Table 3 Classification of Ehlers–Danlos Syndrome [16]
Clinical EDS subtype | Inheritance | Group | Protein | Gene | 2023 Skeletal dysplasia nosology code [8] | OMIM Condition [12] |
|---|---|---|---|---|---|---|
1 Classical EDS (cEDS) | AD | Defects in collagen primary structure and collagen processing | Type V collagen | COL5A1 | ||
Type V collagen | COL5A2 | 130010 | ||||
Type I collagen | Rare: COL1A1 c.934C>T, p.(Arg312Cys) | |||||
2 Classical-like EDS (clEDS) | AR | Defects in structure and function of myomatrix, the interface between muscle and ECM | Tenascin XB | TNXB | 606408 | |
3 Cardiac-valvular EDS (cvEDS) | AR | Defects in collagen primary structure and collagen processing | Type I collagen | COL1A2 (biallelic variants that lead to COL1A2 NMD and absence of pro α2(I) collagen chains) | 225320 | |
4 Vascular EDS (vEDS) | AD | Defects in collagen primary structure and collagen processing | Type III collagen | COL3A1 | 130050 | |
Type I collagen | COL1A1 c.934C>T, p.(Arg312Cys) c.1720C>T, p.(Arg574Cys) c.3227C>T, p.(Arg1093Cys) | |||||
5 Hypermobile EDS (hEDS) | AD | Unknown | Unknown | Unknown | 130020 | |
6 Arthrochalasia EDS (aEDS) | AD | Defects in collagen primary structure and collagen processing | Type I collagen | COL1A1 | 130060 | |
COL1A2 | 130060 | |||||
7 Dermatosparaxis EDS (dEDS) | AR | Defects in collagen primary structure and collagen processing | ADAMTS-2 | ADAMTS2 | 225410 | |
8 Kyphoscoliotic EDS (kEDS) | AR | Defects in collagen folding and collagen cross-linking | Lysylhydroxylase 1 | PLOD1 | 225400 | |
FKBP22 | FKBP14 | 614557 | ||||
9 Brittle Cornea syndrome (BCS) | AR | Disorders of intracellular processes | ZNF469 | ZNF469 | 229200 | |
PRDM5 | PRDM5 | 614170 | ||||
10 Spondylodysplastic EDS (spEDS) | AR | Defects in glycosaminoglycan biosynthesis | β4GalT7 | B4GALT7 | NOS05-0070 | 130070, 615349 |
β3GalT6 | B3GALT6 | NOS05-0060* | 271640 | |||
Disorders of intracellular processes | ZIP13 | SLC39A13 | NOS13-0230 | 612350 | ||
11 Musculocontractural EDS (mcEDS) | AR | Defects in glycosaminoglycan biosynthesis | D4ST1 | CHST14 | NOS04-0090 | 601776 |
DSE | DSE | NOS04-0100 | 615539 | |||
12 Myopathic EDS (mEDS) | AD or AR | Defects in structure and function of myomatrix, the interface between muscle and ECM | Type XII collagen | COL12A1 | 616471 | |
13 Periodontal EDS# (pEDS) | AD GOF | Defects in complement pathway | C1r | C1R | 130080 | |
C1s | C1S | 130080 |