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Cowden syndrome 5
Summary
- Definition
- A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26.
- Super Class
- Cowden syndrome
External Links
- Disease Ontology
- DOID:0081001
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100006 | Neoplasm of the central nervous system |
| HP:0100031 | Neoplasm of the thyroid gland |
| HP:0100543 | Cognitive impairment |
| HP:0100579 | Mucosal telangiectasiae |
| HP:0100780 | Conjunctival hamartoma |
| HP:0200034 | Papule |
| HP:0200063 | Colorectal polyposis |
| HP:0000347 | Micrognathia |
| HP:0001626 | Abnormality of the cardiovascular system |
| HP:0000160 | Narrow mouth |
| 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 |
