Primary lymphedema: Genetic basis and key features
| Gene affected | Key features | |
|---|---|---|
| Congenital | ||
| Milroy lymphedema (hereditary lymphedema type 1A) | FTL4 (VEGFR3) | Nonsyndromic |
| Hereditary lymphedema type 1B | Unknown | Nonsyndromic |
| Milroy-like lymphedema (hereditary lymphedema type 1D) | VEGFC | Nonsyndromic |
| Congenital lymphedema syndromes | Varies | Specific to syndrome |
| Lymphedema praecox | ||
| Meige disease (hereditary lymphedema type 2) | Unknown | Nonsyndromic |
| Lymphedema distichiasis syndrome | FOXC2 | Ptosis, secondary eyelash formation, corneal abrasions |
| Primary lymphedema with myelodysplasia (Emberger syndrome) | GATA2 | Myelodysplasia, congenital deafness may be present |
| Hereditary lymphedema type 1C | GJC2 | Myelodysplasia, congenital deafness may be present |
| Hypotrichosis-lymphedema-telangiectasia | SOX18 | Vascular malformations including aortic dilation and cutaneous telangiectasias, hypotrichosis |
| Yellow nail syndrome | Unknown | Triad of yellow-green nails, respiratory symptoms, and lymphedema |
| Lymphedema tarda | FOXC2 | Unilateral or bilateral lymphedema presenting after age 35 |
Adapted from reference 9.