Multiple epiphyseal dysplasia type 5
ORPHA:93311DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)23
Очень частый (80–99%)2
HP:0001385Hip dysplasia
HP:0008828Delayed proximal femoral epiphyseal ossification
Частый (30–79%)9
HP:0001288Gait disturbance
HP:0001384Abnormality of the hip joint
HP:0002857Genu valgum
HP:0002970Genu varum
HP:0003088Premature osteoarthritis
HP:0003502Mild short stature
HP:0003839Abnormality of upper limb epiphysis morphology
HP:0010631Abnormality of the epiphyses of the feet
HP:0030839Knee pain
Периодический (5–29%)11
HP:0001387Joint stiffness
HP:0003170Abnormality of the acetabulum
HP:0003184Decreased hip abduction
HP:0003365Arthralgia of the hip
HP:0004268Osteoarthritis of the small joints of the hand
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0005877Multiple small vertebral fractures
HP:0008419Intervertebral disc degeneration
HP:0008800Limited hip movement
HP:0030840Ankle pain
HP:0001288Gait disturbance
Очень редкий (1–4%)1
HP:0003418Back pain
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | Worldwide | Family(ies) |
| 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)