FOXC2, forkhead box C2, 2303

N. diseases: 168; N. variants: 18
Disease: Distichiasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome. 29406328 2018
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Identification of a novel mutation in the FOXC2 gene in affected family members of three generations with lymphoedema of lower limbs without distichiasis, highlights the high phenotypic variability caused by FOXC2 mutations. 28959174 2017
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE We previously described six unrelated families with primary lymphedema-distichiasis in which patients showed different FOXC2 mutations located outside of the forkhead domain. 27276711 2016
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene. 24984567 2014
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE A clear relation emerged between genotype and phenotype because 4/5 (80%) probands with onset at birth showed FLT4 mutations and 4/5 (80%) probands without distichiasis and with FOXC2 mutations had an amino-acid substitution outside the forkhead domain. 22768468 2012
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Patients with a mutation in the FOXC2 transcription factor usually show lower limb lymphedema with onset at or after puberty, together with distichiasis. 21918810 2012
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency. 21464574 2011
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Here we describe a case of LD carrying a de novo frameshift mutation of FOXC2 who presented a prepubertal onset of lower limbs lymphedema and mild distichiasis associated with other anomalies such as webbing neck and ptosis. 20450314 2010
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Lymphedema-distichiasis (LD) syndrome is a rare autosomal dominant disorder of the FOXC2 gene, which codes for a forkhead transcription factor. 20552815 2010
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 Biomarker disease BEFREE The latter assay showed evidence of a duplicated region 5' of FOXC2 that could be causative for the patient's striking phenotype, which included both distichiasis and a hyperplastic refluxing lymphatic vascular and lymph node phenotype associated with pubertal onset lymphedema, scoliosis and strabismus. 20218083 2009
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE This is further confirmation that of the primary lymphoedemas, only lymphoedema with distichiasis is caused by FOXC2 mutations. 18197197 2008
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 Biomarker disease BEFREE Phenotype characterization facilitates the identification of causative genes, as has been demonstrated with VEGFR3 and FOXC2, in Milroy's disease and lymphedema-distichiasis respectively. 18519967 2008
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 Biomarker disease BEFREE Because lymphedema distichiasis is believed to be caused by lymphatic valve failure (reflux), and FOXC2 is highly expressed on venous valves in mouse embryos, we tested the hypothesis that FOXC2 mutations may be linked to venous valve failure and reflux. 17372167 2007
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations. 15906099 2005
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Mutation of the FOXC2 gene in familial distichiasis. 14566319 2003
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 Biomarker disease BEFREE We conclude that Foxc2 haploinsufficient mice mimic closely the distinctive lymphatic and ocular phenotype of LD patients. 12719382 2003
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 12485195 2002
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE All of them were shown to have mutations in FOXC2 with the exception of one family who had two affected subjects with lymphoedema and distichiasis and linkage consistent with the 16q24 locus. 12114478 2002
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. 11499682 2001
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. 11694548 2001
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 Biomarker disease BEFREE FOXC2 knockout mice display cardiovascular, craniofacial, and vertebral abnormalities similar to those seen in LD syndrome. 11078474 2000
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 Biomarker disease HPO