| Home Page |
| Orphanet | References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 21/12/2005 |
| Symbol | WT1 | |||||||||
| Location | 11p13 | |||||||||
| Name | Wilms tumor 1 | |||||||||
| Other name(s) | nephroblastoma | |||||||||
| Corresponding gene | WT1 | |||||||||
| related resource | Wilms Tumour database | |||||||||
| Main clinical features |
| |||||||||
Genetic determination
| Prevalence
| ~1/8 000-10 000 children, the most common pediatric kidney cancer
| Related entries
| . Wilms tumor predisposition syndromes include WAGR syndrome (WAGR), Denys-Drash syndrome (DDS) at chr 11p13, and Beckwith-Wiedemann syndrome (BWS) at chr 11p15
| Function/system disorder
| kidney and urinary tract |
| neoplasia | Type
| susceptibility factor
| |
| Gene product |
| Name | antioncogene, zinc finger transcription factor critical to normal development of the kidneys and gonads |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
| deletion
| haploinsufficiency
| usually deletions of chr 11p13 that include both Pax6 and WT1
| missense
|
|
| DDS with mutations in WT1 exons 8 and 9
| abnormal splicing
|
|
| Frasier syndrome with point mutations in WT1 inton 9 donor splice site
| imprinting defect
|
|
| imprinting defects of a silencer element acting on imprinted WT1 transcripts may contribute to Wilms'tumorigenesis
| |
| Remark(s) | 10-15p.100 of WT are considered to have an heritable cause. Mutations in WT1 are rarely implicated in familial cases. Genetic linkage analysis have mapped predisposition genes to 17q (FWT1) and 19q (FWT2). Other familial Wilms tumor genes are likely to exist. |