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
Disease Ontology
DOID:3883
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 18 of 18 in total
Gene ID Gene Symbol Description Source
4436 MSH2 mutS homolog 2
5378 PMS1 PMS1 homolog 1, mismatch repair system component
6041 RNASEL ribonuclease L
6925 TCF4 transcription factor 4
7046 TGFBR1 transforming growth factor beta receptor 1
7048 TGFBR2 transforming growth factor beta receptor 2
8635 RNASET2 ribonuclease T2
114571 SLC22A9 solute carrier family 22 member 9
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
11480 Acvr2a activin receptor IIA
16653 Kras Kirsten rat sarcoma viral oncogene homolog
17126 Smad2 SMAD family member 2
17128 Smad4 SMAD family member 4
17350 Mlh1 mutL homolog 1
17688 Msh6 mutS homolog 6
21413 Tcf4 transcription factor 4
21812 Tgfbr1 transforming growth factor, beta receptor I
21813 Tgfbr2 transforming growth factor, beta receptor II
68195 Rnaset2b ribonuclease T2B
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29263 Acvr2a activin A receptor type 2A
29591 Tgfbr1 transforming growth factor, beta receptor 1
81810 Tgfbr2 transforming growth factor, beta receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
791890 rnaset2 ribonuclease T2
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399283 acvr2a.L activin A receptor type 2A L homeolog Xenopus laevis (African clawed frog)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
174044 sma-6 Serine/threonine-protein kinase receptor sma-6
175781 daf-4 Cell surface receptor daf-4;Serine/threonine-protein kinase receptor;receptor protein serine/threonine kinase
176829 daf-1 Cell surface receptor daf-1
190096 rnst-2 Ribonuclease T2 protein rnst-2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850462 GIT1 Git1p
855980 RNY1 ribonuclease T2

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