collagen synthesis disorders

Question 1

Osteogenesis Imperfecta

Answer 1

AD; COL1A1/COL1A2 mutation; brittle bones, blue sclera, hearing loss, dental imperfections

Question 2

Ehlers-Danlos Syndrome (Classical Type)

Answer 2

AD; COL5A1/COL5A2 mutation; hyperextensible skin, hypermobile joints, easy bruising

Question 3

Ehlers-Danlos Syndrome (Vascular Type)

Answer 3

AD; COL3A1 mutation; fragile vessels, aneurysms, easy bruising, translucent skin

Question 4

Alport Syndrome

Answer 4

X-linked; COL4A5 mutation; progressive nephritis, sensorineural hearing loss, ocular abnormalities

Question 5

Goodpasture Syndrome

Answer 5

Autoimmune; anti-COL4 antibodies; rapidly progressive glomerulonephritis, pulmonary hemorrhage

Question 6

Scurvy

Answer 6

Vitamin C deficiency; defective proline and lysine hydroxylation; bleeding gums, corkscrew hairs, poor wound healing

Question 7

Menkes Disease

Answer 7

X-linked; ATP7A mutation; defective copper transport, impaired lysyl oxidase function; brittle hair, growth failure, hypotonia

Question 8

COL1A1/COL1A2 Mutation

Answer 8

Osteogenesis Imperfecta

Question 9

COL5A1/COL5A2 Mutation

Answer 9

Ehlers-Danlos Syndrome (Classical Type)

Question 10

COL3A1 Mutation

Answer 10

Ehlers-Danlos Syndrome (Vascular Type)

Question 11

COL4A5 Mutation

Answer 11

Alport Syndrome

Question 12

Anti-COL4 Antibodies

Answer 12

Goodpasture Syndrome

Question 13

Vitamin C Deficiency

Answer 13

Scurvy

Question 14

ATP7A Mutation

Answer 14

Menkes Disease

Question 15

impaired lysine-hydroxylysine cross-linking of tropocollagen (e.g., due to enzyme deficiencies), stable collagen fibrils cannot be formed, leading to the characteristic presentation seen in…

Answer 15

ehlers danlos

Question 16

Fibrillin-1 glycoprotein production is disrupted in patients with

Answer 16

Marfan syndrome

Question 17

α-Collagen triple helix formation is disrupted in patients with

Answer 17

osteogenesis imperfecta