MCID: KLN009
MIFTS: 40

Kleine-Levin Hibernation Syndrome

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kleine-Levin Hibernation Syndrome

MalaCards integrated aliases for Kleine-Levin Hibernation Syndrome:

Name: Kleine-Levin Hibernation Syndrome 56 52
Kleine-Levin Syndrome 56 12 74 53 58 43 15 17 71
Familial Kleine-Levin Syndrome 52 71
Familial Hibernation Syndrome 52
Kleine Levin Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
kleine-levin syndrome
Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Adult,Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
kleine-levin hibernation syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060165
OMIM 56 148840
MeSH 43 D017593
MESH via Orphanet 44 D017593
ICD10 via Orphanet 33 G47.8
UMLS via Orphanet 72 C0206085
Orphanet 58 ORPHA33543
MedGen 41 C0206085
UMLS 71 C0206085 C2936703

Summaries for Kleine-Levin Hibernation Syndrome

NIH Rare Diseases : 52 Kleine Levin syndrome is a rare disorder characterized by recurrent episodes of excessive sleep (hypersomnia) along with cognitive and behavioral changes. Affected individuals may sleep for up to 20 hours per day during an episode. These episodes usually last for a few days to a few weeks. An episode may start abruptly and is sometimes preceded by an upper-respiratory-type infection. During an episode, people with Kleine Levin syndrome can also display abnormal behavior, such as excessive food intake (hyperphagia), irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive. Affected individuals are symptom-free between episodes. The time between episodes varies. Kleine Levin syndrome primarily affects adolescent males, but it also affects females and individuals of other ages. The underlying cause of this condition is unknown. Episodes tend to decrease with advancing age. There are no consistently effective therapies, although stimulants (modafinil, methylphenidate, amphetamine) and mood stabilizers (lithium) may be prescribed with varying results.

MalaCards based summary : Kleine-Levin Hibernation Syndrome, also known as kleine-levin syndrome, is related to hypersomnia and idiopathic hypersomnia. An important gene associated with Kleine-Levin Hibernation Syndrome is HCRT (Hypocretin Neuropeptide Precursor), and among its related pathways/superpathways is Monoamine Transport. The drugs Technetium Tc 99m bicisate and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include thalamus, brain and testes, and related phenotypes are confusion and polyphagia

Disease Ontology : 12 A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.

OMIM : 56 The Kleine-Levin hibernation syndrome, a rare disorder that occurs predominantly in males, is characterized by episodic attacks of aberrant behavior, hypersomnia, and increased feeding (megaphagia) and sex drives (Kleine, 1925; Levin, 1929). (148840)

NINDS : 53 Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male). It is characterized by recurring but reversible periods of excessive sleep (up to 20 hours per day). Symptoms occur as "episodes," typically lasting a few days to a few weeks. Episode onset is often abrupt, and may be associated with flu-like symptoms. Excessive food intake, irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive may be observed during episodes. Mood can be depressed as a consequence, but not a cause, of the disorder. Affected individuals are completely normal between episodes, although they may not be able to remember afterwards everything that happened during the episode. It may be weeks or more before symptoms reappear. Symptoms may be related to malfunction of the hypothalamus and thalamus, parts of the brain that govern appetite and sleep.

Wikipedia : 74 Kleine-Levin syndrome (KLS) is a rare sleep disorder characterized by persistent episodic hypersomnia... more...

Related Diseases for Kleine-Levin Hibernation Syndrome

Diseases related to Kleine-Levin Hibernation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 hypersomnia 32.3 HLA-DQB1 HCRT
2 idiopathic hypersomnia 31.0 HLA-DQB1 HCRT
3 sleep disorder 30.5 SLC6A3 HRH3 HCRT GABRR3
4 rem sleep behavior disorder 30.4 SLC6A3 HCRT
5 eating disorder 30.1 SLC6A3 HCRT
6 narcolepsy 29.8 TPH1 SLC6A3 HLA-DQB1 HCRT
7 mental depression 29.6 TPH1 SLC6A3
8 anxiety 29.4 TPH1 SLC6A3 HCRT
9 recurrent hypersomnia 28.9 TOR1B SLC6A3 RPS6KB2 LMOD3 HRH3 HLA-DQB1
10 migraine with or without aura 1 28.5 TPH1 SLC6A3 HRH3 HCRT GABRR3
11 schizophrenia 28.4 TPH1 SLC6A3 HRH3 HLA-DQB1 HCRT
12 rare sleep disorder 10.8
13 mood disorder 10.6
14 encephalitis 10.6
15 amnestic disorder 10.6
16 major affective disorder 8 10.5
17 major affective disorder 9 10.5
18 sleep apnea 10.5
19 bipolar disorder 10.5
20 encephalopathy 10.5
21 prader-willi syndrome 10.4
22 autism 10.4
23 bipolar i disorder 10.4
24 psychotic disorder 10.4
25 head injury 10.4
26 narcolepsy 2 10.3 HLA-DQB1 HCRT
27 narcolepsy 1 10.3 HLA-DQB1 HCRT
28 neurofibromatosis, type ii 10.2
29 spondyloarthropathy 1 10.2
30 autoimmune disease 10.2
31 holt-oram syndrome 10.2
32 body mass index quantitative trait locus 1 10.2
33 allergic rhinitis 10.2
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
35 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.2
36 deficiency anemia 10.2
37 autism spectrum disorder 10.2
38 migraine with aura 10.2
39 tonsillitis 10.2
40 nasopharyngitis 10.2
41 hydrocephalus 10.2
42 depersonalization disorder 10.2
43 iron deficiency anemia 10.2
44 allergic hypersensitivity disease 10.2
45 inflammatory spondylopathy 10.2
46 pica disease 10.2
47 dysthymic disorder 10.2
48 hypothyroidism 10.2
49 normal pressure hydrocephalus 10.2
50 endogenous depression 10.2

