Denys-Drash syndrome
Information
- Disease name
- Denys-Drash syndrome
- Disease ID
- DOID:3764
- Description
- "A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene)." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01252901 | Completed | Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases | October 2010 | June 2014 | |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT06065852 | Recruiting | National Registry of Rare Kidney Diseases | November 6, 2009 | December 31, 2039 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:5576
- Cross Reference ID (Disease Ontology)
- MESH:D030321
- Cross Reference ID (Disease Ontology)
- MIM:194080
- Cross Reference ID (Disease Ontology)
- NCI:C84668
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:236385009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0950121
- OrphaNumber from OrphaNet (Orphanet)
- 220
- MeSH unique ID (MeSH (Medical Subject Headings))
- D030321