WAGR syndrome
Definition: Microdeletion syndrome.
Synospsis
Wilms tumor predisposition
aniridia
genital malformations
urinary malformaions
renal malformations
renal anomalies
- small glomeruli (#17533022#)
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#