CLOVES syndrome
Information
- Disease name
- CLOVES syndrome
- Disease ID
- DOID:0080351
- Description
- "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25209813]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02399527 | Recruiting | Lymphatic Anomalies Registry for the Assessment of Outcome Data | June 2013 | June 2035 | |
| NCT05563831 | Recruiting | National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) | February 21, 2023 | December 31, 2028 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:10939
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.3
- Cross Reference ID (Disease Ontology)
- MIM:612918
- Cross Reference ID (Disease Ontology)
- ORDO:140944
- Exact Synonym (Disease Ontology)
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- OrphaNumber from OrphaNet (Orphanet)
- 140944