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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 414 | ARSD | arylsulfatase D | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 962 | CD48 | CD48 molecule | |
| 2719 | GPC3 | glypican 3 | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3956 | LGALS1 | galectin 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 9173 | IL1RL1 | interleukin 1 receptor like 1 | |
| 10675 | CSPG5 | chondroitin sulfate proteoglycan 5 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 |
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:0001852 | Sandal gap |
| HP:0010301 | Spinal dysraphism |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0100559 | Lower limb asymmetry |
| HP:0003577 | Congenital onset |
| HP:0000324 | Facial asymmetry |
| HP:0004099 | Macrodactyly |
| HP:0001548 | Overgrowth |
| HP:0012721 | Venous malformation |
| HP:0002650 | Scoliosis |
