SRD5A3-CDG
ORPHA:324737DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)4
HP:0000648Optic atrophy
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0003642Type I transferrin isoform profile
Частый (30–79%)12
HP:0000518Cataract
HP:0000572Visual loss
HP:0000589Coloboma
HP:0000639Nystagmus
HP:0001251Ataxia
HP:0001317Abnormal cerebellum morphology
HP:0001935Microcytic anemia
HP:0001999Abnormal facial shape
HP:0007766Optic disc hypoplasia
HP:0008064Ichthyosis
HP:0008947Floppy infant
HP:0012443Abnormality of brain morphology
Периодический (5–29%)14
HP:0000510Rod-cone dystrophy
HP:0000821Hypothyroidism
HP:0000824Decreased response to growth hormone stimulation test
HP:0000982Palmoplantar keratoderma
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001928Abnormality of coagulation
HP:0001976Reduced antithrombin III activity
HP:0002334Abnormality of the cerebellar vermis
HP:0002808Kyphosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0005107Abnormal sacrum morphology
HP:0005585Spotty hyperpigmentation
HP:0030680Abnormal cardiovascular system morphology
Исключён (0%)3
HP:0000365Hearing impairment
HP:0000677Oligodontia
HP:0001595Abnormality of the hair
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | Worldwide | Family(ies) |
| 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)