MCID: TRC032
MIFTS: 66

Turcot Syndrome malady

Neuronal, Gastrointestinal, Reproductive, Cancer, Genetic categories

Summaries for Turcot Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 familial adenomatous polyposis and adenoma, and has symptoms including autosomal recessive inheritance, nausea/vomiting/regurgitation/merycism/hyperemesis and motor deficit/trouble. An important gene associated with Turcot Syndrome is PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae)), and among its related pathways are Glioma and Doxorubicin Pathway, Pharmacokinetics. The compounds pge2 and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and small intestine, and related mouse phenotypes are renal/urinary system and limbs/digits/tail.

Wikipedia:64 Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch... more...

Description from OMIM:47 276300

Aliases & Classifications for Turcot Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 61UMLS, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Neuronal, Gastrointestinal, Reproductive


Characteristics (Orphanet epidemiological data):

49
constitutional mismatch repair deficiency syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

turcot syndrome 43 20 22 45 61
mismatch repair cancer syndrome 43 47
malignant tumors of the central nervous system associated with familial polyposis of the colon 43
constitutional mismatch repair deficiency syndrome 49
cns tumors with familial polyposis of the colon 43
brain tumor-polyposis syndrome 43
non-polyposis turcot syndrome 49
glioma-polyposis syndrome 43
cmmr-d syndrome 49


External Ids:

OMIM47 276300
ICD10 via Orphanet26 C18

Related Diseases for Turcot Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1familial adenomatous polyposis30.6CTNNB1, APC, PMS2, PMS1, MLH1, TGFBR2
2adenoma30.5CTNNB1, APC, PMS2, GAPDH, MLH1, TGFBR2
3neurofibromatosis30.5MSH2, MSH6, MLH1, PMS2
4astrocytoma30.4GAPDH, MLH1, MSH2, PTEN, TP53
5gardner syndrome30.2APC, CTNNB1
6giant cell glioblastoma30.0PTEN
7muir-torre syndrome30.0MSH2, MSH6, MLH1
8adenocarcinoma29.9PMS2, APC, CTNNB1, GAPDH, MLH1, BAX
9colorectal cancer29.9CTNNB1, APC, PMS2, PMS1, GAPDH, MLH1
10n syndrome10.5
11brain tumor-polyposis syndrome 210.4
12rh deficiency syndrome10.3
13optic pathway glioma10.3
14glioma somatic10.2
15brain disease10.2
16char syndrome10.2
17mlh1-related turcot syndrome10.2
18msh2-related turcot syndrome10.2
19msh6-related turcot syndrome10.2
20pms2-related turcot syndrome10.2
21ovarian endometrioid neoplasm10.0
22ganglioglioma10.0
23adult syndrome10.0
24micro syndrome10.0
25attenuated familial adenomatous polyposis10.0
26anaplastic oligoastrocytoma10.0
27oligoastrocytoma10.0
28adenomas, multiple colorectal10.0
29fanconi's anemia10.0MLH1
30werner syndrome10.0MLH1
31endometriosis10.0PTEN
32cervical squamous cell carcinoma10.0MLH1
33neuroblastoma10.0TP53
34hepatitis b10.0IGF2R
35gemistocytic astrocytoma10.0PTEN
36rhabdomyosarcoma10.0TP53
37hepatitis10.0IGF2R
38kidney cancer10.0TP53
39leiomyosarcoma10.0TP53
40stomach cancer10.0TP53
41cholangiocarcinoma10.0TP53
42ductal carcinoma in situ10.0TP53
43laryngeal carcinoma10.0TP53
44myeloid leukemia10.0BAX
45small intestine cancer10.0MLH1, MSH6
46ulcerative colitis10.0TP53
47herpes simplex10.0IGF2R
48wilms tumor10.0PMS2, CTNNB1
49beckwith-wiedemann syndrome10.0IGF2R
50hepatoblastoma10.0CTNNB1, APC

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



Diseases related to turcot syndrome

Clinical Features for Turcot Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

276300

Clinical synopsis from OMIM:

276300

Symptoms:

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

Drugs & Therapeutics for Turcot Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Turcot Syndrome:

id Genetic test Affiliating Genes
1 Turcot Syndrome20 22 PMS2

Anatomical Context for Turcot Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Turcot Syndrome:

33
Spinal cord, Brain, Small intestine, Colon, Pituitary

Animal Models for Turcot Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Turcot Syndrome:

