MCID: KLN009
MIFTS: 37

Kleine-Levin Hibernation Syndrome malady

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

Aliases & Classifications for Kleine-Levin Hibernation Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 48NINDS, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Kleine-Levin Hibernation Syndrome:

Name: Kleine-Levin Hibernation Syndrome 51 47
Kleine-Levin Syndrome 11 48 53 13 67
Familial Kleine-Levin Syndrome 47 67
 
Familial Hibernation Syndrome 47
Kleine Levin Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
kleine-levin syndrome:
Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Adult,Childhood

HPO:

63
kleine-levin hibernation syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 148840
Disease Ontology11 DOID:0060165
Orphanet53 ORPHA33543
UMLS via Orphanet68 C0206085
ICD10 via Orphanet30 G47.8
MESH via Orphanet39 D017593

Summaries for Kleine-Levin Hibernation Syndrome

About this section
NIH Rare Diseases:47 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 schizophrenia and idiopathic juxtafoveal retinal telangiectasia, 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 Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics and Neurotransmitter Clearance In The Synaptic Cleft. Affiliated tissues include brain, hypothalamus and thalamus, and related mouse phenotypes are muscle and growth/size/body region.

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

OMIM:51 The Kleine-Levin hibernation syndrome is a rare disorder that occurs predominantly in males and is characterized by... (148840) more...

NINDS:48 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.

Related Diseases for Kleine-Levin Hibernation Syndrome

About this section

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1schizophrenia29.0COMT, GAD2, HCRT, HTR7, SLC6A3, TPH1
2idiopathic juxtafoveal retinal telangiectasia10.6HCRT, HLA-DQB1
3hypersomnia10.6
4erythematosquamous dermatosis10.5HCRT, SLC6A3
5jaw cancer10.4COMT, HCRT
6encephalitis10.4
7thyroid cancer, childhood10.3COMT, TPH1
8hemorrhagic cystitis10.3COMT, SLC6A3
9hypoxia10.3HCRT, HLA-DQB1
10autism spectrum disorder10.2DHDDS, TOR1A
11gastric body carcinoma10.2HTR7, SLC6A3
12autoinflammation, lipodystrophy, and dermatosis syndrome10.2HLA-DQB1, HLA-DQB2
13oculogyric crisis10.2HLA-DQB1, TOR1A
14autoimmune disease of central nervous system10.2HTR7, POMC
15foster-kennedy syndrome10.2HLA-DQB1, HLA-DQB2
16conjunctival vascular disease10.2POMC, RHCE
17autistic disorder10.2
18recurrent hypersomnia10.2
19narcolepsy10.2
20obsessive-compulsive personality disorder10.1COMT, SLC6A3, TPH1
21chronic cervicitis10.1COMT, SLC6A3, TPH1
22enthesopathy10.1COMT, SLC6A3, TPH1
23parkinsonism-dystonia, infantile10.1COMT, SLC6A3, TPH1
24dressler's syndrome10.1POMC, TOR1A
25aicardi-goutieres syndrome 210.1COMT, SLC6A3, TPH1
26hypertrophy of breast10.1CORT, HTR7, SLC6A3
27pseudohypoparathyroidism10.1POMC, RHCE
28adult brain stem glioma10.1GAD2, SLC6A3, TOR1A
29holt-oram syndrome10.0
30prader-willi syndrome10.0
31deficiency anemia10.0
32bipolar disorder10.0
33sleep apnea10.0
34iron deficiency anemia10.0
35purpura10.0
36cerebritis10.0
37viral encephalitis10.0
38influenza10.0
39idiopathic hypersomnia10.0
40migraine with brainstem aura10.0
41pandas10.0
42encephalopathy10.0
43acatalasemia10.0COMT, HCRT, POMC
44transsexualism9.9HTR7, POMC
45fechtner syndrome9.9COMT, POMC, TPH1
46choledocholithiasis9.9TOR1A, TOR1B
47tongue disease9.9COMT, SLC6A3
48cervix uteri carcinoma in situ9.8COMT, HCRT, HLA-DQB1, SLC6A3, TPH1
49pervasive developmental disorder9.7COMT, HTR7, POMC, SLC6A3
50renal tuberculosis9.7TOR1A, TOR1B

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



Diseases related to kleine-levin hibernation syndrome

Symptoms for Kleine-Levin Hibernation Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

148840

Clinical features from OMIM:

148840

Human phenotypes related to Kleine-Levin Hibernation Syndrome:

 63
id Description HPO Frequency HPO Source Accession
1 confusion63 HP:0001289
2 polyphagia63 HP:0002591
3 vivid hallucinations63 HP:0006803
4 episodic hypersomnia63 HP:0007200

UMLS symptoms related to Kleine-Levin Hibernation Syndrome:


sleep disturbances

Drugs & Therapeutics for Kleine-Levin Hibernation Syndrome

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Technetium Tc 99m bicisate4
2Radiopharmaceuticals485

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

About this section

Anatomical Context for Kleine-Levin Hibernation Syndrome

About this section

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

35
Brain, Hypothalamus, Thalamus

Animal Models for Kleine-Levin Hibernation Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Kleine-Levin Hibernation Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1GAD2, HCRT, HLA-DQB1, RPS6KB2, SLC6A3, STAC3
2MP:00053787.8CORT, GAD2, HCRT, HLA-DQB1, POMC, RPS6KB2
3MP:00053867.4COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR7
4MP:00053767.3COMT, CORT, GAD2, HCRT, HLA-DQB1, HTR7

Publications for Kleine-Levin Hibernation Syndrome

About this section

Variations for Kleine-Levin Hibernation Syndrome

About this section

Expression for genes affiliated with Kleine-Levin Hibernation Syndrome

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

Pathways for genes affiliated with Kleine-Levin Hibernation Syndrome

About this section

GO Terms for genes affiliated with Kleine-Levin Hibernation Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:00426139.9HLA-DQB1, HLA-DQB2
2integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.9HLA-DQB1, HLA-DQB2
3secretory granuleGO:00301419.3HCRT, POMC, TOR1A

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

idNameGO IDScoreTop Affiliating Genes
1ammonium transmembrane transportGO:007248810.4RHCE, SLC6A3
2neurotransmitter biosynthetic processGO:004213610.1GAD2, SLC6A3
3dopamine catabolic processGO:004242010.0COMT, SLC6A3
4nuclear membrane organizationGO:00717639.7TOR1A, TOR1B
5chaperone mediated protein folding requiring cofactorGO:00510859.3TOR1A, TOR1B
6chemical synaptic transmissionGO:00072689.0CORT, GAD2, HCRT, HTR7

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
2neuropeptide hormone activityGO:00051849.2CORT, HCRT, POMC

Sources for Kleine-Levin Hibernation Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet