MCID: KLN009
MIFTS: 36

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:
11Disease Ontology, 13DISEASES, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 49NINDS, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
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Aliases & Descriptions for Kleine-Levin Hibernation Syndrome:

Name: Kleine-Levin Hibernation Syndrome 52 48
Kleine-Levin Syndrome 11 49 54 13 68
Familial Kleine-Levin Syndrome 48 68
 
Familial Hibernation Syndrome 48
Kleine Levin Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
kleine-levin syndrome:
Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Adult,Childhood

HPO:

64
kleine-levin hibernation syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 148840
Disease Ontology11 DOID:0060165
Orphanet54 ORPHA33543
UMLS via Orphanet69 C0206085
ICD10 via Orphanet31 G47.8
MESH via Orphanet40 D017593

Summaries for Kleine-Levin Hibernation Syndrome

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NIH Rare Diseases:48 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 iron deficiency anemia and schizophrenia, and has symptoms including confusion, polyphagia and vivid hallucinations. An important gene associated with Kleine-Levin Hibernation Syndrome is RPS6KB2 (Ribosomal Protein S6 Kinase B2), and among its related pathways are Biogenic Amine Synthesis and Neuroscience. Affiliated tissues include hypothalamus, thalamus and brain, and related mouse phenotypes are Decreased viability and muscle.

NINDS:49 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:52 The Kleine-Levin hibernation syndrome is a rare disorder that occurs predominantly in males and is characterized by... (148840) more...

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

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 all 44)
idRelated DiseaseScoreTop Affiliating Genes
1iron deficiency anemia30.2TOR1A, TOR1B
2schizophrenia29.6COMT, GAD2, HCRT, HTR7, SLC6A3, TPH1
3hypersomnia10.6
4encephalitis10.4
5imaizumi kuroki syndrome10.3HCRT, HLA-DQB1
6lyme disease - neurological complications10.2HCRT, HLA-DQB1
7autistic disorder10.2
8recurrent hypersomnia10.2
9narcolepsy10.2
10renpenning syndrome10.1COMT, HTR7, TPH1
11cecal benign neoplasm10.1COMT, SLC6A3, TPH1
12basal cell carcinoma 310.1COMT, SLC6A3, TPH1
13hepatitis d10.1COMT, SLC6A3, TPH1
14hodgkin's paragranuloma10.1HCRT, HLA-DQB1, HLA-DQB2, RPS6KB2, STAC3
15cholesteatoma10.1COMT, POMC, SLC6A3
16mastitis10.1CORT, HTR7, SLC6A3
17dyskinesia of esophagus10.1HTR7, KCNJ11
18fechtner syndrome10.1COMT, POMC, TPH1
19holt-oram syndrome10.0
20prader-willi syndrome10.0
21deficiency anemia10.0
22bipolar disorder10.0
23sleep apnea10.0
24purpura10.0
25cerebritis10.0
26viral encephalitis10.0
27influenza10.0
28idiopathic hypersomnia10.0
29migraine with brainstem aura10.0
30pandas10.0
31encephalopathy10.0
32autism spectrum disorder10.0COMT, HTR7, POMC, SLC6A3
33carotid stenosis10.0COMT, POMC, SLC6A3, TPH1
34keratosis10.0COMT, HTR7, POMC, TPH1
35parotid gland cancer10.0COMT, HCRT, HLA-DQB1, SLC6A3, TPH1
36personality disorder9.9COMT, HCRT, HTR7, POMC, SLC6A3
37peroneal neuropathy9.9GAD2, KCNJ11, POMC
38retinoblastoma9.9COMT, SLC6A3, TPH1
39hypertrichotic osteochondrodysplasia cantu type9.9KCNJ11, SMUG1
40thrombocytopenia due to platelet alloimmunization9.9POMC, SMUG1
41preeclampsia/eclampsia 59.9COMT, HTR7, POMC, SLC6A3, TPH1
42necatoriasis9.9KCNJ11, SMUG1
43body dysmorphic disorder9.8GAD2, KCNJ11, POMC
44myopathy, distal, with early respiratory failure, autosomal dominant7.8COMT, CORT, DHDDS, FAM83D, GAD2, HCRT

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



Diseases related to kleine-levin hibernation syndrome

Symptoms & Phenotypes for Kleine-Levin Hibernation Syndrome

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Symptoms by clinical synopsis from OMIM:

148840

Clinical features from OMIM:

148840

Human phenotypes related to Kleine-Levin Hibernation Syndrome:

 64
id Description HPO Frequency HPO Source Accession
1 confusion64 HP:0001289
2 polyphagia64 HP:0002591
3 vivid hallucinations64 HP:0006803
4 episodic hypersomnia64 HP:0007200

GenomeRNAi Phenotypes related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-110.3CORT, HLA-DQB1, RHCE

MGI Mouse Phenotypes related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5GAD2, HCRT, HLA-DQB1, KCNJ11, RPS6KB2, SLC6A3
2MP:00053798.4COMT, CORT, GAD2, HLA-DQB1, KCNJ11, POMC
3MP:00053787.6CORT, GAD2, HCRT, HLA-DQB1, KCNJ11, POMC
4MP:00053867.3COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR7
5MP:00036317.2COMT, GAD2, HCRT, HLA-DQB1, HTR7, KCNJ11
6MP:00053766.2COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR7

Drugs & Therapeutics for Kleine-Levin Hibernation Syndrome

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Drugs for Kleine-Levin Hibernation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Technetium Tc 99m bicisate4
2Radiopharmaceuticals514

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:

36
Hypothalamus, Thalamus, Brain

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5COMT, GAD2, TPH1
28.5COMT, GAD2, HCRT, POMC, TOR1A, TPH1

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:004261310.6HLA-DQB1, HLA-DQB2
2secretory granuleGO:00301419.5HCRT, POMC, TOR1A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of peptide or polysaccharide antigen via MHC class IIGO:000250410.7HLA-DQB1, HLA-DQB2
2ammonium transmembrane transportGO:007248810.6RHCE, SLC6A3
3neurotransmitter biosynthetic processGO:004213610.5GAD2, SLC6A3
4dopamine catabolic processGO:004242010.5COMT, SLC6A3
5chaperone mediated protein folding requiring cofactorGO:005108510.3TOR1A, TOR1B
6nuclear membrane organizationGO:007176310.3TOR1A, TOR1B
7chemical synaptic transmissionGO:00072689.8CORT, GAD2, HCRT, HTR7
8response to drugGO:00424938.9COMT, GAD2, KCNJ11, SLC6A3

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:003239510.0HLA-DQB1, HLA-DQB2

Sources for Kleine-Levin Hibernation Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet