ALG6-CDG
ORPHA:79320DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Облигатный (100%)1
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)7
HP:0000707Abnormality of the nervous system
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0011968Feeding difficulties
HP:0012758Neurodevelopmental delay
Периодический (5–29%)19
HP:0000158Macroglossia
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000486Strabismus
HP:0000924Abnormality of the skeletal system
HP:0000952Jaundice
HP:0001392Abnormality of the liver
HP:0001929Reduced factor XI activity
HP:0001999Abnormal facial shape
HP:0002243Protein-losing enteropathy
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0003073Hypoalbuminemia
HP:0003256Abnormality of the coagulation cascade
HP:0003642Type I transferrin isoform profile
HP:0004855Reduced protein S activity
HP:0005543Reduced protein C activity
HP:0006118Shortening of all distal phalanges of the fingers
HP:0040246Reduced antithrombin antigen
Очень редкий (1–4%)8
HP:0000510Rod-cone dystrophy
HP:0000546Retinal degeneration
HP:0001156Brachydactyly
HP:0001321Cerebellar hypoplasia
HP:0002625Deep venous thrombosis
HP:0003563Decreased LDL cholesterol concentration
HP:0008373Puberty and gonadal disorders
HP:0030348Increased circulating androgen concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 54 | 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)