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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.

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

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2.

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

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3.

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

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4.

None (1965) CONGENITAL HEREDITARY LYMPHOEDEMA.

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5.

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

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6.

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.

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7.

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

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8.

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

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9.

None (1978) Congenital hereditary lymphedema in the pig.

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10.

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.

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

OMIM.ORG article

Omim 153100 external link
Update: Aug. 14, 2020
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