MCID: IDP031
MIFTS: 39

Idiopathic Hypersomnia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Idiopathic Hypersomnia

MalaCards integrated aliases for Idiopathic Hypersomnia:

Name: Idiopathic Hypersomnia 20 58 54
Primary Hypersomnia 20 70
Idiopathic Excessive Sleepiness 58
Hypersomnolence, Idiopathic 70
Idiopathic Hypersomnolence 20

Characteristics:

Orphanet epidemiological data:

58
idiopathic hypersomnia
Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 F51.1
UMLS via Orphanet 71 C0751757
Orphanet 58 ORPHA33208
SNOMED-CT via HPO 68 271782001 77692006 79519003
UMLS 70 C0033138 C0751757

Summaries for Idiopathic Hypersomnia

GARD : 20 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, or EDS). 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. IH is a chronic disorder. Symptoms may remain generally stable over time, or severity may fluctuate over time. The cause of IH is not known. Some people with IH have other family members with a sleep disorder such as IH or narcolepsy. Currently there is no treatment approved by the FDA specifically for IH, but some people may be helped by medications used to treat other disorders ("off-label") such as narcolepsy. Unlike in narcolepsy, in which scheduled naps may help, daytime naps in people with IH are often long yet unrefreshing. People with IH may experience improvement with medication; however, medications do not work well for all people or may stop working over time.

MalaCards based summary : Idiopathic Hypersomnia, also known as primary hypersomnia, is related to hypersomnia and narcolepsy. An important gene associated with Idiopathic Hypersomnia is HCRT (Hypocretin Neuropeptide Precursor), and among its related pathways/superpathways are ICos-ICosL Pathway in T-Helper Cell and TCR signaling (REACTOME). The drugs Sodium citrate and Sodium oxybate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and pituitary, and related phenotypes are hypersomnia and excessive daytime somnolence

Wikipedia : 73 Idiopathic hypersomnia is a neurological disorder which is characterized primarily by excessive sleep... more...

