Lafora disease
ORPHA:501DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| EPM2A | EPM2A glucan phosphatase, laforin | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607566 |
| NHLRC1 | NHL repeat containing E3 ubiquitin protein ligase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608072 |
Фенотипы (HPO)35
Облигатный (100%)1
HP:0100318Lafora bodies
Очень частый (80–99%)1
HP:0001250Seizure
Частый (30–79%)19
HP:0000712Emotional lability
HP:0000716Depression
HP:0000726Dementia
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001268Mental deterioration
HP:0001288Gait disturbance
HP:0001289Confusion
HP:0001312Giant somatosensory evoked potentials
HP:0002100Recurrent aspiration pneumonia
HP:0002123Generalized myoclonic seizure
HP:0002133Status epilepticus
HP:0002315Headache
HP:0002367Visual hallucinations
HP:0002521Hypsarrhythmia
HP:0002540Inability to walk
HP:0025357Erratic myoclonus
HP:0040288Nasogastric tube feeding
Периодический (5–29%)14
HP:0001336Myoclonus
HP:0001399Hepatic failure
HP:0002069Bilateral tonic-clonic seizure
HP:0002121Generalized non-motor (absence) seizure
HP:0002360Sleep abnormality
HP:0002384Focal impaired awareness seizure
HP:0007270Atypical absence seizure
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0007359Focal-onset seizure
HP:0007537Severe photosensitivity
HP:0010819Atonic seizure
HP:0011165Focal sensory seizure with visual features
HP:0012444Brain atrophy
HP:0031358Vegetative state
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Cases/families | — | 300 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 1 000 000 | 0.02 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)