Diseases associated with Collagen

DISEASES ASSOCIATED WITH COLLAGEN

TYPE OF COLLAGEN	GENE OR ENZYME	DISEASE
Type I	COL1A1 & COL1A2	Osteogenesis imperfect, osteoporosis, Ehlers-Dahlos Syndrome
Type II	COL2A1	Osteoarthritis
Type III	COL3A1	Ehlers- Dahlos Syndrome
Type IV	COL4A3- COL4A6	Alport syndrome
Lysyl hydroxylase	Lysyl hydroxylase	Ehlers-Dahlos Syndrome, Scurvy
Lysyloxidase	Lysyloxidase	Menke’s disease
Type VII	COL7A1	Epidermolysis bullosa

Defect in Type I Collagen leads to osteogenesis imperfect, osteoporosis, Ehlers- Dahlos syndrome.
Defect in Type II collagen leads to osteoarthritis.
Defect in Type III collagen leads to Ehlers-Dahlos syndrome
Defect in Type IV collagen leads to Alport Syndrome
Defect in Lysyl hydroxylase leads to Ehlers- Dahlos Syndrome, Scurvy.
Defect in Lysyloxidase leads to Menke’s disease.

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