ALG3-CDG
ORPHA:79321DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)45
Облигатный (100%)1
HP:0012379Abnormal enzyme/coenzyme activity
Очень частый (80–99%)6
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0002060Abnormal cerebral morphology
HP:0002719Recurrent infections
HP:0011024Abnormality of the gastrointestinal tract
HP:0011968Feeding difficulties
Частый (30–79%)14
HP:0000119Abnormality of the genitourinary system
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000366Abnormality of the nose
HP:0000377Abnormal pinna morphology
HP:0000478Abnormality of the eye
HP:0000818Abnormality of the endocrine system
HP:0000938Osteopenia
HP:0001250Seizure
HP:0001410Decreased liver function
HP:0002086Abnormality of the respiratory system
HP:0002813Abnormality of limb bone morphology
HP:0030680Abnormal cardiovascular system morphology
HP:0040064Abnormality of limbs
Периодический (5–29%)7
HP:0001276Hypertonia
HP:0001285Spastic tetraparesis
HP:0001332Dystonia
HP:0001871Abnormality of blood and blood-forming tissues
HP:0003186Inverted nipples
HP:0012444Brain atrophy
HP:0045005Neural tube defect
Очень редкий (1–4%)17
HP:0000158Macroglossia
HP:0000172Abnormality of the uvula
HP:0000218High palate
HP:0000518Cataract
HP:0000639Nystagmus
HP:0001010Hypopigmentation of the skin
HP:0001305Dandy-Walker malformation
HP:0001638Cardiomyopathy
HP:0002079Hypoplasia of the corpus callosum
HP:0002089Pulmonary hypoplasia
HP:0002804Arthrogryposis multiplex congenita
HP:0005871Metaphyseal chondrodysplasia
HP:0009125Lipodystrophy
HP:0012110Hypoplasia of the pons
HP:0012157Subcortical cerebral atrophy
HP:0012305Coarctation of the descending aortic arch
HP:0012762Cerebral white matter atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)