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WT1-associated diseases

Tuesday 11 May 2004

Classification

- WT1-associated nephropathies

  • diffuse mesangial sclerosis (DMS)
  • focal and segmental glomerular sclerosis (FSGS)
  • WT1-associated nephrotic syndrome (#17541636#)

- WT-associated malformations

  • Denys-Drash syndrome
  • Frasier syndrome
  • cryptorchidy

- WT1 associated nonsyndromic Wilms tumors

  • constitutional WT1 mutations in nonsyndromic WT patients. (2.1%) (#15483024#)
  • Most mutations occurred in children with unilateral WT without associated genitourinary abnormalities. (#15483024#)
  • Two factors that may indicate that an individual is carrying a germline WT1 mutation are an early age of onset and stromal-predominant histology of the WT. (#15483024#)

Features

- WT1 gene

References

- Clinical and genetic findings of five patients with WT1-related disorders. Andrade JG, Guaragna MS, Soardi FC, Guerra-JĂșnior G, Mello MP, Maciel-Guerra AT. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1236-43. PMID: #19169475#

- Little SE, Hanks SP, King-Underwood L, Jones C, Rapley EA, Rahman N, Pritchard-Jones K. Frequency and heritability of WT1 mutations in nonsyndromic Wilms’ tumor patients: a UK Children’s Cancer Study Group Study. J Clin Oncol. 2004 Oct 15;22(20):4140-6. PMID: #15483024#

- Auber F, Lortat-Jacob S, Sarnacki S, Jaubert F, Salomon R, Thibaud E, Jeanpierre C, Nihoul-Fekete C. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). J Pediatr Surg. 2003 Jan;38(1):124-9; discussion 124-9. PMID: #12592634#