MCID: KLN002
MIFTS: 44

Kleine-Levin Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Kleine-Levin Syndrome

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Sources:
10Disease Ontology, 46NINDS, 12DISEASES, 51Orphanet, 65UMLS, 45NIH Rare Diseases, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

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

Characteristics:

Orphanet epidemiological data:

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


Classifications:



External Ids:

Disease Ontology10 DOID:0060165
Orphanet51 33543
ICD10 via Orphanet28 G47.8
MESH via Orphanet37 D017593
UMLS via Orphanet66 C0206085
UMLS65 C0206085, C2936703

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 actinomycosis and prostate adenocarcinoma, and has symptoms including episodic hypersomnia, vivid hallucinations and polyphagia. An important gene associated with Kleine-Levin Syndrome is HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 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 236)
idRelated DiseaseScoreTop Affiliating Genes
1actinomycosis31.3HLA-DQB1, HLA-DRB1
2prostate adenocarcinoma31.0HTR2A, SLC6A3
3myocardial infarction10.6
4melanoma10.6
5lichen planus pemphigoides10.6HLA-DQB1, HLA-DRB1
6tucker syndrome10.6HLA-DQB1, HLA-DRB1
7idiopathic inflammatory myopathy10.6HCRT, HLA-DQB1
8heavy chain deposition disease10.6HLA-DQB1, HLA-DRB1
9pulmonary coin lesion10.6HLA-DQB1, HLA-DRB1
10autoimmune polyglandular syndrome type 210.6HLA-DQB1, HLA-DRB1
11best1 retinopathy10.5HLA-DQB1, HLA-DRB1
12idiopathic juxtafoveal retinal telangiectasia10.5HLA-DQB1, HLA-DRB1
13non-distal monosomy 10q10.5HLA-DQB1, HLA-DRB1
14lichtenstein syndrome10.5HLA-DQB1, HLA-DRB1
15red cell phospholipid defect with hemolysis10.5HLA-DQB1, HLA-DRB1
16psoriasis10.5HLA-DQB1, HLA-DRB1
17rheumatoid arthritis10.5
18asthma10.5
19obesity10.5
20amelogenesis imperfecta10.5
21arthritis10.5
22hepatitis10.5
23leukemia10.5
24chlamydia10.5
25prostatitis10.5
26retinitis10.5
27retinal detachment10.5
28paget's disease of bone10.5
29thyroiditis10.5
30neuronitis10.5
31eosinophilia10.5
32finnish upper limb-onset distal myopathy10.5HLA-DQB1, HLA-DRB1
33esophagus carcinoma in situ10.4HCRT, SLC6A3
34metanephric adenoma10.4HCRT, HLA-DQB1, HLA-DRB1
35hypertonia10.4HCRT, HLA-DQB1, HLA-DRB1
36rectal disease10.4HCRT, HLA-DQB1, HLA-DRB1
37nut allergy10.4HLA-DQB1, HLA-DRB1
38arterial calcification of infancy10.4RHCE, RHD
39pseudohypoparathyroidism10.4RHCE, RHD
40xerophthalmia10.4HTR2A, HTR7
41appendix lymphoma10.4RHCE, RHD
42liver leiomyoma10.4HTR2A, HTR7
43kluver-bucy syndrome10.4HTR2A, SLC6A3
44colorectal cancer10.4
45systemic lupus erythematosus10.4
46lung cancer10.4
47prostate cancer10.4
48breast cancer10.4
49bacteremia10.4
50coproporphyria10.4

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 episodic hypersomnia HP:0007200
2 vivid hallucinations HP:0006803
3 polyphagia HP:0002591
4 confusion HP:0001289

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, Endothelial, Monocytes, Lung

