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Hereditary lymphedema with distichiasis, diabetes, and renal involvement

Hereditary lymphedema with distichiasis, diabetes, and renal involvement is an autosomal dominant disorder caused by mutations of the FOXC2 gene. Renal involvement is characterized by recurrent infections, tubulointerstitial disease and glomerulosclerosis.

Systematic

Hereditary lymphedema with distichiasis
FOXC2
Hereditary lymphedema with distichiasis, diabetes, and renal involvement
FOXC2

References:

1.

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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2.

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

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3.

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

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4.

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

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5.

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

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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.

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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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.

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

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16.

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

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17.

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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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.

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19.

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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20.

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

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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.

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22.

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

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23.

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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24.

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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25.

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

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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.

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27.

OMIM.ORG article

Omim 153400 external link
Update: Aug. 14, 2020
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