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Cowden syndrome 6
Summary
- Synonym
-
- CWS6
- Definition
- A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3.
- Super Class
- Cowden syndrome
External Links
- Disease Ontology
- DOID:0081002
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P31749 | RAC-alpha serine/threonine-protein kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002808 | Kyphosis |
| HP:0002858 | Meningioma |
| HP:0002861 | Melanoma |
| HP:0003002 | Breast carcinoma |
| HP:0004322 | Short stature |
| HP:0004390 | Hamartomatous polyposis |
| HP:0005374 | Cellular immunodeficiency |
| HP:0005584 | Renal cell carcinoma |
| HP:0005595 | Generalized hyperkeratosis |
| HP:0006731 | Follicular thyroid carcinoma |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| 5728 | PTEN | phosphatase and tensin homolog |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
| 6391 | SDHC | succinate dehydrogenase complex subunit C |
| 6392 | SDHD | succinate dehydrogenase complex subunit D |
