Gene "VEGFA"
Found 1 record
Gene information
Gene symbol:
VEGFA
See related:
Ensembl: ENSG00000112715, Gene ID: 7422
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    VEGFA:c.-460C>T
    Gene:
    VEGFA
    Genomic location:
    chr6:43737486
    dbSNP ID:
    rs833061
    Target disease:
    Pseudoxanthoma Elasticum(DOID_2738)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    VEGFA gene polymorphisms might prove useful as a prognostic marker for development of PXE associated retinopathy leading to earlier therapeutic intervention in order to prevent loss of central vision.
    Reference:
    PMID23802012
    Title:
    New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.
    Species studied:
    Human
    Abstract:
    Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.