Inherited diseases resulting from defects in ECM components Flashcards
1
Q
What is Ehlers-Danlos Syndrome?
A
Hyperextensibility of skin and joints; caused by defect in collagen I, III, and V
2
Q
What is Alport Syndrome?
A
Hereditary nephritis; caused by IV collagen
3
Q
What is Epidermolysis Bullosa?
A
Skin break and blisters from minor traumas; results from mutation in type VII collagen
4
Q
What is Scurvy?
A
Not genetic results from a deficiency in Vitamin C needed as a post-translation enzyme resulting in structure of collagen issues; bleeding gums, poor wound healing and subcutaneous hemorrhaging
5
Q
What is Marfan Syndrome?
A
Mutation in fibrillin-1; some patients will be really tall some really short
