MCID: KLN002
MIFTS: 44

Kleine-Levin Syndrome malady

Neuronal diseases, Genetic diseases categories

Summaries for Kleine-Levin Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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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: Kleine-Levin Syndrome, also known as familial kleine-levin syndrome, is related to multiple sclerosis and narcolepsy. An important gene associated with Kleine-Levin Syndrome is HCRT (hypocretin (orexin) neuropeptide precursor), and among its related pathways are CD28 co-stimulation and Immune response ICOS pathway in T-helper cell. The compounds c-peptide and glutamate have been mentioned in the context of this disorder. Affiliated tissues include brain, thalamus and hypothalamus.

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:63 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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8Disease Ontology, 43NINDS, 10DISEASES, 48Orphanet, 46OMIM, 60UMLS, 42NIH Rare Diseases, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

kleine-levin syndrome 8 43 10 48 46 60
familial kleine-levin syndrome 42 60
kleine-levin hibernation syndrome 42
familial hibernation syndrome 42
kleine levin syndrome 42


External Ids:

Disease Ontology8 DOID:0060165
OMIM46 148840
MESH via Orphanet35 D017593
ICD10 via Orphanet26 G47.8
SNOMED-CT via Orphanet57 111488004
UMLS via Orphanet61 C0206085

Related Diseases for Kleine-Levin Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Kleine-Levin Syndrome:



Diseases related to kleine-levin syndrome

Clinical Features for Kleine-Levin Syndrome

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46OMIM
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Clinical features from OMIM:

148840

Clinical synopsis from OMIM:

148840

Drugs & Therapeutics for Kleine-Levin Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Kleine-Levin Syndrome

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Anatomical Context for Kleine-Levin Syndrome

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32MalaCards
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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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Publications for Kleine-Levin Syndrome

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50PubMed
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Articles related to Kleine-Levin Syndrome:

(show top 50)    (show all 158)
idTitleAuthorsYear
1
Pharmacological treatment for Kleine-Levin syndrome. (23945927)
2013
2
Low thalamic NAA-concentration corresponds to strong neural activation in working memory in Kleine-Levin syndrome. (23451038)
2013
3
Diagnosis, disease course, and management of patients with Kleine-Levin syndrome. (22995695)
2012
4
PET finding in Kleine-Levin syndrome. (22425440)
2012
5
Distribution of HLA-DQB1 alleles in patients with Kleine-Levin syndrome. (22285112)
2012
6
Kleine-levin syndrome and idiopathic hypersomnia: spectrum disorders. (22345850)
2011
7
A case of Kleine-Levin syndrome. (22164757)
2011
8
Kleine-Levin syndrome: the first typical case in Thailand. (21280539)
2010
9
Greater reduction of striatal dopamine transporter availability during the symptomatic than asymptomatic phase of Kleine-Levin syndrome. (20447863)
2010
10
Modafinil-associated vivid visual hallucination in a patient with Kleine-Levin syndrome: case report. (20473083)
2010
11
A case of Kleine-Levin syndrome with a complete and sustained response to carbamazepine. (19447193)
2009
12
Kleine-Levin syndrome. (19151238)
2009
13
A case of late-onset Kleine-Levin syndrome responding to lamotrigine. (18514022)
2009
14
Kleine-Levin syndrome. (19129573)
2008
15
Kleine-Levin syndrome: interface between neurology and psychiatry. (17420845)
2007
16
Kleine-Levin syndrome mimicking mania. (17450044)
2007
17
Kleine-Levin syndrome in a 14-year-old girl: CSF hypocretin-1 measurements. (17098473)
2006
18
Kleine-Levin syndrome. (15670527)
2005
19
Short-term memory dysfunction in Kleine-Levin syndrome. (14616308)
2003
20
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. (14638887)
2003
21
Photosensitivity during the hypersomnic phase in a patient with Kleine-Levin syndrome. (12886982)
2003
22
A case of Kleine-Levin syndrome examined with SPECT and neuropsychological testing. (11939946)
2002
23
Multiple sleep latency test and polysomnography in diagnosing Kleine-Levin syndrome and periodic hypersomnia. (11085556)
2000
24
The Kleine-Levin syndrome. Report of a case and review of the literature. (10951606)
2000
25
Carbamazepine for Kleine-Levin syndrome. (10405492)
1999
26
A variant of the Kleine-Levin syndrome following head trauma. (11568408)
1998
27
Kleine-Levin syndrome and Parkinsonian symptoms--a case report. (9619648)
1998
28
Kleine-Levin syndrome misdiagnosed as schizophrenia. (19698432)
1996
29
Kleine-Levin syndrome: a cause of diagnostic confusion. (7979534)
1994
30
Kleine-Levin syndrome. (8005368)
1994
31
Kleine-Levin syndrome: a case report. (7963618)
1994
32
Clinical features of Kleine-Levin syndrome with localized encephalitis. (8309520)
1993
33
Clinical use of moclobemide in Kleine-Levin syndrome. (1422635)
1992
34
Kleine-Levin syndrome: a case report. (1580874)
1992
35
Kleine-Levin syndrome in an 82 year old man. (1601635)
1992
36
Kleine-Levin syndrome ethiopathogenesis and treatment. (3078227)
1988
37
Kleine-Levin syndrome after multiple cerebral infarctions. (3481089)
1987
38
Episodic hormone secretion during sleep in Kleine-Levin syndrome: evidence for hypothalamic dysfunction. (3477962)
1987
39
Kleine-Levin syndrome following acute viral encephalitis. (3463365)
1986
40
Kleine-Levin syndrome: a case report. (3457017)
1986
41
Multiple Sleep Latency Test findings in Kleine-Levin syndrome. (6581275)
1984
42
Further observations on sleep abnormalities in Kleine-Levin syndrome: abnormal breathing pattern during sleep. (6166460)
1981
43
The Kleine-Levin syndrome. Case report and review of the literature. (4814887)
1974
44
Periodic megaphagia and hypersomnia--an example of the Kleine-Levin syndrome in an adolescent girl. (4719411)
1973
45
A case of Kleine-Levin syndrome in India. (5480699)
1970
46
A case of the Kleine-Levin syndrome of long duration. (5480700)
1970
47
The Kleine-Levin syndrome. Report of a case and discussion. (5478537)
1970
48
The Kleine-Levin syndrome. Some further observations. (5295527)
1965
49
The Kleine-Levin syndrome: hypersomnia, bulimia, and abnormal mental states. (13896459)
1962
50
Hypersomnia associated with abnormal hunger; the Kleine-Levin syndrome. (20997064)
1946

Genetic Variations for Kleine-Levin Syndrome

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Expression for genes affiliated with Kleine-Levin Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 51QIAGEN, 12EMD Millipore, 29KEGG
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Pathways related to Kleine-Levin Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1HLA-DRB1, HLA-DQB1
2
Immune response ICOS pathway in T-helper cell
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9.1HLA-DRB1, HLA-DQB1
3
Immune response NFAT in immune response
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9.1HLA-DRB1, HLA-DQB1
49.1HLA-DQB1, HLA-DRB1
59.1HLA-DRB1, HLA-DQB1
6
Hide members
9.1HLA-DRB1, HLA-DQB1
7
Immune response Antigen presentation by MHC class II
Hide members
9.1HLA-DRB1, HLA-DQB1
89.1HLA-DQB1, HLA-DRB1
99.1HLA-DRB1, HLA-DQB1
10
Hide members
9.1HLA-DRB1, HLA-DQB1
119.1HLA-DRB1, HLA-DQB1
129.1HLA-DQB1, HLA-DRB1
13
Hide members
9.1HLA-DRB1, HLA-DQB1
149.1HLA-DRB1, HLA-DQB1
15
Hide members
8.5HLA-DRB1, HLA-DQB1, RPS6KB2

Compounds for genes affiliated with Kleine-Levin Syndrome

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

idCompoundScoreTop Affiliating Genes
1c-peptide449.0HCRT, HLA-DRB1
2glutamate448.6HCRT, HLA-DRB1, HLA-DQB1
3oligonucleotide448.3HCRT, HLA-DRB1, HLA-DQB1

GO Terms for genes affiliated with Kleine-Levin Syndrome

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16Gene Ontology
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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
2clathrin-coated endocytic vesicle membraneGO:0306699.2HLA-DRB1, HLA-DQB1
3integral to lumenal side of endoplasmic reticulum membraneGO:0715569.2HLA-DRB1, HLA-DQB1
4transport vesicle membraneGO:0306589.1HLA-DQB1, HLA-DRB1
5endocytic vesicle membraneGO:0306669.1HLA-DRB1, HLA-DQB1
6ER to Golgi transport vesicle membraneGO:0125079.0HLA-DQB1, HLA-DRB1
7trans-Golgi network membraneGO:0325888.8HLA-DRB1, HLA-DQB1

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

idNameGO IDScoreTop Affiliating Genes
1immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.2HLA-DRB1, HLA-DQB1
2humoral immune response mediated by circulating immunoglobulinGO:0024559.2HLA-DRB1, HLA-DQB1
3interferon-gamma-mediated signaling pathwayGO:0603339.1HLA-DRB1, HLA-DQB1
4antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.1HLA-DRB1, HLA-DQB1
5T cell costimulationGO:0312959.0HLA-DQB1, HLA-DRB1
6T cell receptor signaling pathwayGO:0508528.8HLA-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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet