Mutations in the COL11A1, COL11A2, and COL2A1 genes cause<unk> . These genes carry instructions for the protein strands that make up<unk><unk>  and<unk><unk>  collagen. All collagen molecules are made of three protein strands (called alpha chains). The alpha chains may be identical or different, depending on the<unk> of collagen.<unk><unk>  collagen is made by combining three copies of the alpha chain made by the COL2A1 gene.<unk><unk>  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<unk><unk>  and<unk>  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<unk><unk>  and<unk> <unk> es.
Collagenopathy, types II and XI
Collagen disease
Acrokeratoelastoidosis of Costa
Fibromuscular dysplasia
Actinic elastosis
Mixed connective tissue disease
Adult polyglucosan body disease
Fibrin ring granuloma