MCID: KLN009
MIFTS: 48

Kleine-Levin Hibernation Syndrome

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

Aliases & Classifications for Kleine-Levin Hibernation Syndrome

MalaCards integrated aliases for Kleine-Levin Hibernation Syndrome:

Name: Kleine-Levin Hibernation Syndrome 57 53
Kleine-Levin Syndrome 57 12 54 59 15 73
Familial Kleine-Levin Syndrome 53 73
Familial Hibernation Syndrome 53
Kleine Levin Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
kleine-levin syndrome
Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
kleine-levin hibernation syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 148840
Disease Ontology 12 DOID:0060165
Orphanet 59 ORPHA33543
UMLS via Orphanet 74 C0206085
ICD10 via Orphanet 34 G47.8
MESH via Orphanet 45 D017593
MedGen 42 C0206085

Summaries for Kleine-Levin Hibernation Syndrome

NIH Rare Diseases : 53 Kleine Levin syndromeis a rare disorder characterized by recurrent episodes of excessive sleep (hypersomnia) along with cognitive and behavioral changes. 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 preceded by an upper-respiratory-type infection. During an episode, people with Kleine Levin syndrome can also display abnormal behavior, such as excessive food intake (hyperphagia), irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive. Affected individuals are symptom-free between episodes. The time between episodes varies. Kleine Levin syndrome primarily affects adolescent males, but it also affects females and individuals of other ages. The underlying cause of this condition is unknown. Episodes tend to decrease with advancing age. There are no consistently effective therapies, although stimulants (modafinil, methylphenidate, amphetamine) and mood stabilizers (lithium) may be prescribed with varying results.

MalaCards based summary : Kleine-Levin Hibernation Syndrome, also known as kleine-levin syndrome, is related to hypersomnia and idiopathic hypersomnia. An important gene associated with Kleine-Levin Hibernation Syndrome is HCRT (Hypocretin Neuropeptide Precursor), and among its related pathways/superpathways are Neuroscience and Biogenic Amine Synthesis. The drugs Technetium Tc 99m bicisate and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include brain, thalamus and hypothalamus, and related phenotypes are polyphagia and confusion

OMIM : 57 The Kleine-Levin hibernation syndrome, a rare disorder that occurs predominantly in males, is characterized by episodic attacks of aberrant behavior, hypersomnia, and increased feeding (megaphagia) and sex drives (Kleine, 1925; Levin, 1929). (148840)

NINDS : 54 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.

Disease Ontology : 12 A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.

Related Diseases for Kleine-Levin Hibernation Syndrome

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 hypersomnia 32.3 HCRT HLA-DQB1
2 idiopathic hypersomnia 31.5 HCRT HLA-DQB1
3 recurrent hypersomnia 30.8 HCRT HLA-DQB1 HLA-DQB2 HRH3 RPS6KB2
4 schizophrenia 29.1 COMT GAD2 HRH3 HTR7 SLC6A3 TPH1
5 narcolepsy 28.1 COMT HCRT HLA-DQB1 HLA-DQB2 HRH3 SLC6A3
6 acute disseminated encephalomyelitis 10.5 HCRT HLA-DQB1
7 neurotic excoriation 10.5 HTR7 KCNJ11
8 perry syndrome 10.5 HCRT SLC6A3 TPH1
9 encephalitis 10.4
10 rem sleep behavior disorder 10.4 HCRT SLC6A3
11 brunner syndrome 10.3 COMT HTR7 TPH1
12 type 1 diabetes mellitus 6 10.3 HLA-DQB1 HLA-DQB2
13 conduct disorder 10.3 COMT SLC6A3 TPH1
14 personality disorder 10.3 COMT SLC6A3 TPH1
15 rectosigmoid junction neoplasm 10.3 KCNJ11 SMUG1
16 celiac disease 1 10.3 HLA-DQB1 HLA-DQB2 TOR1A
17 tobacco addiction 10.3 COMT SLC6A3 TPH1
18 autism 10.2
19 hypothalamic disease 10.2
20 depression 10.2
21 psychotic disorder 10.2 COMT SLC6A3 TPH1
22 obsessive-compulsive disorder 10.2 COMT SLC6A3 TPH1
23 separation anxiety disorder 10.2 CORT HTR7 SLC6A3
24 restless legs syndrome 10.2 HCRT POMC SLC6A3
25 anomalous left coronary artery from the pulmonary artery 10.1 KCNJ11 SMUG1
26 secondary hypertrophic osteoarthropathy 10.1 POMC SMUG1
27 multiple sclerosis 10.1
28 holt-oram syndrome 10.1
29 prader-willi syndrome 10.1
30 stroke, ischemic 10.1
31 deficiency anemia 10.1
32 bipolar disorder 10.1
33 sleep apnea 10.1
34 iron deficiency anemia 10.1
35 iron metabolism disease 10.1
36 purpura 10.1
37 cerebritis 10.1
38 viral encephalitis 10.1
39 influenza 10.1
40 migraine with brainstem aura 10.1
41 pandas 10.1
42 encephalopathy 10.1
43 eating disorder 10.0 COMT POMC SLC6A3
44 anorexia nervosa 10.0 COMT HCRT POMC
45 laryngeal tuberculosis 10.0 POMC SMUG1
46 attention deficit-hyperactivity disorder 10.0 COMT HRH3 SLC6A3 TPH1
47 testicular leydig cell tumor 10.0 POMC SMUG1
48 acute endophthalmitis 9.9 TOR1A TOR1B
49 pericardial tuberculosis 9.9 POMC SMUG1
50 mood disorder 9.9 COMT POMC TPH1

