Kleine-Levin Hibernation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: KLN009 MIFTS: 49	Kleine-Levin Hibernation Syndrome Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Episodic and paroxysmal disorders

Sleep disorders

Other sleep disorders

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

SNOMED-CT via HPO ⁷⁰ 263681008 267023007 286933003 more

EFO ¹⁷ EFO_1001354

UMLS ⁷⁴ C0206085 C2936703

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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 Technetium Tc 99m bicisate and Radiopharmaceuticals 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 : 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...

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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 65)

#	Related Disease	Score	Top Affiliating Genes
1	hypersomnia	31.8	HLA-DQB1 HCRT
2	idiopathic hypersomnia	31.0	HLA-DQB1 HCRT
3	recurrent hypersomnia	31.0	RPS6KB2 LMOD3 HLA-DQB1 HCRT
4	bipolar disorder	30.6	COMT SLC6A3 TPH1
5	schizophrenia	29.9	COMT GAD2 HRH3 SLC6A3 TPH1
6	encephalitis	10.6
7	narcolepsy	10.5
8	narcolepsy 2	10.4	HLA-DQB1 HCRT
9	narcolepsy 1	10.4	HCRT HLA-DQB1
10	autism	10.4
11	depression	10.4
12	encephalopathy	10.4
13	rem sleep behavior disorder	10.4	HCRT SLC6A3
14	acute disseminated encephalomyelitis	10.3	HCRT HLA-DQB1
15	cannabis dependence	10.3	COMT HCRT
16	immunoglobulin alpha deficiency	10.2	HLA-DQB1 TOR1A
17	perry syndrome	10.2	TPH1 SLC6A3 HCRT
18	central nervous system disease	10.2	HCRT HRH3 SLC6A3
19	multiple sclerosis	10.2
20	holt-oram syndrome	10.2
21	prader-willi syndrome	10.2
22	deficiency anemia	10.2
23	urea cycle disorder	10.2
24	sleep apnea	10.2
25	iron deficiency anemia	10.2
26	patulous eustachian tube	10.2
27	iron metabolism disease	10.2
28	purpura	10.2
29	viral encephalitis	10.2
30	influenza	10.2
31	migraine with brainstem aura	10.2
32	autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	10.2	GAD2 TPH1
33	oppositional defiant disorder	10.2	COMT SLC6A3
34	autoimmune disease of skin and connective tissue	10.2	DHDDS TOR1A
35	cardiac sarcoidosis	10.2	HLA-DQB1 SMUG1
36	fetal erythroblastosis	10.2	POMC RHCE
37	brunner syndrome	10.1	COMT TPH1
38	personality disorder	10.1	TPH1 SLC6A3 COMT
39	conduct disorder	10.1	TPH1 SLC6A3 COMT
40	rh isoimmunization	10.1	POMC RHCE
41	tobacco addiction	10.1	TPH1 SLC6A3 COMT
42	psychotic disorder	10.1	TPH1 SLC6A3 COMT
43	obsessive-compulsive disorder	10.1	COMT SLC6A3 TPH1
44	dystonia 1, torsion, autosomal dominant	10.1	COMT TOR1A
45	adrenal cortical hypofunction	10.1	POMC TOR1A
46	cervical dystonia	10.1	HLA-DQB1 TOR1A
47	extratemporal epilepsy	10.0	SMUG1 TOR1A
48	anorexia nervosa	10.0	COMT HCRT POMC
49	migraine with or without aura 1	10.0	TPH1 HRH3 HCRT COMT
50	eating disorder	10.0	SLC6A3 POMC COMT

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

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Symptoms & Phenotypes for Kleine-Levin Hibernation Syndrome

Human phenotypes related to Kleine-Levin Hibernation Syndrome:

³³

#	Description	HPO Source Accession
1	polyphagia ³³	HP:0002591
2	confusion ³³	HP:0001289
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	10.06	COMT CORT GAD2 HCRT HLA-DQB1 HRH3
2	growth/size/body region	MP:0005378	9.9	CORT GAD2 HCRT HLA-DQB1 HRH3 LMOD3
3	cardiovascular system	MP:0005385	9.86	COMT HCRT HLA-DQB1 HRH3 LMOD3 POMC
4	homeostasis/metabolism	MP:0005376	9.77	COMT CORT GAD2 HCRT HLA-DQB1 HRH3
5	muscle	MP:0005369	9.23	GAD2 HCRT HLA-DQB1 LMOD3 RPS6KB2 SLC6A3

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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

Cochrane evidence based reviews: kleine-levin syndrome

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Genetic Tests for Kleine-Levin Hibernation Syndrome

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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

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Publications for Kleine-Levin Hibernation Syndrome

Articles related to Kleine-Levin Hibernation Syndrome:

(show top 50) (show all 236)

#	Title	Authors	Year
1	An Atypical Case of Kleine-Levin Syndrome. ( 30664337 )	Edaki O...Schenck CH	2019
2	New-Onset Psychosis in a Child with Suspected Kleine-Levin Syndrome. ( 30843731 )	Rice T...Coffey BJ	2019
3	Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome. ( 30588389 )	Bozinov N...Santini V	2018
4	Kleine-Levin Syndrome. ( 28216256 )	Afolabi-Brown O...Mason TBA	2018
5	The sleep architecture of Saudi Arabian patients with Kleine-Levin syndrome. ( 29332107 )	Al Shareef SM...BaHammam AS	2018
6	The clinical characteristics of Kleine-Levin syndrome according to ethnicity and geographic location. ( 29397778 )	Al Shareef SM...BaHammam AS	2018
7	A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge. ( 29436797 )	Mar?i? M...Titli? M	2018
8	Kleine-Levin syndrome: clues to aetiology. ( 29532411 )	AlShareef SM...BaHammam AS	2018
9	Breathing abnormalities during sleep in Kleine-Levin Syndrome: fact or coincidence? ( 29553974 )	Gadoth N	2018
10	IV steroids during long episodes of Kleine-Levin syndrome. ( 29572278 )	L?otard A...Arnulf I	2018
11	Kleine-Levin syndrome: A neuropsychiatric disorder. ( 29606318 )	Arnulf I...Dodet P	2018
12	Emerging psychiatric disorders in Kleine-Levin syndrome. ( 29655261 )	Groos E...Arnulf I	2018
13	Kleine-Levin syndrome: the contribution of PET scan and hydrogen breath test for small intestinal bacterial overgrowth. ( 29773218 )	Melpignano A...Ruffini L	2018
14	Kleine-Levin syndrome is associated with LMOD3 variants. ( 29923248 )	Al Shareef SM...Tafti M	2018
15	Neuroimaging in the Kleine-Levin Syndrome. ( 30030664 )	Engstr?m M...Landtblom AM	2018
16	Fluctuating CSF hypocretin-1 levels in mild brain trauma-induced Kleine-Levin syndrome. ( 30103953 )	Usuda M...Sekijima Y	2018
17	[Kleine-Levin syndrome: immunogenetic hypothesis]. ( 28896006 )	Peraita-Adrados R.	2017
18	Usefulness of brain SPECT imaging in the study of recurrent hypersomnia: Kleine-Levin syndrome. ( 28869046 )	RamA-rez OcaA+a D....Puentes Zarzuela C.	2017
19	Neuroimaging of Narcolepsy and Kleine-Levin Syndrome. ( 28778234 )	Hong S.B.	2017
20	Kleine-Levin syndrome elicited by encephalopathy with reversible splenial lesion. ( 28804979 )	Takayanagi M...Ohura T	2017
21	FDG Brain PET/CT Revealing Bilateral Thalamostriatal Activation During a Symptomatic Episode in a Patient With Kleine-Levin Syndrome. ( 28221196 )	Drouet C...Boulahdour H	2017
22	Kleine-Levin syndrome; An update and mini-review. ( 28434769 )	Gadoth N...Oksenberg A	2017
23	Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome. ( 28629702 )	Maranci JB...Arnulf I	2017
24	Kleine-Levin syndrome: A neurological rarity. ( 28681768 )	Panda S	2017
25	The "Known Unknowns" of Kleine-Levin Syndrome: A Review and Future Prospects. ( 28778233 )	Al Suwayri SM...BaHammam AS	2017
26	Successful Long-term Management of a Child with Kleine-Levin Syndrome with Low-dose Lithium. ( 28852256 )	Parmar A...Sagar R	2017
27	Atypical Kleine-Levin syndrome: An elusive entity? ( 29026774 )	Singh S...Kumar N	2017
28	New hypothesis on pontine-frontal eye field connectivity in Kleine-Levin syndrome. ( 27230978 )	EngstrAPm M....Karlsson T.	2016
29	A &quot;Sleeping Beauty&quot; With a &quot;Heart-Hand&quot;: Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. ( 27090505 )	Gama Marques J....Peralta A.R.	2016
30	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 )	Assi B....Tanoh C.	2016
31	Kleine-Levin Syndrome: An Overview and Relevance to Nursing Practice. ( 26935190 )	Arnone J.M....Conti R.P.	2016
32	Kleine-Levin syndrome. Familial cases and comparison with sporadic cases. ( 26739970 )	Al Suwayri S.M.	2016
33	Pharmacological treatment for Kleine-Levin syndrome. ( 27153153 )	de Oliveira M.M....Prado G.F.	2016
34	Anti-N-Methyl-d-Aspartate Receptor Encephalitis Presenting With Features of Kleine-Levin Syndrome and Demyelination. ( 26922652 )	Feigal J....Preudx^Homme X.	2016
35	Kleine-Levin Syndrome. ( 27137943 )	Miglis M.G....Guilleminault C.	2016
36	Migraine with brainstem aura presenting as recurrent hypersomnia (Kleine-Levin syndrome). ( 27343267 )	Nesbitt A.D....Leschziner G.D.	2016
37	Cerebrospinal Fluid Orexin A Levels and Autonomic Function in Kleine-Levin Syndrome. ( 26943469 )	Wang J.Y....Strohl K.P.	2016
38	Kleine-Levin Syndrome. ( 27073070 )	Sum-Ping O....Guilleminault C.	2016
39	A Polysomnography Study of Kleine-Levin Syndrome in a Single Center. ( 27364793 )	Luo YW...Zhu GX	2016
40	Prevalence and Mimics of Kleine-Levin Syndrome: A Survey in French-Speaking Switzerland. ( 27250808 )	Habra O...Rossetti AO	2016
41	Familial Kleine-Levin Syndrome: A Specific Entity? ( 27253765 )	Nguyen QT...Arnulf I	2016
42	An unusual occurrence of Kleine-Levin syndrome in a man with refractory immune thrombocytopenic purpura: a case report. ( 25885480 )	Amirifard H....Hashemi S.M.	2015
43	Successful Use of Valproate in Kleine-Levin Syndrome: A Case Report and Review of Cases Reported from India. ( 26664089 )	Nebhinani N....Modi M.	2015
44	Treatment of Kleine-Levin Syndrome with Aripiprazole. ( 26091200 )	YA+lmaz S....BilgiAs A.	2015
45	Preliminary results on CSF biomarkers for hypothalamic dysfunction in Kleine-Levin syndrome. ( 25454350 )	Lopez R....Dauvilliers Y.	2015
46	Long-Term Cognitive Impairment in Kleine-Levin Syndrome. ( 26414895 )	Uguccioni G....Arnulf I.	2015
47	Time to find a biomarker in Kleine-Levin Syndrome. ( 26459683 )	Dauvilliers Y....Lopez R.	2015
48	Kleine-Levin syndrome in 120 patients: differential diagnosis and long episodes. ( 25559212 )	Lavault S....Arnulf I.	2015
49	Lithium treatment of Kleine-Levin syndrome: An advance for a disorder of hypersomnolence. ( 26453646 )	Mayer G.	2015
50	Kleine-Levin Syndrome. ( 26055863 )	Arnulf I.	2015

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Genes for Kleine-Levin Hibernation Syndrome

Genes related to Kleine-Levin Hibernation Syndrome (0 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HCRT	Hypocretin Neuropeptide Precursor	Protein Coding	17.23	DISEASES inferred ¹⁵
2	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	17.02	DISEASES inferred ¹⁵
3	LMOD3	Leiomodin 3	Protein Coding	16.57	DISEASES inferred ¹⁵
4	HLA-DQB1	Major Histocompatibility Complex, Class II, DQ Beta 1	Protein Coding	16.02	DISEASES inferred ¹⁵
5	HRH3	Histamine Receptor H3	Protein Coding	15	DISEASES inferred ¹⁵
6	RHCE	Rh Blood Group CcEe Antigens	Protein Coding	14.58	DISEASES inferred ¹⁵
7	SLC6A3	Solute Carrier Family 6 Member 3	Protein Coding	14.56	DISEASES inferred ¹⁵
8	DHDDS	Dehydrodolichyl Diphosphate Synthase Subunit	Protein Coding	14.42	DISEASES inferred ¹⁵
9	TPH1	Tryptophan Hydroxylase 1	Protein Coding	14.39	DISEASES inferred ¹⁵
10	GAD2	Glutamate Decarboxylase 2	Protein Coding	13.78	DISEASES inferred ¹⁵
11	COMT	Catechol-O-Methyltransferase	Protein Coding	13.67	DISEASES inferred ¹⁵
12	TOR1A	Torsin Family 1 Member A	Protein Coding	13.55	DISEASES inferred ¹⁵
13	GABRR3	Gamma-Aminobutyric Acid Type A Receptor Rho3 Subunit (Gene/Pseudogene)	Protein Coding	13.53	DISEASES inferred ¹⁵
14	POMC	Proopiomelanocortin	Protein Coding	13.27	DISEASES inferred ¹⁵
15	SMUG1	Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase 1	Protein Coding	13.26	DISEASES inferred ¹⁵
16	TOR1B	Torsin Family 1 Member B	Protein Coding	5.98	DISEASES inferred ¹⁵
17	CORT	Cortistatin	Protein Coding	4.5	DISEASES inferred ¹⁵

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Variations for Kleine-Levin Hibernation Syndrome

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Expression for Kleine-Levin Hibernation Syndrome

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

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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	Neuroscience ⁴	11.63	COMT GAD2 HCRT POMC TOR1A TPH1
2	Alpha-synuclein signaling ¹	10.76	SLC6A3 TOR1A
3	Neurotransmitter Clearance In The Synaptic Cleft ⁶⁷ Show member pathways Dopamine clearance from the synaptic cleft ⁶⁷ Enzymatic degradation of dopamine by COMT ⁶⁷ Enzymatic degradation of Dopamine by monoamine oxidase ⁶⁷ L-dopa degradation ¹ Metabolism of serotonin ⁶⁷ Serotonin clearance from the synaptic cleft ⁶⁷	10.57	COMT SLC6A3
4	Biogenic Amine Synthesis ¹ Show member pathways catecholamine biosynthesis ¹ Catecholamine biosynthesis ⁶⁷	10.47	COMT GAD2 TPH1

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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

Sources for Kleine-Levin Hibernation Syndrome

¹ BioSystems

² BitterDB

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

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⁴¹ LOVD

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⁵¹ NCIt

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⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia