WAGR syndrome; Wilms tumor-aniridia-genitourinary anomalies-mental retardation

Genetics

• chromosomal microdeletions at 11p13
• deletion of LUZP2 gene
• mutation in Wilms tumor 1 gene

Clinical manifestations

• Wilms tumor (nephroblastoma)
• mental retardation
• obesity
• aniridia
• genitourinary malformations
  • hypospadius
  • cryptorchidism
  • uterine malformations
  • renal failure

Laboratory

• WT1 gene mutation

More general terms

• developmental disorder syndrome (multisystem disorder)
• hereditary neoplastic syndrome; cancer susceptibility syndrome

Database

• OMIM: https://mirror.omim.org/entry/194072