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
Kleine-levin syndrome treated with clarithromycin. (24235906)
2013
2
Kleine-Levin syndrome and bipolar disorder: a differential diagnosis of recurrent and resistant depression. (24034447)
2013
3
Kleine Levin syndrome in Malaysia: first typical case. (22605587)
2012
4
First attack of Kleine-Levin syndrome triggered by influenza B mimicking influenza-associated encephalopathy. (22728499)
2012
5
Monozygotic twins affected with Kleine-Levin syndrome. (22547884)
2012
6
Monozygotic twins concordant for Kleine-Levin syndrome. (22646233)
2012
7
Kleine-Levin syndrome and response to modafinil in a young woman. (21304127)
2011
8
Persistent deficits of visual recall in Kleine-Levin syndrome. (21236684)
2011
9
Familial recurrent hypersomnia: two siblings with Kleine-Levin syndrome and menstrual-related hypersomnia. (20404354)
2010
10
Kleine-Levin syndrome: Etiology, diagnosis, and treatment. (21264130)
2010
11
Kleine-Levin syndrome in two subjects with diagnosis of autistic disorder. (18609443)
2009
12
Lower dopamine transporter density in an asymptomatic patient with Kleine-Levin syndrome. (18028505)
2008
13
Atypical Kleine--Levin syndrome: can insomnia and anorexia be features too? (17644478)
2008
14
Kleine-Levin syndrome: a disease in its own right? (18797439)
2008
15
Kleine-Levin syndrome: history and brief review. (18667831)
2008
16
Polysomnography in Kleine-Levin syndrome. (18316691)
2008
17
Magnetic resonance spectroscopy in a patient with Kleine-Levin syndrome. (17932706)
2007
18
Kleine-Levin syndrome: a systematic review of 186 cases in the literature. (16230322)
2005
19
The Kleine-Levin syndrome: a paramedian thalamic dysfunction? (16218072)
2005
20
Posttraumatic Kleine-Levin syndrome: a case report. (15589717)
2004
21
The Kleine-Levin syndrome - effects of treatment with lithium -. (12910433)
2003
22
Persistent neuropsychological deficits in the Kleine-Levin syndrome. (12675707)
2003
23
Kleine-Levin syndrome and encephalitis. (12503672)
2002
24
Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic analyses. (12473762)
2002
25
A case report of Kleine-Levin syndrome in an adolescent girl. (11496026)
2001
26
Neuropsychological sequelae in Kleine-Levin syndrome: case report. (10920418)
2000
27
Treatment of Kleine-Levin syndrome: melatonin on the starting block. (10817108)
2000
28
Light therapy for Kleine-Levin syndrome. (9847495)
1998
29
Kleine-Levin syndrome: case report. (9604538)
1998
30
Endocrinological and polysomnographic findings in Kleine-Levin syndrome: no evidence for hypothalamic and circadian dysfunction. (9595606)
1998
31
Neuroendocrine evaluation in Kleine-Levin syndrome: evidence of reduced dopaminergic tone during periods of hypersomnolence. (1654588)
1991
32
The kleine-levin syndrome : review and report of two atypical cases. (21927438)
1990
33
Interepisodic morbidity in Kleine-Levin syndrome. (2397348)
1990
34
A female case with the Kleine-Levin syndrome and its physiopathologic aspects. (2739168)
1989
35
Kleine-Levin syndrome: report of two cases with onset of symptoms precipitated by head trauma. (3139128)
1988
36
Kleine-Levin syndrome: a review. (3477021)
1987
37
Neuroendocrine rhythms in a patient with the Kleine-Levin syndrome. (3865695)
1985
38
The Kleine-Levin syndrome: a review. (7122795)
1982
39
Similarities in EEG sleep findings for Kleine-Levin syndrome and unipolar depression. (6928091)
1980
40
Sleep patterns in Kleine-Levin syndrome. (90606)
1979
41
Kleine-Levin syndrome with periodic apnea during hypersomnic stages--E.E.G. study. (32228)
1978
42
Kleine-Levin syndrome associated with fire setting. (210655)
1978
43
Behavioral manifestations of the Kleine-Levin syndrome. (186243)
1976
44
Electrophysiological changes during episodes of the Kleine-Levin syndrome. (176325)
1975
45
A menstruation-linked periodic hypersomnia. Kleine-Levin syndrome or new clinical entity? (166331)
1975
46
A case of Kleine-Levin syndrome. (4721371)
1973
47
Kleine-Levin syndrome. A case with EEG evidence of periodic brain dysfunction. (5262037)
1970
48
Kleine-Levin syndrome: an atypical case? (5522533)
1970
49
The Kleine-Levin syndrome. (4951979)
1967
50
PERIODIC HYPERSOMNIA AND BULIMIA. THE KLEINE-LEVIN SYNDROME. (14215600)
1964

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

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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