AAED1
Description of AAED1
AAED1 (articular and extra-articular Ehlers-Danlos syndrome, classic type) is a genetic disorder that affects the connective tissues in the body, including the skin, joints, blood vessels, and internal organs. People with AAED1 have mutations in the COL5A1 or COL5A2 genes, which provide instructions for making type V collagen, a protein that is essential for the strength and flexibility of connective tissues.
Associated Diseases
AAED1 is associated with a number of other health conditions, including:
- Joint pain and instability
- Hypermobility (excessive flexibility)
- Skin fragility and bruising
- Mitral valve prolapse
- Gastrointestinal problems
- Chronic fatigue
Did you Know ?
AAED1 affects about 1 in 50,000 people worldwide. It is more common in women than in men.
