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Proteus syndrome
Summary
- Synonym
-
- Wiedemann's syndrome
- Definition
- A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues.
- Super Class
- PTEN hamartoma tumor syndrome
External Links
- Disease Ontology
- DOID:13482
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 207 | AKT1 | AKT serine/threonine kinase 1 | |
| 2719 | GPC3 | glypican 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6401 | SELE | selectin E | |
| 6403 | SELP | selectin P |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001004 | Lymphedema |
| HP:0001072 | Thickened skin |
| HP:0001167 | Abnormal finger morphology |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001363 | Craniosynostosis |
| HP:0001387 | Joint stiffness |
| HP:0001482 | Subcutaneous nodule |
| HP:0001519 | Disproportionate tall stature |
| HP:0001548 | Overgrowth |
