MOGS-CDG
ORPHA:79330DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Частый (30–79%)12
HP:0000278Retrognathia
HP:0000445Wide nose
HP:0000527Long eyelashes
HP:0001007Hirsutism
HP:0001250Seizure
HP:0001999Abnormal facial shape
HP:0002720Decreased circulating IgA level
HP:0002850Decreased circulating total IgM
HP:0003241External genital hypoplasia
HP:0004313Decreased circulating antibody level
HP:0008947Floppy infant
HP:0012745Short palpebral fissure
Периодический (5–29%)32
HP:0000034Hydrocele testis
HP:0000218High palate
HP:0000269Prominent occiput
HP:0000407Sensorineural hearing impairment
HP:0000648Optic atrophy
HP:0000649Abnormality of visual evoked potentials
HP:0000821Hypothyroidism
HP:0000969Edema
HP:0001332Dystonia
HP:0001433Hepatosplenomegaly
HP:0001561Polyhydramnios
HP:0001596Alopecia
HP:0001631Atrial septal defect
HP:0001640Cardiomegaly
HP:0001712Left ventricular hypertrophy
HP:0001873Thrombocytopenia
HP:0002079Hypoplasia of the corpus callosum
HP:0002098Respiratory distress
HP:0002104Apnea
HP:0002240Hepatomegaly
HP:0002286Fair hair
HP:0002791Hypoventilation
HP:0002943Thoracic scoliosis
HP:0004315Decreased circulating IgG level
HP:0004463Absent brainstem auditory responses
HP:0007430Generalized edema
HP:0010557Overlapping fingers
HP:0012450Chronic constipation
HP:0020110Bone fracture
HP:0031218Inappropriate antidiuretic hormone secretion
HP:0040288Nasogastric tube feeding
HP:0100598Pulmonary edema
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)