Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genito-urinary abnormalities, and mental retardation.
|
21660403 |
2011 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
These include WAGR (for Wilms tumor, aniridia, genitourinary anomalies, and mental retardation), and Frasier and Denys-Drash syndromes.
|
18385267 |
2008 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation.
|
17935232 |
2007 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Aniridia usually occurs in isolation, but may also occur as part of the WAGR contiguous gene deletion syndrome, which includes Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation.
|
16646034 |
2006 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental retardation which is invariably associated with an 11p13 deletion.
|
15779023 |
2005 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome.
|
15702131 |
2005 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13.
|
15779010 |
2005 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The remaining four had chromosomal rearrangements: an unbalanced translocation, t(11;13), with a deletion including the WAGR (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) region, and three balanced rearrangements with what appear to be position effect breakpoints 3' of PAX6: (a) a t(7;11) with the 11p13 breakpoint approximately 30 kb downstream of PAX6, (b) a dir ins(12;11) with a breakpoint >50 kb from PAX6, and (c) an inv(11)(p13q13) with a breakpoint >75 kb downstream of PAX6.
|
12386836 |
2002 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Two eSTS markers have been further mapped with respect to a yeast artificial chromosome (YAC) contig close to the brain-derived neurotrophic factor (BDNF) gene and thus provide potential candidate genes for the mental retardation phenotype of WAGR (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) syndrome.
|
8717056 |
1995 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The Wilms tumour (WT1) gene was first localized through its deletion in individuals with the WAGR syndrome (Wilms tumour, aniridia, genitourinary abnormalities and mental retardation).
|
7833922 |
1994 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Patients with the WAGR syndrome (Wilm's tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome 11 allele encompassing the WT1 gene.
|
7687865 |
1993 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals.
|
2539014 |
1989 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
All four del(11)(p13) cases presented with WAGR, a complex syndrome associated with a predisposition to Wilms' tumor (WT), aniridia (A), genitourinary abnormalities (G), and mental retardation (R).
|
2570677 |
1989 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|