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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
episodic attacks of aberrant behavior
episodic hypersomnia
disorientation
vivid hallucinations
compulsive hyperphagia
more
Misc:
predominantly males


Clinical features from OMIM:

148840

Human phenotypes related to Kleine-Levin Hibernation Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 polyphagia 32 HP:0002591
2 confusion 32 HP:0001289
3 episodic hypersomnia 32 HP:0007200
4 vivid hallucinations 32 HP:0006803

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.36 CORT
2 Decreased viability GR00381-A-1 9.36 CORT HLA-DQB1 RHCE
3 Decreased viability GR00381-A-2 9.36 CORT
4 Decreased viability GR00381-A-3 9.36 CORT HLA-DQB1 RHCE
5 Decreased viability GR00402-S-2 9.36 CORT HLA-DQB1 RHCE

MGI Mouse Phenotypes related to Kleine-Levin Hibernation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 COMT CORT GAD2 HCRT HLA-DQB1 HRH3
2 growth/size/body region MP:0005378 10.03 GAD2 HCRT HLA-DQB1 HRH3 KCNJ11 POMC
3 homeostasis/metabolism MP:0005376 10.03 SLC6A3 SMUG1 STAC3 TOR1A TPH1 COMT
4 cardiovascular system MP:0005385 9.97 RPS6KB2 STAC3 TPH1 COMT HCRT HLA-DQB1
5 muscle MP:0005369 9.61 GAD2 HCRT HLA-DQB1 KCNJ11 RPS6KB2 SLC6A3
6 nervous system MP:0003631 9.36 COMT GAD2 HCRT HLA-DQB1 HRH3 HTR7

Drugs & Therapeutics for Kleine-Levin Hibernation Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Technetium Tc 99m bicisate
2 Radiopharmaceuticals

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Brain Scintigraphy in Normal Versus Kleine-Levin Syndrome Subjects Completed NCT02337023
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Kleine-Levin Hibernation Syndrome

Genetic Tests for Kleine-Levin Hibernation Syndrome

Anatomical Context for Kleine-Levin Hibernation Syndrome

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

41
Brain, Thalamus, Hypothalamus, Testes, Heart, Eye, Pituitary

Publications for Kleine-Levin Hibernation Syndrome

Articles related to Kleine-Levin Hibernation Syndrome:

