WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: WAGR SYNDROME
WAGR
CHROMOSOME 11p13 DELETION SYNDROME
Number of Symptoms 8
OrphanetNr:
OMIM Id: 194072
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[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
2
(HPO:0000130) Abnormality of the uterus 86 / 7739
3
(HPO:0000047) Hypospadias 250 / 7739
4
(HPO:0000083) Renal insufficiency 232 / 7739
5
(HPO:0000028) Cryptorchidism 347 / 7739
6
(HPO:0000526) Aniridia 12 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0001513) Obesity 172 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Miller et al. (1964) first described the association of aniridia, hemihypertrophy, and other congenital anomalies with Wilms tumor. The syndrome subsequently became known as the WAGR syndrome. In addition to 'genitourinary abnormalities,' the 'G' in WAGR syndrome may ...
Molecular genetics OMIM In WAGR syndrome, aniridia is due to the PAX6 gene, whereas the other features are probably due to the WT1 gene.