Graphical network of the top 20 diseases related to Kleine-Levin Hibernation Syndrome:



Diseases related to Kleine-Levin Hibernation Syndrome

Symptoms & Phenotypes for Kleine-Levin Hibernation Syndrome

Human phenotypes related to Kleine-Levin Hibernation Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 confusion 31 HP:0001289
2 polyphagia 31 HP:0002591
3 vivid hallucinations 31 HP:0006803
4 episodic hypersomnia 31 HP:0007200

Symptoms via clinical synopsis from OMIM:

56
Neuro:
vivid hallucinations
episodic hypersomnia
disorientation
episodic attacks of aberrant behavior
compulsive hyperphagia
more
Misc:
predominantly males

Clinical features from OMIM:

148840

MGI Mouse Phenotypes related to Kleine-Levin Hibernation Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 HCRT HLA-DQB1 HRH3 LMOD3 RPS6KB2 TPH1
2 growth/size/body region MP:0005378 9.7 HCRT HLA-DQB1 HRH3 LMOD3 RPS6KB2 SLC6A3
3 homeostasis/metabolism MP:0005376 9.5 HCRT HLA-DQB1 HRH3 LMOD3 RPS6KB2 SLC6A3
4 muscle MP:0005369 9.1 HCRT HLA-DQB1 LMOD3 RPS6KB2 SLC6A3 TPH1

Drugs & Therapeutics for Kleine-Levin Hibernation Syndrome

Drugs for Kleine-Levin Hibernation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Technetium Tc 99m bicisate
2 Radiopharmaceuticals

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Brain Scintigraphy in Normal Versus Kleine-Levin Syndrome Subjects Completed NCT02337023
2 Constitution of a Clinical, Neurophysiological and Biological Cohort for Chronic Sleep Disorders Responsible of Hypersomnolence Recruiting NCT03998020
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Kleine-Levin Hibernation Syndrome

Cochrane evidence based reviews: kleine-levin syndrome

Genetic Tests for Kleine-Levin Hibernation Syndrome

Anatomical Context for Kleine-Levin Hibernation Syndrome

MalaCards organs/tissues related to Kleine-Levin Hibernation Syndrome:

40
Thalamus, Brain, Testes, Hypothalamus, T Cells, Pituitary, Eye

Publications for Kleine-Levin Hibernation Syndrome

Articles related to Kleine-Levin Hibernation Syndrome:

(show top 50) (show all 358)
# Title Authors PMID Year
1
Kleine-Levin syndrome: a systematic study of 108 patients. 61 56
18438947 2008
2
Polysomnography in Kleine-Levin syndrome. 61 56
18316691 2008
3
Kleine-Levin syndrome: history and brief review. 61 56
18667831 2008
4
Episodic diencephalic hypoperfusion in Kleine-Levin syndrome. 61 56
16944679 2006
5
Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic analyses. 61 56
12473762 2002
6
Familial Kleine-Levin syndrome: two siblings with unusually long hypersomnic spells. 61 56
12470186 2002
7
A pathologic basis for Kleine-Levin syndrome. 61 56
6948538 1982
8
Kleine-Levin Syndrome. 61 52
28216256 2018
9
Kleine-Levin Syndrome. 61 52
27137943 2016
10
Kleine-Levin Syndrome. 61 52
26055863 2015
11
Periodic hypersomnia and megaphagia in adolescent males. 56
14023898 1962
12
Usefulness of brain SPECT imaging in the study of recurrent hypersomnia: Kleine-Levin syndrome. 61
28869046 2019
13
Obstructive sleep apnoea with co existent Kleine-Levine syndrome in a middle-aged man. 61
31850697 2019
14
The Rare Sides of Twin Research: Important to Remember/Twin Research Reviews: Representation of Self-Image; Twins With Kleine-Levin Syndrome; Heteropaternal Lemur Twins; Risk of Dental Caries/In the Media: High-Society Models; 'Winkelevii' Super Bowl Twins; Multiple Birth × Three; Twin Sister Surrogate; A Presidential Twin? 61
31608853 2019
15
Excessive daytime sleepiness in narcolepsy and central nervous system hypersomnias. 61
31154621 2019
16
Kleine-Levin syndrome is associated with LMOD3 variants. 61
29923248 2019
17
The neurophysiological basis of excessive daytime sleepiness: suggestions of an altered state of consciousness. 61
31140116 2019
18
New-Onset Psychosis in a Child with Suspected Kleine-Levin Syndrome. 61
30843731 2019
19
[Sleep disorders in neurological department and Kleine-Levin syndrome]. 61
31464294 2019
20
An Atypical Case of Kleine-Levin Syndrome. 61
30664337 2019
21
Putative Mechanisms of Action and Clinical Use of Lithium in Children and Adolescents: A Critical Review. 61
29256353 2019
22
Clinical neurophysiology of CNS hypersomnias. 61
31307613 2019
23
Clinical Sleep-Wake Disorders I: Focus on Hypersomnias and Movement Disorders During Sleep. 61
30341725 2019
24
Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome. 61
30588389 2018
25
Emerging psychiatric disorders in Kleine-Levin syndrome. 61
29655261 2018
26
Sleeping beauty syndrome presenting with insomnia. 61
30317200 2018
27
Kleine-Levin syndrome: clues to aetiology. 61
29532411 2018
28
The clinical characteristics of Kleine-Levin syndrome according to ethnicity and geographic location. 61
29397778 2018
29
Fluctuating CSF hypocretin-1 levels in mild brain trauma-induced Kleine-Levin syndrome. 61
30103953 2018
30
Breathing abnormalities during sleep in Kleine-Levin Syndrome: fact or coincidence? 61
29553974 2018
31
Neuroimaging in the Kleine-Levin Syndrome. 61
30030664 2018
32
Kleine-Levin syndrome: the contribution of PET scan and hydrogen breath test for small intestinal bacterial overgrowth. 61
29773218 2018
33
[Kleine Levin syndrome: Review of diagnosed cases of Buenos Aires, Argentina]. 61
30778405 2018
34
Kleine-Levin syndrome: A neuropsychiatric disorder. 61
29606318 2018
35
IV steroids during long episodes of Kleine-Levin syndrome. 61
29572278 2018
36
The sleep architecture of Saudi Arabian patients with Kleine-Levin syndrome. 61
29332107 2018
37
A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge. 61
29436797 2018
38
Central Disorders of Hypersomnolence, Restless Legs Syndrome, and Surgery With General Anesthesia: Patient Perceptions. 61
29615884 2018
39
The "Known Unknowns" of Kleine-Levin Syndrome: A Review and Future Prospects. 61
28778233 2017
40
Kleine-Levin syndrome; An update and mini-review. 61
28434769 2017
41
Neuroimaging of Narcolepsy and Kleine-Levin Syndrome. 61
28778234 2017
42
[Kleine-Levin syndrome: immunogenetic hypothesis]. 61
28896006 2017
43
Kleine-Levin syndrome elicited by encephalopathy with reversible splenial lesion. 61
28804979 2017
44
Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome. 61
28629702 2017
45
Narcolepsy and Other Central Hypersomnias. 61
28777172 2017
46
Successful Long-term Management of a Child with Kleine-Levin Syndrome with Low-dose Lithium. 61
28852256 2017
47
Kleine-Levin syndrome: A neurological rarity. 61
28681768 2017
48
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. 61
27090505 2017
49
FDG Brain PET/CT Revealing Bilateral Thalamostriatal Activation During a Symptomatic Episode in a Patient With Kleine-Levin Syndrome. 61
28221196 2017
50
Sleeping Beauty Syndrome: A Case Report and Review of Female Cases Reported from India. 61
28615776 2017

Variations for Kleine-Levin Hibernation Syndrome

Expression for Kleine-Levin Hibernation Syndrome

Search GEO for disease gene expression data for Kleine-Levin Hibernation Syndrome.

Pathways for Kleine-Levin Hibernation Syndrome

Pathways related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.26 SLC6A3 HRH3

GO Terms for Kleine-Levin Hibernation Syndrome

Cellular components related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 8.8 TPH1 SLC6A3 GABRR3

Biological processes related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 8.8 HRH3 HCRT GABRR3

Sources for Kleine-Levin Hibernation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....