WAGR syndrome

Also known as: Wilms tumor, aniridia, genitourinary anomalies, range of developmental delays

Contiguous gene deletion syndrome at 11p13.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: BDNF, PAX6, WT1

Etiology & mechanism

Deletion of WT1 and PAX6, with BDNF deletion causing obesity.

Gene(s) involved (3)

BDNFPAX6WT1

Symptoms & signs (6)

aniridiachildhood-onset obesitygenitourinary anomalieshyperphagiaintellectual disabilitywilms tumor

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.