Lymphatic malformation

Definition:

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.

References:

[1]. Dong Li, et al. Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. [Content Brief]

[2]. Duncan I Mackie, et al. h CALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. J Exp Med. 2018 Sep 3;215(9):2339-2353. [Content Brief]

[3]. Elisavet Fotiou, et al. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Nat Commun. 2015 Sep 3;6:8085. [Content Brief]

[4]. Emilia Balboa-Beltran, et al. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. J Med Genet. 2014 Jul;51(7):475-8. [Content Brief]

[5]. M J Karkkainen, et al. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet. 2000 Jun;25(2):153-9. [Content Brief]

[6]. Paolo E Maltese, et al. Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants. Am J Med Genet A. 2019 Sep;179(9):1718-1724. [Content Brief]

[7]. Pascal Brouillard, et al. Genetic causes of vascular malformations. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. [Content Brief]

[8]. Qing K Wang, et al. Update on the molecular genetics of vascular anomalies. Lymphat Res Biol. 2005;3(4):226-33. [Content Brief]

[9]. Robert E Ferrell, et al. GJC2 missense mutations cause human lymphedema. Am J Hum Genet. 2010 Jun 11;86(6):943-8. [Content Brief]

[10]. Sandro Michelini, et al. TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. Int J Mol Sci. 2020 Sep 16;21(18):6780. [Content Brief]

[11]. Veli-Matti Leppänen, et al. Characterization of ANGPT2 mutations associated with primary lymphedema. Sci Transl Med. 2020 Sep 9;12(560):eaax8013. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.