Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary lymphedema type 1d

Milroy-like primary lymphedema is an autosomal dominant disorder caused by truncating mutations of the VEGFC gene.

Systematic

Hereditary lymphedema
Emberger syndrome
Hennekam syndrome
Hereditary lymphedema type 1a
Hereditary lymphedema type 1c
Hereditary lymphedema type 1d
VEGFC
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.

Villefranc JA et al. (2013) A truncation allele in vascular endothelial growth factor c reveals distinct modes of signaling during lymphatic and vascular development.

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3.

Finegold DN et al. (2001) Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

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4.

Rezaie T et al. (2008) Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

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5.

Emberger JM et al. (1979) [Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].

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6.

et al. () ////

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7.

OSTERLAND G et al. (1961) [Observations on Nonne-Milroy-Meige syndrome].

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8.

Avasthey P et al. (1968) Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema feet in a family.

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9.

Emerson PA et al. (1966) Yellow nails, lymphoedema, and pleural effusions.

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10.

Figueroa AA et al. (1983) Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature.

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11.

Herbert FA et al. (1983) Hereditary late-onset lymphedema with pleural effusion and laryngeal edema.

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12.

Wheeler ES et al. (1981) Familial lymphedema praecox: Meige's disease.

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13.

Andersson HC et al. (1995) Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications.

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Update: Sept. 26, 2018