Related Diseases for Idiopathic Hypersomnia

Diseases related to Idiopathic Hypersomnia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 hypersomnia 30.7 HLA-DRB1 HLA-DQB1 HCRT
2 narcolepsy 30.5 HLA-DRB1 HLA-DQB1 HCRT
3 kleine-levin hibernation syndrome 29.9 HLA-DQB1 HCRT
4 recurrent hypersomnia 29.6 HLA-DQB1 HCRT
5 narcolepsy 2 29.2 HLA-DRB1 HLA-DQB1 HCRT
6 sleep disorder 10.6
7 sleep apnea 10.2
8 hypothyroidism 10.0
9 mood disorder 10.0
10 rare sleep disorder 10.0
11 limbic encephalitis with lgi1 antibodies 10.0 HLA-DRB1 HLA-DQB1
12 autoimmune polyglandular syndrome type 3 10.0 HLA-DRB1 HLA-DQB1
13 htlv-1 associated myelopathy/tropical spastic paraparesis 10.0 HLA-DRB1 HLA-DQB1
14 latent autoimmune diabetes in adults 10.0 HLA-DRB1 HLA-DQB1
15 occupational asthma 10.0 HLA-DRB1 HLA-DQB1
16 primary adrenal insufficiency 10.0 HLA-DRB1 HLA-DQB1
17 recurrent respiratory papillomatosis 10.0 HLA-DRB1 HLA-DQB1
18 beryllium disease 10.0 HLA-DRB1 HLA-DQB1
19 apple allergy 10.0 HLA-DRB1 HLA-DQB1
20 chronic beryllium disease 10.0 HLA-DRB1 HLA-DQB1
21 metal allergy 10.0 HLA-DRB1 HLA-DQB1
22 autoimmune hepatitis 10.0 HLA-DRB1 HLA-DQB1
23 autoimmune hepatitis type 1 10.0 HLA-DRB1 HLA-DQB1
24 focal epithelial hyperplasia 10.0 HLA-DRB1 HLA-DQB1
25 pediatric multiple sclerosis 10.0 HLA-DRB1 HLA-DQB1
26 podoconiosis 10.0 HLA-DRB1 HLA-DQB1
27 pemphigoid 10.0 HLA-DRB1 HLA-DQB1
28 osteonecrosis of the jaw 10.0 HLA-DRB1 HLA-DQB1
29 pityriasis rosea 10.0 HLA-DRB1 HLA-DQB1
30 oligoarticular juvenile idiopathic arthritis 10.0 HLA-DRB1 HLA-DQB1
31 idiopathic nephrotic syndrome 10.0 HLA-DRB1 HLA-DQB1
32 ocular cicatricial pemphigoid 10.0 HLA-DRB1 HLA-DQB1
33 cicatricial pemphigoid 10.0 HLA-DRB1 HLA-DQB1
34 alveolar echinococcosis 10.0 HLA-DRB1 HLA-DQB1
35 paraneoplastic pemphigus 10.0 HLA-DRB1 HLA-DQB1
36 pemphigus 10.0 HLA-DRB1 HLA-DQB1
37 cytomegalovirus retinitis 10.0 HLA-DRB1 HLA-DQB1
38 cystic echinococcosis 10.0 HLA-DRB1 HLA-DQB1
39 pure red-cell aplasia 10.0 HLA-DRB1 HLA-DQB1
40 trachoma 10.0 HLA-DRB1 HLA-DQB1
41 microscopic colitis 10.0 HLA-DRB1 HLA-DQB1
42 autoimmune gastritis 10.0 HLA-DRB1 HLA-DQB1
43 acute chest syndrome 10.0 HLA-DRB1 HLA-DQB1
44 peanut allergy 10.0 HLA-DRB1 HLA-DQB1
45 panuveitis 10.0 HLA-DRB1 HLA-DQB1
46 idiopathic bronchiectasis 10.0 HLA-DRB1 HLA-DQB1
47 allergic bronchopulmonary aspergillosis 10.0 HLA-DRB1 HLA-DQB1
48 rheumatic fever 9.9 HLA-DRB1 HLA-DQB1
49 rheumatic heart disease 9.9 HLA-DRB1 HLA-DQB1
50 vogt-koyanagi-harada disease 9.9 HLA-DRB1 HLA-DQB1

Graphical network of the top 20 diseases related to Idiopathic Hypersomnia:



Diseases related to Idiopathic Hypersomnia

Symptoms & Phenotypes for Idiopathic Hypersomnia

Human phenotypes related to Idiopathic Hypersomnia:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypersomnia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100786
2 excessive daytime somnolence 58 31 hallmark (90%) Very frequent (99-80%) HP:0001262
3 sleep disturbance 58 Very frequent (99-80%)

Drugs & Therapeutics for Idiopathic Hypersomnia

Drugs for Idiopathic Hypersomnia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 2, Phase 3 68-04-2
2
Sodium oxybate Approved Phase 2, Phase 3 502-85-2 5360545
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 77-92-9 311
4 Pharmaceutical Solutions Phase 2, Phase 3
5 Citrate Phase 2, Phase 3
6 Anesthetics Phase 2, Phase 3
7 Anesthetics, General Phase 2, Phase 3
8 Anesthetics, Intravenous Phase 2, Phase 3
9
Flumazenil Approved Phase 1, Phase 2 78755-81-4 3373
10
Clarithromycin Approved Phase 2 81103-11-9 84029
11
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
12
Modafinil Approved, Investigational Phase 2 68693-11-8 4236
13
Amphetamine Approved, Illicit, Investigational Phase 2 300-62-9 5826 3007
14
Dextroamphetamine Approved, Illicit Phase 2 51-64-9 5826
15 Antidotes Phase 1, Phase 2
16 Protective Agents Phase 1, Phase 2
17 GABA Modulators Phase 1, Phase 2
18 Cytochrome P-450 CYP3A Inhibitors Phase 2
19 Cytochrome P-450 Enzyme Inhibitors Phase 2
20 Anti-Bacterial Agents Phase 2
21 Anti-Infective Agents Phase 2
22 Dopamine Agents Phase 2
23 Sympathomimetics Phase 2
24 adderall Phase 2
25 Dopamine Uptake Inhibitors Phase 2
26 Adrenergic Agents Phase 2
27 Antibiotics, Antitubercular Phase 2
28 Central Nervous System Stimulants Phase 2
29 Neurotransmitter Agents Phase 2
30 Convulsants Phase 2
31 Pentylenetetrazole Phase 2 54-95-5

