X-linked hypophosphatemia
ORPHA:89936DiseaseX-linked dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)6
HP:0000117Renal phosphate wasting
HP:0002148Hypophosphatemia
HP:0002748Rickets
HP:0003127Hypocalciuria
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0006490Abnormality of lower-limb metaphyses
Частый (30–79%)20
HP:0000121Nephrocalcinosis
HP:0000694Odontodysplasia
HP:0000897Rachitic rosary
HP:0001510Growth delay
HP:0002653Bone pain
HP:0002829Arthralgia
HP:0002857Genu valgum
HP:0002970Genu varum
HP:0002979Bowing of the legs
HP:0003498Disproportionate short stature
HP:0003856Upper limb metaphyseal widening
HP:0004349Reduced bone mineral density
HP:0005930Abnormality of epiphysis morphology
HP:0006487Bowing of the long bones
HP:0008117Shortening of the talar neck
HP:0008144Flattening of the talar dome
HP:0010299Abnormality of dentin
HP:0025335Delayed ability to stand
HP:0030757Tooth abscess
HP:0031936Delayed ability to walk
Периодический (5–29%)23
HP:0006640Multiple ribs fractures
HP:0006432Trapezoidal distal femoral condyles
HP:0007099Chiari type I malformation
HP:0008442Vertebral hyperostosis
HP:0012378Fatigue
HP:0012449Sacroiliac joint synovitis
HP:0025369Thick growth plates
HP:0100686Enthesitis
HP:6000407Elevated circulating fibroblast growth factor 23 concentration
HP:0000360Tinnitus
HP:0000787Nephrolithiasis
HP:0000867Secondary hyperparathyroidism
HP:0000920Enlargement of the costochondral junction
HP:0001324Muscle weakness
HP:0001363Craniosynostosis
HP:0001369Arthritis
HP:0001376Limitation of joint mobility
HP:0002007Frontal bossing
HP:0002015Dysphagia
HP:0002176Spinal cord compression
HP:0002360Sleep abnormality
HP:0002869Flared iliac wings
HP:0003416Spinal canal stenosis
Очень редкий (1–4%)3
HP:0000407Sensorineural hearing impairment
HP:0005789Generalized osteosclerosis
HP:0100658Cellulitis
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.89 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.54 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.66 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 4.5 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.14 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)