Genetics and biomarkers
The molecular map concentrates in collagen and collagen-processing pathways
establishedfinding
Confirmed subtype genes cluster into collagen structure (COL5A1/A2, COL3A1, COL1A1/A2, COL12A1), collagen processing (ADAMTS2, PLOD1), proteoglycan and glycosaminoglycan pathways (B4GALT7, B3GALT6, CHST14, DSE), complement (C1R, C1S), and signaling (TNXB, SLC39A13, ZNF469, PRDM5, FKBP14). The 2017 classification groups subtypes by shared pathway for research purposes.
| Subtype scope | all EDS types |
|---|---|
| Criteria era | international-2017 |
| Reviewed | 2026-09-16 |
Evidence
clinicalconsensus statement
clinicalexpert review