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WAGR syndrome

Orpha number ORPHA893
Synonym(s) Deletion 11p13
Monosomy 11p13
Wilms tumor - aniridia - genitourinary anomalies - intellectual disability
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C0206115
  • C2931803
MeSH
  • C538295
  • D017624
MedDRA -

Summary

WAGR is an acronym for Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation syndrome. Wilms tumor or nephroblastoma is the most frequent renal tumor in children, accounting for 6 to 8% of pediatric cancers. About 1% of these tumors are associated with aniridia. The prevalence of WAGR syndrome is lower than 1 in 100,000 births. WAGR is associated with an increased risk of developing Wilms tumor, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. Atypical eye findings were reported in a boy who had bilateral microphthalmia, corneal anomalies and absent anterior chamber in the left eye with retinal dysfunction. Five of the reported cases also had severe obesity. Three other cases had duplication of the halluces. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, and is one of the best-studied 'contiguous gene syndromes' (Mendelian inherited disorders caused by deletions of adjacent genes on a chromosome). The obese patients carried a 11p14-p12 deletion. The microdeletion is de novo in most cases, but it may result from an inherited parental translocation. The karyotype of the patient should be determined to detect the presence of such a translocation. In the absence of any other anomalies, the risk of WAGR syndrome in subsequent pregnancies is no higher than that for the general population. In case of parental translocation, prenatal diagnosis may be made by karyotyping amniocytes using the fluorescent in situ hybridization (FISH) technique. About 10% of patients with WAGR develop renal failure. The cumulative risk of renal failure at 20 years of age is 38%. As a result, patients with Wilms tumor and aniridia or genitourinary abnormalities should be followed closely throughout life for signs of nephropathy.


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Detailed information

Summary information
Clinical practice guidelines
  • ES (2013,pdf)
Guidance for genetic testing
  • EN (2011,pdf)
Clinical genetics review
  • EN (2013)
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