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Cowden syndrome 7
Summary
- Definition
- A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11.
- Super Class
- Cowden syndrome
External Links
- Disease Ontology
- DOID:0081003
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007565 | Multiple cafe-au-lait spots |
| HP:0008069 | Neoplasm of the skin |
| HP:0008675 | Enlarged polycystic ovaries |
| HP:0009720 | Adenoma sebaceum |
| HP:0010614 | Fibroma |
| HP:0012032 | Lipoma |
| HP:0012062 | Bone cyst |
| HP:0012114 | Endometrial carcinoma |
| HP:0012733 | Macule |
| HP:0012740 | Papilloma |
| 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 |
