Lynch syndrome

Summary
Synonym
  • COCA 1
  • HNPCC - hereditary nonpolyposis colon cancer
  • Hereditary Defective Mismatch Repair syndrome
  • Hereditary non-polyposis colon cancer
  • Hereditary non-polyposis colon cancer syndrome
  • Hereditary non-polyposis colorectal cancer
  • Hereditary non-polyposis colorectal cancer syndrome
  • Hereditary nonpolyposis colon cancer
  • Hereditary nonpolyposis colon cancer syndrome
  • Hereditary nonpolyposis colorectal cancer syndrome
  • hereditary nonpolyposis colorectal cancer
  • hereditary nonpolyposis colorectal neoplasm
Definition
A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:3883
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 21 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
410 ARSA arylsulfatase A
570 BAAT bile acid-CoA:amino acid N-acyltransferase
960 CD44 CD44 molecule (IN blood group)
1048 CEACAM5 CEA cell adhesion molecule 5
1087 CEACAM7 CEA cell adhesion molecule 7
1312 COMT catechol-O-methyltransferase
1543 CYP1A1 cytochrome P450 family 1 subfamily A member 1
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 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