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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Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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 narcolepsy and multiple sclerosis. 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:43 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:47 148840

Aliases & Classifications for Kleine-Levin Syndrome

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Sources:
8Disease Ontology, 44NINDS, 10DISEASES, 49Orphanet, 47OMIM, 62UMLS, 43NIH Rare Diseases, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
kleine-levin syndrome:
Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

kleine-levin syndrome 8 44 10 49 47 62
familial kleine-levin syndrome 43 62
kleine-levin hibernation syndrome 43
familial hibernation syndrome 43
kleine levin syndrome 43


External Ids:

Disease Ontology8 DOID:0060165
OMIM47 148840
MESH via Orphanet36 D017593
ICD10 via Orphanet26 G47.8
SNOMED-CT via Orphanet59 111488004
UMLS via Orphanet63 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

Symptoms for Kleine-Levin Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

148840

Clinical features from OMIM:

148840

Drugs & Therapeutics for Kleine-Levin Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Kleine-Levin Syndrome

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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33MalaCards
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MalaCards organs/tissues related to Kleine-Levin Syndrome:

33
Brain, Thalamus, Hypothalamus, Testes, Pituitary

Animal Models for Kleine-Levin Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Kleine-Levin Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5RPS6KB2, HCRT, HLA-DQB1

Publications for Kleine-Levin Syndrome

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Sources:
52PubMed
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Articles related to Kleine-Levin Syndrome:

(show top 50)    (show all 156)
idTitleAuthorsYear
1
Kleine-Levin syndrome with brain atrophy. (23664128)
2013
2
Kleine-levin syndrome treated with clarithromycin. (24235906)
2013
3
Diagnosis, disease course, and management of patients with Kleine-Levin syndrome. (22995695)
2012
4
Kleine Levin syndrome in Malaysia: first typical case. (22605587)
2012
5
Treatment of Kleine-Levin syndrome with sodium oxybate. (21763197)
2011
6
Kleine-Levin syndrome: the first typical case in Thailand. (21280539)
2010
7
Onset of Kleine-Levin Syndrome in association with isotretinoin treatment. (20163374)
2010
8
Kleine-Levin syndrome: current status. (20451032)
2010
9
Working memory in 8 Kleine-Levin syndrome patients: an fMRI study. (19480235)
2009
10
A case of Kleine-Levin syndrome with a complete and sustained response to carbamazepine. (19447193)
2009
11
Lower dopamine transporter density in an asymptomatic patient with Kleine-Levin syndrome. (18028505)
2008
12
Kleine-Levin syndrome: interface between neurology and psychiatry. (17420845)
2007
13
Posttraumatic Kleine-Levin syndrome. (16950384)
2006
14
Kleine-Levin syndrome: a systematic review of 186 cases in the literature. (16230322)
2005
15
The Kleine-Levin syndrome - effects of treatment with lithium -. (12910433)
2003
16
Short-term memory dysfunction in Kleine-Levin syndrome. (14616308)
2003
17
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. (14638887)
2003
18
Kleine-Levin syndrome following acute non-specific encephalitis. (12061684)
2002
19
Kleine-Levin syndrome and encephalitis. (12503672)
2002
20
Clinical and polysomnographic characteristics of 34 patients with Kleine-Levin syndrome. (11903864)
2001
21
Kleine-levin syndrome : a report of two cases. (21407869)
2001
22
A case report of Kleine-Levin syndrome in an adolescent girl. (11496026)
2001
23
Neuropsychological sequelae in Kleine-Levin syndrome: case report. (10920418)
2000
24
Multiple sleep latency test and polysomnography in diagnosing Kleine-Levin syndrome and periodic hypersomnia. (11085556)
2000
25
Treatment of Kleine-Levin syndrome: melatonin on the starting block. (10817108)
2000
26
Light therapy for Kleine-Levin syndrome. (9847495)
1998
27
Valproic acid for Kleine-Levin syndrome. (9204661)
1997
28
A clinical study of Kleine-Levin syndrome with evidence for hypothalamic-pituitary axis dysfunction. (9270909)
1997
29
Kleine-Levin syndrome--a case report with a brief review. (9251261)
1996
30
Kleine-Levin syndrome in a boy with Prader-Willi syndrome. (8650457)
1996
31
Kleine-Levin syndrome: a cause of diagnostic confusion. (7979534)
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
Neuroendocrine evaluation in Kleine-Levin syndrome: evidence of reduced dopaminergic tone during periods of hypersomnolence. (1654588)
1991
35
The kleine-levin syndrome : review and report of two atypical cases. (21927438)
1990
36
Kleine-Levin syndrome: report of two cases with onset of symptoms precipitated by head trauma. (3139128)
1988
37
Kleine-Levin syndrome: unrecognized diagnosis in adolescent psychiatry. (3478332)
1987
38
Kleine-levin syndrome: a case report from India. (6956423)
1982
39
A pathologic basis for Kleine-Levin syndrome. (6948538)
1982
40
Electrophysiological changes during episodes of the Kleine-Levin syndrome. (176325)
1975
41
The Kleine-Levin syndrome. Case report and review of the literature. (4814887)
1974
42
Periodic megaphagia and hypersomnia--an example of the Kleine-Levin syndrome in an adolescent girl. (4719411)
1973
43
A case of Kleine-Levin syndrome. (4721371)
1973
44
A case of Kleine-Levin syndrome in India. (5480699)
1970
45
Kleine-Levin syndrome: an atypical case? (5522533)
1970
46
A female case of the Kleine-Levin Syndrome. (5236057)
1968
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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2BioGPS, 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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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 55Reactome, 60Thomson Reuters
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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-DQB1, HLA-DRB1
29.1HLA-DRB1, HLA-DQB1
39.1HLA-DQB1, HLA-DRB1
4
Show member pathways
9.1HLA-DQB1, HLA-DRB1
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-DRB1, HLA-DQB1
119.1HLA-DRB1, HLA-DQB1
129.1HLA-DQB1, HLA-DRB1
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-DRB1, HLA-DQB1
169.1HLA-DQB1, HLA-DRB1
17
Show member pathways
9.1HLA-DQB1, HLA-DRB1
18
Show member pathways
9.1HLA-DRB1, HLA-DQB1
19
Show member pathways
9.1HLA-DQB1, HLA-DRB1
209.1HLA-DQB1, HLA-DRB1
21
Show member pathways
8.5RPS6KB2, HLA-DRB1, HLA-DQB1

Compounds for genes affiliated with Kleine-Levin Syndrome

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45Novoseek
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Compounds related to Kleine-Levin Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1c-peptide459.4HLA-DRB1, HCRT
2tyrosine458.6HLA-DQB1, HLA-DRB1, HCRT
3oligonucleotide458.5HLA-DQB1, HLA-DRB1, HCRT
4glutamate458.3HLA-DQB1, HLA-DRB1, HCRT

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-DQB1, HLA-DRB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:0715569.3HLA-DQB1, HLA-DRB1
3clathrin-coated endocytic vesicle membraneGO:0306699.2HLA-DQB1, HLA-DRB1
4transport vesicle membraneGO:0306589.2HLA-DQB1, HLA-DRB1
5ER to Golgi transport vesicle membraneGO:0125079.1HLA-DRB1, HLA-DQB1
6lysosomal membraneGO:0057659.1HLA-DQB1, HLA-DRB1
7trans-Golgi network membraneGO:0325889.0HLA-DQB1, HLA-DRB1
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
  • Proteins
  • Lysates
  • Antibodies

Sources for Kleine-Levin Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet