Fibrodysplasia ossificans progressiva
ORPHA:337DiseaseAutosomal dominant, Not applicableChildhood
Ассоциированные гены1
Фенотипы (HPO)35
Облигатный (100%)1
HP:0011986Ectopic ossification
Очень частый (80–99%)11
HP:0001376Limitation of joint mobility
HP:0001482Subcutaneous nodule
HP:0001844Abnormal hallux morphology
HP:0002949Fused cervical vertebrae
HP:0003306Spinal rigidity
HP:0003468Abnormal vertebral morphology
HP:0010054Abnormality of the first metatarsal bone
HP:0010109Short hallux
HP:0011987Ectopic ossification in muscle tissue
HP:0011989Ectopic ossification in ligament tissue
HP:0030431Osteochondroma
Частый (30–79%)11
HP:0000365Hearing impairment
HP:0001172Abnormal thumb morphology
HP:0001385Hip dysplasia
HP:0001596Alopecia
HP:0002093Respiratory insufficiency
HP:0002650Scoliosis
HP:0002659Increased susceptibility to fractures
HP:0003367Abnormal femoral neck morphology
HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux
HP:0030084Clinodactyly
HP:0030838Hip pain
Периодический (5–29%)7
HP:0000787Nephrolithiasis
HP:0001004Lymphedema
HP:0001508Failure to thrive
HP:0001822Hallux valgus
HP:0002625Deep venous thrombosis
HP:0030038Enchondroma
HP:0100240Synostosis of joints
Очень редкий (1–4%)5
HP:0000501Glaucoma
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001903Anemia
HP:0002750Delayed skeletal maturation
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.05 | Worldwide | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.061 | United Kingdom | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.087 | Spain | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.036 | Spain | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.078 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.136 | France | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.085 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)