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Kleine-Levin syndrome

ORPHA:33543DiseaseAdolescent, Adult, Childhood

Ассоциированные гены (1)

TRANK1
tetratricopeptide repeat and ankyrin repeat containing 1
Major susceptibility factor in
OMIM: 619316

Фенотипы (35)

Очень частый (80–99%)3
HP:0001289Confusion
HP:0007200Episodic hypersomnia
HP:0100543Cognitive impairment
Частый (30–79%)19
HP:5200321Amplification of sexual behavior
HP:0000613Photophobia
HP:0000713Agitation
HP:0000716Depression
HP:0000737Irritability
HP:0000739Anxiety
HP:0000741Apathy
HP:0000975Hyperhidrosis
HP:0001945Fever
HP:0002167Abnormality of speech or vocalization
HP:0002315Headache
HP:0002591Polyphagia
HP:0007057Poor hand-eye coordination
HP:0008762Repetitive compulsive behavior
HP:0010534Transient global amnesia
HP:0012658Abnormal brain FDG positron emission tomography
HP:0031249Parageusia
HP:0034004Parosmia
HP:0100738Abnormal eating behavior
Периодический (5–29%)13
HP:0000622Blurred vision
HP:0000746Delusion
HP:0001350Slurred speech
HP:0001959Polydipsia
HP:0002018Nausea
HP:0002300Mutism
HP:0002519Hypnagogic hallucinations
HP:0004396Poor appetite
HP:0025233Sleep paralysis
HP:0030221Sweet craving
HP:0031217Hot flashes
HP:0046504Decreased libido
HP:5200218Derealization

Эпидемиология (2)

Point prevalence
1-9 / 1 000 000
Europe
Point prevalence
1-9 / 1 000 000
France

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы