Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary lymphedema type 1c

Hereditary lymphedema type 1c is an autosomal dominant disorder caused by mutations of the GJC2 gene.

Systematic

Hereditary lymphedema
Emberger syndrome
Hennekam syndrome
Hereditary lymphedema type 1a
Hereditary lymphedema type 1c
GJC2
Hereditary lymphedema type 1d
Hereditary lymphedema with distichiasis
Microcephaly-lymphedema-chorioretinopathy syndrome

References:

1.

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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2.

Ferrell RE et. al. (2010) GJC2 missense mutations cause human lymphedema.

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3.

Ostergaard P et. al. (2011) Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

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4.

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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Update: Sept. 26, 2018