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
External Links
Disease Ontology
DOID:3852
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 25 of 25 in total
Gene ID Gene Symbol Description Source
6515 SLC2A3 solute carrier family 2 member 3
6652 SORD sorbitol dehydrogenase
7991 TUSC3 tumor suppressor candidate 3
10908 PNPLA6 patatin like phospholipase domain containing 6
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024