COG1-CDG
ORPHA:263508DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Частый (30–79%)23
HP:0000201Pierre-Robin sequence
HP:0000219Thin upper lip vermilion
HP:0000319Smooth philtrum
HP:0000358Posteriorly rotated ears
HP:0000470Short neck
HP:0000902Rib fusion
HP:0000938Osteopenia
HP:0001103Abnormal macular morphology
HP:0001256Intellectual disability, mild
HP:0001320Cerebellar vermis hypoplasia
HP:0001508Failure to thrive
HP:0001762Talipes equinovarus
HP:0001999Abnormal facial shape
HP:0002092Pulmonary arterial hypertension
HP:0002280Enlarged cisterna magna
HP:0003026Short long bone
HP:0003316Butterfly vertebrae
HP:0004582Irregularity of vertebral bodies
HP:0008897Postnatal growth retardation
HP:0008905Rhizomelia
HP:0011995Atrial septal dilatation
HP:0012301Type II transferrin isoform profile
HP:0030282Posterior rib gap
Периодический (5–29%)20
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000253Progressive microcephaly
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000475Broad neck
HP:0000494Downslanted palpebral fissures
HP:0001290Generalized hypotonia
HP:0001433Hepatosplenomegaly
HP:0002342Intellectual disability, moderate
HP:0002673Coxa valga
HP:0002751Kyphoscoliosis
HP:0003180Flat acetabular roof
HP:0003422Vertebral segmentation defect
HP:0007033Cerebellar dysplasia
HP:0007112Temporal cortical atrophy
HP:0008551Microtia
HP:0011342Mild global developmental delay
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)