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Double-blind, Placebo-controlled, Randomized Withdrawal, Multicenter Study of the Efficacy and Safety of JZP-258 in the Treatment of Idiopathic Hypersomnia (IH) With an Open-label Safety Extension Completed NCT03533114 Phase 3 JZP-258;Placebo Oral Solution
2 A Randomized, Double-blind, Placebo-controlled Trial Comparing the Efficacy and Tolerance of Sodium Oxybate in Patients Affected With Idiopathic Hypersomnia Recruiting NCT03597555 Phase 2, Phase 3 Sodium Oxybate Oral Solution 500 MG/ML;Placebos
3 Clarithromycin for the Treatment of Hypersomnia Completed NCT01146600 Phase 2 Clarithromycin followed by placebo;Placebo then Clarithromycin
4 A Randomized, Placebo-Controlled, Double-blind, Fixed-Dose, Multiple Cohort, Multiple Crossover, Dose-Finding Study of Oral BTD-001 in Adults With Idiopathic Hypersomnia (IH) or Narcolepsy Type 2 Completed NCT02512588 Phase 2 BTD-001;Placebo
5 A Ten Subject, Double-Blind, Placebo-Controlled Trial of Single Day Dosing of Sublingual Flumazenil in Individuals With Primary Hypersomnia or Excessively Long Total Sleep Time and Excess Endogenous Potentiation of GABA-A Receptors Completed NCT01183312 Phase 1, Phase 2 Flumazenil
6 Informing Treatment Decisions in the Central Disorders of Hypersomnolence: A Pragmatic Clinical Trial of Modafinil Versus Amphetamines Recruiting NCT03772314 Phase 2 Modafinil;Amphetamine-Dextroamphetamine
7 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
8 A Randomized, Placebo-Controlled, Double-Blind, Crossover Study of Oral BTD-001 in Adults With Idiopathic Hypersomnia Active, not recruiting NCT03542851 Phase 2 Pentetrazol (PTZ);Placebo oral capsule
9 A Phase 1b Randomized, Double-Blind, Placebo-Controlled, Crossover Study of a Single Intravenous Infusion Dose of TAK-925 in Patients With Idiopathic Hypersomnia Completed NCT04091438 Phase 1 TAK-925;TAK-925 Placebo
10 Psychosocial Adjunctive Treatment for Hypersomnia (PATH): A Pilot Trial Completed NCT03904238
11 Cardiovascular Variability and Heart Rate Arousal Response in Idiopathic Hypersomnia Completed NCT02913651
12 The Role of the Circadian System in Neurological Sleep-wake Disorders: Assessment of Circadian and Homeostatic Sleep-wake Regulation and Vigilance With a Poly-nap Protocol Completed NCT03356938
13 Importance of Sleep Deprivation in Differential Diagnosis of Primary Hypersomnia in Reference Centers Rare Hypersomnia Completed NCT03459300
14 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
15 Anesthetic Management of Patients With Chronic Sleep Disorders Recruiting NCT04827329
16 Swiss Primary Hypersomnolence and Narcolepsy Cohort Study Recruiting NCT04330963

Search NIH Clinical Center for Idiopathic Hypersomnia

Genetic Tests for Idiopathic Hypersomnia

Anatomical Context for Idiopathic Hypersomnia

MalaCards organs/tissues related to Idiopathic Hypersomnia:

40
Brain, Eye, Pituitary

Publications for Idiopathic Hypersomnia

Articles related to Idiopathic Hypersomnia:

(show top 50) (show all 324)
# Title Authors PMID Year
1
Idiopathic Hypersomnia. 20 61
28778232 2017
2
Hypersomnia: Evaluation, Treatment, and Social and Economic Aspects. 20 61
28159097 2017
3
Idiopathic Hypersomnia and Hypersomnolence Disorder: A Systematic Review of the Literature. 61 20
26895727 2016
4
Body mass index-independent metabolic alterations in narcolepsy with cataplexy. 61 54
19928388 2009
5
Prevalence of the HLA-DQB1*0602 allele in narcolepsy and idiopathic hypersomnia patients seen at a sleep disorders outpatient unit in São Paulo. 54 61
19506770 2009
6
CSF histamine contents in narcolepsy, idiopathic hypersomnia and obstructive sleep apnea syndrome. 54 61
19238805 2009
7
DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. 61 54
17207713 2007
8
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. 54 61
14638887 2003
9
CSF hypocretin-1 (orexin-A) concentrations in narcolepsy with and without cataplexy and idiopathic hypersomnia. 54 61
11869432 2002
10
Actigraphy measurement of physical activity and energy expenditure in narcolepsy type 1, narcolepsy type 2 and idiopathic hypersomnia: A Sensewear Armband study. 61
32281246 2021
11
Idiopathic hypersomnia: a homogeneous or heterogeneous disease? 61
33588261 2021
12
Evaluation of pathological sleepiness by Multiple Sleep Latency Test and 24-hour polysomnography in patients suspected of idiopathic hypersomnia. 61
33448529 2021
13
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene. 61
33474825 2021
14
Efficacy and safety of modafinil in patients with idiopathic hypersomnia without long sleep time: a multicenter, randomized, double-blind, placebo-controlled, parallel-group comparison study. 61
33631500 2021
15
Treatment of severe morning sleep inertia with bedtime long-acting bupropion and/or long-acting methylphenidate in a series of 4 patients. 61
33179592 2021
16
Automatic analysis of single-channel sleep EEG in a large spectrum of sleep disorders. 61
33089777 2021
17
Multiple sleep latency test and polysomnography in patients with central disorders of hypersomnolence. 61
33453460 2021
18
Microsleep assessment enhances interpretation of the Maintenance of Wakefulness Test. 61
33729911 2021
19
Multiple Sleep Latency Test: when are 4 naps enough? 61
33146124 2021
20
Microsleep assessment enhances interpretation of the Maintenance of Wakefulness Test. 61
33715771 2021
21
Regional brain metabolism differentiates narcolepsy type 1 and idiopathic hypersomnia. 61
33693888 2021
22
Autonomic dysfunction in childhood hypersomnia disorders. 61
33385777 2021
23
Maintenance of wakefulness test: how does it predict accident risk in patients with sleep disorders? 61
32778442 2021
24
Compromised Dynamic Cerebral Autoregulation in Patients With Central Disorders of Hypersomnolence. 61
33776891 2021
25
On-the-road driving performance of patients with central disorders of hypersomnolence. 61
33543997 2021
26
Cerebrospinal fluid monoamine levels in central hypersomnolence disorders. 61
33476396 2021
27
Stability of Nocturnal Wake and Sleep Stages Defines CNS Disorders of Hypersomnolence. 61
33512510 2021
28
Bedřich Roth: pioneer in sleep medicine. 61
33221544 2020
29
Developing a cognitive behavioral therapy for hypersomnia using telehealth: a feasibility study. 61
32804069 2020
30
Quality of life and procrastination in post-H1N1 narcolepsy, sporadic narcolepsy and idiopathic hypersomnia, a Swedish cross-sectional study. 61
33152582 2020
31
Lipocalin-type prostaglandin D synthase levels increase in patients with narcolepsy and idiopathic hypersomnia. 61
33175978 2020
32
Disease symptomatology and response to treatment in people with idiopathic hypersomnia: initial data from the Hypersomnia Foundation registry. 61
32950878 2020
33
Characteristics associated with hypersomnia and excessive daytime sleepiness identified by extended polysomnography recording. 61
33249509 2020
34
Development and validation of the hypersomnia-specific beliefs scale. 61
32862014 2020
35
A circadian mechanism for idiopathic hypersomnia - a long biological night. 61
32836183 2020
36
Defining disrupted nighttime sleep and assessing its diagnostic utility for pediatric narcolepsy type 1. 61
32253429 2020
37
A patient's view on reclassifying idiopathic hypersomnia to narcolepsy type-3. 61
32691069 2020
38
Observation and Interview-based Diurnal Sleepiness Inventory for measurement of sleepiness in patients referred for narcolepsy or idiopathic hypersomnia. 61
32406372 2020
39
Sleep disorders in myotonic dystrophies. 61
32212331 2020
40
Excessive daytime sleepiness in cancer patients. 61
32939599 2020
41
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat. 61
32993765 2020
42
Idiopathic Hypersomnia and Other Hypersomnia Syndromes. 61
32901432 2020
43
Central Disorders of Hypersomnolence. 61
32756227 2020
44
Neuroimaging of Narcolepsy and Primary Hypersomnias. 61
32111133 2020
45
Diagnosis of central disorders of hypersomnolence: A reappraisal by European experts. 61
32311642 2020
46
Prevalence of narcolepsy and other sleep disorders and frequency of diagnostic tests from 2013-2016 in insured patients actively seeking care. 61
32807293 2020
47
To split or to lump? Classifying the central disorders of hypersomnolence. 61
32193539 2020
48
Pharmacologic Management of Excessive Daytime Sleepiness. 61
32386693 2020
49
Excessive daytime sleepiness in narcolepsy and central nervous system hypersomnias. 61
31154621 2020
50
Blackout of my nights: Contentless, timeless and selfless report from the night in patients with central hypersomnias. 61
32339976 2020

