WAGR syndrome

Summary
Synonym
  • 11p partial monosomy syndrome
  • Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
  • chromosome 11p13 deletion syndrome
Definition
A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:14515
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
847 CAT catalase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04040 Catalase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024