MCID: MSM014
MIFTS: 51

Mismatch Repair Cancer Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases, Gastrointestinal diseases categories

Aliases & Classifications for Mismatch Repair Cancer Syndrome

About this section

Mismatch Repair Cancer Syndrome, Aliases & Descriptions:

Name: Mismatch Repair Cancer Syndrome 45 10 41
Turcot Syndrome 41 20 43 22 60
Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon 41
Constitutional Mismatch Repair Deficiency Syndrome 47
Cns Tumors with Familial Polyposis of the Colon 41
Brain Tumor-Polyposis Syndrome 41
Malignant Childhood Neoplasm 60
 
Mismatch Repair Deficiency 41
Glioma-Polyposis Syndrome 41
Childhood Cancer 43
Cmmr-D Syndrome 47
Mmr Deficiency 41
Mmrcs 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
constitutional mismatch repair deficiency syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM45 276300
Orphanet47 252202

Summaries for Mismatch Repair Cancer Syndrome

About this section


OMIM:45 Constitutional mismatch repair deficiency is a rare childhood cancer predisposition syndrome with 4 main tumor types:... (276300) more...

MalaCards based summary: Mismatch Repair Cancer Syndrome, also known as turcot syndrome, is related to lynch syndrome and endometrial cancer, and has symptoms including agenesis of corpus callosum, autosomal recessive inheritance and cafe-au-lait spot. An important gene associated with Mismatch Repair Cancer Syndrome is PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae)), and among its related pathways are Fanconi anemia pathway and Doxorubicin Pathway, Pharmacokinetics. The compounds mhs-2 and 6 thioguanine have been mentioned in the context of this disorder. Affiliated tissues include colon and brain, and related mouse phenotypes are digestive/alimentary and integument.

NIH Rare Diseases:41 Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. it may be associated with familial adenomatous polyposis (fap) or lynch syndrome (also known as hereditary non-polyposis colorectal cancer or hnpcc). the molecular basis of most turcot syndrome is either a mutation in apc associated with fap or a mutation in one of the mismatch repair genes associated with lynch syndrome (mlh1 and pms2). the brain tumors in individuals with apc mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme. turcot syndrome typically follows an autosomal dominant inheritance pattern. last updated: 8/29/2012

Wikipedia:63 Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch... more...

Related Diseases for Mismatch Repair Cancer Syndrome

About this section

Diseases related to Mismatch Repair Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1lynch syndrome30.2MLH1, PMS2, MSH6, MSH2
2endometrial cancer30.1MLH1, MSH6, MSH2
3sarcoma30.0MLH1, MSH2
4neurofibromatosis29.9MLH1, PMS2, MSH6, MSH2
5brain cancer29.9MSH2, MSH6
6adenomatous polyposis coli29.9MLH1, PMS2, MSH6, MSH2
7prostate cancer29.8MSH2, MSH6, PMS2
8muir-torre syndrome29.8MSH2, MSH6, MLH1
9colorectal cancer29.7MLH1, MSH6, MSH2
10adenoma29.4MLH1, PMS2, MSH6, MSH2
11adenocarcinoma29.4MSH2, MSH6, PMS2, MLH1
12breast cancer29.0MLH1, PMS2, MSH6, MSH2
13leukemia10.5
14astrocytoma10.4
15glioblastoma10.4
16malignant glioma10.3
17colon adenocarcinoma10.3
18medulloblastoma10.3
19mlh1-related turcot syndrome10.3
20msh2-related turcot syndrome10.3
21msh6-related turcot syndrome10.3
22pms2-related turcot syndrome10.3
23non-polyposis turcot syndrome10.3
24turcot syndrome with polyposis10.3
25glioma susceptibility 110.3
26neurofibromatosis, type 110.3
27premature menopause10.2
28glioblastoma multiforme10.2
29achondroplasia10.2
30testicular germ cell tumor10.2
31colon adenoma10.2
32colorectal adenocarcinoma10.2
33gastric lymphoma10.2
34childhood leukemia10.2
35myeloid leukemia10.2
36prostatitis10.2
37rhabdomyosarcoma10.2
38anaplastic ganglioglioma10.2
39familial colorectal cancer10.2
40optic pathway glioma10.2
41infertility10.2
42obesity10.1
43hodgkin lymphoma10.1
44gastrointestinal stromal tumor10.1
45colorectal adenoma10.1
46ganglioglioma10.1
47exostosis10.1
48pineoblastoma10.1
49retinitis10.1
50anaplastic oligoastrocytoma10.1

Graphical network of the top 20 diseases related to Mismatch Repair Cancer Syndrome:



Diseases related to mismatch repair cancer syndrome

Symptoms for Mismatch Repair Cancer Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

276300

Clinical features from OMIM:

276300

HPO human phenotypes related to Mismatch Repair Cancer Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 agenesis of corpus callosum rare (5%) HP:0001274
2 autosomal recessive inheritance HP:0000007
3 cafe-au-lait spot HP:0000957
4 axillary freckling HP:0000997
5 hypermelanotic macule HP:0001034
6 abnormality of the abdomen HP:0001438
7 leukemia HP:0001909
8 lymphoma HP:0002665
9 basal cell carcinoma HP:0002671
10 rhabdomyosarcoma HP:0002859
11 medulloblastoma HP:0002885
12 ependymoma HP:0002888
13 neuroblastoma HP:0003006
14 glioblastoma HP:0100843

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Mismatch Repair Cancer Syndrome

Search NIH Clinical Center for Mismatch Repair Cancer Syndrome

Genetic Tests for Mismatch Repair Cancer Syndrome

About this section

Genetic tests related to Mismatch Repair Cancer Syndrome:

id Genetic test Affiliating Genes
1 Turcot Syndrome20 22 PMS2

Anatomical Context for Mismatch Repair Cancer Syndrome

About this section

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome:

31
Colon, Brain

Animal Models for Mismatch Repair Cancer Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Mismatch Repair Cancer Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7MSH2, PMS2, MLH1
2MP:00107718.5MSH2, MSH6, MLH1
3MP:00020068.1MSH2, MSH6, PMS2, MLH1
4MP:00053848.1MLH1, PMS2, MSH6, MSH2
5MP:00053768.0MLH1, PMS2, MSH6, MSH2
6MP:00107687.7MLH1, PMS2, MSH6, MSH2

Publications for Mismatch Repair Cancer Syndrome

About this section

Variations for Mismatch Repair Cancer Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Mismatch Repair Cancer Syndrome:

62
id Symbol AA change Variation ID SNP ID
1MLH1p.Met35AsnVAR_043388
2PMS2p.Ser46IleVAR_066838

Clinvar genetic disease variations for Mismatch Repair Cancer Syndrome:

6 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
2MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
3MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
4MLH1MLH1, EX16DELdeletionPathogenic
5MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
6MLH1MLH1, 2-BP DEL, 593AGdeletionPathogenic
7MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
8MSH2MSH2, EX1-6 DELdeletionPathogenic
9MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
10PMS2PMS2, EX11-EX14 DEL/18-BP INSindelPathogenic
11MLH1NM_000249.3(MLH1): c.218T> G (p.Leu73Arg)single nucleotide variantPathogenicrs397514684GRCh37Chr 3, 37042456: 37042456
12MSH6NM_000179.2(MSH6): c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)deletionPathogenicGRCh37Chr 2, 48030772: 48030774
13MSH6MSH6, TRP1024TERundetermined variantPathogenic
14MSH6MSH6, 3-BP DEL, NT3609deletionPathogenic
15MSH6NM_000179.2(MSH6): c.3633dupT (p.Val1212Cysfs)duplicationPathogenicGRCh37Chr 2, 48032833: 48032833
16MSH6MSH6, 1-BP INS, 1596TinsertionPathogenic
17MSH6MSH6, 1-BP DEL, 3261CdeletionPathogenic
18MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
19MSH2NM_000251.2(MSH2): c.2006-5T> Asingle nucleotide variantPathogenicrs267607990GRCh37Chr 2, 47703501: 47703501
20PMS2NM_000535.5(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
21PMS2NM_000535.5(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
22PMS2NM_000535.5(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicGRCh37Chr 7, 6027175: 6027175
23PMS2PMS2, 4-BP DEL, 2361CTTCdeletionPathogenic
24PMS2NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
25PMS2PMS2, 2-BP DEL, 2184TCdeletionPathogenic
26PMS2PMS2, LYS577FSstructural variantPathogenic
27PMS2NM_000535.5(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenic, Pathogenicrs121434629GRCh37Chr 7, 6045549: 6045549
28PMS2PMS2, 20-BP INS, NT1169insertionPathogenic
29PMS2PMS2, 1-BP DEL, 182AdeletionPathogenic
30PMS2NM_000535.5(PMS2): c.219T> A (p.Cys73Ter)single nucleotide variantPathogenicrs121434630GRCh37Chr 7, 6043634: 6043634

Cosmic variations for Mismatch Repair Cancer Syndrome:

7 (show all 212)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
111084TP53central nervous system,brain,glioma,NS3
244169TP53central nervous system,brain,glioma,NS3
344226TP53central nervous system,brain,glioma,NS3
443945TP53central nervous system,brain,glioma,NS3
510834TP53central nervous system,brain,glioma,NS3
643833TP53central nervous system,brain,glioma,NS3
711498TP53central nervous system,brain,glioma,NS3
810912TP53central nervous system,brain,glioma,NS3
910867TP53central nervous system,brain,glioma,NS3
1011066TP53central nervous system,brain,glioma,NS3
1144327TP53central nervous system,brain,glioma,NS3
1210645TP53central nervous system,brain,glioma,NS3
1344204TP53central nervous system,brain,glioma,NS3
1410731TP53central nervous system,brain,glioma,NS3
1510739TP53central nervous system,brain,glioma,NS3
1610808TP53central nervous system,brain,glioma,NS3
1744092TP53central nervous system,brain,glioma,NS3
1810758TP53central nervous system,brain,glioma,NS3
1911305TP53central nervous system,brain,glioma,NS3
2043606TP53central nervous system,brain,glioma,NS3
2110690TP53central nervous system,brain,glioma,NS3
2210863TP53central nervous system,brain,glioma,NS3
2310718TP53central nervous system,brain,glioma,NS3
2410742TP53central nervous system,brain,glioma,NS3
2543900TP53central nervous system,brain,glioma,NS3
2610790TP53central nervous system,brain,glioma,NS3
2744221TP53central nervous system,brain,glioma,NS3
2843708TP53central nervous system,brain,glioma,NS3
2943651TP53central nervous system,brain,glioma,NS3
3011059TP53central nervous system,brain,glioma,NS3
3110701TP53central nervous system,brain,glioma,NS3
3245368TP53central nervous system,brain,glioma,NS3
3344877TP53central nervous system,brain,glioma,NS3
3444613TP53central nervous system,brain,glioma,NS3
3511210TP53central nervous system,brain,glioma,NS3
3644271TP53central nervous system,brain,glioma,NS3
3745045TP53central nervous system,brain,glioma,NS3
3810667TP53central nervous system,brain,glioma,NS3
3910659TP53central nervous system,brain,glioma,NS3
4010771TP53central nervous system,brain,glioma,NS3
4143970TP53central nervous system,brain,glioma,NS3
426932TP53central nervous system,brain,glioma,NS3
4343923TP53central nervous system,brain,glioma,NS3
4410662TP53central nervous system,brain,glioma,NS3
4543739TP53central nervous system,brain,glioma,NS3
4610889TP53central nervous system,brain,glioma,NS3
4744525TP53central nervous system,brain,glioma,NS3
4810660TP53central nervous system,brain,glioma,NS3
4944571TP53central nervous system,brain,glioma,NS3
5011250TP53central nervous system,brain,glioma,NS3
5111218TP53central nervous system,brain,glioma,NS3
5210704TP53central nervous system,brain,glioma,NS3
5310988TP53central nervous system,brain,glioma,NS3
5445796TP53central nervous system,brain,glioma,NS3
5544637TP53central nervous system,brain,glioma,NS3
5610779TP53central nervous system,brain,glioma,NS3
5711071TP53central nervous system,brain,glioma,NS3
5844057TP53central nervous system,brain,glioma,NS3
5911089TP53central nervous system,brain,glioma,NS3
6048817TP53central nervous system,brain,glioma,NS3
6110794TP53central nervous system,brain,glioma,NS3
6210935TP53central nervous system,brain,glioma,NS3
6343555TP53central nervous system,brain,glioma,NS3
6410687TP53central nervous system,brain,glioma,NS3
6544633TP53central nervous system,brain,glioma,NS3
6611087TP53central nervous system,brain,glioma,NS3
6710728TP53central nervous system,brain,glioma,NS3
6810648TP53central nervous system,brain,glioma,NS3
6910656TP53central nervous system,brain,glioma,NS3
7043767TP53central nervous system,brain,glioma,NS3
7143565TP53central nervous system,brain,glioma,NS3
7211392TP53central nervous system,brain,glioma,NS3
7311462TP53central nervous system,brain,glioma,NS3
743967199PTENcentral nervous system,brain,glioma,NS3
755043PTENcentral nervous system,brain,glioma,NS3
765243PTENcentral nervous system,brain,glioma,NS3
775137PTENcentral nervous system,brain,glioma,NS3
785113PTENcentral nervous system,brain,glioma,NS3
795253PTENcentral nervous system,brain,glioma,NS3
805089PTENcentral nervous system,brain,glioma,NS3
815109PTENcentral nervous system,brain,glioma,NS3
825127PTENcentral nervous system,brain,glioma,NS3
835212PTENcentral nervous system,brain,glioma,NS3
845036PTENcentral nervous system,brain,glioma,NS3
855185PTENcentral nervous system,brain,glioma,NS3
865269PTENcentral nervous system,brain,glioma,NS3
875051PTENcentral nervous system,brain,glioma,NS3
883967200PTENcentral nervous system,brain,glioma,NS3
89163810PTENcentral nervous system,brain,glioma,NS3
905186PTENcentral nervous system,brain,glioma,NS3
915275PTENcentral nervous system,brain,glioma,NS3
925268PTENcentral nervous system,brain,glioma,NS3
93775PIK3CAcentral nervous system,brain,glioma,NS3
9413570PIK3CAcentral nervous system,brain,glioma,NS3
956147PIK3CAcentral nervous system,brain,glioma,NS3
9612458PIK3CAcentral nervous system,brain,glioma,NS3
97776PIK3CAcentral nervous system,brain,glioma,NS3
981041479PIK3CAcentral nervous system,brain,glioma,NS3
99767PIK3CAcentral nervous system,brain,glioma,NS3
10012459PIK3CAcentral nervous system,brain,glioma,NS3
101760PIK3CAcentral nervous system,brain,glioma,NS3
10212463PIK3CAcentral nervous system,brain,glioma,NS3
103764PIK3CAcentral nervous system,brain,glioma,NS3
104249139PIK3CAcentral nervous system,brain,glioma,NS3
10512584PIK3CAcentral nervous system,brain,glioma,NS3
106751PIK3CAcentral nervous system,brain,glioma,NS3
10712591PIK3CAcentral nervous system,brain,glioma,NS3
108763PIK3CAcentral nervous system,brain,glioma,NS3
10941293IDH1central nervous system,brain,glioma,NS3
11028750IDH1central nervous system,brain,glioma,NS3
11151384IDH1central nervous system,brain,glioma,NS3
11228746IDH1central nervous system,brain,glioma,NS3
11341292IDH1central nervous system,brain,glioma,NS3
11428747IDH1central nervous system,brain,glioma,NS3
11541294IDH1central nervous system,brain,glioma,NS3
11628749IDH1central nervous system,brain,glioma,NS3
11728748IDH1central nervous system,brain,glioma,NS3
11841291IDH1central nervous system,brain,glioma,NS3
11934090IDH2central nervous system,brain,glioma,NS3
12086077IDH2central nervous system,brain,glioma,NS3
121144496IDH2central nervous system,brain,glioma,NS3
12234039IDH2central nervous system,brain,glioma,NS3
12341295IDH2central nervous system,brain,glioma,NS3
12433733IDH2central nervous system,brain,glioma,NS3
12533732IDH2central nervous system,brain,glioma,NS3
12633731IDH2central nervous system,brain,glioma,NS3
12721687EGFRcentral nervous system,brain,glioma,NS3
12821690EGFRcentral nervous system,brain,glioma,NS3
1291451549EGFRcentral nervous system,brain,glioma,NS3
13013979EGFRcentral nervous system,brain,glioma,NS3
13135752EGFRcentral nervous system,brain,glioma,NS3
13221683EGFRcentral nervous system,brain,glioma,NS3
13313029PTPN11central nervous system,brain,glioma,NS3
13424612PTPN11central nervous system,brain,glioma,NS3
13513035PTPN11central nervous system,brain,glioma,NS3
13613993PTPN11central nervous system,brain,glioma,NS3
1371681078CICcentral nervous system,brain,glioma,NS3
138303956CICcentral nervous system,brain,glioma,NS3
1391737905CICcentral nervous system,brain,glioma,NS3
1401684815PDGFRAcentral nervous system,brain,glioma,NS3
14113348PDGFRAcentral nervous system,brain,glioma,NS3
14243059PDGFRAcentral nervous system,brain,glioma,NS3
1431266238SMARCA4central nervous system,brain,glioma,NS3
144303247SMARCA4central nervous system,brain,glioma,NS3
14513366STYK1central nervous system,brain,glioma,NS3
1461716195STYK1central nervous system,brain,glioma,NS3
147467BRAFcentral nervous system,brain,glioma,NS3
148476BRAFcentral nervous system,brain,glioma,NS3
14913324MTORcentral nervous system,brain,glioma,NS3
1501662881MTORcentral nervous system,brain,glioma,NS3
1511669313TANC1central nervous system,brain,glioma,NS3
1521669315TANC1central nervous system,brain,glioma,NS3
15313373TRIM33central nervous system,brain,glioma,NS3
15413372TRIM33central nervous system,brain,glioma,NS3
1551681227IL4I1central nervous system,brain,glioma,NS3
1561716185LETM1central nervous system,brain,glioma,NS3
157132886KRAScentral nervous system,brain,glioma,NS3
15813327GUCY2Fcentral nervous system,brain,glioma,NS3
15913331INSRRcentral nervous system,brain,glioma,NS3
16013332IRAK1central nervous system,brain,glioma,NS3
1611212907KSR1central nervous system,brain,glioma,NS3
1621676183KAT5central nervous system,brain,glioma,NS3
1631679282KARScentral nervous system,brain,glioma,NS3
164244789GRB7central nervous system,brain,glioma,NS3
165679210EPHA8central nervous system,brain,glioma,NS3
1661670399CBLBcentral nervous system,brain,glioma,NS3
1671200426CDH16central nervous system,brain,glioma,NS3
1681246131BLKcentral nervous system,brain,glioma,NS3
169917933ANKRD30Acentral nervous system,brain,glioma,NS3
17039766ACLYcentral nervous system,brain,glioma,NS3
1711348446ANK3central nervous system,brain,glioma,NS3
17213272CDKN2Acentral nervous system,brain,glioma,NS3
173417011CREBBPcentral nervous system,brain,glioma,NS3
17413320EPHB6central nervous system,brain,glioma,NS3
175684ERBB2central nervous system,brain,glioma,NS3
17639419FGFR3central nervous system,brain,glioma,NS3
17726928LIN28Acentral nervous system,brain,glioma,NS3
17813318EPHA6central nervous system,brain,glioma,NS3
1791675009EHMT1central nervous system,brain,glioma,NS3
1801681167ELSPBP1central nervous system,brain,glioma,NS3
18113323FLT1central nervous system,brain,glioma,NS3
182580NRAScentral nervous system,brain,glioma,NS3
1831045668SMARCC1central nervous system,brain,glioma,NS3
184989762SOCS6central nervous system,brain,glioma,NS3
1851374208SMAD3central nervous system,brain,glioma,NS3
18613363SIK1central nervous system,brain,glioma,NS3
1871668574SLC35F3central nervous system,brain,glioma,NS3
1881267026SUMF2central nervous system,brain,glioma,NS3
1891671363TMEM154central nervous system,brain,glioma,NS3
19013374TYRO3central nervous system,brain,glioma,NS3
1911371355TSHRcentral nervous system,brain,glioma,NS3
1921080380TINAGcentral nervous system,brain,glioma,NS3
19354432TAF4Bcentral nervous system,brain,glioma,NS3
19421289TEX14central nervous system,brain,glioma,NS3
1951716243TFDP1central nervous system,brain,glioma,NS3
1961265475SH2D3Ccentral nervous system,brain,glioma,NS3
197485575PMS2P11central nervous system,brain,glioma,NS3
1981470691POTEMcentral nervous system,brain,glioma,NS3
199475213ZNF845central nervous system,brain,glioma,NS3
200443415ZAP70central nervous system,brain,glioma,NS3
201420536MUC7central nervous system,brain,glioma,NS3
2021680324NOL4central nervous system,brain,glioma,NS3
20313349PDK2central nervous system,brain,glioma,NS3
2041088134PRPS1L1central nervous system,brain,glioma,NS3
20539437RAC2central nervous system,brain,glioma,NS3
2061111027ROR2central nervous system,brain,glioma,NS3
20795220RUNX1T1central nervous system,brain,glioma,NS3
2081668765RAB10central nervous system,brain,glioma,NS3
209551917YY1central nervous system,brain,glioma,NS3
21013355PTK2central nervous system,brain,glioma,NS3
2111673725PTPRN2central nervous system,brain,glioma,NS3
21213341MSH6central nervous system,brain,glioma,NS3

Expression for genes affiliated with Mismatch Repair Cancer Syndrome

About this section
Search GEO for disease gene expression data for Mismatch Repair Cancer Syndrome.

Pathways for genes affiliated with Mismatch Repair Cancer Syndrome

About this section

Pathways related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3MLH1, PMS2
2
Show member pathways
9.3MSH2, MLH1
3
Show member pathways
Catalytic cycle of mammalian FMOs36
9.3MSH2, MLH1
4
Show member pathways
9.1MSH2, MSH6
5
Show member pathways
9.1MSH2, MSH6
6
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.1MSH2, MSH6
79.1MSH2, MSH6
88.8MSH2, PMS2, MLH1
98.5MSH2, MSH6, MLH1
108.5MSH2, MSH6, MLH1
11
Show member pathways
Signal transduction PTEN pathway58
8.5MLH1, MSH6, MSH2
128.5MSH2, MSH6, MLH1
13
Show member pathways
8.5MLH1, MSH6, MSH2
14
Show member pathways
8.0MSH2, MSH6, PMS2, MLH1

Compounds for genes affiliated with Mismatch Repair Cancer Syndrome

About this section

Compounds related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idCompoundScoreTop Affiliating Genes
1mhs-2439.6MLH1, PMS2
26 thioguanine439.5MSH2, MLH1
3mnng439.5MSH2, MLH1
4temozolomide43 1210.4MSH2, MLH1
5carboplatin43 49 1211.3MSH2, MLH1
65fluorouracil439.3MSH2, MLH1
7thymidylate439.2MSH2, MLH1
8adenine43 24 1211.0MSH2, MLH1
9n-methyl-n-nitrosourea438.8MLH1, MSH6, MSH2
10mononucleotide438.8MLH1, MSH6, MSH2
11o6-methylguanine438.8MSH2, MSH6, MLH1
12doxorubicin43 49 1210.7MLH1, MSH6, MSH2
13cisplatin43 49 59 1211.6MLH1, MSH6, MSH2
14crcs438.3MSH2, MSH6, PMS2, MLH1
15biotin43 24 1210.3MSH2, MSH6, PMS2, MLH1
16paraffin438.2MSH2, MSH6, PMS2, MLH1

GO Terms for genes affiliated with Mismatch Repair Cancer Syndrome

About this section

Cellular components related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mismatch repair complexGO:00323009.3PMS2, MLH1
2MutLalpha complexGO:00323899.2MLH1, PMS2
3MutSalpha complexGO:00323019.2MSH2, MSH6
4nuclear chromosomeGO:00002288.8MSH2, MSH6
5nucleolusGO:00057308.5MSH6, PMS2, MLH1

Biological processes related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00007109.3MSH2, MSH6
2maintenance of DNA repeat elementsGO:00435709.2MSH2, MSH6
3positive regulation of helicase activityGO:00510969.2MSH6, MSH2
4negative regulation of DNA recombinationGO:00459109.1MSH2, MSH6
5DNA repairGO:00062819.1MSH2, MSH6
6determination of adult lifespanGO:00083409.0MSH2, MSH6
7somatic recombination of immunoglobulin gene segmentsGO:00164478.8PMS2, MSH6, MSH2
8intrinsic apoptotic signaling pathway in response to DNA damageGO:00086308.7MSH6, MLH1
9isotype switchingGO:00451908.7MLH1, MSH6, MSH2
10reciprocal meiotic recombinationGO:00071318.7MSH6, PMS2, MLH1
11somatic hypermutation of immunoglobulin genesGO:00164468.3MSH2, MSH6, PMS2, MLH1
12mismatch repairGO:00062988.2MSH2, MSH6, PMS2, MLH1
13ATP catabolic processGO:00062008.2MSH2, MSH6, PMS2, MLH1

Molecular functions related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1MutSalpha complex bindingGO:00324079.5MLH1, PMS2
2single thymine insertion bindingGO:00321439.4MSH2, MSH6
3single guanine insertion bindingGO:00321429.4MSH2, MSH6
4oxidized purine DNA bindingGO:00323579.4MSH2, MSH6
5MutLalpha complex bindingGO:00324059.3MSH2, MSH6
6four-way junction DNA bindingGO:00004009.3MSH6, MSH2
7mismatched DNA bindingGO:00309839.2MSH2, MSH6
8ADP bindingGO:00435319.1MSH6, MSH2
9magnesium ion bindingGO:00002879.1MSH2, MSH6
10single-stranded DNA bindingGO:00036979.1MLH1, PMS2, MSH2
11DNA-dependent ATPase activityGO:00080949.0MSH2, MSH6
12double-stranded DNA bindingGO:00036908.8MSH2, MSH6
13guanine/thymine mispair bindingGO:00321378.8MSH2, MSH6, MLH1
14ATPase activityGO:00168878.3MLH1, PMS2, MSH6, MSH2
15ATP bindingGO:00055248.1MSH2, MSH6, PMS2, MLH1

Products for genes affiliated with Mismatch Repair Cancer Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mismatch Repair Cancer Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet