MMRCS
MCID: TRC032
MIFTS: 75

Turcot Syndrome (MMRCS) malady

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

Summaries for Turcot Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

MalaCards: Turcot Syndrome, also known as mismatch repair cancer syndrome, is related to lynch syndrome and neurofibromatosis, and has symptoms including uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer, hepatic/liver neoplasm/tumor/carcinoma/cancer and pancreatic/pancreas neoplasm/tumor/carcinoma/cancer. An important gene associated with Turcot Syndrome is PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae)), and among its related pathways are Busulfan Pathway, Pharmacodynamics and Presenilin action in Notch and Wnt signaling. The compounds methylazoxymethanol acetate and 1-hydroxyanthraquinone have been mentioned in the context of this disorder. Affiliated tissues include colon, brain and uterus, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Wikipedia:66 Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch... more...

Description from OMIM:48 276300

Aliases & Classifications for Turcot Syndrome

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek, 63UMLS, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
constitutional mismatch repair deficiency syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood
non-polyposis turcot syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

turcot syndrome 44 21 23 46 63
mismatch repair cancer syndrome 44 48
malignant tumors of the central nervous system associated with familial polyposis of the colon 44
constitutional mismatch repair deficiency syndrome 50
cns tumors with familial polyposis of the colon 44
brain tumor-polyposis syndrome 44
non-polyposis turcot syndrome 50
mismatch repair deficiency 44
glioma-polyposis syndrome 44
cmmr-d syndrome 50
mmr deficiency 44
mmrcs 44


External Ids:

OMIM48 276300
ICD10 via Orphanet27 C18

Related Diseases for Turcot Syndrome

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Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Turcot Syndrome family:

Mlh1-Related Turcot Syndrome Msh2-Related Turcot Syndrome
Msh6-Related Turcot Syndrome Pms2-Related Turcot Syndrome

Diseases related to Turcot Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1lynch syndrome30.7PMS2, MLH1, MSH6, MSH2
2neurofibromatosis30.5PMS2, MLH1, MSH6, MSH2
3medulloblastoma30.4CTNNB1, APC, TP53
4malignant glioma30.4TP53, PTEN, MSH2
5familial adenomatous polyposis30.4MSH6, TP53, APC, PMS1, PMS2, MLH1
6astrocytoma30.3GAPDH, MSH2, TP53, PTEN, MLH1
7glioblastoma multiforme30.3PTEN, MSH2, TP53
8ovarian cancer30.2MLH1, PMS2, CTNNB1, MSH2, MSH6, PTEN
9gardner syndrome30.2APC, CTNNB1
10familial colorectal cancer30.2MSH2, MSH6, MLH1, APC, PTEN
11endometrial carcinoma30.2MLH1, CTNNB1, PTEN, TP53
12muir-torre syndrome30.1MLH1, MSH6, MSH2
13colon cancer29.9MLH1, CTNNB1, APC, MSH2, MSH6, TP53
14prostate cancer29.8PMS2, APC, PMS1, PTEN, TP53, MSH6
15adenoma29.8MSH2, MLH1, GAPDH, TP53, MSH6, CTNNB1
16colorectal cancer29.7CTNNB1, MSH2, MSH6, TP53, APC, PTEN
17adenocarcinoma29.7MSH2, PMS2, PTEN, TP53, MLH1, GAPDH
18brain tumor-polyposis syndrome 210.4
19leukemia10.4
20germ cell tumors10.3
21glioma somatic10.2
22mlh1-related turcot syndrome10.2
23msh2-related turcot syndrome10.2
24msh6-related turcot syndrome10.2
25pms2-related turcot syndrome10.2
26colorectal adenocarcinoma10.2
27gastric lymphoma10.2
28achondroplasia10.2
29childhood leukemia10.2
30colon adenocarcinoma10.2
31prostatitis10.2
32rhabdomyosarcoma10.2
33optic pathway glioma10.2
34testicular germ cell tumor10.2
35gemistocytic astrocytoma10.1PTEN
36gliomatosis cerebri10.1PTEN
37giant cell glioblastoma10.1PTEN
38small intestine cancer10.1MLH1, MSH6
39gliosarcoma10.1PTEN
40non-hodgkin lymphoma10.1
41juvenile polyposis syndrome10.1APC, PTEN
42intestinal neoplasm10.1APC, CTNNB1
43hepatocellular adenoma10.1CTNNB1, APC
44desmoid tumor10.1APC, CTNNB1
45colorectal cancer, somatic10.1CTNNB1, APC
46colorectal adenoma10.1
47ganglioglioma10.1
48exostosis10.1
49pineoblastoma10.1
50retinitis10.1

Graphical network of the top 20 diseases related to Turcot Syndrome:



Diseases related to turcot syndrome

Symptoms for Turcot Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

276300

Clinical features from OMIM:

276300

Symptoms:

50 (show all 55)
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • delirium/hallucination
  • visual/auditory/tactile agnosia/propopagnosia/simultagnosia
  • troubles of memory/amnesia/hypermnesia
  • psychic/psychomotor regression/dementia/intellectual decline
  • alexia/agraphia/writing/reading troubles
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • benign tumor of the brain/nervous system
  • neuroblastoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • sarcoma
  • thyroid neoplasm/tumor/carcinoma/cancer
  • pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer
  • elocution disorders/dysarthria/dysphonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • hypertonia/spasticity/rigidity/stiffness
  • hypotonia
  • motor deficit/trouble
  • cranial hypertension
  • facial pain/cephalalgia/migraine
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • asthenia/fatigue/weakness
  • autosomal dominant inheritance
  • glial tumor/glioblastoma
  • colon neoplasm/tumor/carcinoma/cancer
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • constipation
  • malabsorption/chronic diarrhea/steatorrhea
  • intestinal transit disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperactivity/attention deficit
  • psychic/behavioural troubles
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • pyramidal syndrome
  • abnormal gait
  • polyposis of the bowel/colon/intestine
  • skin tumors/lumps/epidermal cysts
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • transient amaurosis/acute visual trouble
  • visual loss/blindness/amblyopia
  • early death in adulthood
  • death in infancy
  • autosomal recessive inheritance
  • rectum/rectal neoplasm/tumor/carcinoma/cancer
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • acute abdominal pain/colic

Drugs & Therapeutics for Turcot Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Turcot Syndrome

Drug clinical trials:

Search ClinicalTrials for Turcot Syndrome

Search NIH Clinical Center for Turcot Syndrome

Search CenterWatch for Turcot Syndrome

Genetic Tests for Turcot Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Turcot Syndrome:

id Genetic test Affiliating Genes
1 Turcot Syndrome21 23 PMS2

Anatomical Context for Turcot Syndrome

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34MalaCards
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MalaCards organs/tissues related to Turcot Syndrome:

34
Colon, Brain, Uterus, Ovary, Skin, Cervix, Pancreas, Liver, Pituitary, Bone, Thyroid, Spinal cord, Small intestine

Animal Models for Turcot Syndrome or affiliated genes

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38MGI
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Publications for Turcot Syndrome

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53PubMed
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Articles related to Turcot Syndrome:

(show all 44)
idTitleAuthorsYear
1
A Novel APC Gene Mutation Associated With a Severe Phenotype in a Patient With Turcot Syndrome. (24309598)
2013
2
Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma. (22630573)
2012
3
Turcot syndrome: a case report in an unsuspected setting. (21959784)
2012
4
First case report of turcot syndrome type 1 in Colombia. (23320220)
2012
5
Turcot syndrome type 2: medulloblastoma with multiple colorectal adenomas. (22732270)
2012
6
Turcot syndrome: a synchronous clinical presentation of glioblastoma multiforme and adenocarcinoma of the colon. (23119205)
2012
7
Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases. (20657316)
2010
8
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. (19039682)
2009
9
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. (19156169)
2009
10
Anaplastic oligoastrocytoma in Turcot syndrome. (19495563)
2009
11
Turcot syndrome (glioma polyposis): a case report. (19005436)
2008
12
Malignant transformation of high-grade astrocytoma associated with neurocysticercosis in a patient with Turcot syndrome. (17138070)
2007
13
Turcot syndrome confirmed with molecular analysis. (17389002)
2007
14
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. (16144131)
2005
15
Pinealoblastoma in a patient with familial adenomatous polyposis: variant of Turcot syndrome type 2? Report of a case and review of the literature. (16400511)
2005
16
A homozygous mutation in MSH6 causes Turcot syndrome. (16000562)
2005
17
Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report. (15095965)
2004
18
Molecular basis of the brain tumor-polyposis (Turcot) syndrome. (15018459)
2003
19
Turcot syndrome in an elderly adult. (11907360)
2002
20
Alterations of repeated sequences in 5' upstream and coding regions in colorectal tumors from patients with hereditary nonpolyposis colorectal cancer and Turcot syndrome. (11526511)
2001
21
Ganglioglioma in a patient with Turcot syndrome. Case report. (10616098)
2000
22
The characteristics of congenital hypertrophy of retinal pigment epithelium in Turcot syndrome. (10965256)
2000
23
Turcot syndrome with colonic obstruction and small intestinal invagination: report of a case. (10483758)
1999
24
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome? (10070471)
1998
25
Medulloblastoma and glioblastoma multiforme in a patient with Turcot syndrome: a case report. (9508118)
1998
26
Turcot syndrome: case report and nosological aspects. (9505220)
1997
27
Drastic genetic instability of tumors and normal tissues in Turcot syndrome. (9419979)
1997
28
Ovarian neoplasm and endometrioid carcinoma in a patient with Turcot syndrome. (9252914)
1997
29
Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of the Gardner's and Turcot syndromes. (8638216)
1996
30
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. (8593545)
1995
31
Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. (7515658)
1994
32
The Turcot syndrome (glioma polyposis) and its neurosurgical significance. Case report. (8127448)
1993
33
Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]. (8390092)
1993
34
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. (1322639)
1992
35
Ocular findings in Turcot syndrome (glioma-polyposis). (1850823)
1991
36
Turcot syndrome: report of a case and review of the literature. (2540108)
1989
37
Turcot syndrome. Autosomal dominant or recessive transmission? (3032534)
1987
38
Turcot syndrome (glioma polyposis). Case report. (4056888)
1985
39
Turcot syndrome and its characteristic colonic manifestations. (4006635)
1985
40
Turcot syndrome: a case with spinal cord and colonic neoplasms. (6320614)
1984
41
The Turcot syndrome. Report of an additional case and review of the literature. (6307612)
1983
42
Case of Turcot syndrome: dilemma resolved. (6958881)
1982
43
The Turcot syndrome. Case report. (6277828)
1981
44
The Turcot syndrome. (463440)
1979

Variations for Turcot Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Turcot Syndrome:

65
id Symbol AA change Variation ID SNP ID
1MLH1p.Met35AsnVAR_043388
2PMS2p.Ser46IleVAR_066838

Clinvar genetic disease variations for Turcot Syndrome:

1 (show all 30)
id Gene Name 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)deletionPathogenic, Uncertain significanceGRCh37Chr 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 variantPathogenic, Uncertain significancers267607990GRCh37Chr 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, Pathogenic, Uncertain significancers121434629GRCh37Chr 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

Expression for genes affiliated with Turcot Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Turcot Syndrome

Search GEO for disease gene expression data for Turcot Syndrome.

Pathways for genes affiliated with Turcot Syndrome

About this section
Sources:
51PathCards, 52PharmGKB, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 54QIAGEN, 13EMD Millipore, 55R&D Systems, 61Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Turcot Syndrome according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Catalytic cycle of mammalian FMOs39
9.8MSH2, MLH1
29.6CTNNB1, APC
39.6CTNNB1, APC
49.6APC, PTEN
59.2CTNNB1, TP53
69.2TP53, CTNNB1
7
Show member pathways
9.0TP53, MSH6, MSH2
8
Show member pathways
9.0TP53, MSH6, MSH2
99.0TP53, APC, PMS2
10
Show member pathways
9.0MSH2, TP53, MLH1
118.8CTNNB1, TP53, APC
12
Show member pathways
Wnt Signaling Pathway NetPath39
8.8CTNNB1, TP53, APC
13
Show member pathways
8.8CTNNB1, TP53, APC
148.8APC, TP53, CTNNB1
15
Show member pathways
8.8MLH1, PMS2, PMS1, MSH6, MSH2
168.8PTEN, APC, TP53
178.7MSH2, MSH6, TP53, MLH1
18
Show member pathways
8.7MLH1, TP53, MSH6, MSH2
19
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
8.5PTEN, TP53, MSH6, MSH2
20
Show member pathways
Signaling Pathways in Glioblastoma39
8.4CTNNB1, MSH6, TP53, PTEN
218.3PTEN, APC, TP53, CTNNB1
228.3PTEN, APC, TP53, CTNNB1
23
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
8.3PTEN, APC, TP53, CTNNB1
248.0PTEN, TP53, MSH6, MSH2, CTNNB1
257.9MLH1, APC, TP53, MSH6, MSH2, CTNNB1
267.8MLH1, PMS2, PTEN, APC, TP53, MSH2
27
Show member pathways
Signal transduction PTEN pathway61
7.3CTNNB1, MLH1, PTEN, APC, TP53, MSH6
287.3MLH1, PTEN, APC, TP53, MSH6, MSH2

Compounds for genes affiliated with Turcot Syndrome

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Sources:
46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Turcot Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1methylazoxymethanol acetate4610.0APC, CTNNB1
21-hydroxyanthraquinone4610.0APC, CTNNB1
3samp469.9APC, CTNNB1
4mhs-2469.9PMS1, PMS2, MLH1
5mnng469.8MLH1, APC, MSH2
61,2-dimethylhydrazine469.8CTNNB1, APC
7sodium bisulfite469.7MLH1, APC, CTNNB1
86 thioguanine469.7MLH1, MSH2, GAPDH
9n-methyl-n-nitrosourea469.5MLH1, MSH6, MSH2, CTNNB1
10deoxyribonucleic acid469.4GAPDH, PTEN, MLH1
11temozolomide46 1210.4MLH1, TP53, MSH2
125-methylcytosine46 2510.4MLH1, APC, TP53
13azoxymethane469.3CTNNB1, APC
14adenine46 25 1211.3GAPDH, MSH2, APC, MLH1
15mononucleotide469.1MLH1, PTEN, APC, MSH6, MSH2
16carboplatin46 52 1211.1MLH1, TP53, MSH2
17indole-3-carbinol469.0CTNNB1, TP53, PTEN
18leptomycin b46 6210.0CTNNB1, GAPDH, TP53
19sulindac46 129.9MLH1, APC, TP53, CTNNB1
20thymidylate468.9GAPDH, MSH2, TP53, MLH1
21rapamycin468.8CTNNB1, GAPDH, APC, PTEN
22o6-methylguanine468.8MLH1, APC, TP53, MSH6, MSH2
23nocodazole46 129.7APC, TP53, CTNNB1
24gemcitabine46 52 1210.7GAPDH, TP53, PTEN, MLH1
25threonine468.7MLH1, PTEN, APC, MSH6, CTNNB1
26biotin46 25 1210.7MLH1, PMS2, MSH6, MSH2, GAPDH, CTNNB1
27adpribose468.7CTNNB1, GAPDH, TP53
28paclitaxel46 52 1210.6MLH1, PTEN, TP53, CTNNB1
29pge2468.6CTNNB1, GAPDH, APC, PTEN
30mg 13246 629.5PTEN, TP53, GAPDH, CTNNB1
31arsenite46 259.5PTEN, TP53, GAPDH, CTNNB1
32alanine468.5CTNNB1, GAPDH, MSH2, PTEN, MLH1
33tamoxifen46 52 30 1211.4CTNNB1, GAPDH, TP53, PTEN
34progesterone46 30 62 25 1212.3MLH1, PTEN, APC, TP53, CTNNB1
35ly294002468.3PTEN, TP53, GAPDH, CTNNB1
36arginine468.2MLH1, PTEN, TP53, MSH2, CTNNB1
37h2o2468.2MLH1, PTEN, TP53, GAPDH, CTNNB1
38doxorubicin46 52 1210.1MLH1, PTEN, TP53, MSH6, MSH2, CTNNB1
39cycloheximide468.1PTEN, APC, TP53, GAPDH, CTNNB1
40vegf468.1MLH1, PTEN, TP53, GAPDH, CTNNB1
41oligonucleotide468.1PTEN, APC, TP53, GAPDH, CTNNB1
42atp46 309.1MLH1, PTEN, IARS, MSH2, GAPDH, CTNNB1
435-aza-2deoxycytidine468.0MLH1, PMS1, PTEN, APC, TP53, CTNNB1
445fluorouracil467.9MLH1, PTEN, TP53, MSH2, GAPDH, CTNNB1
45estrogen467.8MLH1, PTEN, APC, TP53, GAPDH, CTNNB1
46retinoic acid46 258.8MLH1, PTEN, APC, TP53, GAPDH, CTNNB1
47cisplatin46 52 62 1210.6MLH1, PTEN, TP53, MSH6, MSH2, GAPDH
48serine467.5PTEN, APC, TP53, MSH6, MSH2, GAPDH
49crcs467.5CTNNB1, MLH1, PMS2, PTEN, APC, TP53
50paraffin467.5MLH1, PMS2, PTEN, APC, TP53, MSH6

GO Terms for genes affiliated with Turcot Syndrome

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17Gene Ontology
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Cellular components related to Turcot Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:03230110.1MSH6, MSH2
2nuclear chromosomeGO:0002289.9MSH6, MSH2
3beta-catenin destruction complexGO:0308779.8CTNNB1, APC
4mismatch repair complexGO:0323009.7PMS1, PMS2, MLH1
5MutLalpha complexGO:0323899.7PMS1, PMS2, MLH1
6cell-cell adherens junctionGO:0059139.6CTNNB1, APC
7lateral plasma membraneGO:0163289.6CTNNB1, APC
8cytoplasmic side of plasma membraneGO:0098989.2CTNNB1, PTEN
9nucleolusGO:0057308.1MLH1, PMS2, PTEN, TP53, MSH6
10cytosolGO:0058297.3PTEN, APC, TP53, IARS, GAPDH, CTNNB1
11cytoplasmGO:0057376.8PMS2, PTEN, APC, TP53, IARS, MSH6
12nucleusGO:0056346.7MLH1, PMS2, PMS1, PTEN, APC, TP53

