ALG1-CDG
ORPHA:79327DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)4
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
Частый (30–79%)13
HP:0000253Progressive microcephaly
HP:0000478Abnormality of the eye
HP:0000486Strabismus
HP:0000924Abnormality of the skeletal system
HP:0001256Intellectual disability, mild
HP:0001871Abnormality of blood and blood-forming tissues
HP:0001999Abnormal facial shape
HP:0002028Chronic diarrhea
HP:0002650Scoliosis
HP:0003073Hypoalbuminemia
HP:0011024Abnormality of the gastrointestinal tract
HP:0011344Severe global developmental delay
HP:0410263Brain imaging abnormality
Периодический (5–29%)16
HP:0000077Abnormality of the kidney
HP:0000083Renal insufficiency
HP:0000100Nephrotic syndrome
HP:0000639Nystagmus
HP:0001272Cerebellar atrophy
HP:0001376Limitation of joint mobility
HP:0001410Decreased liver function
HP:0001627Abnormal heart morphology
HP:0001638Cardiomyopathy
HP:0002059Cerebral atrophy
HP:0002243Protein-losing enteropathy
HP:0002719Recurrent infections
HP:0002721Immunodeficiency
HP:0002808Kyphosis
HP:0002878Respiratory failure
HP:0100806Sepsis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 57 | 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)