37 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.4APC
2MP:000537110.2IGF2R
3MP:00053919.9APC
4MP:00053769.3PMS2, GAPDH, IGF2R, MSH6
5MP:00053799.2TP53, BAX, MLH1, PMS2
6MP:00036319.0APC, IGF2R, BAX, PTCH2
7MP:00107718.8APC, CTNNB1, PTEN, PTCH2, TP53
8MP:00053698.5TGFBR2, TP53, PTCH2, BAX, APC
9MP:00053828.1APC, CTNNB1, IGF2R, PTEN, TP53, TGFBR2
10MP:00053898.1APC, CTNNB1, MLH1, BAX, PTEN, PTCH2
11MP:00053707.8TGFBR2, TP53, PTEN, IGF2R, GAPDH, CTNNB1
12MP:00053817.7PMS2, APC, CTNNB1, MLH1, MSH2, PTEN
13MP:00053887.7TGFBR2, TP53, PTEN, BAX, IGF2R, CTNNB1
14MP:00028737.7APC, CTNNB1, IGF2R, PTEN, PTCH2, TP53
15MP:00053907.6APC, CTNNB1, IGF2R, BAX, PTEN, TP53
16MP:00053877.3PMS2, APC, CTNNB1, BAX, MSH2, PTEN
17MP:00053857.3APC, CTNNB1, GAPDH, IGF2R, PTEN, PTCH2
18MP:00020067.2TGFBR2, PMS1, PMS2, APC, CTNNB1, MLH1
19MP:00053787.0TGFBR2, TP53, PTEN, BAX, IGF2R, GAPDH
20MP:00053846.8PMS2, APC, CTNNB1, MLH1, IGF2R, BAX
21MP:00053976.5GAPDH, CTNNB1, APC, PMS2, IGF2R, BAX
22MP:00107686.3PMS2, APC, CTNNB1, GAPDH, MLH1, IGF2R

Publications for Turcot Syndrome

Sources:
51PubMed
See all sources

Articles related to Turcot Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Turcot's syndrome associated with intestinal non-Hodgkin's lymphoma: case report and review of literature. (22676959)
2013
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
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
Anaplastic oligoastrocytoma in Turcot syndrome. (19495563)
2009
10
Turcot syndrome (glioma polyposis): a case report. (19005436)
2008
11
Malignant transformation of high-grade astrocytoma associated with neurocysticercosis in a patient with Turcot syndrome. (17138070)
2007
12
Turcot syndrome confirmed with molecular analysis. (17389002)
2007
13
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. (16144131)
2005
14
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
15
A homozygous mutation in MSH6 causes Turcot syndrome. (16000562)
2005
16
Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report. (15095965)
2004
17
Molecular basis of the brain tumor-polyposis (Turcot) syndrome. (15018459)
2003
18
Turcot syndrome in an elderly adult. (11907360)
2002
19
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
20
Ganglioglioma in a patient with Turcot syndrome. Case report. (10616098)
2000
21
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. (10763829)
2000
22
The characteristics of congenital hypertrophy of retinal pigment epithelium in Turcot syndrome. (10965256)
2000
23
Coexistence of intracranial arteriovenous malformation with Turcot's syndrome: a case report. (10555847)
1999
24
Turcot syndrome with colonic obstruction and small intestinal invagination: report of a case. (10483758)
1999
25
Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome. (10337989)
1999
26
Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome. (10397462)
1998
27
Case report: an inherited APC mutation in the first reported Australian case of Turcot's syndrome. (9641305)
1998
28
Genetic alterations in a patient with Turcot's syndrome. (9589476)
1998
29
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome? (10070471)
1998
30
Medulloblastoma and glioblastoma multiforme in a patient with Turcot syndrome: a case report. (9508118)
1998
31
Turcot syndrome: case report and nosological aspects. (9505220)
1997
32
Drastic genetic instability of tumors and normal tissues in Turcot syndrome. (9419979)
1997
33
Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of the Gardner's and Turcot syndromes. (8638216)
1996
34
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. (8593545)
1995
35
The APC gene in Turcot's syndrome. (7662026)
1995
36
Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. (7515658)
1994
37
Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene. (8439970)
1993
38
The Turcot syndrome (glioma polyposis) and its neurosurgical significance. Case report. (8127448)
1993
39
Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]. (8390092)
1993
40
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. (1322639)
1992
41
Ocular findings in Turcot syndrome (glioma-polyposis). (1850823)
1991
42
Turcot syndrome: report of a case and review of the literature. (2540108)
1989
43
Turcot syndrome. Autosomal dominant or recessive transmission? (3032534)
1987
44
Turcot syndrome (glioma polyposis). Case report. (4056888)
1985
45
Turcot syndrome and its characteristic colonic manifestations. (4006635)
1985
46
Turcot syndrome: a case with spinal cord and colonic neoplasms. (6320614)
1984
47
The Turcot syndrome. Report of an additional case and review of the literature. (6307612)
1983
48
Case of Turcot syndrome: dilemma resolved. (6958881)
1982
49
The Turcot syndrome. Case report. (6277828)
1981
50
The Turcot syndrome. (463440)
1979

