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Table 3 Causes of Ehlers-Danlos syndrome, genes involved, location, inheritance, and gene product

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

-

  1. Note: This table lists only the most frequent types according to the recent literature.