Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary lymphedema type 1a

Hereditary lymphedema type 1a is an autosomal dominant disorder caused by mutations of the FLT4 gene.

Systematic

Hereditary lymphedema
Emberger syndrome
Hennekam syndrome
Hereditary lymphedema type 1a
FLT4
Hereditary lymphedema type 1c
Hereditary lymphedema type 1d
Hereditary lymphedema with distichiasis
Microcephaly-lymphedema-chorioretinopathy syndrome

References:

1.

Ferrell RE et. al. (1998) Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

[^]
2.

Karkkainen MJ et. al. (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.

[^]
3.

Evans AL et. al. (2003) Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

[^]
4.

Spiegel R et. al. (2006) Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

[^]
5.

Ghalamkarpour A et. al. (2006) Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

[^]
6.

Connell FC et. al. (2009) Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

[^]
7.

Ghalamkarpour A et. al. (2009) Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.

[^]
8.

Gordon K et al. (2013) Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.

[^]
9.

None (1978) Congenital hereditary lymphedema in the pig.

[^]
10.

None (1978) The pathogenesis of congenital hereditary lymphedema in the pig.

[^]
11.

Evans AL et. al. (1999) Mapping of primary congenital lymphedema to the 5q35.3 region.

[^]
12.

Holberg CJ et. al. (2001) Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families.

[^]
13.

HURWITZ PA et. al. (1964) PLEURAL EFFUSION IN CHRONIC HEREDITARY LYMPHEDEMA (NONNE, MILROY, MEIGE'S DISEASE). REPORT OF TWO CASES.

[^]
14.

None (1965) CONGENITAL HEREDITARY LYMPHOEDEMA.

[^]
15.

Brice G et. al. (2005) Milroy disease and the VEGFR-3 mutation phenotype.

[^]
16.

Balboa-Beltran E et. al. (2014) A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.

[^]
Update: Sept. 26, 2018