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:00053698.3GAD2, HCRT, HLA-DQB1, HTR2A, RPS6KB2, SLC6A3
2MP:00053797.3COMT, CORT, GAD2, HLA-DQB1, HTR2A, POMC
3MP:00053866.7COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR2A
4MP:00053765.7COMT, 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
Progression of Jackhammer Esophagus to Achalasia: Author's Reply. (27032547)
2016
2
Cytoadherence phenotype of Plasmodium falciparum-infected erythrocytes is associated with specific pfemp-1 expression in parasites from children with cerebral malaria. (25156105)
2014
3
Gross total resection improves overall survival in children with choroid plexus carcinoma. (24166581)
2014
4
Overexpressed FOXC2 in ovarian cancer enhances the epithelial-to-mesenchymal transition and invasion of ovarian cancer cells. (24700112)
2014
5
Association Between Physical Activity and Peripheral Artery Disease and Carotid Artery Stenosis in a Self-Referred Population of 3 Million Adults. (25359858)
2014
6
EphrinB-mediated reverse signalling controls junctional integrity and pro-inflammatory differentiation of endothelial cells. (24522257)
2014
7
Monocyte chemoattractant protein-1 affects migration of hippocampal neural progenitors following status epilepticus in rats. (23339567)
2013
8
Clinical predictors and hemodynamic consequences of elevated peripheral chemosensitivity in optimally treated men with chronic systolic heart failure. (23743490)
2013
9
Combination therapy for scalp angiosarcoma using bevacizumab and chemotherapy: a case report and review of literature. (23825914)
2013
10
Peritoneal papillary serous cystadenocarcinoma at a previous laparoscopic trocar site. (23040941)
2012
11
Surgery and radiosurgery for acromegaly: a review of indications, operative techniques, outcomes, and complications. (22518121)
2012
12
Preliminary evidence of an association between the functional c-kit rs6554199 polymorphism and achalasia in a Turkish population. (21951831)
2012
13
Clinical review of endogenous endophthalmitis in Korea: a 14-year review of culture positive cases of two large hospitals. (21623606)
2011
14
Adjusted prophylactic doses of nadroparin plus low dose aspirin therapy in obstetric antiphospholipid syndrome. A prospective cohort management study. (21640048)
2011
15
Iron-deficiency anemia associated with hiatal hernia: case reports and literature review. (20837629)
2010
16
CYP1A1, smoking and venous thromboembolism. (20664892)
2010
17
Identification and characterization of the human NOL7 gene promoter. (20206243)
2010
18
A placental growth factor variant unable to recognize vascular endothelial growth factor (VEGF) receptor-1 inhibits VEGF-dependent tumor angiogenesis via heterodimerization. (20145150)
2010
19
Human FEZ1 has characteristics of a natively unfolded protein and dimerizes in solution. (18615714)
2009
20
Targeting and insertion of the cholesterol-binding translocator protein into the outer mitochondrial membrane. (19552401)
2009
21
Distinctive pattern of first trimester maternal serum biochemical markers in trisomy 22 pregnancies. (19009551)
2008
22
Takayasu's arteritis: an Indian perspective. (17383909)
2007
23
Penumbra encodes a novel tetraspanin that is highly expressed in erythroid progenitors and promotes effective erythropoiesis. (17158226)
2007
24
Upregulation of peroxisome proliferator-activated receptor gamma coactivator gene (PGC1A) during weight loss is related to insulin sensitivity but not to energy expenditure. (17828388)
2007
25
The APC E1317Q and I1307K polymorphisms in non-colorectal cancers. (17920230)
2007
26
Correction of refractive error and presbyopia in Timor-Leste. (17576709)
2007
27
Disseminated intravascular coagulation after laparoscopic multiple myomectomy with use of icodextrin: a case report. (16962537)
2006
28
Induction of CYP3A4 by efavirenz in primary human hepatocytes: comparison with rifampin and phenobarbital. (15496645)
2004
29
Gene therapy with adenoviral plasmids or naked DNA of vascular endothelial growth factor and platelet-derived growth factor accelerates healing of duodenal ulcer in rats. (15302893)
2004
30
Skeletal muscle regeneration and Trypanosoma cruzi-induced myositis in rats. (14702175)
2004
31
Induction of anti-melanoma CTL response using DC transfected with mutated mRNA encoding full-length Melan-A/MART-1 antigen with an A27L amino acid substitution. (14609574)
2003
32
Keratoderma blennorrhagicum. (14668473)
2003
33
Vascular endothelial growth factor and oxidative damage in cancer. (12726933)
2003
34
Signaling through sphingolipid microdomains of the plasma membrane: the concept of signaling platform. (11201790)
2000
35
Multistep solution-phase parallel synthesis of spiperone analogues. (11078195)
2000
36
Oncogene profile of papillary thyroid carcinoma. (9889797)
1999
37
Induction and alternative splicing of the Bax gene mediated by p53 in a transformed endothelial cell line. (14634288)
1999
38
Factor V Leiden: should all women be screened prior to commencing the contraceptive pill? (10225605)
1999
39
Brucellar spinal epidural abscess. (10209355)
1999
40
Effectiveness of topical calcitriol for localized scleroderma. (9918276)
1999
41
Nuclear factor Y (NF-Y) and cellular senescence. (10585259)
1999
42
Clonally related IgE and IgG4 transcripts in blood lymphocytes of patients with asthma reveal differing patterns of somatic mutation. (9808205)
1998
43
Characterization of a heparin binding site on the heavy chain of factor XI. (9813019)
1998
44
Microsatellite polymorphism within the MICB gene among Japanese patients with BehAset's disease. (9712354)
1998
45
Retinoic acid inhibits basal and interferon-gamma-induced expression of intercellular adhesion molecule 1 in monocytic cells. (7533818)
1995
46
Acute and chronic effects of a new low molecular weight dermatan sulphate (Desmin 370) on blood coagulation and fibrinolysis in healthy subjects. (7867677)
1994
47
Extradigital glomus tumor as a cause of knee pain. (8248416)
1993
48
Ring oxidized retinals form unusual bacteriorhodopsin analogue pigments. (1775535)
1991
49
The Purkinje cell and its afferents in human hereditary ataxia. (2061716)
1991
50
The primary structure of human tissue amyloid P component from a patient with primary idiopathic amyloidosis. (4055725)
1985

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

idNameGO IDScoreTop Affiliating Genes
1immunoglobulin production involved in immunoglobulin mediated immune responseGO:000238110.3HLA-DQB1, HLA-DRB1
2nitrogen utilizationGO:001974010.3RHCE, RHD
3ammonium transmembrane transportGO:007248810.1RHCE, RHD
4organic cation transportGO:001569510.0RHCE, RHD
5smooth muscle contractionGO:00069399.8HTR2A, HTR7
6antigen processing and presentationGO:00198829.7HLA-DQB1, HLA-DRB1

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