Table 1.
EDS types grouped according to the underlying genetic defect and pathomechanisms.
| EDS Type | IP | Gene | Protein |
|---|---|---|---|
| Group A: disorders of collagen primary structure and collagen processing | |||
| Classical EDS (cEDS) | AD | Major: COL5A1, COL5A2
Rare: COL1A1 |
COLLV COLLI |
| Vascular EDS (vEDS) | AD | COL3A1 | COLLIII |
| Arthrochalasia EDS (aEDS) | AD | COL1A1, COL1A2 | COLLI |
| Dermatosparaxis EDS (dEDS) | AR | ADAMTS2 | ADAMTS-2 |
| Cardiac-valvular EDS (cvEDS) | AR | COL1A2 | COLLI |
| Classical-like 2 EDS A (cl2EDS) | AR | AEBP1 | ACLP |
| Group B: disorders of collagen folding and collagen cross-linking | |||
| Kyphoscoliotic EDS (kEDS) | AR |
PLOD1
FKBP14 |
LH1 FKBP22 |
| Group C: disorders of structure and function of myomatrix | |||
| Classical-like EDS (clEDS) Myopathic EDS (mEDS) |
AR AD/AR |
TNXB
COL12A1 |
Tenascin X COLLXII |
| Group D: disorders of glycosaminoglycan biosynthesis | |||
| Spondylodysplastic EDS (spEDS) | AR |
B4GALT7
B3GALT6 |
β4GalT7 β3GalT6 |
| Musculocontractural EDS (mcEDS) | AR |
CHST14
DSE |
D4ST1 DSE |
| Group E: disorders of complement pathway | |||
| Periodontal EDS (pEDS) | AD |
C1R
C1S |
C1r C1s |
| Group F: disorders of intracellular processes | |||
| Spondylodysplastic EDS (spEDS) | AR | SLC39A13 | ZIP13 |
| Brittle Cornea Syndrome (BCS) | AR |
ZNF469
PRDM5 |
ZNF469 PRDM5 |
| EDS type molecularly unsolved | |||
| Hypermobile EDS (hEDS) | AD | Unknown | Unknown |