Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Denys-Drash syndrome

The Denys-Drash syndrome is an autosomal recessive congenital disorder characterized by the triad of progressive renal disease, male pseudohermaphroditism, and Wilms tumor. The disorder is caused by heterozygous germline missense mutations in the zinc-finger motife (mainly exon 8 or 9) of the WT1 gene.

Systematic

Wilms tumor
Aniridia-Wilms-tumor syndrome
Denys-Drash syndrome
WT1
Somatic nephroblastoma
WAGR syndrome

References:

1.

Fischbach BV et al. (2005) WAGR syndrome: a clinical review of 54 cases.

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2.

van Heyningen V et al. (2007) Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.

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3.

Orphanet article

Orphanet ID 220 [^]
4.

OMIM.ORG article

Omim 194080 [^]
5.

Wikipedia article

Wikipedia EN (Denys–Drash_syndrome) [^]
Update: May 9, 2019