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 11 - 19 of 19 in total
Gene ID Gene Symbol Description Source
76459 Car12 carbonic anhydrase 12
171405 Slc22a27 solute carrier family 22, member 27
207151 Slc22a19 solute carrier family 22 (organic anion transporter), member 19
230099 Car9 carbonic anhydrase 9
236149 Slc22a26 solute carrier family 22 (organic cation transporter), member 26
236293 Slc22a29 solute carrier family 22. member 29
319800 Slc22a30 solute carrier family 22, member 30
434674 Slc22a28 solute carrier family 22, member 28
100037283 Rnaset2a ribonuclease T2A
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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