Hypocalcemic vitamin D-resistant rickets
ORPHA:93160DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)11
HP:0000843Hyperparathyroidism
HP:0001373Joint dislocation
HP:0002148Hypophosphatemia
HP:0002653Bone pain
HP:0002749Osteomalacia
HP:0002757Recurrent fractures
HP:0002797Osteolysis
HP:0002901Hypocalcemia
HP:0003330Abnormal bone structure
HP:0012062Bone cyst
HP:0100670Rough bone trabeculation
Частый (30–79%)13
HP:0000268Dolichocephaly
HP:0000765Abnormal thorax morphology
HP:0000787Nephrolithiasis
HP:0000944Abnormal metaphysis morphology
HP:0000951Abnormality of the skin
HP:0001288Gait disturbance
HP:0001596Alopecia
HP:0002970Genu varum
HP:0003272Abnormality of the hip bone
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0006323Premature loss of primary teeth
HP:0009124Abnormal adipose tissue morphology
Периодический (5–29%)4
HP:0000164Abnormality of the dentition
HP:0002007Frontal bossing
HP:0002650Scoliosis
HP:0002857Genu valgum
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)