From: The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment
Osteogenesis imperfecta | OMIM | Inheritance | Gene | Location | Gene product |
---|---|---|---|---|---|
  Type I | 166200 | AD | COL1A1 | 17q21.33 | Collagen, Type I, Alpha-1 |
  Type II | 166210 | AD | COL1A1 | 17q21.33 | Collagen, Type I, Alpha-1 |
 | 166210 | AD | COL1A2 | 7q21.3 | Collagen, Type I, Alpha-2 |
  Type III | 259420 | AD | COL1A1 | 17q21.33 | Collagen, Type I, Alpha-1 |
 | 259420 | AD | COL1A2 | 7q21.3 | Collagen, Type I, Alpha-2 |
  Type IV | 166220 | AD | COL1A2 | 7q21.3 | Collagen, Type I, Alpha-2 |
 | 166220 | AD | COL1A1 | 17q21.33 | Collagen, Type I, Alpha-1 |
  Type V | 610967 | AD | IFITM5 | 11p15.5 | Interferon-induced transmembrane protein-5 |
  Type VI | 613982 | AR | SERPINF1 | 17p13.3 | Serpin peptidase inhibitor |
 | 610682 | AR | CRTAP | 3p22.3 | Cartilage-associated protein |
 | 610915 | AR | LEPRE1 | 1P34.2 | Leucine- and Proline-Enriched Proteoglycan 1 |
  Type IX | 259440 | AR | PPIP | 15q22.31 | Peptidyl-prolyl isomerase b |
  Type X | 613848 | AR | SERPINH1 | 11q13.5 | Serpin peptidase inhibitor, Clade H, Member 1 |
  Type XI | 610968 | AR | FKBP10 | 17q21.2 | FK506-binding protein 10 |
  Type XII | 613849 | AR | SP7 | 12q13.13 | Transcription factor Sp7 |
  Type XIII | 614856 | AR | BMP1 | 8q21.3 | Bone morphogenetic protein 1 |
  Type XIV | 615066 | AR | TMEN38B | 9q31.2 | Transmembrane Protein 38B |
  Type XV | 615220 | AR | WNT1 | 12q13.12 | Wingless-type MMTV Integration Site Family, Member 1 |