Details of Disease

General Information of Disease (ID: DISSORMZ)

• Disease Name: Denys-Drash syndrome
• Synonyms: pseudohermaphroditism, nephron disorder and Wilms' tumour; nephropathy associated with male pseudohermaphroditism and Wilms' tumour; Wilms tumor and pseudo- or true hermaphroditism; Wilms tumour and pseudo- or true hermaphroditism; nephropathy, Wilms tumor, and genital anomalies; DDS; pseudohermaphroditism, nephron disorder and Wilms' tumor; nephropathy associated with male pseudohermaphroditism and Wilms' tumor; Denys-Drash syndrome, autosomal dominant, somatic mutation; Drash syndrome; nephrotic syndrome type 4; Wilms tumour and pseudohermaphroditism; Wilms tumor and pseudohermaphroditism; Denys Drash syndrome; Denys-Drash syndrome
• Definition: 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.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS3HIWD: Autosomal dominant disease
  DIS78CGG: 46,XY disorder of sex development
  DISSORMZ: Denys-Drash syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008682
  MESH ID: D030321
  UMLS CUI: C0950121
  OMIM ID: 194080
  MedGen ID: 181980
  Orphanet ID: 220
  SNOMED CT ID: 236385009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WT1	OTP7KC3D	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
WT1	TTZ8UT4	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.