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Cowden syndrome 6
Summary
- 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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000717 | Autism |
| HP:0000767 | Pectus excavatum |
| HP:0000771 | Gynecomastia |
| HP:0000820 | Abnormality of the thyroid gland |
| HP:0000853 | Goiter |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0000995 | Melanocytic nevus |
| HP:0001048 | Cavernous hemangioma |
| HP:0001053 | Hypopigmented skin patches |
| HP:0001156 | Brachydactyly |
| 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 |
