MCID: KLN009
MIFTS: 49

Kleine-Levin Hibernation Syndrome

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

Aliases & Classifications for Kleine-Levin Hibernation Syndrome

MalaCards integrated aliases for Kleine-Levin Hibernation Syndrome:

Name: Kleine-Levin Hibernation Syndrome 58 54
Kleine-Levin Syndrome 58 12 77 55 60 45 15 17 74
Familial Kleine-Levin Syndrome 54 74
Familial Hibernation Syndrome 54
Kleine Levin Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
kleine-levin syndrome
Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
kleine-levin hibernation syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060165
OMIM 58 148840
MeSH 45 D017593
MESH via Orphanet 46 D017593
ICD10 via Orphanet 35 G47.8
UMLS via Orphanet 75 C0206085
Orphanet 60 ORPHA33543
MedGen 43 C0206085

Summaries for Kleine-Levin Hibernation Syndrome

NIH Rare Diseases : 54 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 Alpha-synuclein signaling. The drugs Radiopharmaceuticals and Technetium Tc 99m bicisate have been mentioned in the context of this disorder. Affiliated tissues include thalamus, brain and testes, and related phenotypes are confusion and polyphagia

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

OMIM : 58 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 : 55 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 : 77 Kleine–Levin syndrome (KLS), is a rare sleep disorder characterized by persistent episodic hypersomnia... more...

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 60)
# Related Disease Score Top Affiliating Genes
1 hypersomnia 31.8 HCRT HLA-DQB1
2 idiopathic hypersomnia 30.9 HCRT HLA-DQB1
3 recurrent hypersomnia 30.9 HCRT HLA-DQB1 LMOD3 RPS6KB2
4 bipolar disorder 30.6 COMT SLC6A3 TPH1
5 migraine with or without aura 1 30.3 COMT HCRT HRH3 TPH1
6 schizophrenia 29.8 COMT GAD2 HRH3 SLC6A3 TPH1
7 encephalitis 10.6
8 narcolepsy 10.5
9 narcolepsy 2 10.4 HCRT HLA-DQB1
10 narcolepsy 1 10.4 HCRT HLA-DQB1
11 autism 10.4
12 depression 10.4
13 encephalopathy 10.4
14 rem sleep behavior disorder 10.3 HCRT SLC6A3
15 acute disseminated encephalomyelitis 10.3 HCRT HLA-DQB1
16 cannabis dependence 10.3 COMT HCRT
17 multiple sclerosis 10.2
18 holt-oram syndrome 10.2
19 prader-willi syndrome 10.2
20 deficiency anemia 10.2
21 urea cycle disorder 10.2
22 sleep apnea 10.2
23 iron deficiency anemia 10.2
24 endogenous depression 10.2
25 iron metabolism disease 10.2
26 purpura 10.2
27 viral encephalitis 10.2
28 influenza 10.2
29 migraine with brainstem aura 10.2
30 immunoglobulin alpha deficiency 10.2 HLA-DQB1 TOR1A
31 perry syndrome 10.2 HCRT SLC6A3 TPH1
32 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 GAD2 TPH1
33 central nervous system disease 10.2 HCRT HRH3 SLC6A3
34 oppositional defiant disorder 10.2 COMT SLC6A3
35 autoimmune disease of skin and connective tissue 10.2 DHDDS TOR1A
36 brunner syndrome 10.1 COMT TPH1
37 fetal erythroblastosis 10.1 POMC RHCE
38 personality disorder 10.1 COMT SLC6A3 TPH1
39 cervical dystonia 10.1 HLA-DQB1 TOR1A
40 conduct disorder 10.1 COMT SLC6A3 TPH1
41 rh isoimmunization 10.1 POMC RHCE
42 tobacco addiction 10.1 COMT SLC6A3 TPH1
43 dystonia 1, torsion, autosomal dominant 10.1 COMT TOR1A
44 psychotic disorder 10.1 COMT SLC6A3 TPH1
45 obsessive-compulsive disorder 10.0 COMT SLC6A3 TPH1
46 adrenal cortical hypofunction 10.0 POMC TOR1A
47 separation anxiety disorder 10.0 CORT SLC6A3
48 anorexia nervosa 9.9 COMT HCRT POMC
49 acute endophthalmitis 9.9 TOR1A TOR1B
50 eating disorder 9.9 COMT POMC SLC6A3

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

Human phenotypes related to Kleine-Levin Hibernation Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 confusion 33 HP:0001289
2 polyphagia 33 HP:0002591
3 episodic hypersomnia 33 HP:0007200
4 vivid hallucinations 33 HP:0006803

Symptoms via clinical synopsis from OMIM:

58
Neuro:
episodic attacks of aberrant behavior
episodic hypersomnia
disorientation
vivid hallucinations
compulsive hyperphagia
more
Misc:
predominantly males

Clinical features from OMIM:

148840

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 COMT CORT GAD2 HCRT HLA-DQB1 HRH3
2 cardiovascular system MP:0005385 9.92 COMT HCRT HLA-DQB1 HRH3 LMOD3 POMC
3 growth/size/body region MP:0005378 9.9 CORT GAD2 HCRT HLA-DQB1 HRH3 LMOD3
4 endocrine/exocrine gland MP:0005379 9.8 COMT CORT GAD2 HLA-DQB1 POMC RPS6KB2
5 homeostasis/metabolism MP:0005376 9.73 COMT CORT GAD2 HCRT HLA-DQB1 HRH3
6 muscle MP:0005369 9.23 GAD2 HCRT HLA-DQB1 LMOD3 RPS6KB2 SLC6A3

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 Radiopharmaceuticals
2 Technetium Tc 99m bicisate

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

Cochrane evidence based reviews: kleine-levin syndrome

Genetic Tests for Kleine-Levin Hibernation Syndrome

Anatomical Context for Kleine-Levin Hibernation Syndrome

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

42
Thalamus, Brain, Testes, Hypothalamus, Heart, Eye, Small Intestine

Publications for Kleine-Levin Hibernation Syndrome

Articles related to Kleine-Levin Hibernation Syndrome:

