COL1A1
Associated conditions:
- Vascular Ehlers-Danlos syndrome
- Classical Ehlers-Danlos syndrome
- Osteogenesis imperfecta
COL1A1 makes a main building block of type I collagen, the fibrous scaffold that gives strength to bone, skin, tendons, and blood vessels. Genetic changes in this gene are associated with an autosomal dominant condition, producing weak or scarce collagen that causes osteogenesis imperfecta with fragile, easily broken bones, or a form of Ehlers-Danlos syndrome. Knowing your genetic status enables bone-protecting care and injury prevention.
Conditions linked to COL1A1
Vascular Ehlers-Danlos syndrome
Vascular Ehlers-Danlos syndrome is a serious form affecting the walls of arteries and hollow organs, which can tear unexpectedly. Carriers need specialist care, blood-pressure control and avoidance of high-impact strain, with a clear emergency plan.
Classical Ehlers-Danlos syndrome
Classical Ehlers-Danlos syndrome affects collagen, making skin stretchy and fragile and joints very flexible and prone to dislocation. Care focuses on protecting joints and skin and managing pain, guided by a clinical team.
Osteogenesis imperfecta
Osteogenesis imperfecta, or brittle bone disease, affects collagen and makes bones break easily. Severity varies widely; care focuses on protecting bones, physiotherapy and, where needed, medication to strengthen them.
