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WAGR syndrome - Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > WAGR syndrome

WAGR syndrome

Tuesday 11 October 2005

Definition: Microdeletion syndrome.

Synospsis

- Wilms tumor predisposition
- aniridia
- genital malformations
- urinary malformaions
- renal malformations
- renal anomalies

- rare congenital diaphragmatic hernia (15779010, 17194330)
- non-WIlms cystic tumor of the kidney (dysgenetic cysts) (17295033)

Genes involved:

- WT1

References

- van Heyningen V, Hoovers JM, de Kraker J, Crolla JA. Elevated risk of Wilms tumour in aniridia cases with submicroscopic WT1 deletion. J Med Genet. 2007 Jul 14;PMID: 17630404

- Dahan K, Kamal M, Noel LH, Jeanpierre C, Gubler MC, Brousse N, Mariaud de Serre NP. Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. Am J Kidney Dis. 2007 Jun;49(6):793-800. PMID: 17533022