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WAGR syndrome - causes, symptoms, diagnosis, treatment, pathology
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Overview

 

WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and intellectual disability (formerly referred to as mental retardation). A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome.

Sporadic aniridia mutations may affect the WT1 region adjacent to the AN2 aniridia region, causing a kidney cancer called nephroblastoma (Wilms tumor). These patients often also have genitourinary abnormalities and intellectual disability (WAGR syndrome).

People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults.

 

http://www.checkorphan.org/diseases/wagr-syndrome

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