Kleine-Levin Hibernation Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases
Aliases & Descriptions for Kleine-Levin Hibernation Syndrome:
Orphanet epidemiological data:53
Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Adult,Childhood
kleine-levin hibernation syndrome:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases
Rare neurological diseases
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.
UMLS symptoms related to Kleine-Levin Hibernation Syndrome:sleep disturbances
Drugs for Kleine-Levin Hibernation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Kleine-Levin Hibernation Syndrome
MalaCards organs/tissues related to Kleine-Levin Hibernation Syndrome:35
Brain, Hypothalamus, Thalamus
MGI Mouse Phenotypes related to Kleine-Levin Hibernation Syndrome:40
Search GEO for disease gene expression data for Kleine-Levin Hibernation Syndrome.
Pathways related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Kleine-Levin Hibernation Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet