MCID: KLN002
MIFTS: 47

Kleine-Levin Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Kleine-Levin Syndrome

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NINDS:43 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.

MalaCards based summary: Kleine-Levin Syndrome, also known as kleine-levin hibernation syndrome, is related to narcolepsy and multiple sclerosis, and has symptoms including An important gene associated with Kleine-Levin Syndrome is HCRT (hypocretin (orexin) neuropeptide precursor), and among its related pathways are Allograft rejection and Epstein-Barr virus infection. The compounds c-peptide and tyrosine have been mentioned in the context of this disorder. Affiliated tissues include brain, thalamus and hypothalamus, and related mouse phenotype muscle.

Disease Ontology:8 A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.

NIH Rare Diseases:42 Kleine levin syndrome is a rare disorder characterized by episodes of excessive sleep. 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 associated with flu-like symptoms. during an episode, people with kleine levin syndrome can also display abnormal behavior, such as excessive food intake, irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive. affected individuals do not experience any of these features between episodes, and they may not be able to remember everything that happened during an episode. the time between episodes varies among individuals with this condition. kleine levin syndrome primarily affects adolescent males, but it also affects females. it may be caused by abnormal function of the hypothalamus and thalamus, parts of the brain that control appetite and sleep. episodes usually decrease in frequency and intensity after about eight to 12 years. last updated: 3/2/2010

Wikipedia:65 Kleine-Levin syndrome (KLS) is a rare sleep disorder characterized by persistent episodic hypersomnia... more...

Description from OMIM:46 148840

Aliases & Classifications for Kleine-Levin Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Kleine-Levin Syndrome, Aliases & Descriptions:

Name: Kleine-Levin Syndrome 8 43 10 48 46 62
Kleine-Levin Hibernation Syndrome 42 62
Familial Kleine-Levin Syndrome 42 62
 
Familial Hibernation Syndrome 42
Kleine Levin Syndrome 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

48
kleine-levin syndrome:
Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood


External Ids:

Disease Ontology8 DOID:0060165
OMIM46 148840
MESH via Orphanet35 D017593
ICD10 via Orphanet26 G47.8
UMLS via Orphanet63 C0206085

Related Diseases for Kleine-Levin Syndrome

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



Diseases related to kleine-levin syndrome

Symptoms for Kleine-Levin Syndrome

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Symptoms by clinical synopsis from OMIM:

148840

Clinical features from OMIM:

148840

HPO human phenotypes related to Kleine-Levin Syndrome:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 confusion HP:0001289
3 polyphagia HP:0002591
4 vivid hallucinations HP:0006803
5 episodic hypersomnia HP:0007200

Drugs & Therapeutics for Kleine-Levin Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Kleine-Levin Syndrome

Genetic Tests for Kleine-Levin Syndrome

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Anatomical Context for Kleine-Levin Syndrome

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MalaCards organs/tissues related to Kleine-Levin Syndrome:

32
Brain, Thalamus, Hypothalamus, Testes, Pituitary

Animal Models for Kleine-Levin Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Kleine-Levin Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5RPS6KB2, HCRT, HLA-DQB1

Publications for Kleine-Levin Syndrome

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Articles related to Kleine-Levin Syndrome:

(show top 50)    (show all 171)
idTitleAuthorsYear
1
Feeling unreal: a functional imaging study in patients with Kleine-Levin syndrome. (24785943)
2014
2
Functional magnetic resonance imaging in narcolepsy and the kleine-levin syndrome. (25009530)
2014
3
Treatment of kleine-levin syndrome with acetazolamide. (25317098)
2014
4
Transient Kleine-Levin syndrome following a neuroendoscopic procedure. (25093792)
2014
5
GAD65 autoantibodies in Kleine-Levin syndrome. (24763794)
2014
6
Widespread hypermetabolism in symptomatic and asymptomatic episodes in Kleine-Levin syndrome. (24699677)
2014
7
Kleine-Levin syndrome with brain atrophy. (23664128)
2013
8
Kleine-levin syndrome treated with clarithromycin. (24235906)
2013
9
Diagnosis, disease course, and management of patients with Kleine-Levin syndrome. (22995695)
2012
10
Kleine Levin syndrome in Malaysia: first typical case. (22605587)
2012
11
Kleine-Levin syndrome: the first typical case in Thailand. (21280539)
2010
12
Onset of Kleine-Levin Syndrome in association with isotretinoin treatment. (20163374)
2010
13
Working memory in 8 Kleine-Levin syndrome patients: an fMRI study. (19480235)
2009
14
A case of Kleine-Levin syndrome with a complete and sustained response to carbamazepine. (19447193)
2009
15
Lower dopamine transporter density in an asymptomatic patient with Kleine-Levin syndrome. (18028505)
2008
16
Kleine-Levin syndrome: interface between neurology and psychiatry. (17420845)
2007
17
Posttraumatic Kleine-Levin syndrome. (16950384)
2006
18
Kleine-Levin syndrome: a systematic review of 186 cases in the literature. (16230322)
2005
19
The Kleine-Levin syndrome - effects of treatment with lithium -. (12910433)
2003
20
Short-term memory dysfunction in Kleine-Levin syndrome. (14616308)
2003
21
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. (14638887)
2003
22
Kleine-Levin syndrome following acute non-specific encephalitis. (12061684)
2002
23
Kleine-Levin syndrome and encephalitis. (12503672)
2002
24
Clinical and polysomnographic characteristics of 34 patients with Kleine-Levin syndrome. (11903864)
2001
25
Kleine-levin syndrome : a report of two cases. (21407869)
2001
26
A case report of Kleine-Levin syndrome in an adolescent girl. (11496026)
2001
27
Neuropsychological sequelae in Kleine-Levin syndrome: case report. (10920418)
2000
28
Multiple sleep latency test and polysomnography in diagnosing Kleine-Levin syndrome and periodic hypersomnia. (11085556)
2000
29
Treatment of Kleine-Levin syndrome: melatonin on the starting block. (10817108)
2000
30
Light therapy for Kleine-Levin syndrome. (9847495)
1998
31
Valproic acid for Kleine-Levin syndrome. (9204661)
1997
32
Kleine-Levin syndrome--a case report with a brief review. (9251261)
1996
33
Kleine-Levin syndrome in a boy with Prader-Willi syndrome. (8650457)
1996
34
Kleine-Levin syndrome: a cause of diagnostic confusion. (7979534)
1994
35
Clinical features of Kleine-Levin syndrome with localized encephalitis. (8309520)
1993
36
Clinical use of moclobemide in Kleine-Levin syndrome. (1422635)
1992
37
Neuroendocrine evaluation in Kleine-Levin syndrome: evidence of reduced dopaminergic tone during periods of hypersomnolence. (1654588)
1991
38
Kleine-Levin syndrome: report of two cases with onset of symptoms precipitated by head trauma. (3139128)
1988
39
Kleine-levin syndrome: a case report from India. (6956423)
1982
40
A pathologic basis for Kleine-Levin syndrome. (6948538)
1982
41
Electrophysiological changes during episodes of the Kleine-Levin syndrome. (176325)
1975
42
The Kleine-Levin syndrome. Case report and review of the literature. (4814887)
1974
43
Periodic megaphagia and hypersomnia--an example of the Kleine-Levin syndrome in an adolescent girl. (4719411)
1973
44
A case of Kleine-Levin syndrome. (4721371)
1973
45
Kleine-Levin syndrome. A case with EEG evidence of periodic brain dysfunction. (5262037)
1970
46
A case of Kleine-Levin syndrome in India. (5480699)
1970
47
Psychopathological investigation of a case of periodic hypersomnia and Bulimia (Kleine-Levin syndrome). (5235707)
1967
48
Kleine-Levin syndrome: report of a case. (6017827)
1967
49
The Kleine-Levin syndrome. Some further observations. (5295527)
1965
50
The Kleine-Levin syndrome: hypersomnia, bulimia, and abnormal mental states. (13896459)
1962

