DK1-CDG
ORPHA:91131DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)4
HP:0001644Dilated cardiomyopathy
HP:0003642Type I transferrin isoform profile
HP:0012379Abnormal enzyme/coenzyme activity
HP:0031319Cardiomyocyte hypertrophy
Частый (30–79%)7
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0001635Congestive heart failure
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0008064Ichthyosis
HP:0011342Mild global developmental delay
HP:0031329Interstitial cardiac fibrosis
Периодический (5–29%)21
HP:0000253Progressive microcephaly
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000729Autistic behavior
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0001270Motor delay
HP:0001344Absent speech
HP:0002069Bilateral tonic-clonic seizure
HP:0002521Hypsarrhythmia
HP:0003323Progressive muscle weakness
HP:0004322Short stature
HP:0006829Severe muscular hypotonia
HP:0007359Focal-onset seizure
HP:0008947Floppy infant
HP:0010841Multifocal epileptiform discharges
HP:0010845EEG with generalized slow activity
HP:0011675Arrhythmia
HP:0012469Infantile spasms
HP:0025335Delayed ability to stand
HP:0031936Delayed ability to walk
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)