Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
increased cancer risk
psychosocial impact kidney function impairment |
| gptkbp:associated_with |
gptkb:nephroblastoma
endocrine disorders other syndromes congenital anomalies gonadal dysgenesis |
| gptkbp:cause |
gptkb:Wilms_tumor
nephropathy |
| gptkbp:characterized_by |
early onset kidney disease
genital abnormalities male pseudohermaphroditism |
| gptkbp:clinical_trial |
ongoing research
failure to thrive hematuria investigating new therapies abdominal mass studying genetic factors |
| gptkbp:clinical_use |
pediatric oncology
multidisciplinary approach pediatric nephrology |
| gptkbp:diagnosis |
variable
genetic testing |
| gptkbp:discovered_by |
gptkb:Denys-Drash
|
| gptkbp:events |
regular monitoring
management of kidney function screening for tumors |
| gptkbp:financial_support |
gptkb:educational_materials
support groups available resources |
| gptkbp:first_described_by |
1970s
|
| gptkbp:genetic_studies |
recommended
important for families |
| gptkbp:historical_significance |
first described in 1967
|
| https://www.w3.org/2000/01/rdf-schema#label |
Denys-Drash syndrome
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:mutation_in |
gptkb:WT1_gene
|
| gptkbp:prevalence |
rare
|
| gptkbp:related_to |
gptkb:DSS_syndrome
|
| gptkbp:research_focus |
improving treatment outcomes
identifying new mutations understanding WT1 gene function |
| gptkbp:risk_factor |
family history
genetic mutations |
| gptkbp:symptoms |
hypertension
edema proteinuria |
| gptkbp:treatment |
gptkb:surgery
chemotherapy renal replacement therapy |
| gptkbp:bfsParent |
gptkb:Wilms_tumor
|
| gptkbp:bfsLayer |
7
|