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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
General
developmental disorder syndrome (multisystem disorder)
hereditary neoplastic syndrome; cancer susceptibility syndrome
Properties
ASSOCIATED-NEOPLASM[S]: Wilm's tumor
Database Correlations
OMIM 194072
References
OMIM 194072