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-based classification of diseases [BR:br08402]
Signal transduction
nt06505 WNT signaling
H00535 Lymphatic malformation
Cellular processes
nt06548 Integrin signaling
H00535 Lymphatic malformation
nt06549 Cadherin signaling
H00535 Lymphatic malformation
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.
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.
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.
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.
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.
Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of nail abnormalities, chronic respiratory disease, and primary lymphoedema. Because most patients lack a positive family history, and given the typically late onset of the disease as well as the potential recovery of nail changes, YNS is generally not considered to be a primarily genetic disease. However, recent studies have suggested that defects in planar cell polarity (PCP) organization may play an important role in the pathogenesis of YNS.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Skin disorders involving specific cutaneous structures
Disorders of the epidermis or epidermal appendages
Disorders of the nail or perionychium
EE11 Acquired abnormalities of nail colour
H03009 Yellow nail syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06505 WNT signaling
H03009 Yellow nail syndrome
Cellular processes
nt06549 Cadherin signaling
H03009 Yellow nail syndrome
Kurolap A, Chai Gadot C, Eshach Adiv O, Hershkovitz T, Avitan-Hersh E, Martin L, Humeau H, Schatz UA, Westphal DS, Lobmaier S, Sofrin-Drucker E, Stafler P, Bugis J, Chermesh I, Hardak E, Geva P, Zohar Y, Hershkovitz D, Mory A, Chatterji S, Greenberger S, Shteinberg M, Baris Feldman H
Title
Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
