WAGR syndrome

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WAGR syndrome

ORPHA:893Malformation syndrome

Also called Del(11)(p13) · Deletion 11p13 · Monosomy 11p13 · Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome

What it is

A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces.

Key facts

Prevalence
1-9 / 1 000 000 (at birth)
Age of onset
Antenatal, Neonatal
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

BDNFRole in the phenotype of
PAX6Role in the phenotype of
WT1Role in the phenotype of

ICD-10 codes

C64filed under a broader ICD-10 category — shared with 18 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 5528MESH D017624MONDO 0008681OMIM 194072OMIM 612469UMLS C0206115

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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