Hypocalcemic vitamin D-dependent rickets
ORPHA:289157DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)46
Облигатный (100%)3
HP:0002748Rickets
HP:0002901Hypocalcemia
HP:0012052Low serum calcitriol
Очень частый (80–99%)28
HP:0000867Secondary hyperparathyroidism
HP:0000886Deformed rib cage
HP:0000897Rachitic rosary
HP:0000920Enlargement of the costochondral junction
HP:0001270Motor delay
HP:0001281Tetany
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0002148Hypophosphatemia
HP:0002653Bone pain
HP:0002659Increased susceptibility to fractures
HP:0002663Delayed epiphyseal ossification
HP:0002749Osteomalacia
HP:0002752Sparse bone trabeculae
HP:0002753Thin bony cortex
HP:0002909Generalized aminoaciduria
HP:0002970Genu varum
HP:0002980Femoral bowing
HP:0002982Tibial bowing
HP:0003020Enlargement of the wrists
HP:0003029Enlargement of the ankles
HP:0003106Subperiosteal bone resorption
HP:0003165Elevated circulating parathyroid hormone level
HP:0005042Irregular, rachitic-like metaphyses
HP:0005469Flat occiput
HP:0008897Postnatal growth retardation
HP:0010537Wide cranial sutures
HP:0010639Elevated alkaline phosphatase of bone origin
Частый (30–79%)7
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001638Cardiomyopathy
HP:0001931Hypochromic anemia
HP:0002007Frontal bossing
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0004322Short stature
Периодический (5–29%)8
HP:0000684Delayed eruption of teeth
HP:0000737Irritability
HP:0001538Protuberant abdomen
HP:0001744Splenomegaly
HP:0001974Leukocytosis
HP:0002199Hypocalcemic seizures
HP:0002240Hepatomegaly
HP:0006297Enamel hypoplasia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)