Autosomal recessive hypophosphatemic rickets
ORPHA:289176DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены2
Фенотипы (HPO)37
Облигатный (100%)1
HP:0004912Hypophosphatemic rickets
Очень частый (80–99%)25
HP:0000117Renal phosphate wasting
HP:0000407Sensorineural hearing impairment
HP:0000684Delayed eruption of teeth
HP:0001510Growth delay
HP:0002652Skeletal dysplasia
HP:0002653Bone pain
HP:0002749Osteomalacia
HP:0002812Coxa vara
HP:0002814Abnormality of the lower limb
HP:0002970Genu varum
HP:0003020Enlargement of the wrists
HP:0003109Hyperphosphaturia
HP:0004322Short stature
HP:0004576Sclerotic vertebral endplates
HP:0005096Distal femoral bowing
HP:0005764Polyarticular arthritis
HP:0006463Rickets of the lower limbs
HP:0008732Renal hypophosphatemia
HP:0010639Elevated alkaline phosphatase of bone origin
HP:0011001Increased bone mineral density
HP:0011036Abnormality of renal excretion
HP:0012052Low serum calcitriol
HP:0100511Abnormality of vitamin D metabolism
HP:0100559Lower limb asymmetry
HP:0100671Abnormal trabecular bone morphology
Частый (30–79%)8
HP:0001363Craniosynostosis
HP:0002024Malabsorption
HP:0002982Tibial bowing
HP:0003416Spinal canal stenosis
HP:0030757Tooth abscess
HP:0100036Pseudo-fractures
HP:0100686Enthesitis
HP:0100781Abnormality of the sacroiliac joint
Исключён (0%)3
HP:0001250Seizure
HP:0001324Muscle weakness
HP:0003472Hypocalcemic tetany
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)