag_Category__c":"Specialist","curated_tag_name":"Sleep medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:164736"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:164736"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3807327"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009242","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS604348","Source__c":"MONDO:0015609","Xref__c":"OMIMPS:604348"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715829003","Source__c":"C1858496; MONDO:0015609","Xref__c":"715829003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858496","Source__c":"C1858496","Xref__c":"C1858496"},{"URL__c":"https://www.orpha.net/en/disease/detail/164736","Source__c":"C1858496; MONDO:0015609; ORPHA:164736","Xref__c":"ORPHA:164736"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050628","Source__c":"MONDO:0015609","Xref__c":"DOID:0050628"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348956","Source__c":"C1858496","Xref__c":"MEDGEN:348956"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015609","Source__c":"GARD:0009242","Xref__c":"MONDO:0015609"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PER3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PER2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CSNK1D","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Sleep medicine","Pediatrics"]},"synonyms":["familial advanced sleep phase syndrome"," familial advanced sleep-phase syndrome"," fasps"]}