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WAGR syndrome
Disease definition
A rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.
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: Q87.8
- 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)
- Guidance for genetic testing
- English (2011, pdf)
- Clinical genetics review
- English (2013)
Additional information
Further information on this disease
Health care 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.