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Denys-Drash Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C84668

A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. [ ]

Term info

Label

Denys-Drash Syndrome

Synonyms
  • DDS
  • Denys Drash Syndrome
  • Denys-Drash Syndrome
  • Denys-Drash syndrome
  • Nephrotic Syndrome Type 4
Subsets

NCIT_C90259, NCIT_C123272, NCIT_C118467

ALT DEFINITION

A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer., A Wilms tumor 1 gene syndrome caused by various point mutation(s) affecting the zinc finger(s) of the Wilms tumor protein. This syndrome is characterized by congenital nephropathy (diffuse mesangial sclerosis), gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and high risk for development of Wilms tumor, an embryonal neoplasm defined by the presence of epithelial, mesenchymal, and blastema components.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

Maps To

Denys-Drash Syndrome

NICHD Hierarchy Term

Denys-Drash Syndrome

Preferred Name

Denys-Drash Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0950121

code

C84668