Multiple osteochondromas
ORPHA:321DiseaseAutosomal dominantChildhood
Ассоциированные гены2
Фенотипы (HPO)56
Облигатный (100%)1
HP:0030431Osteochondroma
Частый (30–79%)10
HP:0001376Limitation of joint mobility
HP:0002763Abnormal cartilage morphology
HP:0002815Abnormality of the knee
HP:0002823Abnormality of femur morphology
HP:0003330Abnormal bone structure
HP:0003959Deformed forearm bones
HP:0004302Functional motor deficit
HP:0004322Short stature
HP:0012531Pain
HP:0040069Abnormal lower limb bone morphology
Периодический (5–29%)24
HP:0001369Arthritis
HP:0002673Coxa valga
HP:0002857Genu valgum
HP:0002991Abnormal fibula morphology
HP:0002992Abnormality of tibia morphology
HP:0003016Metaphyseal widening
HP:0003026Short long bone
HP:0003326Myalgia
HP:0003474Somatic sensory dysfunction
HP:0003977Deformed radius
HP:0005922Abnormal hand morphology
HP:0006385Short lower limbs
HP:0006487Bowing of the long bones
HP:0008800Limited hip movement
HP:0009821Forearm undergrowth
HP:0009826Limb undergrowth
HP:0010049Short metacarpal
HP:0010501Limitation of knee mobility
HP:0025232Bursitis
HP:0030883Femoroacetabular impingement
HP:0032510Tendon pain
HP:0040071Abnormal morphology of ulna
HP:0100555Asymmetric growth
HP:0100559Lower limb asymmetry
Очень редкий (1–4%)21
HP:0000016Urinary retention
HP:0000896Rib exostoses
HP:0000918Scapular exostoses
HP:0001191Abnormal carpal morphology
HP:0001850Abnormality of the tarsal bones
HP:0002015Dysphagia
HP:0002107Pneumothorax
HP:0002144Tethered cord
HP:0002176Spinal cord compression
HP:0002318Cervical myelopathy
HP:0003396Syringomyelia
HP:0003406Peripheral nerve compression
HP:0004684Talipes valgus
HP:0005214Intestinal obstruction
HP:0006765Chondrosarcoma
HP:0008443Spinal deformities
HP:0012151Hemothorax
HP:0020110Bone fracture
HP:0031625Pseudoaneurysm
HP:0040163Abnormal pelvis bone morphology
HP:0100749Chest pain
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 100 | Specific population | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.9 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.35 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | 3 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)