(show top 50) (show all 203)
# Title Authors Year
1
[Kleine-Levin syndrome: immunogenetic hypothesis]. ( 28896006 )
2017
2
Usefulness of brain SPECT imaging in the study of recurrent hypersomnia: Kleine-Levin syndrome. ( 28869046 )
2017
3
Neuroimaging of Narcolepsy and Kleine-Levin Syndrome. ( 28778234 )
2017
4
New hypothesis on pontine-frontal eye field connectivity in Kleine-Levin syndrome. ( 27230978 )
2016
5
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. ( 27090505 )
2016
6
The Kleine-Levin Syndrome: A Rare Disease with Often Delayed Diagnosis-A Report of Two Cases in the Department of Neurology of the University Hospital of Cocody (CA'te d'Ivoire). ( 26989535 )
2016
7
Kleine-Levin Syndrome: An Overview and Relevance to Nursing Practice. ( 26935190 )
2016
8
Kleine-Levin syndrome. Familial cases and comparison with sporadic cases. ( 26739970 )
2016
9
Pharmacological treatment for Kleine-Levin syndrome. ( 27153153 )
2016
10
Anti-N-Methyl-d-Aspartate Receptor Encephalitis Presenting With Features of Kleine-Levin Syndrome and Demyelination. ( 26922652 )
2016
11
Kleine-Levin Syndrome. ( 27137943 )
2016
12
Migraine with brainstem aura presenting as recurrent hypersomnia (Kleine-Levin syndrome). ( 27343267 )
2016
13
Cerebrospinal Fluid Orexin A Levels and Autonomic Function in Kleine-Levin Syndrome. ( 26943469 )
2016
14
Kleine-Levin Syndrome. ( 27073070 )
2016
15
An unusual occurrence of Kleine-Levin syndrome in a man with refractory immune thrombocytopenic purpura: a case report. ( 25885480 )
2015
16
Successful Use of Valproate in Kleine-Levin Syndrome: A Case Report and Review of Cases Reported from India. ( 26664089 )
2015
17
Treatment of Kleine-Levin Syndrome with Aripiprazole. ( 26091200 )
2015
18
Preliminary results on CSF biomarkers for hypothalamic dysfunction in Kleine-Levin syndrome. ( 25454350 )
2015
19
Long-Term Cognitive Impairment in Kleine-Levin Syndrome. ( 26414895 )
2015
20
Time to find a biomarker in Kleine-Levin Syndrome. ( 26459683 )
2015
21
Kleine-Levin syndrome in 120 patients: differential diagnosis and long episodes. ( 25559212 )
2015
22
Lithium treatment of Kleine-Levin syndrome: An advance for a disorder of hypersomnolence. ( 26453646 )
2015
23
Kleine-Levin Syndrome. ( 26055863 )
2015
24
Do the Symptoms of Kleine-Levin Syndrome Correlate With the Hypometabolism of the Thalamus on FDG PET? ( 26562572 )
2015
25
Differential Diagnosis of Kleine-Levin Syndrome. ( 26933566 )
2015
26
Kleine-Levin Syndrome in an 8-Year-Old Girl with Autistic Disorder: Does Autism Account a Primary or Secondary Cause? ( 26664444 )
2015
27
Kleine-Levin syndrome with comorbid iron deficiency anemia. ( 26634130 )
2015
28
Lithium therapy in Kleine-Levin syndrome: An open-label, controlled study in 130 patients. ( 26453648 )
2015
29
Serum cytokine levels in Kleine-Levin syndrome. ( 26116465 )
2015
30
Kleine-Levin syndrome: a case report and review of literature. ( 24630285 )
2014
31
Kleine-Levin syndrome: a review. ( 24470783 )
2014
32
Thalamic activation in the Kleine-Levin syndrome. ( 24497666 )
2014
33
Functional magnetic resonance imaging in narcolepsy and the kleine-levin syndrome. ( 25009530 )
2014
34
Widespread hypermetabolism in symptomatic and asymptomatic episodes in Kleine-Levin syndrome. ( 24699677 )
2014
35
Further experience using clarithromycin in patients with Kleine-Levin syndrome. ( 24733995 )
2014
36
A striking response to lithium in kleine-levin syndrome. ( 24711803 )
2014
37
Kleine-Levin Syndrome: A case report. ( 26483915 )
2014
38
SPECT in the Kleine-Levin Syndrome, a Possible Diagnostic and Prognostic Aid? ( 25295028 )
2014
39
Treatment of kleine-levin syndrome with acetazolamide. ( 25317098 )
2014
40
Feeling unreal: a functional imaging study in patients with Kleine-Levin syndrome. ( 24785943 )
2014
41
Sleeping beauty: kleine-levin syndrome. ( 25316944 )
2014
42
Reduced thalamic and pontine connectivity in kleine-levin syndrome. ( 24765085 )
2014
43
PANDAS and Comorbid Kleine-Levin Syndrome: ( 25329605 )
2014
44
Transient Kleine-Levin syndrome following a neuroendoscopic procedure. ( 25093792 )
2014
45
Psychosis in a case of kleine-levin syndrome: a diagnostic challenge. ( 24860224 )
2014
46
GAD65 autoantibodies in Kleine-Levin syndrome. ( 24763794 )
2014
47
Kleine-levin syndrome treated with clarithromycin. ( 24235906 )
2013
48
Pharmacological treatment for Kleine-Levin syndrome. ( 23945927 )
2013
49
Effects of various drug therapies on Kleine-Levin syndrome: a case report. ( 22520717 )
2013
50
Low thalamic NAA-concentration corresponds to strong neural activation in working memory in Kleine-Levin syndrome. ( 23451038 )
2013

Variations for Kleine-Levin Hibernation Syndrome

Expression for Kleine-Levin Hibernation Syndrome

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

Pathways for Kleine-Levin Hibernation Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.63 COMT GAD2 HCRT POMC TOR1A TPH1
2
Show member pathways
10.47 COMT GAD2 TPH1

GO Terms for Kleine-Levin Hibernation Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 MHC class II protein complex GO:0042613 8.96 HLA-DQB1 HLA-DQB2
2 secretory granule GO:0030141 8.8 HCRT POMC TOR1A

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

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.67 COMT GAD2 KCNJ11 SLC6A3
2 chemical synaptic transmission GO:0007268 9.62 CORT GAD2 HCRT HTR7
3 neurotransmitter biosynthetic process GO:0042136 9.26 GAD2 SLC6A3
4 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.16 HLA-DQB1 HLA-DQB2
5 dopamine catabolic process GO:0042420 8.96 COMT SLC6A3
6 nuclear membrane organization GO:0071763 8.62 TOR1A TOR1B

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

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.96 HLA-DQB1 HLA-DQB2
2 neuropeptide hormone activity GO:0005184 8.8 CORT HCRT POMC

Sources for Kleine-Levin Hibernation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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