Table 1 Phenotypic presentation of EDS subtypes pertinent to lactation
From: Considerations for lactation with Ehlers-Danlos syndrome: a narrative review
EDS Subtype | Protein involved | Genetic basis |
|---|---|---|
Classical | Type V collagen | COL5A1 |
| Â | COL5A2 | |
Type I collagen | COL1A1 (Rarely) | |
Classical-like | Tenascin XB | TNXB |
Cardiac-valvular | Type I collagen | COL1A2 |
Vascular | Type III collagen | COL3A1 |
Hypermobile | Unknown | Unknown |
Arthrochalasia | Type I collagen | COL1A1 |
| Â | COL1A2 | |
Dermatosparaxis | ADAMTS2 | ADAMTS-2 |
Kyphoscoliotic | PLOD1 | LH1 |
FKBP14 | FKBP22 | |
Brittle cornea syndrome | ZNF469 | ZNF469 |
PRDM5 | PRDM5 | |
Spondylodysplastic | β4GALT7 | β4GALT7 |
β3GALT6 | β3GALT6 | |
SLC39A13 | ZIP13 | |
Musculocontractural | CHST14 | D4ST1 |
DSE | DSE | |
Myopathic | COL12A1 | Type XII collagen |
Periodontal | C1R | C1r |