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Article

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

American journal of human genetics - 1 Aug 2000

Irrthum A, Karkkainen M J, Devriendt K, Alitalo K, Vikkula M

Abstract excerpt

Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as "Milroy disease," has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate gene for the disease, VEGFR3 (FLT4), that encodes a receptor tyrosine kinase specific for lymphatic vessels. To...

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Identifiers

PMID: 10856194
DOI: 10.1086/303019
PMCID: PMC1287178

Genes

FLT4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.PMID 10856194Read ↗

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