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WAGR Syndrome (Syndrome, WAGR)

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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 MENTAL RETARDATION.

Also Known As:

Syndrome, WAGR; WAGR Complex; WAGR Contiguous Gene 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: 21 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Wilms Tumor (Wilm's Tumor)
2.	Aniridia
3.	Mental Retardation (Idiocy)
4.	Obesity
5.	Urogenital Abnormalities

Experts

1.	Han, Joan C: 2 articles (11/2013 - 08/2008)
2.	Rennert, Owen M: 2 articles (11/2013 - 08/2008)
3.	Früh, B: 1 article (04/2015)
4.	August, P: 1 article (04/2015)
5.	Goldblum, D: 1 article (04/2015)
6.	Gerber-Hollbach, N: 1 article (04/2015)
7.	von Weissenfluh, C: 1 article (04/2015)
8.	Sharp, Stephen J: 1 article (11/2013)
9.	Tsao, Jack W: 1 article (11/2013)
10.	Butman, John A: 1 article (11/2013)

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. " 11/01/2013 - "We hypothesized that BDNF+/- would be associated with more severe cognitive impairment in subjects with WAGR syndrome. " 05/01/1999 - "Since this area is involved in a genetic disorder (WAGR syndrome) and because of interest in studying the regulation of the human BDNF gene, we have established a detailed transcript map of a 810-kb region clone in a yeast artificial chromosome (YAC), corresponding to a portion of this genomic locus. " 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." 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. " 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.	Congenital diaphragmatic herniaIBA 12/01/2006 - "The first report of an association between WAGR syndrome and congenital diaphragmatic hernia has recently been published. " 05/01/2005 - "These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital diaphragmatic hernia." 05/01/2005 - "Congenital diaphragmatic hernia in WAGR syndrome."
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.	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 09/23/2011 - "Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome."
7.	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). "
8.	Follicle Stimulating Hormone (Follitropin)FDA Link 12/01/1994 - "The gene maps distal to PAX-6 but proximal to the loci for brain-derived neurotrophic factor (BDNF) and the beta subunit of follicle stimulating hormone (FSHB), within a region previously implicated in the mental retardation component of some WAGR syndrome patients. "
9.	BezafibrateIBA 01/01/2012 - "We report the successful prevention of hypertriglyceridaemia-associated relapsing pancreatitis in a child with WAGR syndrome with Bezafibrate. " 01/01/2012 - "Bezafibrate to prevent relapsing pancreatitis in WAGR syndrome."
10.	Potocki-Shaffer syndromeIBA 01/01/2009 - " WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We"

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. "
2.	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. "