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41 Cards in this Set

  • Front
  • Back
Fibrillar Collagen Types:
1-3, 5, 11
Basement Membrane Collagens
Fiber-associated collagen:
Short Chain Collagen
Where is Type 4 collagen found?
What disease associated w/ it?
All Basement Membranes; Alports
What makes type 9 Collagen distinct?
Flexible - has a kink; associated with Type 2
Collagen Type found in bone/skin/tendons:
Type 1 - Associated with ED/OI
Collagen Type found in Vitreous
2 - assoc. w/ osteoarthritis, chondr.
Collagen Type found in large hollow organs
3 - ED Type 4
Collagen type found in corneas
5 - EDI or II
Collagen type found in Basement Membranes
4 - alport's
Collagen type found in cartilage
3, 9-11
3 Types of collagen disorders:
1. Too much
2. Too little
3. Abnormal
4 types of Collagen - Too Much
1. Scleroderma
2. Myelofibrosis
3. Interstitial Lung Fibrosis
4. Liver cirrhosis
Excess collagen in multiple organs
2 Diseases with not enough Collagen:
1. Scurvy
2. Milwaukee Shoulder syndrome
Scurvy is caused by:
not enough Vit c; enzymes for proline/lysine hydroxylation are inactive.
Milwaukee Shoulder Syndrome is caused by:
Excess collagenase and protease; forms CaPO4 crystals and dissolution of rotator cuff.
2 TRUE collagen disorders - abnormal:
1. Osteogenesis imperfecta
2. Ehlers danlos
Genetic inheritence in OI1 and OI2:
OI1: autosomal dominant

OI2: autosomal recessive
Main phenotypes in
OI = brittle/malformed bones

ED = joint/skin laxity
Classical ED
-Inheritance pattern
-Collagen type associated
-Types I and II
-Autosom. Dominant
-Abnormal Type V collagen
V forms fibrils w/ I and III
Majority of ED cases are:
classic type
ED types associated with:
Classic = 1,2
Hypermobility = 3
Vascular = 4
Kyphoscoliotic = 5
Autosomal recessive ED
Symptoms of classic ED
Hypermobility of joints, pregnancy membrane ruptures
Distinction of vascular ED
no hypermobility of joints
Type 6 ED
Kyphoscoliotic - Autosom. Rec.
-Deficient Lysyl Hydroxylase
1/4 = auto dom

2/3 = auto rec
Lethal OI:
Type 2
Important skeletal abnormality in OI:
basilar invagination leading to spinal cord lesions
Vascular ED type 4 associated with collagen type:
Classic Ehlers Danlos AND OI types 1/2 associate w/ collagen type:
Abnormalities of Collagen type 2
Osteoarthritis, Chondrodysplasia
Alports associated w/ collagen type:
4 - ALL basement membrane
Ehlers Danlos types 1/2 are associated with collagen type:
Marfan's is a problem with:
Inheritence pattern of Marfan's
Autosom. Dom - one of the most common inherited connective tissue disorders
Cause of marfan's:
Mutation in fibrillin-1
Symptoms of Marfan's
Cardiac - enlarged aorta;
Very large hands
Treatment for Marfans
Beta-blockers to reduce force of heart contractions