| Symbol
| DDS
|
| Location
| 11p13
|
| Name
|
Denys Drash syndrome |
| Other name(s)
|
Drash syndrome
. Wilms tumor and pseudo-or true hermaphroditism |
| Corresponding gene
|
WT1
|
| Main clinical features
|
XY individuals with external genitalia that can range from ambiguous to normal appearing female
. infantile nephropathy with diffuse mesangial sclerosis glomerulopathy evolving towards chronic/end stage failure
. nephroblastoma (Wilms tumor) |
| Genetic determination
| autosomal dominant |
| Related entries
| WT1
|
| Function/system disorder
| sex-genitalia |
|
| kidney and urinary tract |
| Type
| disease
|
| Name
| isoforms of a zinc finger containing protein
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| various types
|
|
| mutations of various types in WT1 gene, mainly missense mutations in exons 8 and 9
| | missense
|
|
| most common mutation is a missence mutation in exon 9 1180C->T R394W
| |
| Genotype/Phenotype correlations
|
association with congenital diaphragmatic hernia in 3 cases with rare arg366his mutation |