Kleine-Levin Hibernation Syndrome

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OMIM 57 148840 Disease Ontology 12 DOID:0060165 Orphanet 59 ORPHA33543 UMLS via Orphanet 74 C0206085 ICD10 via Orphanet 34 G47.8

MESH via Orphanet 45 D017593 MedGen 42 C0206085 SNOMED-CT via HPO 69 263681008 286933003 267023007 58424009 72405004 more UMLS 73 C0206085 C2936703

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 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 Biogenic Amine Synthesis. The drugs Technetium Tc 99m bicisate and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include brain, thalamus and hypothalamus, and related phenotypes are polyphagia and confusion

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.

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

Clinical features from OMIM:

148840

#	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

Search NIH Clinical Center for Kleine-Levin Hibernation Syndrome

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