ALG11-CDG
ORPHA:280071DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)7
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0003160Abnormal isoelectric focusing of serum transferrin
HP:0003642Type I transferrin isoform profile
HP:0008947Floppy infant
HP:0012760Reduced social responsiveness
Частый (30–79%)7
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000504Abnormality of vision
HP:0001276Hypertonia
HP:0001347Hyperreflexia
HP:0001999Abnormal facial shape
HP:0011968Feeding difficulties
Периодический (5–29%)26
HP:0000278Retrognathia
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000486Strabismus
HP:0000958Dry skin
HP:0001251Ataxia
HP:0001508Failure to thrive
HP:0002059Cerebral atrophy
HP:0002179Opisthotonus
HP:0002282Gray matter heterotopia
HP:0002375Hypokinesia
HP:0002500Abnormal cerebral white matter morphology
HP:0002509Limb hypertonia
HP:0002572Episodic vomiting
HP:0002650Scoliosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003186Inverted nipples
HP:0005968Temperature instability
HP:0008000Decreased corneal reflex
HP:0008936Axial hypotonia
HP:0009124Abnormal adipose tissue morphology
HP:0010851EEG with burst suppression
HP:0011842Abnormality of skeletal morphology
HP:0012448Delayed myelination
HP:0012704Widened subarachnoid space
HP:0012762Cerebral white matter atrophy
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)