WILMS TUMOR 1

General Information (adopted from Orphanet):

Synonyms, Signs: NEPHROBLASTOMA
WT1
Number of Symptoms 1
OrphanetNr:
OMIM Id: 194070
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002667) Nephroblastoma 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wilms tumor (WT) is one of the most common solid tumors of childhood, occurring in 1 in 10,000 children and accounting for 8% of childhood cancers. It is believed to result from malignant transformation of abnormally persistent renal ...
Genotype-Phenotype Correlations OMIM Schumacher et al. (1997) identified 19 hemizygous WT1 gene mutations/deletions in tissue samples from 64 patients. The histology of the tumors with mutations was stromal-predominant in 15, triphasic in 3, blastemal-predominant in 1, and unknown in 2 cases. ...
Molecular genetics OMIM Haber et al. (1990) described a sporadic, unilateral Wilms tumor in which 1 allele of the WT1 candidate gene contained a 25-bp deletion spanning an exon-intron junction and leading to aberrant mRNA splicing and loss of 1 of ...