Variations for Idiopathic Hypersomnia

Expression for Idiopathic Hypersomnia

Search GEO for disease gene expression data for Idiopathic Hypersomnia.

Pathways for Idiopathic Hypersomnia

Pathways related to Idiopathic Hypersomnia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.94 HLA-DRB1 HLA-DQB1
2
Show member pathways
11.9 HLA-DRB1 HLA-DQB1
3 11.88 HLA-DRB1 HLA-DQB1
4
Show member pathways
11.8 HLA-DRB1 HLA-DQB1
5 11.77 HLA-DRB1 HLA-DQB1
6
Show member pathways
11.73 HLA-DRB1 HLA-DQB1
7 11.66 HLA-DRB1 HLA-DQB1
8 11.61 HLA-DRB1 HLA-DQB1
9 11.44 HLA-DRB1 HLA-DQB1
10
Show member pathways
11.44 HLA-DRB1 HLA-DQB1
11 11.38 HLA-DRB1 HLA-DQB1
12 11.32 HLA-DRB1 HLA-DQB1
13 11.24 HLA-DRB1 HLA-DQB1
14 11.12 HLA-DRB1 HLA-DQB1
15 10.81 HLA-DRB1 HLA-DQB1
16
Show member pathways
10.58 HLA-DRB1 HLA-DQB1

GO Terms for Idiopathic Hypersomnia

Cellular components related to Idiopathic Hypersomnia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 9.4 HLA-DRB1 HLA-DQB1
2 endocytic vesicle membrane GO:0030666 9.37 HLA-DRB1 HLA-DQB1
3 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DRB1 HLA-DQB1
4 transport vesicle membrane GO:0030658 9.26 HLA-DRB1 HLA-DQB1
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DRB1 HLA-DQB1
6 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DRB1 HLA-DQB1
7 MHC class II protein complex GO:0042613 8.62 HLA-DRB1 HLA-DQB1

Biological processes related to Idiopathic Hypersomnia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.4 HLA-DRB1 HLA-DQB1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.37 HLA-DRB1 HLA-DQB1
3 interferon-gamma-mediated signaling pathway GO:0060333 9.32 HLA-DRB1 HLA-DQB1
4 antigen processing and presentation GO:0019882 9.26 HLA-DRB1 HLA-DQB1
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.16 HLA-DRB1 HLA-DQB1
6 humoral immune response mediated by circulating immunoglobulin GO:0002455 8.96 HLA-DRB1 HLA-DQB1
7 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 8.62 HLA-DRB1 HLA-DQB1

Molecular functions related to Idiopathic Hypersomnia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 8.96 HLA-DRB1 HLA-DQB1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DRB1 HLA-DQB1

Sources for Idiopathic Hypersomnia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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