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Normal Function
The FLT4 gene provides instructions for making a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. VEGFR-3 is turned on (activated) by two proteins called vascular endothelial growth factor C (VEGF-C) and vascular endothelial growth factor D (VEGF-D). When VEGF-C and VEGF-D attach (bind) to VEGFR-3, chemical signals are produced that regulate the growth, movement, and survival of lymphatic cells.
Health Conditions Related to Genetic Changes
Milroy disease
At least 19 mutations in the FLT4 gene have been found to cause Milroy disease. Most mutations in this gene change a single protein building block (amino acid) in regions known as tyrosine kinase domains. Mutations in these regions disrupt VEGFR-3 signaling and cause the tubes that carry lymph fluid (lymphatic vessels) to be small or absent. If lymph fluid is not properly transported, it builds up in the body's tissues and causes swelling (lymphedema). It is not known how mutations in the FLT4 gene lead to the other signs and symptoms of Milroy disease.
More About This Health ConditionOther Names for This Gene
- FLT41
- fms-related tyrosine kinase 4
- vascular endothelial growth factor receptor 3
- VEGFR3
- VGFR3_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005 Feb;42(2):98-102. doi: 10.1136/jmg.2004.024802. Citation on PubMed or Free article on PubMed Central
- Butler MG, Dagenais SL, Rockson SG, Glover TW. A novel VEGFR3 mutation causes Milroy disease. Am J Med Genet A. 2007 Jun 1;143A(11):1212-7. doi: 10.1002/ajmg.a.31703. Citation on PubMed
- Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH. Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. J Med Genet. 2003 Sep;40(9):697-703. doi: 10.1136/jmg.40.9.697. No abstract available. Citation on PubMed or Free article on PubMed Central
- Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet. 2000 Aug;67(2):295-301. doi: 10.1086/303019. Epub 2000 Jun 9. Citation on PubMed or Free article on PubMed Central
- Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet. 2000 Jun;25(2):153-9. doi: 10.1038/75997. Citation on PubMed
- Van Zanten M, Mansour S, Ostergaard P, Mortimer P, Gordon K. Milroy Disease. 2006 Apr 27 [updated 2021 Feb 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1239/ Citation on PubMed
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