Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) in PAX6 gene.
|
31707209 |
2019 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
WAGR syndrome (Wilms tumour, aniridia, genitourinary anomalies and mental retardation/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p.
|
30242502 |
2019 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome.
|
29343077 |
2018 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13.
|
29061165 |
2017 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
The Pax6, a transcriptional regulator and multifunctional protein, has been found critical for neurogenesis, neuro-degeneration, mental retardation, neuroendocrine tumors, glioblastoma and astrocytomas.
|
28476689 |
2017 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Of the clinical reports currently published examining patients with intact PAX6 genes but harboring deletions identified in genes downstream of PAX6, 100% indicate phenotypes which include aniridia, whereas approximately half report additional eye deformities, autism, or intellectual disability.
|
26419218 |
2016 |
Intellectual Disability
|
0.500 |
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
|
0.500 |
GeneticVariation
|
group |
BEFREE |
While the Wilms tumor/genitourinary anomalies and aniridia are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and autism in WAGR syndrome remains unknown.
|
19096215 |
2008 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
CTD_human |
Pax6 3' deletion results in aniridia, autism and mental retardation.
|
18322702 |
2008 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Pax6 3' deletion results in aniridia, autism and mental retardation.
|
18322702 |
2008 |
Intellectual Disability
|
0.500 |
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
|
0.500 |
Biomarker
|
group |
BEFREE |
Heterozygous, variably sized, contiguous gene deletions causing haploinsufficiency of the WT1 and PAX6 genes on chromosome 11p13, approximately 4 Mb centromeric to BDNF (11p14.1), result in the Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome.
|
18753648 |
2008 |
Intellectual Disability
|
0.500 |
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
|
0.500 |
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
|
0.500 |
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
|
0.500 |
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
|
0.500 |
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
|
0.500 |
GeneticVariation
|
group |
BEFREE |
One patient with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome) had deletion of 11p and had lost the paternal PAX6 allele.
|
12552561 |
2003 |
Intellectual Disability
|
0.500 |
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
|
0.500 |
GeneticVariation
|
group |
BEFREE |
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
|
11553050 |
2001 |
Intellectual Disability
|
0.500 |
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
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11.
|
2347591 |
1990 |
Intellectual Disability
|
0.500 |
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
|
0.500 |
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
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|