VEGFD

Chr XAD

vascular endothelial growth factor D

Also known as: FIGF, VEGF-D

The encoded protein is a secreted growth factor that stimulates angiogenesis, lymphangiogenesis, and endothelial cell growth by binding and activating VEGFR-2 and VEGFR-3 receptors. Mutations cause autosomal recessive primary lymphedema with predominantly lower limb involvement. This gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIMResearchSummary from RefSeq, UniProt
ADLOEUF 1.155 OMIM phenotypes
Clinical SummaryVEGFD
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.15LOEUF
pLI 0.000
Z-score 1.16
OE 0.66 (0.401.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.50Z-score
OE missense 0.88 (0.761.02)
121 obs / 137.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.66 (0.401.15)
00.351.4
Missense OE0.88 (0.761.02)
00.61.4
Synonymous OE1.12
01.21.6
LoF obs/exp: 9 / 13.6Missense obs/exp: 121 / 137.5Syn Z: -0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

VEGFD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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