Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Hereditäres Lymphödem mit Distichiasis

Das hereditäre Lymphödem mit Distichiasis ist eine autosomal dominante Erkrankung, die durch Mutationen im FOXC2-Gen hervorgerufen wird.

Gliederung

Hereditäres Lymphödem
Emberger-Syndrom
Hennekam-Syndrom
Hereditäres Lymphödem Typ 1a
Hereditäres Lymphödem Typ 1c
Hereditäres Lymphödem Typ 1d
Hereditäres Lymphödem mit Distichiasis
FOXC2
Hereditäres Lymphödem mit Distichiasis, Diabetes und Nierenbeteiligung
FOXC2
Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom

Referenzen:

1.

Iida K et al. (1997) Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis.

external link
2.

Yabuki S et al. (2007) Spinal extradural arachnoid cysts associated with distichiasis and lymphedema.

external link
3.

Kumar S et al. (2007) A family with lymphoedema-distichiasis where identical twins have a discordant phenotype.

external link
4.

Patil BB et al. (2004) Distichiasis without lymphoedema?

external link
5.

Johnson SM et al. (1999) Lymphedema-distichiasis syndrome: report of a case and review.

external link
6.

Erickson RP et al. (1995) A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome.

external link
7.

Schwartz JF et al. (1980) Hereditary spinal arachnoid cysts, distichiasis, and lymphedema.

external link
8.

Pap Z et al. (1980) Syndrome of lymphoedema and distichiasis.

external link
9.

Corbett CR et al. (1982) Congenital heart disease in patients with primary lymphedemas.

external link
10.

Cilluffo JM et al. (1981) Idiopathic ("congenital") spinal arachnoid diverticula. Clinical diagnosis and surgical results.

external link
11.

None (1967) Congenital spinal extradural cyst in two siblings.

external link
12.

None (1968) Congenital intraspinal extradural cyst. Report of three cases in one family.

external link
13.

Robinow M et al. (1970) Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects.

external link
14.

None (1987) Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography.

external link
15.

Kolin T et al. (1991) Hereditary lymphedema and distichiasis.

external link
16.

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

external link
17.

Mellor RH et al. (2007) Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.

external link
18.

Yildirim-Toruner C et al. (2004) A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus.

external link
19.

FALLS HF et al. (1964) A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES.

external link
20.

Kriederman BM et al. (2003) FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.

external link
21.

Brice G et al. (2002) Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

external link
22.

Erickson RP et al. (2001) Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

external link
23.

Bell R et al. (2001) Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

external link
24.

Fang J et al. (2000) Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

external link
25.

Mangion J et al. (1999) A gene for lymphedema-distichiasis maps to 16q24.3.

external link
26.

Winnier GE et al. (1997) The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo.

external link
27.

OMIM.ORG article

Omim 153400 external link
28.

Wikipedia Artikel

Wikipedia DE (Meige-Syndrom) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz