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FLT4 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FLT4 gene

The FLT4 gene provides instructions for making a protein that regulates the development and maintenance of the lymphatic system.

Normal Function

The FLT4 gene provides instructions for making a protein called vascular endothelial growth factor receptor 3 (VEGFR-3). This protein regulates the lymphatic system, which produces and transports fluids and immune cells throughout the body. VEGFR-3 is activated by two proteins, VEGF-C and VEGF-D. When these bind to the receptor, they trigger chemical signals 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 of these mutations change a single amino acid in the tyrosine kinase domains of the protein. These mutations disrupt VEGFR-3 signaling, causing lymphatic vessels to be small or absent. Because lymph fluid cannot be transported properly, it builds up in the body's tissues, resulting in swelling known as lymphedema.

Genomic Location

The FLT4 gene is found on chromosome 5.

Frequently Asked Questions

Milroy disease often presents as swelling of the lower legs, feet, or hands soon after birth. The swelling may be symmetrical and can be noticed as puffiness or a feeling of heaviness. In some cases, the swelling is mild and improves with age, but persistent or worsening edema warrants evaluation by a pediatrician or a lymphedema specialist.
definitive diagnosis usually involves a combination of clinical assessment and genetic testing. A blood sample is sent for targeted sequencing of the FLT4 gene, looking for known pathogenic variants. If a mutation is found, it confirms the diagnosis and helps guide family counseling.
Management focuses on reducing swelling and preventing complications. Compression garments, manual lymphatic drainage, and exercise are first‑line therapies. In severe cases, surgical options such as lymphovenous anastomosis or vascularized lymph node transfer may be considered. Early intervention improves outcomes.
Yes. Regular low‑impact exercise (e.g., walking, swimming), maintaining a healthy weight, avoiding prolonged standing or sitting, and elevating the affected limb when possible can help. Skin care to prevent infections and wearing properly fitted compression stockings are also important.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.