Hereditary hypophosphatemic rickets with hypercalciuria
ORPHA:157215DiseaseAutosomal dominant, Autosomal recessiveChildhood, Infancy
Ассоциированные гены2
Фенотипы (HPO)21
Очень частый (80–99%)9
HP:0002148Hypophosphatemia
HP:0002150Hypercalciuria
HP:0003109Hyperphosphaturia
HP:0004912Hypophosphatemic rickets
HP:0010639Elevated alkaline phosphatase of bone origin
HP:0031415High serum calcitriol
HP:0031425Increased circulating beta-C-terminal telopeptide level
HP:0031428Increased circulating osteocalcin level
HP:0031817Decreased circulating parathyroid hormone level
Частый (30–79%)7
HP:0000787Nephrolithiasis
HP:0000924Abnormality of the skeletal system
HP:0001510Growth delay
HP:0002653Bone pain
HP:0002749Osteomalacia
HP:0004349Reduced bone mineral density
HP:0012408Medullary nephrocalcinosis
Периодический (5–29%)5
HP:0000897Rachitic rosary
HP:0002515Waddling gait
HP:0002756Pathologic fracture
HP:0002979Bowing of the legs
HP:0004322Short stature
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)