(show top 50) (show all 236)
# Title Authors Year
1
New-Onset Psychosis in a Child with Suspected Kleine-Levin Syndrome. ( 30843731 )
2019
2
An Atypical Case of Kleine-Levin Syndrome. ( 30664337 )
2019
3
Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome. ( 30588389 )
2018
4
Fluctuating CSF hypocretin-1 levels in mild brain trauma-induced Kleine-Levin syndrome. ( 30103953 )
2018
5
Neuroimaging in the Kleine-Levin Syndrome. ( 30030664 )
2018
6
Kleine-Levin syndrome is associated with LMOD3 variants. ( 29923248 )
2018
7
Kleine-Levin syndrome: the contribution of PET scan and hydrogen breath test for small intestinal bacterial overgrowth. ( 29773218 )
2018
8
Emerging psychiatric disorders in Kleine-Levin syndrome. ( 29655261 )
2018
9
Kleine-Levin syndrome: A neuropsychiatric disorder. ( 29606318 )
2018
10
IV steroids during long episodes of Kleine-Levin syndrome. ( 29572278 )
2018
11
Breathing abnormalities during sleep in Kleine-Levin Syndrome: fact or coincidence? ( 29553974 )
2018
12
Kleine-Levin syndrome: clues to aetiology. ( 29532411 )
2018
13
A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge. ( 29436797 )
2018
14
The clinical characteristics of Kleine-Levin syndrome according to ethnicity and geographic location. ( 29397778 )
2018
15
The sleep architecture of Saudi Arabian patients with Kleine-Levin syndrome. ( 29332107 )
2018
16
Kleine-Levin Syndrome. ( 28216256 )
2018
17
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. ( 27090505 )
2017
18
Atypical Kleine-Levin syndrome: An elusive entity? ( 29026774 )
2017
19
Successful Long-term Management of a Child with Kleine-Levin Syndrome with Low-dose Lithium. ( 28852256 )
2017
20
The "Known Unknowns" of Kleine-Levin Syndrome: A Review and Future Prospects. ( 28778233 )
2017
21
Kleine-Levin syndrome: A neurological rarity. ( 28681768 )
2017
22
Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome. ( 28629702 )
2017
23
Kleine-Levin syndrome; An update and mini-review. ( 28434769 )
2017
24
FDG Brain PET/CT Revealing Bilateral Thalamostriatal Activation During a Symptomatic Episode in a Patient With Kleine-Levin Syndrome. ( 28221196 )
2017
25
Neuroimaging of Narcolepsy and Kleine-Levin Syndrome. ( 28778234 )
2017
26
Usefulness of brain SPECT imaging in the study of recurrent hypersomnia: Kleine-Levin syndrome. ( 28869046 )
2017
27
Kleine-Levin syndrome elicited by encephalopathy with reversible splenial lesion. ( 28804979 )
2017
28
[Kleine-Levin syndrome: immunogenetic hypothesis]. ( 28896006 )
2017
29
Anti-N-Methyl-d-Aspartate Receptor Encephalitis Presenting With Features of Kleine-Levin Syndrome and Demyelination. ( 26922652 )
2016
30
A Polysomnography Study of Kleine-Levin Syndrome in a Single Center. ( 27364793 )
2016
31
Familial Kleine-Levin Syndrome: A Specific Entity? ( 27253765 )
2016
32
Prevalence and Mimics of Kleine-Levin Syndrome: A Survey in French-Speaking Switzerland. ( 27250808 )
2016
33
New hypothesis on pontine-frontal eye field connectivity in Kleine-Levin syndrome. ( 27230978 )
2016
34
Pharmacological treatment for Kleine-Levin syndrome. ( 27153153 )
2016
35
Kleine-Levin Syndrome. ( 27137943 )
2016
36
Kleine-Levin Syndrome. ( 27073070 )
2016
37
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 (Côte d'Ivoire). ( 26989535 )
2016
38
Cerebrospinal Fluid Orexin A Levels and Autonomic Function in Kleine-Levin Syndrome. ( 26943469 )
2016
39
Kleine-Levin Syndrome: An Overview and Relevance to Nursing Practice. ( 26935190 )
2016
40
Kleine-Levin syndrome. Familial cases and comparison with sporadic cases. ( 26739970 )
2016
41
Do the Symptoms of Kleine-Levin Syndrome Correlate With the Hypometabolism of the Thalamus on FDG PET? ( 26562572 )
2016
42
Time to find a biomarker in Kleine-Levin Syndrome. ( 26459683 )
2016
43
Long-Term Cognitive Impairment in Kleine-Levin Syndrome. ( 26414895 )
2016
44
Migraine with brainstem aura presenting as recurrent hypersomnia (Kleine-Levin syndrome). ( 27343267 )
2016
45
Kleine-Levin syndrome with comorbid iron deficiency anemia. ( 26634130 )
2015
46
An unusual occurrence of Kleine-Levin syndrome in a man with refractory immune thrombocytopenic purpura: a case report. ( 25885480 )
2015
47
Differential Diagnosis of Kleine-Levin Syndrome. ( 26933566 )
2015
48
Kleine-Levin Syndrome in an 8-Year-Old Girl with Autistic Disorder: Does Autism Account a Primary or Secondary Cause? ( 26664444 )
2015
49
Successful Use of Valproate in Kleine-Levin Syndrome: A Case Report and Review of Cases Reported from India. ( 26664089 )
2015
50
Lithium therapy in Kleine-Levin syndrome: An open-label, controlled study in 130 patients. ( 26453648 )
2015

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

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 neuron projection GO:0043005 9.26 GABRR3 SLC6A3 TOR1A TPH1
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 chaperone cofactor-dependent protein refolding GO:0051085 9.32 TOR1A TOR1B
2 neurotransmitter biosynthetic process GO:0042136 9.26 GAD2 SLC6A3
3 dopamine catabolic process GO:0042420 9.16 COMT SLC6A3
4 chemical synaptic transmission GO:0007268 9.02 CORT GABRR3 GAD2 HCRT HRH3
5 nuclear membrane organization GO:0071763 8.96 TOR1A TOR1B

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 8.62 CORT HCRT

Sources for Kleine-Levin Hibernation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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