Denys-Drash syndrome
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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
Differential diagnosis
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/194080
- ↑ UniProt http://www.uniprot.org/uniprot/P19544.html
- ↑ 3.0 3.1 3.2 Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2012, 2015, 2018.