Gene: FLT4

Alternate names for this Gene: CHTD7|FLT-4|FLT41|LMPH1A|LMPHM1|PCL|VEGFR-3|VEGFR3

Gene Summary: This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: fms related receptor tyrosine kinase 4

Type of Gene: protein-coding

rs34221241 in FLT4 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1554109707 in FLT4 gene and Dysmorphic features PMID 19002718 2009 Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

PMID 24167460 2013 Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

PMID 23074044 2013 FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

PMID 15689446 2005 Milroy disease and the VEGFR-3 mutation phenotype.

PMID 12960217 2003 Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

rs121909650 in FLT4 gene and Milroy Disease PMID 10856194 2000 Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

PMID 15102829 2004 Activation of vascular endothelial growth factor receptor-3 and its downstream signaling promote cell survival under oxidative stress.

PMID 16924388 2006 Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

PMID 12881528 2003 Ligand-induced vascular endothelial growth factor receptor-3 (VEGFR-3) heterodimerization with VEGFR-2 in primary lymphatic endothelial cells regulates tyrosine phosphorylation sites.

PMID 26091405 2015 A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.

PMID 17458866 2007 A novel VEGFR3 mutation causes Milroy disease.

PMID 19289394 2009 Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.

PMID 16965327 2006 Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

PMID 10835628 2000 Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.

rs1554109707 in FLT4 gene and Multiple congenital anomalies PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

PMID 12960217 2003 Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

PMID 24167460 2013 Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

PMID 15689446 2005 Milroy disease and the VEGFR-3 mutation phenotype.

PMID 19002718 2009 Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

PMID 23074044 2013 FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

rs1554109707 in FLT4 gene and Muscle hypotonia PMID 15689446 2005 Milroy disease and the VEGFR-3 mutation phenotype.

PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

PMID 19002718 2009 Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

PMID 24167460 2013 Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

PMID 23074044 2013 FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

PMID 12960217 2003 Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.