Familial acute necrotizing encephalopathy
ORPHA:88619DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)3
HP:0001259Coma
HP:0002922Increased CSF protein concentration
HP:0006846Acute encephalopathy
Частый (30–79%)21
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0001945Fever
HP:0002013Vomiting
HP:0002063Rigidity
HP:0002171Gliosis
HP:0002181Cerebral edema
HP:0002363Abnormal brainstem morphology
HP:0002376Developmental regression
HP:0002510Spastic tetraplegia
HP:0002793Abnormal pattern of respiration
HP:0003324Generalized muscle weakness
HP:0010663Abnormality of thalamus morphology
HP:0011887Choroid hemorrhage
HP:0012747Abnormal brainstem MRI signal intensity
HP:0025404Abnormal visual fixation
HP:0031982Abnormal putamen morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)