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Genetic and Rare Diseases Information Center (GARD)

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Denys-Drash syndrome

Other Names for this Disease
  • Drash syndrome
  • Nephropathy associated with male pseudohermaphroditism and Wilms' tumor
  • Nephropathy, wilms tumor, and genital anomalies
  • Pseudohermaphroditism, nephron disorder and Wilms' tumor
  • Wilms tumor and pseudohermaphroditism
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Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. The testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. Affected females usually have normal genitalia. For this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. Denys-Drash syndrome is caused by mutations in the WT1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.[1]
Last updated: 10/28/2013


  1. Denys-Drash syndrome. Genetics Home Reference (GHR). March 2013; Accessed 10/28/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Denys-Drash syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Denys-Drash syndrome. Click on the link to view a sample search on this topic.

Insurance Issues

  • The Social Security Administration (SSA) created the Compassionate Allowance Initiative to speed up the processing of disability claims for applicants with certain conditions. Click on the link to view the Compassionate Allowance information for kidney cancer, a cancer associated with this condition. More information about applying for Social Security disability benefits is available online.
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