MCID: KLN009
MIFTS: 50

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 54 59 44 15 73
Familial Kleine-Levin Syndrome 53 73
Familial Hibernation Syndrome 53
Kleine Levin Syndrome 53
Kleinelevin Syndrome 76

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
MeSH 44 D017593
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 recurrent 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 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 polyphagia and confusion

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 : 76 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 31.6 HLA-DQB1 HCRT
2 recurrent hypersomnia 30.8 RPS6KB2 LMOD3 HLA-DQB2 HLA-DQB1 HCRT
3 narcolepsy 30.8 SLC6A3 HLA-DQB1 HCRT COMT
4 idiopathic hypersomnia 30.7 HLA-DQB1 HCRT
5 schizophrenia 30.0 TPH1 SLC6A3 HTR7 HRH3 GAD2 COMT
6 encephalitis 10.6
7 autism 10.4
8 bipolar disorder 10.4
9 hypothalamic disease 10.4
10 depression 10.4
11 encephalopathy 10.4
12 narcolepsy 2 10.3 HLA-DQB1 HCRT
13 narcolepsy 1 10.3 HLA-DQB1 HCRT
14 maturity-onset diabetes of the young, type 14 10.2 HLA-DQB1 HLA-DQB2
15 multiple sclerosis 10.2
16 holt-oram syndrome 10.2
17 prader-willi syndrome 10.2
18 deficiency anemia 10.2
19 sleep apnea 10.2
20 iron deficiency anemia 10.2
21 iron metabolism disease 10.2
22 purpura 10.2
23 viral encephalitis 10.2
24 influenza 10.2
25 migraine with brainstem aura 10.2
26 perry syndrome 10.2 TPH1 SLC6A3 HCRT
27 neurotic excoriation 10.2 KCNJ11 HTR7
28 type 1 diabetes mellitus 6 10.1 HLA-DQB2 HLA-DQB1
29 cardiac sarcoidosis 10.1 SMUG1 HLA-DQB1
30 brunner syndrome 10.1 TPH1 HTR7 COMT
31 personality disorder 10.1 TPH1 SLC6A3 COMT
32 conduct disorder 10.1 TPH1 SLC6A3 COMT
33 rem sleep behavior disorder 10.1 SLC6A3 HCRT
34 rectosigmoid junction neoplasm 10.1 SMUG1 KCNJ11
35 tobacco addiction 10.1 TPH1 SLC6A3 COMT
36 celiac disease 1 10.1 TOR1A HLA-DQB2 HLA-DQB1
37 psychotic disorder 10.1 COMT SLC6A3 TPH1
38 separation anxiety disorder 10.1 SLC6A3 HTR7 CORT
39 acute endophthalmitis 10.0 TOR1B TOR1A
40 restless legs syndrome 10.0 POMC HCRT SLC6A3
41 obsessive-compulsive disorder 10.0 TPH1 SLC6A3 COMT
42 eating disorder 10.0 SLC6A3 POMC COMT
43 anomalous left coronary artery from the pulmonary artery 10.0 SMUG1 KCNJ11
44 attention deficit-hyperactivity disorder 10.0 TPH1 SLC6A3 HRH3 COMT
45 anorexia nervosa 10.0 COMT HCRT POMC
46 testicular leydig cell tumor 10.0 SMUG1 POMC
47 mood disorder 10.0 COMT POMC TPH1
48 glucose metabolism disease 10.0 POMC KCNJ11 GAD2
49 acquired metabolic disease 10.0 POMC KCNJ11 GAD2
50 pericardial tuberculosis 10.0 SMUG1 POMC

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 10.29 COMT CORT
2 Decreased viability GR00301-A 10.29 RPS6KB2
3 Decreased viability GR00342-S-3 10.29 RPS6KB2
4 Decreased viability GR00381-A-1 10.29 CORT HLA-DQB1 HLA-DQB2 RHCE
5 Decreased viability GR00381-A-2 10.29 CORT
6 Decreased viability GR00381-A-3 10.29 CORT HLA-DQB1 RHCE
7 Decreased viability GR00402-S-2 10.29 COMT CORT DHDDS FAM83D GAD2 HCRT
8 no effect GR00402-S-1 9.62 COMT CORT DHDDS FAM83D GAD2 HCRT

MGI Mouse Phenotypes related to Kleine-Levin Hibernation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 COMT CORT GAD2 HCRT HLA-DQB1 HRH3
2 growth/size/body region MP:0005378 10.03 CORT GAD2 HCRT HLA-DQB1 HRH3 KCNJ11
3 homeostasis/metabolism MP:0005376 10.03 COMT CORT GAD2 HCRT HLA-DQB1 HRH3
4 cardiovascular system MP:0005385 10.02 COMT HCRT HLA-DQB1 HRH3 KCNJ11 LMOD3
5 endocrine/exocrine gland MP:0005379 9.92 COMT CORT GAD2 HLA-DQB1 KCNJ11 POMC
6 muscle MP:0005369 9.61 GAD2 HCRT HLA-DQB1 KCNJ11 LMOD3 RPS6KB2
7 nervous system MP:0003631 9.32 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 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:

41
Thalamus, Brain, Testes, Hypothalamus, Eye, Skin, Tongue

Publications for Kleine-Levin Hibernation Syndrome

Articles related to Kleine-Levin Hibernation Syndrome:

(show top 50) (show all 233)
# Title Authors Year
1
Kleine-Levin Syndrome. ( 28216256 )
2018
2
The sleep architecture of Saudi Arabian patients with Kleine-Levin syndrome. ( 29332107 )
2018
3
The clinical characteristics of Kleine-Levin syndrome according to ethnicity and geographic location. ( 29397778 )
2018
4
A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge. ( 29436797 )
2018
5
Kleine-Levin syndrome: clues to aetiology. ( 29532411 )
2018
6
Breathing abnormalities during sleep in Kleine-Levin Syndrome: fact or coincidence? ( 29553974 )
2018
7
IV steroids during long episodes of Kleine-Levin syndrome. ( 29572278 )
2018
8
Kleine-Levin syndrome: A neuropsychiatric disorder. ( 29606318 )
2018
9
Emerging psychiatric disorders in Kleine-Levin syndrome. ( 29655261 )
2018
10
Kleine-Levin syndrome: the contribution of PET scan and hydrogen breath test for small intestinal bacterial overgrowth. ( 29773218 )
2018
11
Kleine-Levin syndrome is associated with LMOD3 variants. ( 29923248 )
2018
12
Neuroimaging in the Kleine-Levin Syndrome. ( 30030664 )
2018
13
Fluctuating CSF hypocretin-1 levels in mild brain trauma-induced Kleine-Levin syndrome. ( 30103953 )
2018
14
[Kleine-Levin syndrome: immunogenetic hypothesis]. ( 28896006 )
2017
15
Usefulness of brain SPECT imaging in the study of recurrent hypersomnia: Kleine-Levin syndrome. ( 28869046 )
2017
16
Neuroimaging of Narcolepsy and Kleine-Levin Syndrome. ( 28778234 )
2017
17
FDG Brain PET/CT Revealing Bilateral Thalamostriatal Activation During a Symptomatic Episode in a Patient With Kleine-Levin Syndrome. ( 28221196 )
2017
18
Kleine-Levin syndrome; An update and mini-review. ( 28434769 )
2017
19
Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome. ( 28629702 )
2017
20
Kleine-Levin syndrome: A neurological rarity. ( 28681768 )
2017
21
The "Known Unknowns" of Kleine-Levin Syndrome: A Review and Future Prospects. ( 28778233 )
2017
22
Kleine-Levin syndrome elicited by encephalopathy with reversible splenial lesion. ( 28804979 )
2017
23
Successful Long-term Management of a Child with Kleine-Levin Syndrome with Low-dose Lithium. ( 28852256 )
2017
24
Atypical Kleine-Levin syndrome: An elusive entity? ( 29026774 )
2017
25
New hypothesis on pontine-frontal eye field connectivity in Kleine-Levin syndrome. ( 27230978 )
2016
26
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. ( 27090505 )
2016
27
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
28
Kleine-Levin Syndrome: An Overview and Relevance to Nursing Practice. ( 26935190 )
2016
29
Kleine-Levin syndrome. Familial cases and comparison with sporadic cases. ( 26739970 )
2016
30
Pharmacological treatment for Kleine-Levin syndrome. ( 27153153 )
2016
31
Anti-N-Methyl-d-Aspartate Receptor Encephalitis Presenting With Features of Kleine-Levin Syndrome and Demyelination. ( 26922652 )
2016
32
Kleine-Levin Syndrome. ( 27137943 )
2016
33
Migraine with brainstem aura presenting as recurrent hypersomnia (Kleine-Levin syndrome). ( 27343267 )
2016
34
Cerebrospinal Fluid Orexin A Levels and Autonomic Function in Kleine-Levin Syndrome. ( 26943469 )
2016
35
Kleine-Levin Syndrome. ( 27073070 )
2016
36
Prevalence and Mimics of Kleine-Levin Syndrome: A Survey in French-Speaking Switzerland. ( 27250808 )
2016
37
Familial Kleine-Levin Syndrome: A Specific Entity? ( 27253765 )
2016
38
A Polysomnography Study of Kleine-Levin Syndrome in a Single Center. ( 27364793 )
2016
39
An unusual occurrence of Kleine-Levin syndrome in a man with refractory immune thrombocytopenic purpura: a case report. ( 25885480 )
2015
40
Successful Use of Valproate in Kleine-Levin Syndrome: A Case Report and Review of Cases Reported from India. ( 26664089 )
2015
41
Treatment of Kleine-Levin Syndrome with Aripiprazole. ( 26091200 )
2015
42
Preliminary results on CSF biomarkers for hypothalamic dysfunction in Kleine-Levin syndrome. ( 25454350 )
2015
43
Long-Term Cognitive Impairment in Kleine-Levin Syndrome. ( 26414895 )
2015
44
Time to find a biomarker in Kleine-Levin Syndrome. ( 26459683 )
2015
45
Kleine-Levin syndrome in 120 patients: differential diagnosis and long episodes. ( 25559212 )
2015
46
Lithium treatment of Kleine-Levin syndrome: An advance for a disorder of hypersomnolence. ( 26453646 )
2015
47
Kleine-Levin Syndrome. ( 26055863 )
2015
48
Do the Symptoms of Kleine-Levin Syndrome Correlate With the Hypometabolism of the Thalamus on FDG PET? ( 26562572 )
2015
49
Differential Diagnosis of Kleine-Levin Syndrome. ( 26933566 )
2015
50
Kleine-Levin Syndrome in an 8-Year-Old Girl with Autistic Disorder: Does Autism Account a Primary or Secondary Cause? ( 26664444 )
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

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 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.32 HLA-DQB1 HLA-DQB2
3 neurotransmitter biosynthetic process GO:0042136 9.26 GAD2 SLC6A3
4 dopamine catabolic process GO:0042420 9.16 COMT SLC6A3
5 chemical synaptic transmission GO:0007268 9.02 CORT GAD2 HCRT HRH3 HTR7
6 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 MHC class II receptor activity GO:0032395 8.62 HLA-DQB1 HLA-DQB2

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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