PGM3-CDG
ORPHA:443811DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)63
Очень частый (80–99%)7
HP:0000964Eczematoid dermatitis
HP:0001581Recurrent skin infections
HP:0002205Recurrent respiratory infections
HP:0002719Recurrent infections
HP:0002960Autoimmunity
HP:0031292Cutaneous abscess
HP:0032218Decreased proportion of CD4-positive T cells
Частый (30–79%)18
HP:0005403Decreased total T cell count
HP:0006532Recurrent pneumonia
HP:0011343Moderate global developmental delay
HP:0031402Reduced antigen-specific T cell proliferation
HP:0045080Decreased proportion of CD3-positive T cells
HP:0100806Sepsis
HP:0200029Vasculitis in the skin
HP:0000389Chronic otitis media
HP:0001047Atopic dermatitis
HP:0001251Ataxia
HP:0001508Failure to thrive
HP:0001888Lymphopenia
HP:0002342Intellectual disability, moderate
HP:0002718Recurrent bacterial infections
HP:0002923Rheumatoid factor positive
HP:0003212Increased circulating IgE level
HP:0003237Increased circulating IgG level
HP:0004429Recurrent viral infections
Периодический (5–29%)32
HP:0000218High palate
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000793Membranoproliferative glomerulonephritis
HP:0000924Abnormality of the skeletal system
HP:0001260Dysarthria
HP:0001336Myoclonus
HP:0001875Decreased total neutrophil count
HP:0001878Hemolytic anemia
HP:0001880Eosinophilia
HP:0001882Leukopenia
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0001999Abnormal facial shape
HP:0002099Asthma
HP:0002110Bronchiectasis
HP:0002665Lymphoma
HP:0002841Recurrent fungal infections
HP:0003193Allergic rhinitis
HP:0003261Increased circulating IgA level
HP:0004430Severe combined immunodeficiency
HP:0004789Lactose intolerance
HP:0005528Bone marrow hypocellularity
HP:0007083Hyperactive patellar reflex
HP:0008587Mild neurosensory hearing impairment
HP:0011109Chronic sinusitis
HP:0031393Abnormal proportion of CD8 T cells
HP:0031394Abnormal CD4:CD8 ratio
HP:0040148Cortical myoclonus
HP:0040218Reduced natural killer cell count
HP:0045025Narrow palpebral fissure
HP:0200042Skin ulcer
HP:0200101Decreased/absent ankle reflexes
Очень редкий (1–4%)6
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0002020Gastroesophageal reflux
HP:0002754Osteomyelitis
HP:0004322Short stature
HP:0100633Esophagitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)