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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:0002652 | Skeletal dysplasia |
| HP:0002664 | Neoplasm |
| HP:0002719 | Recurrent infections |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0002858 | Meningioma |
| HP:0003019 | Abnormality of the wrist |
| HP:0003199 | Decreased muscle mass |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0003715 | Myofibrillar myopathy |
