MGAT2-CDG
ORPHA:79329DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)57
Очень частый (80–99%)3
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0003655Reduced activity of N-acetylglucosaminyltransferase II
Частый (30–79%)4
HP:0000253Progressive microcephaly
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001508Failure to thrive
Периодический (5–29%)48
HP:0000358Posteriorly rotated ears
HP:0000194Open mouth
HP:0000268Dolichocephaly
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000363Abnormality of earlobe
HP:0000395Prominent antihelix
HP:0000444Convex nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0000527Long eyelashes
HP:0000678Dental crowding
HP:0000767Pectus excavatum
HP:0000818Abnormality of the endocrine system
HP:0000938Osteopenia
HP:0001007Hirsutism
HP:0001156Brachydactyly
HP:0001290Generalized hypotonia
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001789Hydrops fetalis
HP:0001892Abnormal bleeding
HP:0001929Reduced factor XI activity
HP:0001965Abnormality of the scalp
HP:0002020Gastroesophageal reflux
HP:0002098Respiratory distress
HP:0002521Hypsarrhythmia
HP:0002557Hypoplastic nipples
HP:0002578Gastroparesis
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003186Inverted nipples
HP:0003347Impaired lymphocyte transformation with phytohemagglutinin
HP:0003540Impaired platelet aggregation
HP:0004313Decreased circulating antibody level
HP:0004315Decreased circulating IgG level
HP:0005387Combined immunodeficiency
HP:0009765Low hanging columella
HP:0010990Abnormality of the common coagulation pathway
HP:0011471Gastrostomy tube feeding in infancy
HP:0011675Arrhythmia
HP:0011968Feeding difficulties
HP:0012171Stereotypical hand wringing
HP:0012444Brain atrophy
HP:0012469Infantile spasms
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0200117Recurrent upper and lower respiratory tract infections
HP:0500173Reflex asystolic syncope
Исключён (0%)2
HP:0001321Cerebellar hypoplasia
HP:0009830Peripheral neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)