ALG2-CDG
ORPHA:79326DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)2
HP:0003642Type I transferrin isoform profile
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)15
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000518Cataract
HP:0000565Esotropia
HP:0000612Iris coloboma
HP:0000707Abnormality of the nervous system
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001928Abnormality of coagulation
HP:0001999Abnormal facial shape
HP:0002521Hypsarrhythmia
HP:0011344Severe global developmental delay
Периодический (5–29%)8
HP:0002079Hypoplasia of the corpus callosum
HP:0002240Hepatomegaly
HP:0006808Cerebral hypomyelination
HP:0006956Dilation of lateral ventricles
HP:0012469Infantile spasms
HP:0012704Widened subarachnoid space
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0030890Hyperintensity of cerebral white matter on MRI
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Case(s) |
| 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)