What are WT1-associated syndromes?

These are three rare, hereditary diseases: WAGR syndrome (WAGR), Denys-Drash syndrome (DDS), and Frasier syndrome (FS). What the three diseases have in common is that they are caused by genetic defects in the WT1 gene and are associated with an increased risk of Wilms tumors (a kidney tumor that especially occurs during childhood).

How are WT1-associated syndromes diagnosed?

The diagnosis is made clinically by experts who are experienced with syndromes. The diagnosis is confirmed by detection of a defect in the WT1 gene. The clinical signs are as follows:

WAGR: Wilms tumor risk, Aniridia (incomplete formation of the iris), urogenital malformation, mental Retardation

DDS: kidney disease (diffuse mesangial sclerosis, early kidney failure), genital malformations, maldevelopment of the gonads, Wilms tumor risk

FS: kidney disease (focal segmental glomerulosclerosis), maldevelopment of the gonads, genital malformations

What is the risk of cancer?

WAGR: Wilms tumor risk 30-60%

DDS: Wilms tumor risk 74-90%

FS: Wilms tumor risk only slightly increased

People with DDS and FS also have an increased risk of gonadal tumors (gonadoblastomas).

What causes WT1-associated syndromes?

WT1-associated syndromes are caused by a genetic change in the WT1 gene. This gene controls significant biological processes that are also important for kidney development.

Is there a treatment?

Medical care for children requires an expert, multi-professional team to work together closely with the affected family.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

Surveillance recommendation for the early detection of a Wilms tumor with an ultrasound of the kidneys every 3 months until the age of 7

Self-Care and Support

What should I pay special attention to?

Any new symptom that occurs should be evaluated by the treatment team.

Support Groups and Additional Information

Unfortunately, we are as yet unaware of any existing support groups for patients with WT1-associated syndrome. We will add new information as it becomes available.