Denys-Drash syndrome
Findings
No curated finding names Denys-Drash syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.
Definition from the Mondo Disease Ontology (MONDO:0008682), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal death · Second trimester onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Enlarged kidneyHPOHP:0000105
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 1 reported patient
- Male pseudohermaphroditismHPO · MondoHP:0000037
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Neonatal respiratory distressHPOHP:0002643
- 1 of 1 reported patient
- Posterolateral diaphragmatic herniaHPOHP:0025193
- 1 of 1 reported patient
- Septate vagina
Show the remaining 4
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Gonadal dysgenesisHPOHP:0000133
- Occasional (5% to 29% of cases)
- Diffuse mesangial sclerosisMondoHP:0001967
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WT1HGNC:12796
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2015
Where it sits
Other names
6 names
Resolves to: Denys-Drash syndrome
- Also called
- Denys Drash syndromeDenys-Drash syndrome, autosomal dominant, somatic mutationDrash syndromenephrotic syndrome type 4Wilms tumor and pseudohermaphroditismWilms tumour and pseudohermaphroditism