MCID: KLN002
MIFTS: 39

Kleine-Levin Syndrome malady

Neuronal, Genetic categories

Summaries for Kleine-Levin Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 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 hypersomnia. 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: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:64 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

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
familial kleine-levin syndrome 43 61
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 Orphanet58 111488004
UMLS via Orphanet62 C0206085

Related Diseases for Kleine-Levin Syndrome

Sources:
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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

148840

Clinical synopsis from OMIM:

148840

Drugs & Therapeutics for Kleine-Levin Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Kleine-Levin Syndrome

Drug clinical trials:

Search ClinicalTrials for Kleine-Levin Syndrome

Search NIH Clinical Center for Kleine-Levin Syndrome

Search CenterWatch for Kleine-Levin Syndrome

Genetic Tests for Kleine-Levin Syndrome

Anatomical Context for Kleine-Levin Syndrome

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

33
Brain, Thalamus, Hypothalamus, Pituitary

Animal Models for Kleine-Levin Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Kleine-Levin Syndrome

Sources:
51PubMed
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Articles related to Kleine-Levin Syndrome:

(show top 50)    (show all 158)
idTitleAuthorsYear
1
Effects of various drug therapies on Kleine-Levin syndrome: a case report. (22520717)
2013
2
Low thalamic NAA-concentration corresponds to strong neural activation in working memory in Kleine-Levin syndrome. (23451038)
2013
3
Relationship between Kleine-Levin syndrome and upper respiratory infection in Taiwan. (22215926)
2012
4
Kleine-levin syndrome and idiopathic hypersomnia: spectrum disorders. (22345850)
2011
5
A case of Kleine-Levin syndrome. (22164757)
2011
6
Kleine-Levin syndrome: current status. (20451032)
2010
7
Modafinil-associated vivid visual hallucination in a patient with Kleine-Levin syndrome: case report. (20473083)
2010
8
Working memory in 8 Kleine-Levin syndrome patients: an fMRI study. (19480235)
2009
9
A case of Kleine-Levin syndrome with a complete and sustained response to carbamazepine. (19447193)
2009
10
Pharmacological treatment for Kleine-Levin Syndrome. (19370648)
2009
11
Gabapentin for Kleine-Levin syndrome. (19571456)
2009
12
Kleine-Levin syndrome. (19151238)
2009
13
An adult onset patient with Kleine-Levin syndrome responding to valproate. (19062339)
2009
14
Sarcoidosis: a rare cause of Kleine-Levine-Critchley syndrome. (19070262)
2008
15
Episodic diencephalic hypoperfusion in Kleine-Levin syndrome. (16944679)
2006
16
Kleine-Levin syndrome: a unique cause of fatigue in an athlete. (15665192)
2005
17
SPECT findings in the Kleine-Levin syndrome. (16218078)
2005
18
Short-term memory dysfunction in Kleine-Levin syndrome. (14616308)
2003
19
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. (14638887)
2003
20
Photosensitivity during the hypersomnic phase in a patient with Kleine-Levin syndrome. (12886982)
2003
21
A case of Kleine-Levin syndrome examined with SPECT and neuropsychological testing. (11939946)
2002
22
Clinical and polysomnographic characteristics of 34 patients with Kleine-Levin syndrome. (11903864)
2001
23
Kleine-levin syndrome : a report of two cases. (21407869)
2001
24
Multiple sleep latency test and polysomnography in diagnosing Kleine-Levin syndrome and periodic hypersomnia. (11085556)
2000
25
Kleine-Levin syndrome. Clinical course, polysomnography and multiple sleep latency test. Case report. (9850764)
1998
26
Kleine-Levin syndrome and Parkinsonian symptoms--a case report. (9619648)
1998
27
Valproic acid for Kleine-Levin syndrome. (9204661)
1997
28
Kleine-Levin syndrome--a case report with a brief review. (9251261)
1996
29
The sleeping aviator--aeromedical disposition of Kleine-Levin syndrome. (8929205)
1996
30
Kleine-Levin syndrome: a case report. (7963618)
1994
31
Clinical use of moclobemide in Kleine-Levin syndrome. (1422635)
1992
32
Kleine-Levin syndrome: a case report. (1580874)
1992
33
HLA-DR antigens in Kleine-Levin syndrome. (2221849)
1990
34
Kleine-Levin syndrome ethiopathogenesis and treatment. (3078227)
1988
35
Kleine-Levin syndrome: unrecognized diagnosis in adolescent psychiatry. (3478332)
1987
36
Episodic hormone secretion during sleep in Kleine-Levin syndrome: evidence for hypothalamic dysfunction. (3477962)
1987
37
A case of multiple sclerosis with an onset mimicking the Kleine-Levin syndrome. (3597054)
1987
38
Kleine-Levin syndrome following acute viral encephalitis. (3463365)
1986
39
Kleine-Levin syndrome: normal CSF monoamines and response to lithium therapy. (4022394)
1985
40
Sleep apnea and the Kleine-Levin syndrome. (3923398)
1985
41
Multiple Sleep Latency Test findings in Kleine-Levin syndrome. (6581275)
1984
42
Recognizing and managing the adolescent with Kleine-Levin syndrome. (6584417)
1984
43
The treatment of Kleine-Levin syndrome with lithium. (6416662)
1983
44
A pathologic basis for Kleine-Levin syndrome. (6948538)
1982
45
Kleine-Levin syndrome in a female patient. (991067)
1976
46
EEG in Kleine-Levin syndrome. (4195686)
1970
47
A female case of the Kleine-Levin Syndrome. (5236057)
1968
48
Kleine-Levin syndrome: report of a case. (6017827)
1967
49
The Kleine-Levin syndrome. Some further observations. (5295527)
1965
50
The Syndrome of Periodic Somnolence and Morbid Hunger (Kleine-Levin Syndrome). (20784073)
1942

Genetic Variations for Kleine-Levin Syndrome

Expression for genes affiliated with Kleine-Levin Syndrome

Sources:
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

Sources:
54Reactome, 52QIAGEN, 12EMD Millipore, 30KEGG
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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
Hide members
9.1HLA-DRB1, HLA-DQB1
3
Immune response NFAT in immune response
Hide members
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

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

idCompoundScoreTop Affiliating Genes
1c-peptide459.0HCRT, HLA-DRB1
2glutamate458.6HCRT, HLA-DRB1, HLA-DQB1
3oligonucleotide458.3HCRT, HLA-DRB1, HLA-DQB1

GO Terms for genes affiliated with Kleine-Levin Syndrome

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kleine-Levin Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet