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 |
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome.
|
29320783 |
2017 |
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
|
27241786 |
2016 |
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype-phenotype associations in WT1 glomerulopathy.
|
24402088 |
2014 |
Denys-Drash Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
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 |
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
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 |
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS).
|
21614510 |
2012 |
Denys-Drash Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
|
21851196 |
2011 |
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report describes a novel WT1 gene mutation in a DDS patient.
|
20562648 |
2010 |
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.
|
19797313 |
2010 |
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 |
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396).
|
18040647 |
2008 |
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 |
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Gonadal effects of a mouse Denys-Drash syndrome mutation.
|
16245160 |
2005 |
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome.
|
15509792 |
2004 |
Denys-Drash Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
|
15150775 |
2004 |
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 |
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 |
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis.
|
15349765 |
2004 |
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7.
|
12161615 |
2002 |
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins.
|
11322369 |
2001 |
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutant WT1 proteins in Denys-Drash syndrome patients were unable to activate this promoter.
|
11278460 |
2001 |
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.
|
11519891 |
2001 |