| H00535 | |
| H番号 | H00535 |
| 名称 | リンパ管奇形 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: BD93.0 ICD-10: Q82.0 MeSH: D008209 OMIM: 153100 613480 615907 616843 617300 618773 619319 619369 619401 620014 620244 |
| 文献 | PMID:17670762 著者 Brouillard P, Vikkula M タイトル Genetic causes of vascular malformations. 雑誌 Hum Mol Genet 16 Spec No. 2:R140-9 (2007) DOI:10.1093/hmg/ddm211 PMID:16379592 著者 Wang QK タイトル Update on the molecular genetics of vascular anomalies. 雑誌 Lymphat Res Biol 3:226-33 (2005) DOI:10.1089/lrb.2005.3.226 PMID:10835628 (LMPHM1) 著者 Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN タイトル Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. 雑誌 Nat Genet 25:153-9 (2000) DOI:10.1038/75997 PMID:20537300 (LMPHM3) 著者 Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, Meriney SD, Feingold E, Finegold DN タイトル GJC2 missense mutations cause human lymphedema. 雑誌 Am J Hum Genet 86:943-8 (2010) DOI:10.1016/j.ajhg.2010.04.010 PMID:24744435 (LMPHM4) 著者 Balboa-Beltran E, Fernandez-Seara MJ, Perez-Munuzuri A, Lago R, Garcia-Magan C, Couce ML, Sobrino B, Amigo J, Carracedo A, Barros F タイトル A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 雑誌 J Med Genet 51:475-8 (2014) DOI:10.1136/jmedgenet-2013-102020 PMID:26333996 (LMPHM6) 著者 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 タイトル Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. 雑誌 Nat Commun 6:8085 (2015) DOI:10.1038/ncomms9085 PMID:29905864 (LMPHM7) 著者 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 タイトル Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. 雑誌 Hum Mol Genet 27:3233-3245 (2018) DOI:10.1093/hmg/ddy218 PMID:30115739 (LMPHM8) 著者 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 タイトル hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. 雑誌 J Exp Med 215:2339-2353 (2018) DOI:10.1084/jem.20180528 PMID:31215153 (LMPHM9) 著者 Maltese PE, Michelini S, Ricci M, Maitz S, Fiorentino A, Serrani R, Lazzerotti A, Bruson A, Paolacci S, Benedetti S, Bertelli M タイトル Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants. 雑誌 Am J Med Genet A 179:1718-1724 (2019) DOI:10.1002/ajmg.a.61269 PMID:32908006 (LMPHM10) 著者 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 タイトル Characterization of ANGPT2 mutations associated with primary lymphedema. 雑誌 Sci Transl Med 12:eaax8013 (2020) DOI:10.1126/scitranslmed.aax8013 PMID:32947856 (LMPHM11) 著者 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 タイトル TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. 雑誌 Int J Mol Sci 21:E6780 (2020) DOI:10.3390/ijms21186780 PMID:35235341 (LMPHM12) 著者 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 タイトル Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. 雑誌 Sci Transl Med 14:eabm4869 (2022) DOI:10.1126/scitranslmed.abm4869 PMID:26036949 (LMPHM13) 著者 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 タイトル Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 雑誌 Genome Biol 16:116 (2015) DOI:10.1186/s13059-015-0681-6 |