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CLOVES syndrome
Summary
- Synonym
-
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- Definition
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0080351
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95196 | Chondroitin sulfate proteoglycan 5 | |
| P09326 | CD48 antigen | |
| P09382 | Galectin-1 | |
| P11717 | Cation-independent mannose-6-phosphate receptor | |
| P51654 | Glypican-3 | |
| P51689 | Arylsulfatase D | |
| Q01638 | Interleukin-1 receptor-like 1 | |
| Q13510 | Acid ceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000089 | Renal hypoplasia |
| HP:0003745 | Sporadic |
| HP:0001528 | Hemihypertrophy |
| HP:0012032 | Lipoma |
| HP:0002144 | Tethered cord |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0001744 | Splenomegaly |
| HP:0004437 | Cranial hyperostosis |
| HP:0000465 | Webbed neck |
| HP:0002667 | Nephroblastoma |
