Oncogenic osteomalacia
ORPHA:352540DiseaseNot applicableAll ages
Фенотипы (HPO)35
Очень частый (80–99%)6
HP:0000117Renal phosphate wasting
HP:0001324Muscle weakness
HP:0002148Hypophosphatemia
HP:0002756Pathologic fracture
HP:0003109Hyperphosphaturia
HP:0003155Elevated circulating alkaline phosphatase concentration
Частый (30–79%)9
HP:0000121Nephrocalcinosis
HP:0002653Bone pain
HP:0002659Increased susceptibility to fractures
HP:0002749Osteomalacia
HP:0003701Proximal muscle weakness
HP:0006487Bowing of the long bones
HP:0010622Neoplasm of the skeletal system
HP:0012052Low serum calcitriol
HP:6000489Abnormal circulating fibroblast growth factor 23 concentration
Периодический (5–29%)18
HP:0000768Pectus carinatum
HP:0000787Nephrolithiasis
HP:0001288Gait disturbance
HP:0001510Growth delay
HP:0001760Abnormal foot morphology
HP:0001850Abnormality of the tarsal bones
HP:0002093Respiratory insufficiency
HP:0002669Osteosarcoma
HP:0002808Kyphosis
HP:0002823Abnormality of femur morphology
HP:0002901Hypocalcemia
HP:0002982Tibial bowing
HP:0002991Abnormal fibula morphology
HP:0004912Hypophosphatemic rickets
HP:0010734Fibrous dysplasia of the bones
HP:0011847Giant cell tumor of bone
HP:0012288Neoplasm of head and neck
HP:0040163Abnormal pelvis bone morphology
Очень редкий (1–4%)2
HP:0003468Abnormal vertebral morphology
HP:0030731Carcinoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 400 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 1 000 000 | 0.7 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)