36 - Diseases caused by mutations in collagen genes

Diseases Caused by Mutations in Collagen Genes or by Deficiencies in the Activities of Posttranslational Enzymes Involved in the Biosynthesis of Collagen.

Gene or Enzyme Disease COL1A1, COL1A2  Osteogenesis imperfecta, type 1 (MIM 166200) Osteoporosis (MIM 166710) Ehlers-Danlos syndrome type VII autosomal dominant (130060) COL2A1  Severe chondrodysplasias Osteoarthritis (MIM 165720) COL3A1  Ehlers-Danlos syndrome type IV (MIM 130050) COL4A3–COL4A6  Alport syndrome (including both autosomal and X-linked forms) (MIM 104200) COL7A1  Epidermolysis bullosa, dystrophic (MIM 131750) COL10A1  Schmid metaphysial chondrodysplasia (MIM 156500) Lysyl hydroxylase Ehlers-Danlos syndrome type VI (MIM 225400) Procollagen N-proteinase  Ehlers-Danlos syndrome type VII autosomal recessive (MIM 225410) Lysyl hydroxylase Menkes disease (MIM 309400)