MCID: KLN002
MIFTS: 44

Kleine-Levin Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Kleine-Levin Syndrome

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Sources:
10Disease Ontology, 46NINDS, 12DISEASES, 51Orphanet, 65UMLS, 45NIH Rare Diseases, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
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Aliases & Descriptions for Kleine-Levin Syndrome:

Name: Kleine-Levin Syndrome 10 46 12 51 65
Familial Kleine-Levin Syndrome 45 65
Kleine-Levin Hibernation Syndrome 45
 
Familial Hibernation Syndrome 45
Kleine Levin Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
kleine-levin syndrome:
Age of onset: Adolescent,Adult,Childhood


External Ids:

Disease Ontology10 DOID:0060165
Orphanet51 33543
UMLS via Orphanet66 C0206085
ICD10 via Orphanet28 G47.8
MESH via Orphanet37 D017593

Summaries for Kleine-Levin Syndrome

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NIH Rare Diseases:45 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

MalaCards based summary: Kleine-Levin Syndrome, also known as familial kleine-levin syndrome, is related to schizophrenia and hypersomnia, and has symptoms including autosomal dominant inheritance, confusion and polyphagia. An important gene associated with Kleine-Levin Syndrome is TPH1 (Tryptophan Hydroxylase 1), and among its related pathways are Neurotransmitter Clearance In The Synaptic Cleft and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include brain, thalamus and hypothalamus, and related mouse phenotypes are muscle and endocrine/exocrine gland.

Disease Ontology:10 A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.

NINDS:46 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.

Wikipedia:68 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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Diseases related to Kleine-Levin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1schizophrenia29.8COMT, GAD2, HTR2A, HTR7, PRL, SLC6A3
2hypersomnia10.9
3encephalitis10.6
4narcolepsy10.5
5recurrent hypersomnia10.5
6tucker syndrome10.4HLA-DQB1, HLA-DRB1
7testicular monophasic choriocarcinoma10.3HLA-DQB1, HLA-DRB1
8best1 retinopathy10.3HLA-DQB1, HLA-DRB1
9lichen planus pemphigoides10.3HLA-DQB1, HLA-DRB1
10microsomia hemifacial radial defects10.3HLA-DQB1, HLA-DRB1
11heavy chain deposition disease10.3HLA-DQB1, HLA-DRB1
12adult syndrome10.3
13prader-willi syndrome10.3
14autistic disorder10.3
15bipolar disorder10.3
16cerebritis10.3
17viral encephalitis10.3
18influenza10.3
19purpura10.3
20sleep apnea10.3
21sleep disorder10.3
22pandas10.3
23encephalopathy10.3
24autoimmune polyglandular syndrome type 210.3HLA-DQB1, HLA-DRB1
25red cell phospholipid defect with hemolysis10.3HLA-DQB1, HLA-DRB1
26childhood cerebellar astrocytic neoplasm10.3HLA-DQB1, HLA-DRB1
27acute endometritis10.3HCRT, HLA-DQB1, HLA-DRB1
28hypertonia10.3HCRT, HLA-DQB1, HLA-DRB1
29secretory diarrhea10.3HTR2A, SLC6A3
30gastrointestinal tularemia10.3HTR2A, TPH1
31hard palate cancer10.3HTR2A, HTR7
32erythematosquamous dermatosis10.3HCRT, SLC6A3
33familial atrial fibrillation10.3RHCE, RHD
34blood platelet disease10.2RHCE, RHD
35finnish upper limb-onset distal myopathy10.2HLA-DQB1, HLA-DRB1
36aleukemic leukemia cutis10.2HTR2A, SLC6A3
37psychotic disorder10.2HTR2A, HTR7
38kleptomania10.2HTR2A, HTR7, TPH1
39parkinson disease 510.2COMT, HTR2A
40transient neonatal thrombocytopenia10.2HTR2A, HTR7, TPH1
41acute eustachian salpingitis10.2HTR2A, HTR7
42trachea leiomyoma10.2HTR2A, SLC6A3
43jejunal somatostatinoma10.2HTR2A, POMC
44myositis ossificans10.2HTR2A, HTR7, SLC6A3
45steatorrhea10.2HTR2A, HTR7
46senile atrophy of choroid10.2HLA-DQB1, HLA-DRB1
47sost-related sclerosing bone dysplasia10.2COMT, HTR2A, TPH1
48spastic quadriplegia10.2COMT, HTR2A, TPH1
49myxomatous pattern testicular yolk sac tumor10.2HTR2A, POMC
50atrophic rhinitis10.2HTR2A, POMC

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Brain Scintigraphy in Normal Versus Kleine-Levin Syndrome SubjectsCompletedNCT02337023

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:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7GAD2, HCRT, HLA-DQB1, HTR2A, RPS6KB2, SLC6A3
2MP:00053797.1CORT, GAD2, HLA-DQB1, HTR2A, POMC, PRL
3MP:00053866.3COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR2A
4MP:00053765.5COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR7

