| H00535 | |
| H number | H00535 |
| Name | Lymphatic malformation |
| Description | Lymphatic malformation (LMPHM), formerly known as hereditary lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic drainage. The dilated lymphatic channels that are not connected to the lymphatic vessels cause these edemas. |
| Category | Congenital malformation |
| Network | - |
| Gene | (LMPHM1/LMPH1A) FLT4 [HSA:2324] [KO:K05097] (LMPHM3/LMPH1C) GJC2 [HSA:57165] [KO:K07619] (LMPHM4/LMPH1D) VEGFC [HSA:7424] [KO:K05449] (LMPHM6/LMPH3) PIEZO1 [HSA:9780] [KO:K22128] (LMPHM7) EPHB4 [HSA:2050] [KO:K05113] (LMPHM8) CALCRL [HSA:10203] [KO:K04577] (LMPHM9) CELSR1 [HSA:9620] [KO:K04600] (LMPHM10) ANGPT2 [HSA:285] [KO:K05466] (LMPHM11) TIE1 [HSA:7075] [KO:K05120] (LMPHM12) MDFIC [HSA:29969] (LMPHM13) THSD1 [HSA:55901] [KO:K24433] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: BD93.0 ICD-10: Q82.0 MeSH: D008209 OMIM: 153100 613480 615907 616843 617300 618773 619319 619369 619401 620014 620244 |
| Reference | PMID:17670762 AUTHORS Brouillard P, Vikkula M TITLE Genetic causes of vascular malformations. JOURNAL Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:16379592 AUTHORS Wang QK TITLE Update on the molecular genetics of vascular anomalies. JOURNAL Lymphat Res Biol 3:226-33 (2005) DOI:10.1089/lrb.2005.3.226 PMID:10835628 (LMPHM1) AUTHORS Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN TITLE Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. JOURNAL Nat Genet 25:153-9 (2000) DOI:10.1038/75997 PMID:20537300 (LMPHM3) AUTHORS Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, Meriney SD, Feingold E, Finegold DN TITLE GJC2 missense mutations cause human lymphedema. JOURNAL Am J Hum Genet 86:943-8 (2010) DOI:10.1016/j.ajhg.2010.04.010 PMID:24744435 (LMPHM4) AUTHORS Balboa-Beltran E, Fernandez-Seara MJ, Perez-Munuzuri A, Lago R, Garcia-Magan C, Couce ML, Sobrino B, Amigo J, Carracedo A, Barros F TITLE A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. JOURNAL J Med Genet 51:475-8 (2014) DOI:10.1136/jmedgenet-2013-102020 PMID:26333996 (LMPHM6) AUTHORS Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P TITLE Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. JOURNAL Nat Commun 6:8085 (2015) DOI:10.1038/ncomms9085 PMID:29905864 (LMPHM7) AUTHORS Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H TITLE Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. JOURNAL Hum Mol Genet 27:3233-3245 (2018) DOI:10.1093/hmg/ddy218 PMID:30115739 (LMPHM8) AUTHORS Mackie DI, Al Mutairi F, Davis RB, Kechele DO, Nielsen NR, Snyder JC, Caron MG, Kliman HJ, Berg JS, Simms J, Poyner DR, Caron KM TITLE hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. JOURNAL J Exp Med 215:2339-2353 (2018) DOI:10.1084/jem.20180528 PMID:31215153 (LMPHM9) AUTHORS Maltese PE, Michelini S, Ricci M, Maitz S, Fiorentino A, Serrani R, Lazzerotti A, Bruson A, Paolacci S, Benedetti S, Bertelli M TITLE Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants. JOURNAL Am J Med Genet A 179:1718-1724 (2019) DOI:10.1002/ajmg.a.61269 PMID:32908006 (LMPHM10) AUTHORS Leppanen VM, Brouillard P, Korhonen EA, Sipila T, Jha SK, Revencu N, Labarque V, Fastre E, Schlogel M, Ravoet M, Singer A, Luzzatto C, Angelone D, Crichiutti G, D'Elia A, Kuurne J, Elamaa H, Koh GY, Saharinen P, Vikkula M, Alitalo K TITLE Characterization of ANGPT2 mutations associated with primary lymphedema. JOURNAL Sci Transl Med 12:eaax8013 (2020) DOI:10.1126/scitranslmed.aax8013 PMID:32947856 (LMPHM11) AUTHORS Michelini S, Ricci M, Veselenyiova D, Kenanoglu S, Kurti D, Baglivo M, Fiorentino A, Basha SH, Priya S, Serrani R, Krajcovic J, Dundar M, Dautaj A, Bertelli M TITLE TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. JOURNAL Int J Mol Sci 21:E6780 (2020) DOI:10.3390/ijms21186780 PMID:35235341 (LMPHM12) AUTHORS Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL TITLE Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. JOURNAL Sci Transl Med 14:eabm4869 (2022) DOI:10.1126/scitranslmed.abm4869 PMID:26036949 (LMPHM13) AUTHORS Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, Khalifa O, Hashem A, Kurdi A, Babay Z, Bubshait DK, Ibrahim N, Abdulwahab F, Rahbeeni Z, Hashem M, Alkuraya FS TITLE Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. JOURNAL Genome Biol 16:116 (2015) DOI:10.1186/s13059-015-0681-6 |