{"Name":"Idiopathic hypersomnia","DiseaseID__c":"GARD:0008737","id":8737,"encodedName":"idiopathic-hypersomnia","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic hypersomnia","Xref_IDs__c":"3731000119107; C0751757; C116343; C84781; D020177; F51.11; MEDGEN:155626; MONDO:0018044; ORPHA:33208","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018044","Disease_Description__c":"A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded.","GARD_Name__c":"Idiopathic hypersomnia","GARD_Synonym__c":"idiopathic excessive sleepiness; primary hypersomnia","Curated_Disease_Description_Source__c":"GARD:0008737","Curated_Disease_Description__c":"Idiopathic hypersomnia (IH) is a neurological sleep disorder that can affect many aspects of a person's life. Symptoms often begin between adolescence and young adulthood and develop over weeks to months. People with IH have a hard time staying awake and alert during the day (chronic excessive daytime sleepiness). They may fall asleep unintentionally or at inappropriate times, interfering with daily functioning. They may also have difficulty waking up from nighttime sleep or daytime naps. Sleeping longer at night does not appear to improve daytime sleepiness. The cause of IH is not known. Some people with IH have other family members with a sleep disorder such as IH or narcolepsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:33208","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018044","ORPHANET_ID__c":"ORPHA:33208","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipersomnia idiopática","Spanish_Description_Source__c":"ORPHA:33208","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por somnolencia diurna excesiva con siestas largas no reparadoras, y/o sueño nocturno prolongado y sin interrupciones, alteración del estado de alerta diurno y/o inercia del sueño (es decir, gran dificultad para despertarse después de dormir), y en la que se han excluido otra posibles causas..","Spanish_Disease_Name__c":"hipersomnia idiopática","Spanish_GARD_Synonym__c":"somnolencia excesiva idiopática","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":"Idiopathic hypersomnia (IH) is a neurological sleep disorder that can affect many aspects of a person's life. Symptoms often begin between adolescence and young adulthood and develop over weeks to months. People with IH have a hard time staying awake and alert during the day (chronic excessive daytime sleepiness). They may fall asleep unintentionally or at inappropriate times, interfering with daily functioning. They may also have difficulty waking up from nighttime sleep or daytime naps. Sleeping longer at night does not appear to improve daytime sleepiness. The cause of IH is not known. Some people with IH have other family members with a sleep disorder such as IH or narcolepsy.","Curated_Disease_Description_Source__c":"GARD:0008737","GARD_Synonym__c":"idiopathic excessive sleepiness; primary hypersomnia","Name":"Idiopathic hypersomnia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Project Sleep","Website__c":"https://project-sleep.com/"},{"Account_Name__c":"American Sleep Association","Website__c":"http://www.sleepassociation.org/"},{"Account_Name__c":"Hypersomnia Foundation","Website__c":"https://www.hypersomniafoundation.org/"},{"Account_Name__c":"Hypersomnolence Australia","Website__c":"https://www.hypersomnolenceaustralia.org.au/"}],"GARD_Disease_Tag__c":[{"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":"All ages","Provided_By__c":"ORPHA:33208"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=155626","Source__c":"C0751757","Xref__c":"MEDGEN:155626"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116343","Source__c":"MONDO:0018044","Xref__c":"C116343"},{"URL__c":"https://www.orpha.net/en/disease/detail/33208","Source__c":"C0751757; MONDO:0018044; ORPHA:33208","Xref__c":"ORPHA:33208"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=3731000119107","Source__c":"C0751757; MONDO:0018044","Xref__c":"3731000119107"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020177","Source__c":"C0751757; MONDO:0018044","Xref__c":"D020177"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751757","Source__c":"C0751757","Xref__c":"C0751757"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/F51.11","Source__c":"MONDO:0018044","Xref__c":"F51.11"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018044","Source__c":"GARD:0008737","Xref__c":"MONDO:0018044"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84781","Source__c":"C0751757","Xref__c":"C84781"},{"URL__c":"https://project-sleep.com/fda-listening-session-on-narcolepsy-and-idiopathic-hypersomnia/"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced attention span characterized by distractibility and impulsivity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000736","HPO_Synonym__c":"Easily distracted; Easy distractibility; High distractibility; Poor attention span; Problem paying attention; Short attention span","HPO_Name__c":"Short attention span","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A state of abnormally strong desire for sleep during the daytime.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001262","HPO_Synonym__c":"Excessive daytime sleepiness; More than typical sleepiness during day","HPO_Name__c":"Excessive daytime somnolence","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypnagogic hallucinations are brief hallucinations that occur when falling asleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002519","HPO_Synonym__c":"Hallucinations while falling asleep","HPO_Name__c":"Hypnagogic hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hallucinations occurring during the transition from sleep to wakefulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006896","HPO_Synonym__c":"Hallucinations while awaking","HPO_Name__c":"Hypnopompic hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to move trunk and limbs and inability to speak during transition into or out of sleep; awareness is preserved and recall is present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025233","HPO_Name__c":"Sleep paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025267","HPO_Synonym__c":"Snore; Snores; Snoring symptoms","HPO_Name__c":"Snoring","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is \\\"cloudy\\\". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033630","HPO_Synonym__c":"Mental clouding; Mental fatigue; Mental fog","HPO_Name__c":"Brain fog","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33208","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000456","HPO_Synonym__c":"Confusional arousal; Slow speech or confused thinking upon waking","HPO_Name__c":"Sleep drunkeness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Sleep medicine","Pediatrics"]},"synonyms":["idiopathic excessive sleepiness"," primary hypersomnia"]}