"WT1-Associated Syndromes" – What Is It?

These are three rare hereditary diseases: WAGR syndrome (WAGR), Denys-Drash syndrome (DDS), and Frasier syndrome (FS). The three diseases have in common that they are caused by genetic defects in the WT1 gene and are associated with an increased risk of Wilms’ tumors (a kidney tumor, particularly in children) and other abnormalities.

Overview of the Chapters on This Page:

  • WT1-Associated Syndromes – What Is It? (This Section)
  • How Is "WT1-Associated Syndromes" Diagnosed?
  • What Is the Risk of Cancer?
  • What Is Known About the Development of "WT1-Associated Syndromes"
  • Is There Any Treatment Available?
  • Medical Measures for Early Detection
  • WT1-Associated Syndromes – What You Can Do Yourself
  • Links and Further Information (e.g., From Support Groups)
  • WT1-Associated Syndromes – What Is It? (This Section)
  • How Is "WT1-Associated Syndromes" Diagnosed?
  • What Is the Risk of Cancer?
  • What Is Known About the Development of "WT1-Associated Syndromes"?
  • Is There Any Form of Treatment Available?
  • Medical Measures for Early Detection
  • WT1-Associated Syndromes – What You Can Do Yourself
  • Links (e.g., From Support Groups) and Further Information

How Is "WT1-Associated Syndromes" Diagnosed?

The diagnosis is made clinically by an expert experienced in syndromes. The detection of a defect in the WT1 gene confirms the diagnosis. The clinical signs are:

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 (gonads), Wilms tumor risk

FS: kidney disease (focal segmental glomerular sclerosis), 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 Is Known About the Development of "WT1-Associated Syndromes"?

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

Is There Any Form of Treatment Available?

Caring for children requires an expert multi-professional team that works closely with the family concerned.

Diagnosis of " WT1-Associated Syndromes" What's Next?

If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.

Diagnosis of " WT1-Associated Syndromes" What's Next?

If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.

Medical Measures for Early Detection

Wilms tumor early detection with sonography of the kidneys every 3 months until the age of 7

WT1-Associated Syndromes – What You Can Do Yourself

You Should Pay Attention to This

Your treatment team should clarify any new symptoms.

Further Information

Unfortunately, we are unaware of any support groups for patients with WT1-associated syndromes. As soon as we have new information, we will add it here. However, patients can also register for the CPS registry at any time or have this done by their doctors in charge.

Any further questions?

You can reach us by e-mail and telephone, or you can come to our consultation hours in person. For more information, please visit our contact page.