Publications for Kleine-Levin Syndrome

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Articles related to Kleine-Levin Syndrome:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Lithium therapy in Kleine-Levin syndrome: An open-label, controlled study in 130 patients. (26453648)
2015
2
An unusual occurrence of Kleine-Levin syndrome in a man with refractory immune thrombocytopenic purpura: a case report. (25885480)
2015
3
Treatment of Kleine-Levin Syndrome with Aripiprazole. (26091200)
2015
4
Time to find a biomarker in Kleine-Levin Syndrome. (26459683)
2015
5
Serum cytokine levels in Kleine-Levin syndrome. (26116465)
2015
6
Feeling unreal: a functional imaging study in patients with Kleine-Levin syndrome. (24785943)
2014
7
Kleine-Levin Syndrome: A case report. (26483915)
2014
8
Functional magnetic resonance imaging in narcolepsy and the kleine-levin syndrome. (25009530)
2014
9
Treatment of kleine-levin syndrome with acetazolamide. (25317098)
2014
10
Transient Kleine-Levin syndrome following a neuroendoscopic procedure. (25093792)
2014
11
GAD65 autoantibodies in Kleine-Levin syndrome. (24763794)
2014
12
Widespread hypermetabolism in symptomatic and asymptomatic episodes in Kleine-Levin syndrome. (24699677)
2014
13
Kleine-Levin syndrome with brain atrophy. (23664128)
2013
14
Kleine-levin syndrome treated with clarithromycin. (24235906)
2013
15
Diagnosis, disease course, and management of patients with Kleine-Levin syndrome. (22995695)
2012
16
Kleine Levin syndrome in Malaysia: first typical case. (22605587)
2012
17
Kleine-Levin syndrome: the first typical case in Thailand. (21280539)
2010
18
Onset of Kleine-Levin Syndrome in association with isotretinoin treatment. (20163374)
2010
19
Working memory in 8 Kleine-Levin syndrome patients: an fMRI study. (19480235)
2009
20
A case of Kleine-Levin syndrome with a complete and sustained response to carbamazepine. (19447193)
2009
21
Kleine-Levin syndrome: interface between neurology and psychiatry. (17420845)
2007
22
Posttraumatic Kleine-Levin syndrome. (16950384)
2006
23
Kleine-Levin syndrome: a systematic review of 186 cases in the literature. (16230322)
2005
24
The Kleine-Levin syndrome - effects of treatment with lithium -. (12910433)
2003
25
Short-term memory dysfunction in Kleine-Levin syndrome. (14616308)
2003
26
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. (14638887)
2003
27
Clinical and polysomnographic characteristics of 34 patients with Kleine-Levin syndrome. (11903864)
2001
28
Kleine-levin syndrome : a report of two cases. (21407869)
2001
29
A case report of Kleine-Levin syndrome in an adolescent girl. (11496026)
2001
30
Neuropsychological sequelae in Kleine-Levin syndrome: case report. (10920418)
2000
31
Multiple sleep latency test and polysomnography in diagnosing Kleine-Levin syndrome and periodic hypersomnia. (11085556)
2000
32
Treatment of Kleine-Levin syndrome: melatonin on the starting block. (10817108)
2000
33
Light therapy for Kleine-Levin syndrome. (9847495)
1998
34
Valproic acid for Kleine-Levin syndrome. (9204661)
1997
35
Kleine-Levin syndrome--a case report with a brief review. (9251261)
1996
36
Kleine-Levin syndrome in a boy with Prader-Willi syndrome. (8650457)
1996
37
Clinical use of moclobemide in Kleine-Levin syndrome. (1422635)
1992
38
Kleine-Levin syndrome: report of two cases with onset of symptoms precipitated by head trauma. (3139128)
1988
39
Kleine-levin syndrome: a case report from India. (6956423)
1982
40
A pathologic basis for Kleine-Levin syndrome. (6948538)
1982
41
Electrophysiological changes during episodes of the Kleine-Levin syndrome. (176325)
1975
42
The Kleine-Levin syndrome. Case report and review of the literature. (4814887)
1974
43
Periodic megaphagia and hypersomnia--an example of the Kleine-Levin syndrome in an adolescent girl. (4719411)
1973
44
A case of Kleine-Levin syndrome. (4721371)
1973
45
Kleine-Levin syndrome. A case with EEG evidence of periodic brain dysfunction. (5262037)
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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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:004261310.3HLA-DQB1, HLA-DRB1
2secretory granuleGO:00301419.3HCRT, POMC, TRH
3axonGO:00304249.0COMT, GAD2, HTR2A, SLC6A3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of peptide or polysaccharide antigen via MHC class IIGO:000250410.6HLA-DQB1, HLA-DRB1
2immunoglobulin production involved in immunoglobulin mediated immune responseGO:000238110.5HLA-DQB1, HLA-DRB1
3ammonium transportGO:001569610.4RHCE, RHD
4humoral immune response mediated by circulating immunoglobulinGO:000245510.4HLA-DQB1, HLA-DRB1
5serotonin receptor signaling pathwayGO:000721010.4HTR2A, HTR7
6smooth muscle contractionGO:000693910.3HTR2A, HTR7
7negative regulation of potassium ion transportGO:004326710.2HCRT, HTR2A
8ammonium transmembrane transportGO:007248810.2RHCE, RHD, SLC6A3
9dopamine catabolic processGO:00424209.8COMT, SLC6A3
10neurotransmitter biosynthetic processGO:00421369.5COMT, GAD2, SLC6A3
11synaptic transmissionGO:00072688.0COMT, CORT, GAD2, HCRT, HTR2A, HTR7

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:003239510.4HLA-DQB1, HLA-DRB1
2ammonium transmembrane transporter activityGO:000851910.3RHCE, RHD
3serotonin receptor activityGO:000499310.2HTR2A, HTR7
4hormone activityGO:00051798.8CORT, POMC, PRL

Sources for Kleine-Levin Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet