Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Lynch syndrome
go back to main search page
Accession:DOID:3883 term browser browse the term
Definition:A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
Synonyms:exact_synonym: APC-mutation negative familial Colorectal cancer;   Colorectal Cancer Hereditary Nonpolyposis;   Colorectal Cancer, Non-Polyposis;   Familial Nonpolyposis Colon Cancer;   HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA;   HNPCC - hereditary nonpolyposis colon cancer;   Hereditary Defective Mismatch Repair syndrome;   Hereditary Nonpolyposis Colon Cancer;   hereditary nonpolyposis colorectal neoplasm
 primary_id: MESH:D003123
 alt_id: RDO:0001364
 xref: GARD:9905;   NCI:C120083;   NCI:C8494;   OMIM:PS120435;   ORDO:144
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Lynch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 JBrowse link 12 12,738,784 12,748,345 RGD:8554872
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
G Cd44 CD44 molecule (Indian blood group) JBrowse link 3 92,695,083 92,783,820 RGD:11554173
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 JBrowse link 1 83,653,248 83,662,118 RGD:8554872
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 6 109,044,830 109,051,254 RGD:8554872
G Epcam epithelial cell adhesion molecule JBrowse link 6 11,282,194 11,308,870 RGD:8554872
RGD:11554173
G Epm2aip1 EPM2A interacting protein 1 JBrowse link 8 119,524,039 119,531,387 RGD:8554872
G Fbxo11 F-box protein 11 JBrowse link 6 11,662,356 11,737,427 RGD:8554872
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792228
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792228
G Kcnk12 potassium two pore domain channel subfamily K member 12 JBrowse link 6 11,373,917 11,494,459 RGD:8554872
G Lrrfip2 LRR binding FLII interacting protein 2 JBrowse link 8 119,381,666 119,484,125 RGD:8554872
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:1625106
RGD:8554872
RGD:11554173
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:1600415
RGD:8554872
RGD:11554173
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:1625106
RGD:8554872
RGD:11554173
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
RGD:11554173
G Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 JBrowse link 9 53,110,628 53,120,454 RGD:8554872
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:1599137
RGD:8554872
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:1599142
RGD:8554872
RGD:11554173
RGD:1599137
G Rnasel ribonuclease L JBrowse link 13 71,188,712 71,202,636 RGD:2292000
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:1599900
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:1599900
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:1599900
G Stpg4 sperm-tail PG-rich repeat containing 4 JBrowse link 6 11,014,596 11,063,509 RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:2306282
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:11554173
RGD:8554872
G Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 JBrowse link 8 119,566,509 119,644,249 RGD:8554872
hereditary nonpolyposis colorectal cancer type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:7240710
RGD:8554872
RGD:11554173
hereditary nonpolyposis colorectal cancer type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:7240710
RGD:8554872
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
hereditary nonpolyposis colorectal cancer type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:7240710
RGD:8554872
hereditary nonpolyposis colorectal cancer type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:7240710
RGD:8554872
hereditary nonpolyposis colorectal cancer type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:7240710
RGD:8554872
hereditary nonpolyposis colorectal cancer type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epcam epithelial cell adhesion molecule JBrowse link 6 11,282,194 11,308,870 RGD:7240710
RGD:8554872
Lynch syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epcam epithelial cell adhesion molecule JBrowse link 6 11,282,194 11,308,870 RGD:11554173
RGD:8554872
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:8554872
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:8554872
RGD:11554173
RGD:7240710
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:11554173
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:8554872
G Rad51d RAD51 paralog D JBrowse link 10 70,222,703 70,241,352 RGD:8554872
Muir-Torre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhit fragile histidine triad diadenosine triphosphatase JBrowse link 15 15,697,292 16,862,873 RGD:13592920
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:7240710
RGD:8554872
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of cellular proliferation 5796
      Hereditary Neoplastic Syndromes 765
        Lynch syndrome 30
          Hereditary Nonpolyposis Colorectal Cancer Type 3 0
          Lynch syndrome 1 7
          hereditary nonpolyposis colorectal cancer type 2 + 3
          hereditary nonpolyposis colorectal cancer type 4 2
          hereditary nonpolyposis colorectal cancer type 5 1
          hereditary nonpolyposis colorectal cancer type 6 1
          hereditary nonpolyposis colorectal cancer type 7 1
          hereditary nonpolyposis colorectal cancer type 8 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Lynch syndrome 30
                  Hereditary Nonpolyposis Colorectal Cancer Type 3 0
                  Lynch syndrome 1 7
                  hereditary nonpolyposis colorectal cancer type 2 + 3
                  hereditary nonpolyposis colorectal cancer type 4 2
                  hereditary nonpolyposis colorectal cancer type 5 1
                  hereditary nonpolyposis colorectal cancer type 6 1
                  hereditary nonpolyposis colorectal cancer type 7 1
                  hereditary nonpolyposis colorectal cancer type 8 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.