Osteoporosis-pseudoglioma syndrome
ORPHA:2788DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)2
HP:0000939Osteoporosis
HP:0002659Increased susceptibility to fractures
Частый (30–79%)17
HP:0001382Joint hypermobility
HP:0000541Retinal detachment
HP:0000938Osteopenia
HP:0001141Severely reduced visual acuity
HP:0002505Loss of ambulation
HP:0002515Waddling gait
HP:0003016Metaphyseal widening
HP:0004327Abnormal vitreous humor morphology
HP:0006367Crumpled long bones
HP:0007875Congenital blindness
HP:0007898Exudative retinopathy
HP:0007957Corneal opacity
HP:0008947Floppy infant
HP:0012052Low serum calcitriol
HP:0012109Angle closure glaucoma
HP:0030490Exudative vitreoretinopathy
HP:0040069Abnormal lower limb bone morphology
Периодический (5–29%)10
HP:0000568Microphthalmia
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0002007Frontal bossing
HP:0002194Delayed gross motor development
HP:0002645Wormian bones
HP:0003366Abnormality of the femoral neck or head region
HP:0004322Short stature
HP:0006934Congenital nystagmus
HP:0030551Visual acuity light perception with projection
Очень редкий (1–4%)5
HP:0000384Preauricular skin tag
HP:0000592Blue sclerae
HP:0008236Isosexual precocious puberty
HP:0030515Moderately reduced visual acuity
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.05 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)