PMM2-CDG
ORPHA:79318DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)86
Очень частый (80–99%)3
HP:0000218High palate
HP:0000486Strabismus
HP:0000582Upslanted palpebral fissure
Частый (30–79%)31
HP:0001382Joint hypermobility
HP:0000154Wide mouth
HP:0000219Thin upper lip vermilion
HP:0000276Long face
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000448Prominent nose
HP:0000463Anteverted nares
HP:0000565Esotropia
HP:0000750Delayed speech and language development
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0001321Cerebellar hypoplasia
HP:0001763Pes planus
HP:0001999Abnormal facial shape
HP:0002013Vomiting
HP:0002751Kyphoscoliosis
HP:0003186Inverted nipples
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0008936Axial hypotonia
HP:0009125Lipodystrophy
HP:0011220Prominent forehead
HP:0011968Feeding difficulties
HP:0012448Delayed myelination
HP:0100807Long fingers
Периодический (5–29%)41
HP:0000044Hypogonadotropic hypogonadism
HP:0000091Abnormal renal tubule morphology
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000377Abnormal pinna morphology
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000510Rod-cone dystrophy
HP:0000518Cataract
HP:0000545Myopia
HP:0000842Hyperinsulinemia
HP:0000845Elevated circulating growth hormone concentration
HP:0000855Insulin resistance
HP:0000870Increased circulating prolactin concentration
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001320Cerebellar vermis hypoplasia
HP:0001395Hepatic fibrosis
HP:0001508Failure to thrive
HP:0001698Pericardial effusion
HP:0001929Reduced factor XI activity
HP:0001945Fever
HP:0001976Reduced antithrombin III activity
HP:0002098Respiratory distress
HP:0002280Enlarged cisterna magna
HP:0002828Multiple joint contractures
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0003073Hypoalbuminemia
HP:0005562Multiple renal cysts
HP:0008734Decreased testicular size
HP:0009830Peripheral neuropathy
HP:0010463Aplasia of the ovary
HP:0011443Abnormality of coordination
HP:0011842Abnormality of skeletal morphology
HP:0011858Reduced factor IX activity
HP:0011951Aspiration pneumonia
HP:0012509Reduced thyroxin-binding globulin
HP:0012882Hyperplastic labia majora
HP:0030146Abnormal liver parenchyma morphology
HP:0030609Photoreceptor layer loss on macular OCT
Очень редкий (1–4%)11
HP:0000926Platyspondyly
HP:0001004Lymphedema
HP:0001305Dandy-Walker malformation
HP:0001639Hypertrophic cardiomyopathy
HP:0001681Angina pectoris
HP:0001701Pericarditis
HP:0002170Intracranial hemorrhage
HP:0002625Deep venous thrombosis
HP:0012050Anasarca
HP:0031404Impaired antigen-specific response
HP:0040238Impaired neutrophil chemotaxis
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.73 | Italy | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)