WAGR syndrome
Information
- Disease name
- WAGR syndrome
- Disease ID
- DOID:14515
- Description
- "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." [url:http\://en.wikipedia.org/wiki/WAGR_syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00758108 | Completed | Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions | September 11, 2008 | April 29, 2015 | |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 |
- Disase is a (Disease Ontology)
- DOID:0060388
- Cross Reference ID (Disease Ontology)
- GARD:5528
- Cross Reference ID (Disease Ontology)
- MESH:D017624
- Cross Reference ID (Disease Ontology)
- MIM:194072
- Cross Reference ID (Disease Ontology)
- NCI:C3718
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715215007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0206115
- Exact Synonym (Disease Ontology)
- 11p partial monosomy syndrome
- Exact Synonym (Disease Ontology)
- chromosome 11p13 deletion syndrome
- Exact Synonym (Disease Ontology)
- Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 893
- MeSH unique ID (MeSH (Medical Subject Headings))
- D017624