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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 |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1113 | CHGA | chromogranin A | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3824 | KLRD1 | killer cell lectin like receptor D1 | |
| 4595 | MUTYH | mutY DNA glycosylase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
Related Glycoprotein