Variations for Kleine-Levin Syndrome

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Expression for genes affiliated with Kleine-Levin Syndrome

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Expression patterns in normal tissues for genes affiliated with Kleine-Levin Syndrome

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

Pathways for genes affiliated with Kleine-Levin Syndrome

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Pathways related to Kleine-Levin Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1HLA-DRB1, HLA-DQB1
29.1HLA-DRB1, HLA-DQB1
39.1HLA-DQB1, HLA-DRB1
4
Show member pathways
9.1HLA-DRB1, HLA-DQB1
5
Show member pathways
9.1HLA-DQB1, HLA-DRB1
69.1HLA-DRB1, HLA-DQB1
7
Show member pathways
9.1HLA-DRB1, HLA-DQB1
8
Show member pathways
9.1HLA-DRB1, HLA-DQB1
9
Show member pathways
9.1HLA-DRB1, HLA-DQB1
10
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
9.1HLA-DQB1, HLA-DRB1
119.1HLA-DQB1, HLA-DRB1
129.1HLA-DRB1, HLA-DQB1
13
Show member pathways
9.1HLA-DRB1, HLA-DQB1
149.1HLA-DRB1, HLA-DQB1
15
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
9.1HLA-DQB1, HLA-DRB1
169.1HLA-DRB1, HLA-DQB1
17
Show member pathways
9.1HLA-DQB1, HLA-DRB1
18
Show member pathways
9.1HLA-DRB1, HLA-DQB1
19
Show member pathways
9.1HLA-DRB1, HLA-DQB1
209.1HLA-DRB1, HLA-DQB1
21
Show member pathways
8.5HLA-DQB1, HLA-DRB1, RPS6KB2

Compounds for genes affiliated with Kleine-Levin Syndrome

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Sources:
44Novoseek
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Compounds related to Kleine-Levin Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1c-peptide449.4HCRT, HLA-DRB1
2tyrosine448.6HCRT, HLA-DRB1, HLA-DQB1
3oligonucleotide448.5HCRT, HLA-DRB1, HLA-DQB1
4glutamate448.3HLA-DQB1, HLA-DRB1, HCRT

GO Terms for genes affiliated with Kleine-Levin Syndrome

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Cellular components related to Kleine-Levin Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.3HLA-DRB1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:0715569.3HLA-DRB1, HLA-DQB1
3clathrin-coated endocytic vesicle membraneGO:0306699.2HLA-DRB1, HLA-DQB1
4transport vesicle membraneGO:0306589.2HLA-DRB1, HLA-DQB1
5ER to Golgi transport vesicle membraneGO:0125079.1HLA-DQB1, HLA-DRB1
6lysosomal membraneGO:0057659.1HLA-DRB1, HLA-DQB1
7trans-Golgi network membraneGO:0325889.0HLA-DRB1, HLA-DQB1
8endocytic vesicle membraneGO:0306668.8HLA-DRB1, HLA-DQB1

Biological processes related to Kleine-Levin Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.3HLA-DRB1, HLA-DQB1
2humoral immune response mediated by circulating immunoglobulinGO:0024559.3HLA-DRB1, HLA-DQB1
3interferon-gamma-mediated signaling pathwayGO:0603339.2HLA-DRB1, HLA-DQB1
4T cell costimulationGO:0312959.2HLA-DRB1, HLA-DQB1
5T cell receptor signaling pathwayGO:0508529.1HLA-DQB1, HLA-DRB1
6immune responseGO:0069559.1HLA-DRB1, HLA-DQB1
7antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.0HLA-DRB1, HLA-DQB1
8cytokine-mediated signaling pathwayGO:0192218.8HLA-DRB1, HLA-DQB1

Molecular functions related to Kleine-Levin Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:0323959.1HLA-DRB1, HLA-DQB1

Products for genes affiliated with Kleine-Levin Syndrome

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  • Antibodies
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  • Lysates

Sources for Kleine-Levin Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet