Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
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.

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

None () ////

external link
7.

None (1961) [Observations on Nonne-Milroy-Meige syndrome].

external link
8.

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

external link
9.

None (1966) Yellow nails, lymphoedema, and pleural effusions.

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

OMIM.ORG article

Omim 153200 external link
15.

Orphanet article

Orphanet ID 77240 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits