MMRCS
MCID: TRC032
MIFTS: 75

Turcot Syndrome (MMRCS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Cancer diseases categories
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Summaries for Turcot Syndrome

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NIH Rare Diseases:42 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 based summary: Turcot Syndrome, also known as mismatch repair cancer syndrome, is related to lynch syndrome and gardner syndrome, and has symptoms including acute abdominal pain/colic, intestinal transit disorder and malabsorption/chronic diarrhea/steatorrhea. 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 bone, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Wikipedia:65 Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch... more...

Description from OMIM:46 276300

Aliases & Classifications for Turcot Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Turcot Syndrome, Aliases & Descriptions:

Name: Turcot Syndrome 42 20 22 44 62
Mismatch Repair Cancer Syndrome 42 46 62
Constitutional Mismatch Repair Deficiency Syndrome 48 62
Cns Tumors with Familial Polyposis of the Colon 42 62
Mismatch Repair Deficiency 42 62
Mmr Deficiency 42 62
 
Mmrcs 42 62
Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon 42
Brain Tumor-Polyposis Syndrome 42
Non-Polyposis Turcot Syndrome 48
Glioma-Polyposis Syndrome 42
Cmmr-D Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 276300
ICD10 via Orphanet26 C18

Related Diseases for Turcot Syndrome

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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 92)
idRelated DiseaseScoreTop Affiliating Genes
1lynch syndrome30.9PMS2, MLH1, MSH6, MSH2
2gardner syndrome30.6APC, CTNNB1
3neurofibromatosis30.6PMS2, MLH1, MSH6, MSH2
4muir-torre syndrome30.4MLH1, MSH6, MSH2
5medulloblastoma30.3CTNNB1, APC, TP53
6malignant glioma30.2TP53, PTEN, MSH2
7glioblastoma multiforme30.1PTEN, MSH2, TP53
8familial colorectal cancer30.0MSH2, MSH6, MLH1, APC, PTEN
9endometrial carcinoma30.0MLH1, CTNNB1, PTEN, TP53
10glioblastoma29.8MLH1, PMS2, PTEN, TP53, GAPDH
11astrocytoma29.8GAPDH, MSH2, TP53, PTEN, MLH1
12familial adenomatous polyposis29.5MSH6, TP53, APC, PMS1, PMS2, MLH1
13ovarian cancer29.5MLH1, PMS2, CTNNB1, MSH2, MSH6, PTEN
14adenoma28.8MSH2, MLH1, GAPDH, TP53, MSH6, CTNNB1
15colorectal cancer28.6CTNNB1, MSH2, MSH6, TP53, APC, PTEN
16prostate cancer28.6PMS2, APC, PMS1, PTEN, TP53, MSH6
17adenocarcinoma28.5MSH2, PMS2, PTEN, TP53, MLH1, GAPDH
18brain tumor-polyposis syndrome 210.5
19gemistocytic astrocytoma10.4PTEN
20leukemia10.4
21gliomatosis cerebri10.4PTEN
22giant cell glioblastoma10.4PTEN
23small intestine cancer10.4MLH1, MSH6
24gliosarcoma10.4PTEN
25gastric cancer10.3
26germ cell tumors10.3
27juvenile polyposis syndrome10.3APC, PTEN
28intestinal neoplasm10.3APC, CTNNB1
29hepatocellular adenoma10.3CTNNB1, APC
30desmoid tumor10.3APC, CTNNB1
31colorectal cancer, somatic10.3CTNNB1, APC
32fibromatosis10.3CTNNB1, APC
33keratoacanthoma10.2MLH1, MSH2
34glioma somatic10.2
35mlh1-related turcot syndrome10.2
36msh2-related turcot syndrome10.2
37msh6-related turcot syndrome10.2
38pms2-related turcot syndrome10.2
39thyroid adenoma10.2PTEN, APC
40colon adenoma10.2
41colorectal adenocarcinoma10.2
42achondroplasia10.2
43gastric lymphoma10.2
44childhood leukemia10.2
45colon adenocarcinoma10.2
46prostatitis10.2
47rhabdomyosarcoma10.2
48optic pathway glioma10.2
49testicular germ cell tumor10.2
50gastric adenocarcinoma10.2MLH1, CTNNB1, APC

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



Diseases related to turcot syndrome

Symptoms for Turcot Syndrome

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Symptoms by clinical synopsis from OMIM:

276300

Clinical features from OMIM:

276300

Symptoms:

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

HPO human phenotypes related to Turcot Syndrome:

(show all 52)
id Description Frequency HPO Source Accession
1 weight loss hallmark (90%) HP:0001824
2 constipation hallmark (90%) HP:0002019
3 malabsorption hallmark (90%) HP:0002024
4 abdominal pain hallmark (90%) HP:0002027
5 gastrointestinal hemorrhage hallmark (90%) HP:0002239
6 glioma hallmark (90%) HP:0009733
7 neoplasm of the colon hallmark (90%) HP:0100273
8 seizures typical (50%) HP:0001250
9 muscular hypotonia typical (50%) HP:0001252
10 hypertonia typical (50%) HP:0001276
11 nausea and vomiting typical (50%) HP:0002017
12 migraine typical (50%) HP:0002076
13 increased intracranial pressure typical (50%) HP:0002516
14 attention deficit hyperactivity disorder typical (50%) HP:0007018
15 neoplasm of the rectum typical (50%) HP:0100743
16 hallucinations occasional (7.5%) HP:0000738
17 visual field defect occasional (7.5%) HP:0001123
18 gait disturbance occasional (7.5%) HP:0001288
19 flexion contracture occasional (7.5%) HP:0001371
20 neurological speech impairment occasional (7.5%) HP:0002167
21 memory impairment occasional (7.5%) HP:0002354
22 developmental regression occasional (7.5%) HP:0002376
23 neoplasm of the pancreas occasional (7.5%) HP:0002894
24 neoplasm of the liver occasional (7.5%) HP:0002896
25 neuroblastoma occasional (7.5%) HP:0003006
26 paresthesia occasional (7.5%) HP:0003401
27 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
28 neoplasm of the skin occasional (7.5%) HP:0008069
29 agnosia occasional (7.5%) HP:0010524
30 neoplasm of the skeletal system occasional (7.5%) HP:0010622
31 uterine neoplasm occasional (7.5%) HP:0010784
32 urinary tract neoplasm occasional (7.5%) HP:0010786
33 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
34 sarcoma occasional (7.5%) HP:0100242
35 amaurosis fugax occasional (7.5%) HP:0100576
36 ovarian neoplasm occasional (7.5%) HP:0100615
37 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835
38 intestinal polyposis occasional (7.5%) HP:0200008
39 agenesis of corpus callosum rare (5%) HP:0001274
40 autosomal recessive inheritance HP:0000007
41 cafe-au-lait spot HP:0000957
42 axillary freckling HP:0000997
43 hypermelanotic macule HP:0001034
44 abnormality of the abdomen HP:0001438
45 leukemia HP:0001909
46 lymphoma HP:0002665
47 basal cell carcinoma HP:0002671
48 rhabdomyosarcoma HP:0002859
49 medulloblastoma HP:0002885
50 ependymoma HP:0002888
51 neuroblastoma HP:0003006
52 glioblastoma HP:0100843

Drugs & Therapeutics for Turcot Syndrome

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Drug clinical trials:

Search ClinicalTrials for Turcot Syndrome

Search NIH Clinical Center for Turcot Syndrome

Genetic Tests for Turcot Syndrome

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Genetic tests related to Turcot Syndrome:

id Genetic test Affiliating Genes
1 Turcot Syndrome20 22 PMS2

Anatomical Context for Turcot Syndrome

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MalaCards organs/tissues related to Turcot Syndrome:

32
Colon, Brain, Bone, Liver, Pancreas, Thyroid, Skin, Ovary, Uterus, Cervix, Pituitary, Spinal cord, Small intestine

Animal Models for Turcot Syndrome or affiliated genes

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Publications for Turcot Syndrome

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Articles related to Turcot Syndrome:

(show all 45)
idTitleAuthorsYear
1
A potential life-saving diagnosis--recognizing Turcot syndrome. (24698620)
2014
2
A Novel APC Gene Mutation Associated With a Severe Phenotype in a Patient With Turcot Syndrome. (24309598)
2013
3
Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma. (22630573)
2012
4
Turcot syndrome: a case report in an unsuspected setting. (21959784)
2012
5
First case report of turcot syndrome type 1 in Colombia. (23320220)
2012
6
Turcot syndrome type 2: medulloblastoma with multiple colorectal adenomas. (22732270)
2012
7
Turcot syndrome: a synchronous clinical presentation of glioblastoma multiforme and adenocarcinoma of the colon. (23119205)
2012
8
Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases. (20657316)
2010
9
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. (19039682)
2009
10
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. (19156169)
2009
11
Anaplastic oligoastrocytoma in Turcot syndrome. (19495563)
2009
12
Turcot syndrome (glioma polyposis): a case report. (19005436)
2008
13
Malignant transformation of high-grade astrocytoma associated with neurocysticercosis in a patient with Turcot syndrome. (17138070)
2007
14
Turcot syndrome confirmed with molecular analysis. (17389002)
2007
15
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. (16144131)
2005
16
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
17
A homozygous mutation in MSH6 causes Turcot syndrome. (16000562)
2005
18
Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report. (15095965)
2004
19
Molecular basis of the brain tumor-polyposis (Turcot) syndrome. (15018459)
2003
20
Turcot syndrome in an elderly adult. (11907360)
2002
21
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
22
Ganglioglioma in a patient with Turcot syndrome. Case report. (10616098)
2000
23
The characteristics of congenital hypertrophy of retinal pigment epithelium in Turcot syndrome. (10965256)
2000
24
Turcot syndrome with colonic obstruction and small intestinal invagination: report of a case. (10483758)
1999
25
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome? (10070471)
1998
26
Medulloblastoma and glioblastoma multiforme in a patient with Turcot syndrome: a case report. (9508118)
1998
27
Turcot syndrome: case report and nosological aspects. (9505220)
1997
28
Drastic genetic instability of tumors and normal tissues in Turcot syndrome. (9419979)
1997
29
Ovarian neoplasm and endometrioid carcinoma in a patient with Turcot syndrome. (9252914)
1997
30
Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of the Gardner's and Turcot syndromes. (8638216)
1996
31
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. (8593545)
1995
32
Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. (7515658)
1994
33
The Turcot syndrome (glioma polyposis) and its neurosurgical significance. Case report. (8127448)
1993
34
Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]. (8390092)
1993
35
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. (1322639)
1992
36
Ocular findings in Turcot syndrome (glioma-polyposis). (1850823)
1991
37
Turcot syndrome: report of a case and review of the literature. (2540108)
1989
38
Turcot syndrome. Autosomal dominant or recessive transmission? (3032534)
1987
39
Turcot syndrome (glioma polyposis). Case report. (4056888)
1985
40
Turcot syndrome and its characteristic colonic manifestations. (4006635)
1985
41
Turcot syndrome: a case with spinal cord and colonic neoplasms. (6320614)
1984
42
The Turcot syndrome. Report of an additional case and review of the literature. (6307612)
1983
43
Case of Turcot syndrome: dilemma resolved. (6958881)
1982
44
The Turcot syndrome. Case report. (6277828)
1981
45
The Turcot syndrome. (463440)
1979

Variations for Turcot Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Turcot Syndrome:

64
id Symbol AA change Variation ID SNP ID
1MLH1p.Met35AsnVAR_043388
2PMS2p.Ser46IleVAR_066838

Clinvar genetic disease variations for Turcot Syndrome:

6 (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)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

Expression for genes affiliated with Turcot Syndrome

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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

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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 FMOs37
9.8MSH2, MLH1
29.6CTNNB1, APC
39.6CTNNB1, APC
49.6APC, PTEN
59.2TP53, CTNNB1
69.2CTNNB1, TP53
7
Show member pathways
9.0MSH2, MSH6, TP53
8
Show member pathways
9.0MSH2, MSH6, TP53
99.0PMS2, APC, TP53
10
Show member pathways
9.0MSH2, TP53, MLH1
11
Show member pathways
8.8CTNNB1, TP53, APC
128.8CTNNB1, TP53, APC
138.8CTNNB1, APC, TP53
14
Show member pathways
Wnt Signaling Pathway NetPath37
8.8APC, TP53, CTNNB1
15
Show member pathways
8.8PMS2, MSH6, MSH2, MLH1, PMS1
168.8APC, PTEN, TP53
178.7TP53, MSH2, MLH1, MSH6
18
Show member pathways
8.7MLH1, TP53, MSH2, MSH6
19
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
8.5PTEN, TP53, MSH2, MSH6
20
Show member pathways
Signaling Pathways in Glioblastoma37
8.4PTEN, CTNNB1, TP53, MSH6
21
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
8.3TP53, CTNNB1, PTEN, APC
228.3CTNNB1, TP53, APC, PTEN
238.3APC, TP53, CTNNB1, PTEN
248.0PTEN, MSH2, MSH6, TP53, CTNNB1
257.9MSH2, MSH6, APC, CTNNB1, TP53, MLH1
267.8TP53, PTEN, APC, PMS2, MSH2, MLH1
277.3CTNNB1, MSH2, MSH6, TP53, APC, MLH1
28
Show member pathways
Signal transduction PTEN pathway60
7.3MLH1, MSH2, CTNNB1, TP53, APC, PTEN

Compounds for genes affiliated with Turcot Syndrome

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Compounds related to Turcot Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1methylazoxymethanol acetate4410.0APC, CTNNB1
21-hydroxyanthraquinone4410.0CTNNB1, APC
3samp449.9CTNNB1, APC
4mhs-2449.9PMS2, PMS1, MLH1
5mnng449.8APC, MSH2, MLH1
61,2-dimethylhydrazine449.8CTNNB1, APC
7sodium bisulfite449.7CTNNB1, APC, MLH1
86 thioguanine449.7MLH1, GAPDH, MSH2
9n-methyl-n-nitrosourea449.5MSH6, MLH1, MSH2, CTNNB1
10deoxyribonucleic acid449.4PTEN, MLH1, GAPDH
11temozolomide44 1110.4TP53, MSH2, MLH1
125-methylcytosine44 2410.4APC, MLH1, TP53
13azoxymethane449.3APC, CTNNB1
14adenine44 24 1111.3MLH1, MSH2, GAPDH, APC
15mononucleotide449.1PTEN, APC, MSH6, MSH2, MLH1
16carboplatin44 50 1111.1MSH2, TP53, MLH1
17indole-3-carbinol449.0PTEN, TP53, CTNNB1
18leptomycin b44 6110.0GAPDH, CTNNB1, TP53
19sulindac44 119.9APC, MLH1, CTNNB1, TP53
20thymidylate448.9GAPDH, MSH2, TP53, MLH1
21rapamycin448.8APC, PTEN, GAPDH, CTNNB1
22o6-methylguanine448.8APC, MLH1, MSH2, TP53, MSH6
23nocodazole44 119.7TP53, CTNNB1, APC
24gemcitabine44 50 1110.7PTEN, TP53, MLH1, GAPDH
25threonine448.7APC, MSH6, PTEN, MLH1, CTNNB1
26biotin44 24 1110.7PMS2, CTNNB1, GAPDH, MSH2, MLH1, MSH6
27adpribose448.7GAPDH, CTNNB1, TP53
28paclitaxel44 50 1110.6PTEN, CTNNB1, TP53, MLH1
29pge2448.6GAPDH, APC, CTNNB1, PTEN
30mg 13244 619.5CTNNB1, GAPDH, TP53, PTEN
31arsenite44 249.5PTEN, TP53, GAPDH, CTNNB1
32alanine448.5GAPDH, MLH1, PTEN, CTNNB1, MSH2
33tamoxifen44 50 28 1111.4PTEN, GAPDH, CTNNB1, TP53
34progesterone44 28 61 24 1112.3TP53, MLH1, PTEN, CTNNB1, APC
35ly294002448.3PTEN, GAPDH, TP53, CTNNB1
36arginine448.2TP53, MLH1, PTEN, MSH2, CTNNB1
37h2o2448.2PTEN, GAPDH, CTNNB1, TP53, MLH1
38cycloheximide448.1APC, PTEN, TP53, GAPDH, CTNNB1
39doxorubicin44 50 1110.1TP53, MSH6, PTEN, MLH1, CTNNB1, MSH2
40vegf448.1MLH1, PTEN, TP53, GAPDH, CTNNB1
41oligonucleotide448.1CTNNB1, GAPDH, TP53, APC, PTEN
42atp44 289.1CTNNB1, MLH1, PTEN, GAPDH, MSH2, IARS
435-aza-2deoxycytidine448.0CTNNB1, APC, MLH1, PMS1, PTEN, TP53
445fluorouracil447.9TP53, MLH1, PTEN, CTNNB1, GAPDH, MSH2
45estrogen447.8MLH1, APC, TP53, GAPDH, CTNNB1, PTEN
46retinoic acid44 248.8PTEN, APC, TP53, GAPDH, CTNNB1, MLH1
47cisplatin44 50 61 1110.6CTNNB1, MLH1, PTEN, MSH6, TP53, MSH2
48serine447.5CTNNB1, GAPDH, MSH2, MSH6, APC, TP53
49crcs447.5APC, PTEN, MLH1, TP53, MSH6, PMS2
50paraffin447.5PMS2, MLH1, PTEN, APC, TP53, MSH6

GO Terms for genes affiliated with Turcot Syndrome

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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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  • Antibodies
  • Proteins
  • Lysates

Sources for Turcot Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet