MCID: KLN009
MIFTS: 46

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 57 53
Kleine-Levin Syndrome 57 12 75 54 59 44 15 17 72
Familial Kleine-Levin Syndrome 53 72
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:

Disease Ontology 12 DOID:0060165
OMIM 57 148840
MeSH 44 D017593
MESH via Orphanet 45 D017593
ICD10 via Orphanet 34 G47.8
UMLS via Orphanet 73 C0206085
Orphanet 59 ORPHA33543
MedGen 42 C0206085
UMLS 72 C0206085 C2936703

Summaries for Kleine-Levin Hibernation Syndrome

NIH Rare Diseases : 53 Kleine Levin syndrome is 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 sleep disorder. 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 : 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.

Wikipedia : 75 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 111)
# Related Disease Score Top Affiliating Genes
1 hypersomnia 33.0 HLA-DQB1 HCRT
2 sleep disorder 31.7 NPS HRH3 HCRT
3 recurrent hypersomnia 31.6 RPS6KB2 LMOD3 HLA-DQB1 HCRT
4 idiopathic hypersomnia 31.6 HLA-DQB1 HCRT
5 rem sleep behavior disorder 31.1 SLC6A3 HCRT
6 cannabis dependence 31.0 HCRT COMT
7 mood disorder 30.8 TPH1 POMC COMT
8 psychotic disorder 30.7 TPH1 SLC6A3 COMT
9 eating disorder 30.7 SLC6A3 POMC COMT
10 bipolar disorder 30.3 TPH1 SLC6A3 COMT
11 mental depression 30.3 TPH1 POMC COMT
12 anxiety 30.0 TPH1 NPS COMT
13 migraine with or without aura 1 29.7 TPH1 NPS HRH3 HCRT COMT
14 schizophrenia 29.5 TPH1 SLC6A3 HRH3 GAD2 COMT
15 rare sleep disorder 10.8
16 narcolepsy 2 10.7 HLA-DQB1 HCRT
17 narcolepsy 10.7
18 narcolepsy 1 10.6 HLA-DQB1 HCRT
19 encephalitis 10.6
20 amnestic disorder 10.6
21 acute disseminated encephalomyelitis 10.5 HLA-DQB1 HCRT
22 major affective disorder 8 10.5
23 major affective disorder 9 10.5
24 sleep apnea 10.5
25 encephalopathy 10.5
26 prader-willi syndrome 10.4
27 autism 10.4
28 bipolar i disorder 10.4
29 head injury 10.4
30 immunoglobulin alpha deficiency 10.3 TOR1A HLA-DQB1
31 central nervous system disease 10.3 SLC6A3 HRH3 HCRT
32 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.3 TPH1 GAD2
33 oppositional defiant disorder 10.3 SLC6A3 COMT
34 fetal erythroblastosis 10.2 RHCE POMC
35 neurofibromatosis, type ii 10.2
36 spondyloarthropathy 1 10.2
37 autoimmune disease 10.2
38 holt-oram syndrome 10.2
39 hydrocephalus, normal-pressure 10.2
40 body mass index quantitative trait locus 1 10.2
41 allergic rhinitis 10.2
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
43 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.2
44 deficiency anemia 10.2
45 autism spectrum disorder 10.2
46 migraine with aura 10.2
47 tonsillitis 10.2
48 nasopharyngitis 10.2
49 hydrocephalus 10.2
50 depersonalization disorder 10.2

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:

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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

148840

MGI Mouse Phenotypes related to Kleine-Levin Hibernation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 COMT GAD2 HCRT HLA-DQB1 HRH3 LMOD3
2 homeostasis/metabolism MP:0005376 10.07 COMT FAM53B GAD2 HCRT HLA-DQB1 HRH3
3 growth/size/body region MP:0005378 10.06 GAD2 HCRT HLA-DQB1 HRH3 LMOD3 POMC
4 cardiovascular system MP:0005385 10.02 COMT HCRT HLA-DQB1 HRH3 LMOD3 POMC
5 muscle MP:0005369 9.81 GAD2 HCRT HLA-DQB1 LMOD3 RPS6KB2 SLC6A3
6 nervous system MP:0003631 9.65 COMT FAM53B GAD2 HCRT HLA-DQB1 HRH3
7 respiratory system MP:0005388 9.1 COMT GAD2 HCRT HLA-DQB1 STAC3 TPH1

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 Constitution of a Clinical, Neurophysiological and Biological Cohort for Chronic Sleep Disorders Responsible of Hypersomnolence Recruiting NCT03998020
3 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:

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

Publications for Kleine-Levin Hibernation Syndrome

Articles related to Kleine-Levin Hibernation Syndrome:

(show top 50) (show all 355)
# Title Authors PMID Year
1
Kleine-Levin syndrome: a systematic study of 108 patients. 38 8
18438947 2008
2
Polysomnography in Kleine-Levin syndrome. 38 8
18316691 2008
3
Kleine-Levin syndrome: history and brief review. 38 8
18667831 2008
4
Episodic diencephalic hypoperfusion in Kleine-Levin syndrome. 38 8
16944679 2006
5
Familial Kleine-Levin syndrome: two siblings with unusually long hypersomnic spells. 38 8
12470186 2002
6
Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic analyses. 38 8
12473762 2002
7
A pathologic basis for Kleine-Levin syndrome. 38 8
6948538 1982
8
Kleine-Levin Syndrome. 38 6
28216256 2018
9
Kleine-Levin Syndrome. 38 6
27137943 2016
10
Kleine-Levin Syndrome. 38 6
26055863 2015
11
Periodic hypersomnia and megaphagia in adolescent males. 8
14023898 1962
12
Kleine-Levin syndrome is associated with LMOD3 variants. 38
29923248 2019
13
Excessive daytime sleepiness in narcolepsy and central nervous system hypersomnias. 38
31154621 2019
14
The neurophysiological basis of excessive daytime sleepiness: suggestions of an altered state of consciousness. 38
31140116 2019
15
New-Onset Psychosis in a Child with Suspected Kleine-Levin Syndrome. 38
30843731 2019
16
An Atypical Case of Kleine-Levin Syndrome. 38
30664337 2019
17
Clinical neurophysiology of CNS hypersomnias. 38
31307613 2019
18
Putative Mechanisms of Action and Clinical Use of Lithium in Children and Adolescents: A Critical Review. 38
29256353 2019
19
Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome. 38
30588389 2018
20
Emerging psychiatric disorders in Kleine-Levin syndrome. 38
29655261 2018
21
Clinical Sleep-Wake Disorders I: Focus on Hypersomnias and Movement Disorders During Sleep. 38
30341725 2018
22
Sleeping beauty syndrome presenting with insomnia. 38
30317200 2018
23
The clinical characteristics of Kleine-Levin syndrome according to ethnicity and geographic location. 38
29397778 2018
24
Kleine-Levin syndrome: clues to aetiology. 38
29532411 2018
25
Fluctuating CSF hypocretin-1 levels in mild brain trauma-induced Kleine-Levin syndrome. 38
30103953 2018
26
Breathing abnormalities during sleep in Kleine-Levin Syndrome: fact or coincidence? 38
29553974 2018
27
Neuroimaging in the Kleine-Levin Syndrome. 38
30030664 2018
28
Kleine-Levin syndrome: the contribution of PET scan and hydrogen breath test for small intestinal bacterial overgrowth. 38
29773218 2018
29
[Kleine Levin syndrome: Review of diagnosed cases of Buenos Aires, Argentina]. 38
30778405 2018
30
Kleine-Levin syndrome: A neuropsychiatric disorder. 38
29606318 2018
31
IV steroids during long episodes of Kleine-Levin syndrome. 38
29572278 2018
32
The sleep architecture of Saudi Arabian patients with Kleine-Levin syndrome. 38
29332107 2018
33
A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge. 38
29436797 2018
34
Central Disorders of Hypersomnolence, Restless Legs Syndrome, and Surgery With General Anesthesia: Patient Perceptions. 38
29615884 2018
35
Kleine-Levin syndrome; An update and mini-review. 38
28434769 2017
36
The "Known Unknowns" of Kleine-Levin Syndrome: A Review and Future Prospects. 38
28778233 2017
37
Neuroimaging of Narcolepsy and Kleine-Levin Syndrome. 38
28778234 2017
38
[Kleine-Levin syndrome: immunogenetic hypothesis]. 38
28896006 2017
39
Usefulness of brain SPECT imaging in the study of recurrent hypersomnia: Kleine-Levin syndrome. 38
28869046 2017
40
Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome. 38
28629702 2017
41
Kleine-Levin syndrome elicited by encephalopathy with reversible splenial lesion. 38
28804979 2017
42
Narcolepsy and Other Central Hypersomnias. 38
28777172 2017
43
Successful Long-term Management of a Child with Kleine-Levin Syndrome with Low-dose Lithium. 38
28852256 2017
44
Kleine-Levin syndrome: A neurological rarity. 38
28681768 2017
45
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. 38
27090505 2017
46
FDG Brain PET/CT Revealing Bilateral Thalamostriatal Activation During a Symptomatic Episode in a Patient With Kleine-Levin Syndrome. 38
28221196 2017
47
Sleeping Beauty Syndrome: A Case Report and Review of Female Cases Reported from India. 38
28615776 2017
48
[Clinical presentation of Kleine-Levin syndrome]. 38
28441852 2017
49
[Kleine-Levin syndrome: differential diagnosis in recurrent encephalitic syndromes in adolescence]. 38
28345736 2017
50
[A young boy with periodic strange behavior and hypersomnia: Kleine-Levin syndrome]. 38
28880359 2017

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 TPH1 TOR1A SLC6A3 GABRR3
2 secretory granule GO:0030141 8.8 TOR1A POMC HCRT

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide signaling pathway GO:0007218 9.5 POMC NPS HCRT
2 chemical synaptic transmission GO:0007268 9.46 HRH3 HCRT GAD2 GABRR3
3 chaperone cofactor-dependent protein refolding GO:0051085 9.4 TOR1B TOR1A
4 skeletal muscle fiber development GO:0048741 9.37 STAC3 LMOD3
5 neurotransmitter biosynthetic process GO:0042136 9.26 SLC6A3 GAD2
6 dopamine catabolic process GO:0042420 8.96 SLC6A3 COMT
7 nuclear membrane organization GO:0071763 8.62 TOR1B TOR1A

Sources for Kleine-Levin Hibernation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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