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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:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001482 | Subcutaneous nodule |
| HP:0001508 | Failure to thrive |
| HP:0002516 | Increased intracranial pressure |
| HP:0002650 | Scoliosis |
| HP:0002664 | Neoplasm |
| 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 |
