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 1 - 10 of 25 in total
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

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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