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Peutz-Jeghers syndrome
Summary
- Synonym
-
- Colonic hamartomatous polyp
- Peutz Jeghers colon polyp
- Peutz Jeghers polyp
- Peutz-Jeghers polyp of small Intestine
- gastric Peutz-Jeghers polyp
- peutz-jeghers small bowel hamartoma
- Definition
- An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
- Super Class
- intestinal disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 6391 | SDHC | succinate dehydrogenase complex subunit C | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D |
Related Glycoprotein
