WAGR Syndrome (Syndrome, WAGR)

A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.

Also Known As:

Syndrome, WAGR; 11p Partial Monosomy Syndrome; Chromosome 11p13 Deletion Syndrome; WAGR Complex; WAGR Contiguous Gene Syndrome; Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome; Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome; Complex, WAGR; WAGR Complices; WAGR Syndromes; Contiguous Gene Syndrome, WAGR; Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome; Wilms Tumor-Aniridia-Genitourinary Anomalies-MR Syndrome; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Networked: 26 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Aniridia
2.	Wilms Tumor (Wilm's Tumor)
3.	Neoplasms (Cancer)
4.	Intellectual Disability (Idiocy)
5.	Obesity

Experts

1.	Han, Joan C: 2 articles (11/2013 - 08/2008)
2.	Rennert, Owen M: 2 articles (11/2013 - 08/2008)
3.	Tyagi, Richa: 2 articles (09/2011 - 02/2009)
4.	Visweswariah, Sandhya S: 2 articles (09/2011 - 02/2009)
5.	Chi, Yueh-Yun: 1 article (01/2020)
6.	Chintagumpala, Murali M: 1 article (01/2020)
7.	Dome, Jeffrey S: 1 article (01/2020)
8.	Ehrlich, Peter F: 1 article (01/2020)
9.	Fernandez, Conrad V: 1 article (01/2020)
10.	Geller, James I: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to WAGR Syndrome:

1.	Brain-Derived Neurotrophic Factor (BDNF)IBA 11/01/2013 - "In summary, among subjects with WAGR syndrome, BDNF+/- subjects had a mean Vineland Adaptive Behaviour Compose score that was 14-points lower and a mean intelligence quotient (IQ) that was 20-points lower than BDNF+/+ subjects. " 11/01/1994 - "A 1.7-Mb YAC contig around the human BDNF gene (11p13): integration of the physical, genetic, and cytogenetic maps in relation to WAGR syndrome." 01/01/2016 - "Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversion, serve as models for understanding the role of BDNF in human energy balance and neurocognition. " 11/01/2013 - "We hypothesized that BDNF+/- would be associated with more severe cognitive impairment in subjects with WAGR syndrome. " 03/10/2013 - "The variable appearance and/or description of haploinsufficiency for obesity susceptibility in the WAGR syndrome mainly depends on the critical region located within 80 kb of exon 1 of BDNF. "
2.	DNA (Deoxyribonucleic Acid)IBA 08/01/1993 - "The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. " 01/01/2020 - "Because of the significant occurrence of "WAGR-region" deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. " 10/03/1991 - "Wilms' tumour (WT), aniridia, genitourinary abnormalities and mental retardation form a symptom group (WAGR syndrome) associated with hemizygous deletions of DNA in chromosome band 11p13 (refs 1,2). "
3.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2023 - "This was a retrospective comparative study of 25 aniridia subjects with nonsense mutations of PAX6 (50 eyes) and 25 WAGR syndrome subjects with large deletion mutations involving PAX6 (50 eyes). "
4.	DNA ProbesIBA 07/01/1989 - "The map localizes 35 different DNA probes and reveals at least nine areas with features characteristic of HTF islands, some of which may be candidates for the different loci underlying the phenotype of the WAGR syndrome. "
5.	Molecular Probes (Molecular Probe)IBA 08/12/1988 - "The association of Wilms' tumor with aniridia (the WAGR complex) in children with 11p13 chromosomal abnormalities has been established, but the paucity of molecular probes in 11p13 has hampered identification of the responsible genes. "
6.	Proteins (Proteins, Gene)FDA Link 02/20/2009 - "We performed a large scale bioinformatic analysis to identify orthologs of the Rv0805 protein and identified many eukaryotic genes that included the human 239FB gene present in the region deleted in the WAGR syndrome. "
7.	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 09/23/2011 - "Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome."
8.	Phosphoric Diester Hydrolases (Phosphodiesterases)IBA 09/23/2011 - "Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome."
9.	MetalsIBA 01/01/2007 - "Although mild-to-moderate intellectual disability is usually considered part of WAGR syndrome (Wilms' tumour (WT), Aniridia, Genital abnormalities, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the syndrome is little reported in the literature. "
10.	gamma-Aminobutyric Acid (GABA)IBA 07/01/2006 - "We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, genital abnormalities, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072). "

Therapies and Procedures

1.	Nephrectomy 11/01/1996 - "A right nephrectomy was performed following the diagnosis of Wilms' tumor in a 2-year-old girl with WAGR syndrome and chromosome 11, del 11p13. " 01/01/2020 - "A primary objective of Children's Oncology Group study AREN0534 (Treatment for Patients With Multicentric or Bilaterally Predisposed, Unilateral Wilms Tumor) was to facilitate partial nephrectomy in 25% of children with bilaterally predisposed unilateral tumors (Wilms tumor/aniridia/genitourinary anomalies/range of developmental delays [WAGR] syndrome; and multifocal and overgrowth syndromes). "
2.	Stents 12/01/2023 - "To report a case of XEN45 gel stent implantation in a pediatric patient with WAGR syndrome as a successful surgical intervention in the management of multifactorial secondary open-angle glaucoma. " 12/01/2023 - "A 6-year-old female with a history of WAGR syndrome, bilateral congenital aniridia, pseudophakia OD and glaucoma OD, was referred for a XEN45 gel stent OD. "
3.	Therapeutics 09/01/1996 - "We report a case of WAGR syndrome, with Stage-IV Wilms' tumor and intracaval extension, treated by multimodal therapy."
4.	Aftercare (After-Treatment) 07/01/2005 - "Patients with Wilms' tumor, aniridia, major genitourinary malformations, and mental retardation, the WAGR syndrome, have a 50% chance of unexplained end-stage renal disease 20 years after treatment. "