WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Denys-Drash Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene.CDH in DDS is rare. 18203154 2008
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing. 8112732 1994
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 Biomarker disease BEFREE DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. 7795587 1995
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE This report describes a novel WT1 gene mutation in a DDS patient. 20562648 2010
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. 1338906 1992
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Patients with Denys-Drash syndrome (DDS) have been shown to be constitutionally heterozygous for mutations of the WT1 gene. 9168922 1997
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. 7607640 1995
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome. 10505699 1999
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE The decision to do prophylactic nephrectomies was based on the genetic identification of WT1 mutations supporting a diagnosis of incomplete DDS, with the potential for increased risk of malignancy with the development of Wilms' tumour. 14671061 2004
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins. 11322369 2001
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism. 10571943 1999
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE In this report, we describe a family with the well-known missense mutation in exon 9 of the WT1 gene, 1180C>T (R394W), causing incomplete DDS and no symptoms in their father. 23715653 2013
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the WT1 gene causing Wilms tumors were first reported in WAGR syndrome (Wilms tumor, Aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, Wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or WAGR syndrome WT1 mutations were identified. 10022588 1999
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 Biomarker disease BEFREE Mutant WT1 proteins in Denys-Drash syndrome patients were unable to activate this promoter. 11278460 2001
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Deletions of the WT1 gene or point mutations which destroy the DNA binding activity of the protein are associated with the development of the pediatric nephroblastoma Wilms tumor and Denys-Drash syndrome. 8393820 1993
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Cys388Phe is a novel mutation in the WT1 gene in the DDS. 11228042 2000
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Therefore the site of the mutation in the WT-1 gene in this patient cannot exclude the possibility that he has DDS. 8393425 1993
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the WT1 gene can lead to Denys-Drash syndrome or Frasier syndrome and can also cause isolated nephrotic syndrome (NS). 22763603 2013
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome. 8381368 1993
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE All described patients presented with similar neuroimaging features including thin corpus callosum, mild to moderate cerebellar atrophy and diffuse periventricular and profound hypomyelinating leukodystrophy involving supratentorial white matter with classical compromise linked to inherited non-somatic WT1 gene mutations in a similar pattern to Denys-Drash syndrome, including nephrotic syndrome with different glomerular disease, chronic renal failure, intersex disorder with ambiguous genitalia, and early occurrence of specific tumors, such as Wilms' tumor and gonadoblastoma. 29801916 2018
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). 21614510 2012
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Constitutional missense mutations in the WT1 gene are usually associated with the Denys-Drash syndrome, characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. 14745636 2004
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE The association of WT1 gene mutations with most cases of Denys-Drash syndrome is well described. 10762296 2000
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE We encountered a patient with Denys-Drash syndrome associated with WT whose WT1 gene had a homozygous point mutation not only in WT but also in renal tissue adjacent to the WT and in the germline. 7875294 1995
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		1.000 GeneticVariation disease BEFREE Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene. 17935232 2007