Gamma-aminobutyric acid transaminase deficiency
ORPHA:2066DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)22
Облигатный (100%)1
HP:0200134Epileptic encephalopathy
Очень частый (80–99%)7
HP:0001252Hypotonia
HP:0002353EEG abnormality
HP:0007266Cerebral dysmyelination
HP:0011344Severe global developmental delay
HP:0032531Elevated CSF gamma-aminobutyric acid concentration
HP:0410053Elevated circulating gamma-aminobutyric acid concentration
HP:0500253Increased level of gamma-aminobutyric acid in urine
Частый (30–79%)11
HP:0000098Tall stature
HP:0000845Elevated circulating growth hormone concentration
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001347Hyperreflexia
HP:0001508Failure to thrive
HP:0002059Cerebral atrophy
HP:0007272Progressive psychomotor deterioration
HP:0008872Feeding difficulties in infancy
HP:0025430High-pitched cry
HP:0100786Hypersomnia
Периодический (5–29%)3
HP:0001254Lethargy
HP:0001272Cerebellar atrophy
HP:0001273Abnormal corpus callosum morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)