WT1-associated diseases
Image Gallery
[ (
||image_reduire{0,60}|inserer_attribut{alt,WT1-associated FSGS})
]
[
(
||image_reduire{0,60}|inserer_attribut{alt,WT-associated diffuse mesangial sclerosis})
]
[
(
||image_reduire{0,60}|inserer_attribut{alt,WT-associated diffuse mesangial sclerosis})
]
[
(
||image_reduire{0,60}|inserer_attribut{alt,Germline mutation of WT1})
]
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-Júnior 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#