Disorder | ORPHANET | OMIM | GENE | ||
Autosomal dominant | Late onset (>1 year) | Lymphoedema distichiasis syndrome (LDS) | 33 001 | 153 400 | FOXC2 |
Late onset 4-limb lymphoedema | 613 480 | GJC2 | |||
Emberger syndrome / Primary lymphoedema with myelodysplasia | 3226 | 614 038 | GATA2 | ||
Late-onset hereditary lymphoedema | CELSR1 | ||||
Meige disease | 90 186 | 153 200 | ? | ||
Congenital (<1 year) | Milroy disease | 79 452 | 153 100 | VEGFR3/FLT4 | |
Congenital primary lymphoedema of Gordon | 615 907 | VEGFC | |||
Microcephaly-chorioretinopathy-lymphoedema syndrome | 2526 | 152 950 | KIF11 | ||
Capillary malformation-arteriovenous malformation (CMAVM) | 608354 618 196 | RASA1EPHB4 | |||
Autosomal dominant lymphatic-related foetal hydrops (LRFH) | 617 300 | EPHB4 | |||
Hypotrichosis-lymphoedema-telangiectasia-renal defect syndrome (HLTRS) | 69 735 | 137 940 | SOX18 | ||
Autosomal recessive | Hypotrichosis-lymphoedema-telangiectasia syndrome (HLTS) | 69 735 | 607 823 | SOX18 | |
Hennekam-lymphangiectasia-lymphoedema syndrome Type 1, 2 and 3 | 2136 | 235510 616006 618 154 | CCBE1FAT4ADAMTS3 | ||
Generalised lymphatic dysplasia of Fotiou | 616 843 | PIEZO1 | |||
Mosaicism | PIK3CA-related overgrowth spectrum (PROS) | 171 834 | PIK3CA | ||
Mosaic RASopathies | e.g. KRAS/NRAS/HRAS/MAP2K1 |
Their position in the classification pathway is indicated by the same colour coding as used in figure 1. For each disorder, the causal gene, Orphanet and OMIM IDs are given where known.