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Article

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

Journal of human genetics - 1 Jan 2006

Spiegel Ronen, Ghalamkarpour Arash, Daniel-Spiegel Etty, Vikkula Miikka, A Shalev Stavit

Abstract excerpt

Hereditary lymphedema type I (HL-I), also known as Milroy disease, is an autosomal dominant disorder characterized by typical phenotype of infantile onset lower-limb lymphedema accompanied by variable expression of recurrent episodes of cellulites, toenail changes, and papillomatosis. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR3), also known as FLT4 gene, which encodes a lymphatic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16924388
DOI: 10.1007/s10038-006-0031-3

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

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.Semantic proximity Read ↗

A novel VEGFR3 mutation causes Milroy disease.Semantic proximity Read ↗

A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.Semantic proximity Read ↗

Milroy disease and the VEGFR-3 mutation phenotype.Semantic proximity Read ↗

Recessive primary congenital lymphoedema caused by a <i>VEGFR3</i> mutationSemantic proximity Read ↗

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedemaSemantic proximity Read ↗

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.Semantic proximity Read ↗

Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.Semantic proximity Read ↗

A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema.Semantic proximity Read ↗

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.Semantic proximity Read ↗

Compound heterozygosity for a variably penetrant variant and a variant of unknown significance in FLT4 causes fully penetrant Milroy's lymphedema.Semantic proximity Read ↗

Milroy's primary congenital lymphedema in a male infant and review of the literature.Semantic proximity Read ↗

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