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Denys-Drash syndrome

Pathology: - nephropathy, nephrotic syndrome - diffuse mesangial sclerosis - genital abnormalities, &/or Wilms tumor Genetics: - most cases sporadic - autosomal recessive [3] (some may be autosomal dominant) - associated with defects in WT1 [3] Clinical manifestations: - phenotypic overlap with WAGR syndrome & Frasier syndrome Laboratory: - WT1 gene mutation Differential diagnosis: - WAGR syndrome - Frasier syndrome

General

hereditary neoplastic syndrome; cancer susceptibility syndrome

Properties

ASSOCIATED-NEOPLASM[S]: Wilm's tumor gonadoblastoma

Database Correlations

OMIM 194080

References

  1. OMIM :accession 194080
  2. UniProt :accession P19544
  3. Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2012, 2015, 2018.