KEGG   DISEASE: Hereditary lymphedemaHelp
Entry
H00535                      Disease                                

Name
Hereditary lymphedema
Description
Hereditary lymphedema (LMPH) is a developmental disorder 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 [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00535  Hereditary lymphedema
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Disorders of lymphatic vessels or lymph nodes
   BD93  Lymphoedema
    H00535  Hereditary lymphedema
BRITE hierarchy
Pathway
hsa04010 MAPK signaling pathway   
hsa04510 Focal adhesion   
hsa04151 PI3K-Akt signaling pathway   
hsa04015 Rap1 signaling pathway   
Gene
(LMPH1A) FLT4 [HSA:2324] [KO:K05097]
(LMPH1C) GJC2 [HSA:57165] [KO:K07619]
(LMPH1D) VEGFC [HSA:7424] [KO:K05449]
(LMPH3) PIEZO1 [HSA:9780] [KO:K22128]
Other DBs
ICD-11: BD93.0
ICD-10: Q82.0
MeSH: D008209
OMIM: 153100 613480 615907 616843
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
  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
  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
  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

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