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.

WES Whole Exome Sequencing