Biological processes related to Turcot Syndrome according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00071010.2MSH2, MSH6
2maintenance of DNA repeat elementsGO:04357010.1MSH2, MSH6
3positive regulation of helicase activityGO:05109610.1MSH2, MSH6
4negative regulation of DNA recombinationGO:04591010.1MSH6, MSH2
5canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:0443369.9CTNNB1, APC
6somatic recombination of immunoglobulin gene segmentsGO:0164479.9PMS2, MSH6, MSH2
7intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.9MSH6, MLH1
8isotype switchingGO:0451909.9MSH2, MSH6, MLH1
9proximal/distal pattern formationGO:0099549.8CTNNB1, APC
10somatic hypermutation of immunoglobulin genesGO:0164469.6MLH1, PMS2, MSH6, MSH2
11thymus developmentGO:0485389.5CTNNB1, APC
12reciprocal meiotic recombinationGO:0071319.5MLH1, PMS2, PMS1, MSH6
13response to X-rayGO:0101659.5TP53, MSH2
14canonical Wnt signaling pathwayGO:0600709.4PTEN, APC, CTNNB1
15intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:0427719.4TP53, MSH2
16determination of adult lifespanGO:0083409.4MSH2, MSH6, TP53
17cellular component disassembly involved in execution phase of apoptosisGO:0069219.3CTNNB1, APC
18mismatch repairGO:0062989.2MSH2, MSH6, PMS1, PMS2, MLH1
19ATP catabolic processGO:0062009.2MSH2, MSH6, PMS1, PMS2, MLH1
20T cell differentiation in thymusGO:0330779.2APC, TP53, CTNNB1
21cell cycle arrestGO:0070509.2APC, TP53, MSH2
22neuron apoptotic processGO:0514029.1GAPDH, TP53
23response to drugGO:0424939.1PMS2, PMS1, PTEN, CTNNB1
24in utero embryonic developmentGO:0017019.0CTNNB1, MSH2, TP53
25positive regulation of apoptotic processGO:0430658.6CTNNB1, TP53, APC, PTEN
26negative regulation of cell proliferationGO:0082858.5CTNNB1, TP53, APC, PTEN
27apoptotic processGO:0069158.5PTEN, APC, TP53, CTNNB1

Molecular functions related to Turcot Syndrome according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:03214310.1MSH2, MSH6
2oxidized purine DNA bindingGO:03235710.1MSH6, MSH2
3single guanine insertion bindingGO:03214210.1MSH6, MSH2
4MutLalpha complex bindingGO:03240510.0MSH2, MSH6
5four-way junction DNA bindingGO:00040010.0MSH6, MSH2
6guanine/thymine mispair bindingGO:0321379.8MSH2, MSH6, MLH1
7MutSalpha complex bindingGO:0324079.8MLH1, PMS2, PMS1
8ADP bindingGO:0435319.7MSH2, MSH6
9mismatched DNA bindingGO:0309839.7PMS1, MSH6, MSH2
10cadherin bindingGO:0452969.6APC, CTNNB1
11DNA-dependent ATPase activityGO:0080949.5MSH2, MSH6
12double-stranded DNA bindingGO:0036909.5CTNNB1, MSH2, MSH6
13single-stranded DNA bindingGO:0036979.4MSH2, PMS1, PMS2, MLH1
14magnesium ion bindingGO:0002879.4MSH2, MSH6, PTEN
15ATPase activityGO:0168879.2MSH2, MSH6, PMS1, PMS2, MLH1
16chromatin bindingGO:0036828.9CTNNB1, MSH6, TP53
17enzyme bindingGO:0198998.5CTNNB1, MSH2, TP53, PTEN
18protein kinase bindingGO:0199018.2CTNNB1, MSH2, TP53, APC, PTEN
19ATP bindingGO:0055247.7MLH1, PMS2, PMS1, TP53, IARS, MSH6
20protein bindingGO:0055156.2MLH1, PMS2, PTEN, APC, TP53, IARS

Products for genes affiliated with Turcot Syndrome

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  • Proteins
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Sources for Turcot Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet