MPDU1-CDG
ORPHA:79323DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)3
HP:0003642Type I transferrin isoform profile
HP:0010864Intellectual disability, severe
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)1
HP:0008947Floppy infant
Периодический (5–29%)22
HP:0000233Thin vermilion border
HP:0000242Parietal bossing
HP:0000260Wide anterior fontanel
HP:0000648Optic atrophy
HP:0000803Renal cortical cysts
HP:0000824Decreased response to growth hormone stimulation test
HP:0000964Eczematoid dermatitis
HP:0001250Seizure
HP:0001276Hypertonia
HP:0002119Ventriculomegaly
HP:0002521Hypsarrhythmia
HP:0003236Elevated circulating creatine kinase concentration
HP:0005478Prominent frontal sinuses
HP:0007965Undetectable visual evoked potentials
HP:0008064Ichthyosis
HP:0008529Absence of acoustic reflex
HP:0011968Feeding difficulties
HP:0012704Widened subarachnoid space
HP:0025474Erythematous plaque
HP:0030353Decreased serum insulin-like growth factor 1
HP:0040189Scaling skin
HP:0040288Nasogastric tube feeding
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)