B4GALT1-CDG
ORPHA:79332DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)4
HP:0003236Elevated circulating creatine kinase concentration
HP:0008947Floppy infant
HP:0012301Type II transferrin isoform profile
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)12
HP:0008936Axial hypotonia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000545Myopia
HP:0001976Reduced antithrombin III activity
HP:0001999Abnormal facial shape
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003256Abnormality of the coagulation cascade
HP:0003563Decreased LDL cholesterol concentration
HP:0003645Prolonged partial thromboplastin time
HP:0004855Reduced protein S activity
HP:0005543Reduced protein C activity
Периодический (5–29%)18
HP:0000219Thin upper lip vermilion
HP:0000238Hydrocephalus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000821Hypothyroidism
HP:0000969Edema
HP:0001305Dandy-Walker malformation
HP:0001321Cerebellar hypoplasia
HP:0001518Small for gestational age
HP:0001622Premature birth
HP:0001744Splenomegaly
HP:0001892Abnormal bleeding
HP:0002014Diarrhea
HP:0002240Hepatomegaly
HP:0003186Inverted nipples
HP:0005989Redundant neck skin
HP:0011003High myopia
HP:0011123Inflammatory abnormality of the skin
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)