KEGG DISEASE: Lymphatic malformation

KEGG

DISEASE: Lymphatic malformation

Entry

H00535                      Disease

Name

Lymphatic malformation

Subgroup

Hereditary lymphedema

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Disorders of lymphatic vessels or lymph nodes
   BD93  Lymphoedema
    H00535  Lymphatic malformation

Pathway

Calcium signaling pathway

Rap1 signaling pathway

PI3K-Akt signaling pathway

Focal adhesion

MAPK signaling pathway

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] [KO:K27688]
(LMPHM13) THSD1 [HSA:55901] [KO:K24433]
(LMPHM14) ERG [HSA:2078] [KO:K09435]

Other DBs

ICD-11:

MeSH:

OMIM:

153100 613480 615907 616843 617300 618773 619319 619369 619401 620014 620244 620602

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

PMID:36928819 (LMPHM14)

Authors

Greene D, Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E

Title

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Journal

Nat Med 29:679-688 (2023)
DOI:10.1038/s41591-023-02211-z

LinkDB

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