MCID: KLN002
MIFTS: 40

Kleine-Levin Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Kleine-Levin Syndrome

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 42NINDS, 11DISEASES, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Kleine-Levin Syndrome, Aliases & Descriptions:

Name: Kleine-Levin Syndrome 9 41 42 11 47 60
Familial Kleine-Levin Syndrome 41 60
Kleine-Levin Hibernation Syndrome 41
 
Familial Hibernation Syndrome 41
Kleine Levin Syndrome 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
kleine-levin syndrome:
Age of onset: Adolescent,Adult,Childhood


External Ids:

Disease Ontology9 DOID:0060165
Orphanet47 33543
MESH via Orphanet34 D017593
ICD10 via Orphanet26 G47.8
UMLS via Orphanet61 C0206085

Summaries for Kleine-Levin Syndrome

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NINDS:42 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 familial kleine-levin syndrome, is related to narcolepsy and schizophrenia, and has symptoms including autosomal dominant inheritance, confusion and polyphagia. 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:9 A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.

NIH Rare Diseases:41 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) also known as \"Sleeping Beauty syndrome\" is a rare sleep disorder... more...

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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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:

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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MalaCards organs/tissues related to Kleine-Levin Syndrome:

31
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:

35
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 174)
idTitleAuthorsYear
1
An unusual occurrence of Kleine-Levin syndrome in a man with refractory immune thrombocytopenic purpura: a case report. (25885480)
2015
2
Feeling unreal: a functional imaging study in patients with Kleine-Levin syndrome. (24785943)
2014
3
Functional magnetic resonance imaging in narcolepsy and the kleine-levin syndrome. (25009530)
2014
4
Treatment of kleine-levin syndrome with acetazolamide. (25317098)
2014
5
Transient Kleine-Levin syndrome following a neuroendoscopic procedure. (25093792)
2014
6
GAD65 autoantibodies in Kleine-Levin syndrome. (24763794)
2014
7
Widespread hypermetabolism in symptomatic and asymptomatic episodes in Kleine-Levin syndrome. (24699677)
2014
8
Kleine-Levin syndrome with brain atrophy. (23664128)
2013
9
Kleine-levin syndrome treated with clarithromycin. (24235906)
2013
10
Diagnosis, disease course, and management of patients with Kleine-Levin syndrome. (22995695)
2012
11
Kleine Levin syndrome in Malaysia: first typical case. (22605587)
2012
12
Kleine-Levin syndrome: the first typical case in Thailand. (21280539)
2010
13
Onset of Kleine-Levin Syndrome in association with isotretinoin treatment. (20163374)
2010
14
Working memory in 8 Kleine-Levin syndrome patients: an fMRI study. (19480235)
2009
15
A case of Kleine-Levin syndrome with a complete and sustained response to carbamazepine. (19447193)
2009
16
Lower dopamine transporter density in an asymptomatic patient with Kleine-Levin syndrome. (18028505)
2008
17
Kleine-Levin syndrome: interface between neurology and psychiatry. (17420845)
2007
18
Posttraumatic Kleine-Levin syndrome. (16950384)
2006
19
Kleine-Levin syndrome: a systematic review of 186 cases in the literature. (16230322)
2005
20
The Kleine-Levin syndrome - effects of treatment with lithium -. (12910433)
2003
21
Short-term memory dysfunction in Kleine-Levin syndrome. (14616308)
2003
22
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. (14638887)
2003
23
Kleine-Levin syndrome following acute non-specific encephalitis. (12061684)
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
Kleine-Levin syndrome--a case report with a brief review. (9251261)
1996
32
Kleine-Levin syndrome in a boy with Prader-Willi syndrome. (8650457)
1996
33
Kleine-Levin syndrome: a cause of diagnostic confusion. (7979534)
1994
34
Clinical features of Kleine-Levin syndrome with localized encephalitis. (8309520)
1993
35
Clinical use of moclobemide in Kleine-Levin syndrome. (1422635)
1992
36
Neuroendocrine evaluation in Kleine-Levin syndrome: evidence of reduced dopaminergic tone during periods of hypersomnolence. (1654588)
1991
37
Kleine-Levin syndrome: report of two cases with onset of symptoms precipitated by head trauma. (3139128)
1988
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
Kleine-Levin syndrome. A case with EEG evidence of periodic brain dysfunction. (5262037)
1970
45
A case of Kleine-Levin syndrome in India. (5480699)
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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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 Suite gene sharing:

(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 pathway58
Immune response CD28 signaling58
Immune response ICOS pathway in T helper cell58
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 pathway58
G protein signaling N RAS regulation pathway58
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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Sources:
43Novoseek
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Compounds related to Kleine-Levin Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1c-peptide439.4HLA-DRB1, HCRT
2tyrosine438.6HLA-DQB1, HLA-DRB1, HCRT
3oligonucleotide438.5HLA-DQB1, HLA-DRB1, HCRT
4glutamate438.3HLA-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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:00426139.3HLA-DQB1, HLA-DRB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.3HLA-DQB1, HLA-DRB1
3clathrin-coated endocytic vesicle membraneGO:00306699.2HLA-DQB1, HLA-DRB1
4transport vesicle membraneGO:00306589.2HLA-DQB1, HLA-DRB1
5ER to Golgi transport vesicle membraneGO:00125079.1HLA-DRB1, HLA-DQB1
6lysosomal membraneGO:00057659.1HLA-DQB1, HLA-DRB1
7trans-Golgi network membraneGO:00325889.0HLA-DQB1, HLA-DRB1
8endocytic vesicle membraneGO:00306668.8HLA-DRB1, HLA-DQB1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1immunoglobulin production involved in immunoglobulin mediated immune responseGO:00023819.3HLA-DRB1, HLA-DQB1
2humoral immune response mediated by circulating immunoglobulinGO:00024559.3HLA-DRB1, HLA-DQB1
3interferon-gamma-mediated signaling pathwayGO:00603339.2HLA-DRB1, HLA-DQB1
4T cell costimulationGO:00312959.2HLA-DQB1, HLA-DRB1
5T cell receptor signaling pathwayGO:00508529.1HLA-DQB1, HLA-DRB1
6immune responseGO:00069559.1HLA-DQB1, HLA-DRB1
7antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:00198869.0HLA-DRB1, HLA-DQB1
8cytokine-mediated signaling pathwayGO:00192218.8HLA-DQB1, HLA-DRB1

Molecular functions related to Kleine-Levin Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:00323959.1HLA-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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet