Beckwith-Wiedemann syndrome
Information
- Disease name
- Beckwith-Wiedemann syndrome
- Disease ID
- DOID:5572
- Description
- "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations." [url:http\://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome, url:http\://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00945009 | Active, not recruiting | Phase 3 | Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor | July 13, 2009 | |
| NCT01916148 | Available | 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia | |||
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT04993235 | Recruiting | Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development | May 28, 2021 | December 31, 2023 | |
| NCT05945576 | Recruiting | IDMet (RaDiCo Cohort) (RaDiCo-IDMet) | March 10, 2017 | March 10, 2032 | |
| NCT06346418 | Recruiting | N/A | Maternal Genes and Epimutations: Beckwith-Wiedemann Syndrome & Reproductive Risks | May 19, 2023 | May 2025 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:3343
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.3
- Cross Reference ID (Disease Ontology)
- MESH:D001506
- Cross Reference ID (Disease Ontology)
- MIM:130650
- Cross Reference ID (Disease Ontology)
- NCI:C34415
- Cross Reference ID (Disease Ontology)
- ORDO:116
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:81780002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0004903
- OrphaNumber from OrphaNet (Orphanet)
- 116
- MeSH unique ID (MeSH (Medical Subject Headings))
- D001506