Collagenopathy, Types II and XI - Causes

Causes

Mutations in the COL11A1, COL11A2, and COL2A1 genes cause collagenopathy, types II and XI. These genes carry instructions for the protein strands that make up type II and type XI collagen. All collagen molecules are made of three protein strands (called alpha chains). The alpha chains may be identical or different, depending on the type of collagen. Type II collagen is made by combining three copies of the alpha chain made by the COL2A1 gene. Type XI collagen, on the other hand, is composed of three different alpha chains: the products of the COL2A1, COL11A1, and COL11A2 genes.

Mutations in these genes interfere with the proper assembly of type II and XI collagens or reduce the amount of these collagens. Defective or reduced numbers of collagen molecules affect the development of bones and other connective tissues, causing the signs and symptoms of the type II and XI collagenopathies.

This article incorporates public domain text from The U.S. National Library of Medicine

col" style=";background:Silver"> Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)
Collagen disease

COL1: Osteogenesis imperfecta · Ehlers–Danlos syndrome, types 1, 2, 7

COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11)

COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome)

COL4: Alport syndrome

COL5: Ehlers–Danlos syndrome, types 1 & 2

COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy

COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn

COL8: Fuchs' dystrophy 1

COL9: Multiple epiphyseal dysplasia 2, 3, 6

COL10: Schmid metaphyseal chondrodysplasia

COL11: Weissenbacher–Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11)

COL17: Bullous pemphigoid
Laminin Junctional epidermolysis bullosa · Laryngoonychocutaneous syndrome
Other Congenital stromal corneal dystrophy · Raine syndrome · Urbach–Wiethe disease · TECTA (DFNA8/12, DFNB21)
see also fibrous proteins
  • B structural
    • perx
    • skel
    • cili
    • mito
    • nucl
    • sclr
  • DNA/RNA/protein synthesis
    • drep
    • trfc
    • tscr
    • tltn
  • membrane
    • icha
    • slcr
    • atpa
    • abct
    • othr
  • transduction
    • iter
    • csrc
    • itra
  • trfk

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