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Denys-Drash syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic.
Disease Ontology Description An autosomal dominant disease 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).
Mondo Term and Equivalent IDs
MONDO:0008682:  Denys-Drash syndrome
GARD:0005576: 
MESH:D030321: 
NCIT:C84668: 
Orphanet:220: 
SCTID:236385009: 
UMLS:C0950121: 
UMLS:C3151568: