Main human hereditary lymphedema syndromes
| Name | Inheritance | MIM number | Main manifestations | Mutated gene | Candidate locus |
| Syndromes with lymphedema as a primary manifestation | |||||
| Hereditary lymphedema IA (Milroy disease) | Autosomal dominant with reduced penetrance | 153100 | Congenital lymphedema, chylous ascites caused by hypoplasia of lymphatic vessels | FLT4 (VEGFR-3) | 5q35.3 |
| Hereditary lymphedema IB | Autosomal dominant with reduced penetrance | 611944 | Lymphedema of lower limbs, nature of lymphatic vascular defects is unknown | Unknown | 6q16.2–q22.1 |
| Hereditary lymphedema IC | Autosomal dominant | 613480 | Lymphedema of limbs, age of onset 1–15 yr, nature of lymphatic vascular defects is unknown | GJC2 (connexin47) | 1q41–q42 |
| Hereditary lymphedema II (Meige disease) | Unknown | 153200 | Puberty onset lymphedema, nature of lymphatic vascular defects is unknown | Unknown | Unknown |
| Syndromes with lymphedema as a consistent feature | |||||
| Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis and lymphedema | X-linked recessive | 300301 | Severe infections, osteopetrosis, nature of lymphatic vascular defects is unknown | IKBKG (Nemo) TER420TRP | Xq28 |
| Cholestasis-lymphedema syndrome (Aagenaes syndrome) | Autosomal recessive | 214900 | Severe neonatal cholestasis, neonatal or childhood onset lymphedema caused by hypoplasia of lymphatic vessels | Unknown | 15q1 |
| Hennekam lymphangiectasia-lymphedema syndrome | Autosomal recessive | 235510 | Lymphedema of limbs, intestinal lymphangiectasia, mental retardation, facial anomalies | CCBE1 | 18q21.32 |
| HLT syndrome | Autosomal dominant | 607823 | Alopecia, ectatic blood vessels, lymphedema, nature of lymphatic vascular defects is unknown | SOX18 | 20q13.33 |
| Lymphedema, microcephaly, chorioretinopathy syndrome | Autosomal dominant | 152950 | Congenital microcephaly and lymphedema, nature of lymphatic vascular defects is unknown | Unknown | Unknown |
| Lymphedema-choanal atresia syndrome | Autosomal recessive | 608911 | Blockage of nasal passage (choana), lymphedema of lower legs at 4–5 yr, nature of lymphatic vascular defects is unknown | PTPN14 | 1q32–q41 |
| Lymphedema–distichiasis syndrome, yellow nail syndrome | Autosomal dominant | 153400/153300 | Late onset leg lymphedema and metaplasia of Meibomian glands (distichiasis), impaired lymphatic drainage caused by incompetent lymphatic valves | FOXC2 | 6q24.3 |
| Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly (Urioste syndrome) | Autosomal recessive? | 235255 | Intestinal and pulmonary lymphangiectasia, protein-losing entheropathy, polydactyly, and mullerian duct remnants | Unknown | Unknown |
| Pulmonary congenital lymphangiectasia | Unknown | 265300 | Congenital pulmonary lymphangiectasia, subcutaneous edema, nonimmune hydrops, chylothorax | Unknown | Unknown |
| Name | Inheritance | MIM number | Main manifestations | Mutated gene | Candidate locus |
| Hereditary lymphedema IA (Milroy disease) | Autosomal dominant with reduced penetrance | 153100 | Congenital lymphedema, chylous ascites caused by hypoplasia of lymphatic vessels | FLT4 (VEGFR-3) | 5q35.3 |
| Hereditary lymphedema IB | Autosomal dominant with reduced penetrance | 611944 | Lymphedema of lower limbs, nature of lymphatic vascular defects is unknown | Unknown | 6q16.2–q22.1 |
| Hereditary lymphedema IC | Autosomal dominant | 613480 | Lymphedema of limbs, age of onset 1–15 yr, nature of lymphatic vascular defects is unknown | GJC2 (connexin47) | 1q41–q42 |
| Hereditary lymphedema II (Meige disease) | Unknown | 153200 | Puberty onset lymphedema, nature of lymphatic vascular defects is unknown | Unknown | Unknown |
| Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis and lymphedema | X-linked recessive | 300301 | Severe infections, osteopetrosis, nature of lymphatic vascular defects is unknown | IKBKG (Nemo) TER420TRP | Xq28 |
| Cholestasis-lymphedema syndrome (Aagenaes syndrome) | Autosomal recessive | 214900 | Severe neonatal cholestasis, neonatal or childhood onset lymphedema caused by hypoplasia of lymphatic vessels | Unknown | 15q1 |
| Hennekam lymphangiectasia-lymphedema syndrome | Autosomal recessive | 235510 | Lymphedema of limbs, intestinal lymphangiectasia, mental retardation, facial anomalies | CCBE1 | 18q21.32 |
| HLT syndrome | Autosomal dominant | 607823 | Alopecia, ectatic blood vessels, lymphedema, nature of lymphatic vascular defects is unknown | SOX18 | 20q13.33 |
| Lymphedema, microcephaly, chorioretinopathy syndrome | Autosomal dominant | 152950 | Congenital microcephaly and lymphedema, nature of lymphatic vascular defects is unknown | Unknown | Unknown |
| Lymphedema-choanal atresia syndrome | Autosomal recessive | 608911 | Blockage of nasal passage (choana), lymphedema of lower legs at 4–5 yr, nature of lymphatic vascular defects is unknown | PTPN14 | 1q32–q41 |
| Lymphedema–distichiasis syndrome, yellow nail syndrome | Autosomal dominant | 153400/153300 | Late onset leg lymphedema and metaplasia of Meibomian glands (distichiasis), impaired lymphatic drainage caused by incompetent lymphatic valves | FOXC2 | 6q24.3 |
| Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly (Urioste syndrome) | Autosomal recessive? | 235255 | Intestinal and pulmonary lymphangiectasia, protein-losing entheropathy, polydactyly, and mullerian duct remnants | Unknown | Unknown |
| Pulmonary congenital lymphangiectasia | Unknown | 265300 | Congenital pulmonary lymphangiectasia, subcutaneous edema, nonimmune hydrops, chylothorax | Unknown | Unknown |
References can be found under the corresponding Online Mendelian Inheritance of Man (MIM) entry.
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