Multiple epiphyseal dysplasia due to collagen 9 anomaly
ORPHA:166002DiseaseAutosomal dominantAdolescent, Childhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COL9A1 | collagen type IX alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 120210 |
| COL9A2 | collagen type IX alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120260 |
| COL9A3 | collagen type IX alpha 3 chain | Disease-causing germline mutation(s) in | gene with protein product | 120270 |
Фенотипы (HPO)24
Очень частый (80–99%)1
HP:0005930Abnormality of epiphysis morphology
Частый (30–79%)5
HP:0003365Arthralgia of the hip
HP:0009826Limb undergrowth
HP:0012770Reduced arm span
HP:0030839Knee pain
HP:0030973Postexertional malaise
Периодический (5–29%)16
HP:0002515Waddling gait
HP:0002758Osteoarthritis
HP:0002812Coxa vara
HP:0002815Abnormality of the knee
HP:0002857Genu valgum
HP:0002970Genu varum
HP:0003028Abnormality of the ankles
HP:0003045Abnormal patella morphology
HP:0003946Abnormality of the epiphyses of the elbow
HP:0003999Abnormality of radial epiphyses
HP:0004322Short stature
HP:0006055Ulnar deviated club hands
HP:0006190Radially deviated wrists
HP:0009189Fragmentation of the metacarpal epiphyses
HP:0010631Abnormality of the epiphyses of the feet
HP:0010665Bilateral coxa valga
Очень редкий (1–4%)2
HP:0001324Muscle weakness
HP:0003198Myopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 59 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)