MCID: KLN009
MIFTS: 35

Kleine-Levin Hibernation Syndrome malady

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

Aliases & Classifications for Kleine-Levin Hibernation Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 11Disease Ontology, 47NINDS, 13DISEASES, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
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Aliases & Descriptions for Kleine-Levin Hibernation Syndrome:

Name: Kleine-Levin Hibernation Syndrome 50 46
Kleine-Levin Syndrome 11 47 13 52 66
Familial Kleine-Levin Syndrome 46 66
 
Familial Hibernation Syndrome 46
Kleine Levin Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
kleine-levin syndrome:
Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Adult,Childhood

HPO:

62
kleine-levin hibernation syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 148840
Disease Ontology11 DOID:0060165
Orphanet52 ORPHA33543
ICD10 via Orphanet29 G47.8
MESH via Orphanet38 D017593
UMLS via Orphanet67 C0206085

Summaries for Kleine-Levin Hibernation Syndrome

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NIH Rare Diseases:46 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 Hibernation Syndrome, also known as kleine-levin syndrome, is related to schizophrenia and idiopathic juxtafoveal retinal telangiectasia, and has symptoms including sleep disturbances, confusion and polyphagia. An important gene associated with Kleine-Levin Hibernation Syndrome is RPS6KB2 (Ribosomal Protein S6 Kinase B2), and among its related pathways are Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics and Neurotransmitter Clearance In The Synaptic Cleft. Affiliated tissues include brain, hypothalamus and thalamus, and related mouse phenotypes are muscle and growth/size/body region.

Disease Ontology:11 A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.

NINDS:47 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.

OMIM:50 The Kleine-Levin hibernation syndrome is a rare disorder that occurs predominantly in males and is characterized by... (148840) more...

Related Diseases for Kleine-Levin Hibernation Syndrome

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1schizophrenia28.9COMT, GAD2, HCRT, HTR7, SLC6A3, TPH1
2idiopathic juxtafoveal retinal telangiectasia10.7HCRT, HLA-DQB1
3hypersomnia10.7
4erythematosquamous dermatosis10.6HCRT, SLC6A3
5encephalitis10.5
6jaw cancer10.4COMT, HCRT
7hypoxia10.4HCRT, HLA-DQB1
8gastric body carcinoma10.4HTR7, SLC6A3
9hemorrhagic cystitis10.3COMT, SLC6A3
10thyroid cancer, childhood10.3COMT, TPH1
11autistic disorder10.3
12recurrent hypersomnia10.3
13narcolepsy10.3
14conjunctival vascular disease10.3POMC, RHCE
15autoimmune disease of central nervous system10.2HTR7, POMC
16pseudohypoparathyroidism10.2POMC, RHCE
17tongue disease10.2COMT, SLC6A3
18transsexualism10.2HTR7, POMC
19holt-oram syndrome10.1
20prader-willi syndrome10.1
21deficiency anemia10.1
22bipolar disorder10.1
23sleep apnea10.1
24iron deficiency anemia10.1
25purpura10.1
26cerebritis10.1
27influenza10.1
28migraine with brainstem aura10.1
29idiopathic hypersomnia10.1
30pandas10.1
31encephalopathy10.1
32obsessive-compulsive personality disorder10.1COMT, SLC6A3, TPH1
33hypertrophy of breast10.1CORT, HTR7, SLC6A3
34chronic cervicitis10.1COMT, SLC6A3, TPH1
35enthesopathy10.1COMT, SLC6A3, TPH1
36parkinsonism-dystonia, infantile10.1COMT, SLC6A3, TPH1
37autoinflammation, lipodystrophy, and dermatosis syndrome10.1HLA-DQB1, HLA-DQB2
38foster-kennedy syndrome10.0HLA-DQB1, HLA-DQB2
39aicardi-goutieres syndrome 210.0COMT, SLC6A3, TPH1
40histiocytoid hemangioma10.0COMT, TPH1
41semantic agnosia10.0HTR7, POMC
42acatalasemia10.0COMT, HCRT, POMC
43lymphadenitis9.9HTR7, POMC
44fechtner syndrome9.8COMT, POMC, TPH1
45parkinson disease, late-onset9.8COMT, HCRT, SLC6A3, TPH1
46parasitic ectoparasitic infectious disease9.7HTR7, POMC
47pervasive developmental disorder9.7COMT, HTR7, POMC, SLC6A3
48cervix uteri carcinoma in situ9.6COMT, HCRT, HLA-DQB1, SLC6A3, TPH1
49phlegmonous dacryocystitis9.6COMT, POMC, SLC6A3, TPH1
50avoidant personality disorder9.4COMT, HCRT, HTR7, POMC, SLC6A3

Graphical network of the top 20 diseases related to Kleine-Levin Hibernation Syndrome:



Diseases related to kleine-levin hibernation syndrome

Symptoms for Kleine-Levin Hibernation Syndrome

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Symptoms by clinical synopsis from OMIM:

148840

Clinical features from OMIM:

148840

HPO human phenotypes related to Kleine-Levin Hibernation Syndrome:

id Description Frequency HPO Source Accession
1 confusion HP:0001289
2 polyphagia HP:0002591
3 vivid hallucinations HP:0006803
4 episodic hypersomnia HP:0007200

UMLS symptoms related to Kleine-Levin Hibernation Syndrome:


sleep disturbances

Drugs & Therapeutics for Kleine-Levin Hibernation Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Brain Scintigraphy in Normal Versus Kleine-Levin Syndrome SubjectsCompletedNCT02337023
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Kleine-Levin Hibernation Syndrome

Genetic Tests for Kleine-Levin Hibernation Syndrome

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Anatomical Context for Kleine-Levin Hibernation Syndrome

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MalaCards organs/tissues related to Kleine-Levin Hibernation Syndrome:

34
Brain, Hypothalamus, Thalamus

Animal Models for Kleine-Levin Hibernation Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Kleine-Levin Hibernation Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7GAD2, HCRT, HLA-DQB1, RPS6KB2, SLC6A3, STAC3
2MP:00053787.3CORT, GAD2, HCRT, HLA-DQB1, POMC, RPS6KB2
3MP:00053766.8COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR7
4MP:00053866.5COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR7

Publications for Kleine-Levin Hibernation Syndrome

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Variations for Kleine-Levin Hibernation Syndrome

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Expression for genes affiliated with Kleine-Levin Hibernation Syndrome

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Search GEO for disease gene expression data for Kleine-Levin Hibernation Syndrome.

Pathways for genes affiliated with Kleine-Levin Hibernation Syndrome

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GO Terms for genes affiliated with Kleine-Levin Hibernation Syndrome

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Cellular components related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:00426139.5HLA-DQB1, HLA-DQB2
2integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.5HLA-DQB1, HLA-DQB2
3transport vesicle membraneGO:00306589.4HLA-DQB1, HLA-DQB2

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

idNameGO IDScoreTop Affiliating Genes
1ammonium transmembrane transportGO:007248810.3RHCE, SLC6A3
2neurotransmitter biosynthetic processGO:004213610.0GAD2, SLC6A3
3dopamine catabolic processGO:00424209.9COMT, SLC6A3
4chemical synaptic transmissionGO:00072689.0CORT, GAD2, HCRT, HTR7

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:00323959.8HLA-DQB1, HLA-DQB2
2neuropeptide hormone activityGO:00051849.2CORT, HCRT, POMC

Sources for Kleine-Levin Hibernation Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet