ALG8-CDG
ORPHA:79325DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)48
Очень частый (80–99%)3
HP:0000707Abnormality of the nervous system
HP:0001252Hypotonia
HP:0001999Abnormal facial shape
Частый (30–79%)15
HP:0000478Abnormality of the eye
HP:0000518Cataract
HP:0000969Edema
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001541Ascites
HP:0001622Premature birth
HP:0001789Hydrops fetalis
HP:0001873Thrombocytopenia
HP:0002902Hyponatremia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003256Abnormality of the coagulation cascade
HP:0003642Type I transferrin isoform profile
HP:0011024Abnormality of the gastrointestinal tract
HP:0011121Abnormal skin morphology
Периодический (5–29%)30
HP:0000158Macroglossia
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000488Retinopathy
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000973Cutis laxa
HP:0001001Abnormality of subcutaneous fat tissue
HP:0001156Brachydactyly
HP:0001251Ataxia
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0001562Oligohydramnios
HP:0001762Talipes equinovarus
HP:0001903Anemia
HP:0001929Reduced factor XI activity
HP:0001976Reduced antithrombin III activity
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002352Leukoencephalopathy
HP:0002415Leukodystrophy
HP:0003186Inverted nipples
HP:0005543Reduced protein C activity
HP:0011968Feeding difficulties
HP:0012385Camptodactyly
HP:0100678Premature skin wrinkling
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)