Collagen - Types and Associated Disorders

Types and Associated Disorders

Collagen occurs in many places throughout the body. Over 90% of the collagen in the body, however, is of type one.

So far, 28 types of collagen have been identified and described. The five most common types are:

Collagen I: skin, tendon, vascular ligature, organs, bone (main component of the organic part of bone)
Collagen II: cartilage (main component of cartilage)
Collagen III: reticulate (main component of reticular fibers), commonly found alongside type I.
Collagen IV: forms bases of cell basement membrane
Collagen V: cell surfaces, hair and placenta

Collagen-related diseases most commonly arise from genetic defects or nutritional deficiencies that affect the biosynthesis, assembly, postranslational modification, secretion, or other processes involved in normal collagen production.

**Genetic Defects of Collagen Genes**
Type	Notes	Gene(s)	Disorders
I	This is the most abundant collagen of the human body. It is present in scar tissue, the end product when tissue heals by repair. It is found in tendons, skin, artery walls, cornea, the endomysium of myofibrils, fibrocartilage, and the organic part of bones and teeth.	COL1A1, COL1A2	Osteogenesis imperfecta, Ehlers–Danlos syndrome, Infantile cortical hyperostosis aka Caffey's disease
II	Hyaline cartilage, makes up 50% of all cartilage protein. Vitreous humour of the eye.	COL2A1	Collagenopathy, types II and XI
III	This is the collagen of granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen is synthesized. Reticular fiber. Also found in artery walls, skin, intestines and the uterus	COL3A1	Ehlers–Danlos syndrome, Dupuytren's contracture
IV	Basal lamina; eye lens. Also serves as part of the filtration system in capillaries and the glomeruli of nephron in the kidney.	COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6	Alport syndrome, Goodpasture's syndrome
V	Most interstitial tissue, assoc. with type I, associated with placenta	COL5A1, COL5A2, COL5A3	Ehlers–Danlos syndrome (Classical)
VI	Most interstitial tissue, assoc. with type I	COL6A1, COL6A2, COL6A3, COL6A5	Ulrich myopathy, Bethlem myopathy, Atopic dermatitis
VII	Forms anchoring fibrils in dermoepidermal junctions	COL7A1	Epidermolysis bullosa dystrophica
VIII	Some endothelial cells	COL8A1, COL8A2	Posterior polymorphous corneal dystrophy 2
IX	FACIT collagen, cartilage, assoc. with type II and XI fibrils	COL9A1, COL9A2, COL9A3	EDM2 and EDM3
X	Hypertrophic and mineralizing cartilage	COL10A1	Schmid metaphyseal dysplasia
XI	Cartilage	COL11A1, COL11A2	Collagenopathy, types II and XI
XII	FACIT collagen, interacts with type I containing fibrils, decorin and glycosaminoglycans	COL12A1	–
XIII	Transmembrane collagen, interacts with integrin a1b1, fibronectin and components of basement membranes like nidogen and perlecan.	COL13A1	–
XIV	FACIT collagen	COL14A1	–
XV	–	COL15A1	–
XVI	–	COL16A1	–
XVII	Transmembrane collagen, also known as BP180, a 180 kDa protein	COL17A1	Bullous pemphigoid and certain forms of junctional epidermolysis bullosa
XVIII	Source of endostatin	COL18A1	–
XIX	FACIT collagen	COL19A1	–
XX	–	COL20A1	–
XXI	FACIT collagen	COL21A1	–
XXII	–	COL22A1	–
XXIII	MACIT collagen	COL23A1	–
XXIV	–	COL24A1	–
XXV	–	COL25A1	–
XXVI	–	EMID2	–
XXVII	–	COL27A1	–
XXVIII	–	COL28A1	–

In addition to the above mentioned disorders, excessive deposition of collagen occurs in scleroderma.

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