Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäres Lymphödem

Unter hereditärem Lymphödem werden alle erblichen Erkrankungen zusammengefasst, die mit einem Lymphödem einhergehen. Die Vererbung kann dominant aber auch rezessiv sein.

Symptome

Lymphödem
Das Lymphödem ist das wichtigste und manchmal einzigste Symptom des hereditären Lymphödems.

Gliederung

Erbliche Gefäßerkrankungen
Arteriosklerose
Generalisierte arterielle Verkalkung bei Kleinkindern
Hereditäres Angioödem
Hereditäres Lymphödem
Emberger-Syndrom
GATA2
Hennekam-Syndrom
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 1
CCBE1
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 2
FAT4
Hereditäres Lymphödem Typ 1a
FLT4
Hereditäres Lymphödem Typ 1c
GJC2
Hereditäres Lymphödem Typ 1d
VEGFC
Hereditäres Lymphödem mit Distichiasis
FOXC2
Hereditäres Lymphödem mit Distichiasis, Diabetes und Nierenbeteiligung
FOXC2
Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom
KIF11
Venöse thromboembolische Erkrankungen

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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.

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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.

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23.

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

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24.

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

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25.

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

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26.

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

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