From: The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment
Ehlers-Danlos syndrome | OMIM | Inheritance | Gene | Location | Gene product |
---|---|---|---|---|---|
  Type I | 130000 | AD | COL5A2 | 2q32.2 | Collagen, Type -V, Alpha-2 |
130000 | AD | COL5A1 | 9q34.3 | Collagen, Type -V, Alpha-1 | |
130000 | AD | COL1A1 | 17q21.33 | Collagen, Type -I, Alpha-1 | |
  Type II | 130010 | AD | COL5A1 | 9q34.3 | Collagen, Type -V, Alpha-1 |
  Type III | 130020 | AD | TNXB | 6p21.33 | Tenascin XB |
  Type IV | 130050 | AD | COL3A1 | 2q32.2 | Collagen, Type III, Alpha-1 |
  Type V | 305200 | - | - | - | - |
  Type VI | 225400 | Ad/ar | PLOD1 | 1p36.22 | Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase |
  Type VIIA | 130060 | AD | COL1A1 | 17q21.33 | Collagen, Type I, Alpha-1 |
  Type VIIB | 130060 | AD | COL1A2 | 7q21.3 | Collagen, Type I, Alpha-2 |
  Type VIIC | 225410 | AR | ADANTS2 | 5q35.2 | Procollagen I N-Proteinase |
  Type VIII | 130080 | AR | - | 12p13 | - |