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WAGR syndrome
Disease definition
A rare genetic disorder characterized by the association of total or partial aniridia, genitourinary anomalies (ranging from sexual ambiguity to ectopia testis), variable degrees of intellectual disability, and an increased risk of developing Wilms tumor. Glaucoma or cataract are also possible, and a minority of patients develop kidney failure. Other varaible findings may include obesity and duplicated halluces.
ORPHA:893
Classification level: Disorder- Synonym(s):
- Del(11)(p13)
- Deletion 11p13
- Monosomy 11p13
- Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
- Prevalence: -
- Inheritance: Autosomal dominant
- Age of onset: Neonatal
- ICD-10: C64
- OMIM: 194072 612469
- UMLS: C0206115 C2931803
- MeSH: C538295 D017624
- GARD: 5528
- MedDRA: -
Detailed information
Article for general public
Professionals
- Summary information
- Slovak (2006, pdf)
- Clinical practice guidelines
- Español (2013, pdf)
- Français (2021)
- Guidance for genetic testing
- English (2011)
- Clinical genetics review
- English (2018)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.