Preferred Label : Denys-Drash syndrome;
ICD-11 definition : A disease affecting males, caused by mutations in the Wilms tumour suppressor (WT1)
gene. This disease is characterized by nephropathy (diffuse mesangial sclerosis) and
pure gonadal dysgenesis with male pseudohermaphroditism (with a 46 XY karyotype) or
Wilms tumour, leading to rapid decline of the glomerular filtration rate and end stage
renal disease. This disease may also present with oedema, abdominal distention, or
recurrent infections and poor feeding or growth, decreased activity and oliguria.
Confirmation is by detection of proteinuria in a routine urine sample.;
ICD-11 synonym : Wilms tumour or pseudohermaphroditism; Drash syndrome;
Origin ID : 904981302;
Automatic exact mappings (from CISMeF team)
A disease affecting males, caused by mutations in the Wilms tumour suppressor (WT1)
gene. This disease is characterized by nephropathy (diffuse mesangial sclerosis) and
pure gonadal dysgenesis with male pseudohermaphroditism (with a 46 XY karyotype) or
Wilms tumour, leading to rapid decline of the glomerular filtration rate and end stage
renal disease. This disease may also present with oedema, abdominal distention, or
recurrent infections and poor feeding or growth, decreased activity and oliguria.
Confirmation is by detection of proteinuria in a routine urine sample.
