Table 2.
Ehlers–Danlos syndromes (EDS) types according to the 2017 revised nosology.
| EDS Type | IP | Gene | Protein |
|---|---|---|---|
| Classical EDS (cEDS) | AD | Major: COL5A1, COL5A2 Rare: COL1A1 |
Type V collagen Type I collagen |
| Classical-like EDS (clEDS) | AR | TNXB | Tenascin-X |
| Cardiac-valvular EDS (cvEDS) | AR | COL1A2 | Type I collagen |
| Vascular EDS (vEDS) | AD | COL3A1 | Type III collagen |
| Hypermobile EDS (hEDS) | AD | Unknown | Unknown |
| Arthrochalasia EDS (aEDS) | AD | COL1A1, COL1A2 | Type I collagen |
| Dermatosparaxis EDS (dEDS) | AR | ADAMTS2 | ADAMTS-2 |
| Kyphoscoliotic EDS (kEDS) | AR |
PLOD1 FKBP14 |
LH1 FKBP22 |
| Brittle cornea syndrome (BCS) | AR |
ZNF469 PRDM5 |
ZNF469 PRDM5 |
| Spondylodysplastic EDS (spEDS) | AR |
B4GALT7 B3GALT6 SLC39A13 |
β4GalT7 β3GalT6 ZIP13 |
| Musculocontractural EDS (mcEDS) | AR |
CHST14 DSE |
D4ST1 DSE |
| Myopathic EDS (mEDS) | AD/AR | COL12A1 | Type XII collagen |
| Periodontal EDS (pEDS) | AD |
C1R C1S |
C1r C1s |
IP: inheritance pattern; AD: autosomal dominant; AR: autosomal recessive.