Collagen - Clinical Correlation

Front 1

Fibrillar Collagen Types:

Back 1

1-3, 5, 11

Front 2

Basement Membrane Collagens

Back 2

4

Front 3

Fiber-associated collagen:

Back 3

9

Front 4

Short Chain Collagen

Back 4

10

Front 5

Where is Type 4 collagen found?
What disease associated w/ it?

Back 5

All Basement Membranes; Alports

Front 6

What makes type 9 Collagen distinct?

Back 6

Flexible - has a kink; associated with Type 2

Front 7

Collagen Type found in bone/skin/tendons:

Back 7

Type 1 - Associated with ED/OI

Front 8

Collagen Type found in Vitreous

Back 8

2 - assoc. w/ osteoarthritis, chondr.

Front 9

Collagen Type found in large hollow organs

Back 9

3 - ED Type 4

Front 10

Collagen type found in corneas

Back 10

5 - EDI or II

Front 11

Collagen type found in Basement Membranes

Back 11

4 - alport's

Front 12

Collagen type found in cartilage

Back 12

3, 9-11

Front 13

3 Types of collagen disorders:

Back 13

1. Too much
2. Too little
3. Abnormal

Front 14

4 types of Collagen - Too Much

Back 14

1. Scleroderma
2. Myelofibrosis
3. Interstitial Lung Fibrosis
4. Liver cirrhosis

Front 15

Scleroderma

Back 15

Excess collagen in multiple organs

Front 16

2 Diseases with not enough Collagen:

Back 16

1. Scurvy
2. Milwaukee Shoulder syndrome

Front 17

Scurvy is caused by:

Back 17

not enough Vit c; enzymes for proline/lysine hydroxylation are inactive.

Front 18

Milwaukee Shoulder Syndrome is caused by:

Back 18

Excess collagenase and protease; forms CaPO4 crystals and dissolution of rotator cuff.

Front 19

2 TRUE collagen disorders - abnormal:

Back 19

1. Osteogenesis imperfecta
2. Ehlers danlos

Front 20

Genetic inheritence in OI1 and OI2:

Back 20

OI1: autosomal dominant

OI2: autosomal recessive

Front 21

Main phenotypes in
-OI
-ED

Back 21

OI = brittle/malformed bones

ED = joint/skin laxity

Front 22

Classical ED
-Type
-Inheritance pattern
-Collagen type associated

Back 22

-Types I and II
-Autosom. Dominant
-Abnormal Type V collagen
V forms fibrils w/ I and III

Front 23

Majority of ED cases are:

Back 23

classic type

Front 24

ED types associated with:
-Classic
-Hypermobility
-Vascular
-Kyphoscoliotic
-Arthroclasia

Back 24

Classic = 1,2
Hypermobility = 3
Vascular = 4
Kyphoscoliotic = 5

Front 25

Autosomal recessive ED

Back 25

6

Front 26

Symptoms of classic ED

Back 26

Hypermobility of joints, pregnancy membrane ruptures

Front 27

Distinction of vascular ED

Back 27

no hypermobility of joints

Front 28

Type 6 ED

Back 28

Kyphoscoliotic - Autosom. Rec.
-Deficient Lysyl Hydroxylase

Front 29

OSTEOGENESIS TYPE INHERITENCE
1
2
3
4

Back 29

1/4 = auto dom

2/3 = auto rec

Front 30

Lethal OI:

Back 30

Type 2

Front 31

Important skeletal abnormality in OI:

Back 31

basilar invagination leading to spinal cord lesions

Front 32

Vascular ED type 4 associated with collagen type:

Back 32

3

Front 33

Classic Ehlers Danlos AND OI types 1/2 associate w/ collagen type:

Back 33

1

Front 34

Abnormalities of Collagen type 2

Back 34

Osteoarthritis, Chondrodysplasia

Front 35

Alports associated w/ collagen type:

Back 35

4 - ALL basement membrane

Front 36

Ehlers Danlos types 1/2 are associated with collagen type:

Back 36

5

Front 37

Marfan's is a problem with:

Back 37

Fibrillin

Front 38

Inheritence pattern of Marfan's

Back 38

Autosom. Dom - one of the most common inherited connective tissue disorders

Front 39

Cause of marfan's:

Back 39

Mutation in fibrillin-1

Front 40

Symptoms of Marfan's

Back 40

Cardiac - enlarged aorta;
Very large hands

Front 41

Treatment for Marfans

Back 41

Beta-blockers to reduce force of heart contractions