Genetic Variations for Turcot Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Turcot Syndrome:

63
id Symbol AA change Variation SNP ID
1MLH1p.Met35AsnVAR_043388
2PMS2p.Glu705LysVAR_012974
3PMS2p.Ser46IleVAR_066838

Expression for genes affiliated with Turcot Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 50PharmGKB, 4Cell Signaling Technology, 54Reactome, 52QIAGEN, 12EMD Millipore, 53R&D Systems, 60Tocris Bioscience
See all sources

Pathways related to Turcot Syndrome according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6MSH6, TP53
2
Hide members
9.6MSH2, TP53
39.5APC, CTNNB1, PTCH2
4
Hide members
9.4MSH2, PMS1, MLH1, PMS2
5
Transcription Androgen Receptor nuclear signaling
Hide members
9.4CTNNB1, PTEN, TGFBR2
69.3BAX, TP53
79.3MSH2, TP53, MSH6
8
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
9.1TP53, MSH2, MSH6, MLH1
99.1PTEN, TP53, IGF2R
109.0BAX, MSH6, TGFBR2, APC
11
Hide members
9.0PTEN, BAX, TP53
12
Hide members
9.0TP53, PTEN, BAX
138.9PTEN, APC, CTNNB1, TP53
14
Hide members
8.9PTCH2, APC, CTNNB1, TP53
158.8APC, PMS2, BAX, TP53
168.8TP53, GAPDH, BAX
17
Hide members
8.8CTNNB1, IGF2R, BAX, TGFBR2
18
Hide members
8.5BAX, MSH6, MSH2, TP53, PTEN
19
Hide members
8.4BAX, PTEN, IGF2R, TGFBR2, CTNNB1
20
Hide members
8.4PTEN, TP53, BAX, APC, CTNNB1
21
Hide members
8.4PTEN, APC, TP53, CTNNB1, BAX
228.4BAX, PTEN, TP53, CTNNB1, APC
238.3TGFBR2, TP53, APC, CTNNB1, BAX
248.0PTEN, TP53, BAX, MLH1, APC, PMS2
257.7MSH6, CTNNB1, BAX, MSH2, PTEN, TP53
26
Hide members
7.6MLH1, PTEN, MSH2, MSH6, TP53, BAX
27
Hide members
7.1APC, CTNNB1, IGF2R, BAX, TGFBR2, TP53
286.8PTEN, TGFBR2, TP53, PTCH2, MSH2, MSH6

Compounds for genes affiliated with Turcot Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 29IUPHAR
See all sources

Compounds related to Turcot Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
1pge24510.2PTEN
2methylazoxymethanol acetate4510.2APC, CTNNB1
31-hydroxyanthraquinone4510.2APC, CTNNB1
4mhs-24510.1PMS2, PMS1, MLH1
5guanine45 11 2412.0IGF2R
6mnng4510.0MSH2, MLH1, APC
7sodium bisulfite4510.0CTNNB1, APC, MLH1
8serine459.8IGF2R, MSH2, APC
9n-methyl-n-nitrosourea459.8CTNNB1, MLH1, MSH6, MSH2
106 thioguanine459.8MSH2, GAPDH, MLH1
11samp459.8CTNNB1, APC
12exisulind459.7CTNNB1, BAX, APC
135-methylcytosine45 2410.7TP53, MLH1, APC
14temozolomide45 1110.6MLH1, MSH2, TP53
15bbr3464459.6TP53, BAX
16h2o2459.6CTNNB1, GAPDH, PTEN
17ly294002459.5CTNNB1, GAPDH, BAX
18eb 108945 6010.4BAX, PTEN, TGFBR2
19o6-methylguanine459.2MLH1, MSH6, MSH2, APC, TP53
20noxa459.2TP53, BAX, PTEN
21adenine45 11 2411.1APC, GAPDH, MLH1, MSH2, TGFBR2
22indole-3-carbinol459.1BAX, PTEN, TP53, CTNNB1
23glycerol45 11 2411.0MLH1, TGFBR2, CTNNB1, GAPDH
24agarose459.0GAPDH, TGFBR2, BAX, MLH1
25sulindac45 119.9TP53, MLH1, CTNNB1, APC, BAX
26curcumin458.9CTNNB1, TP53, APC, BAX
27arsenite45 249.8GAPDH, TP53, PTEN, BAX
28adpribose458.8BAX, GAPDH, CTNNB1, TP53
29paclitaxel45 50 1110.7BAX, CTNNB1, TP53, PTEN, MLH1
30thymidylate458.7MLH1, TP53, GAPDH, MSH2, BAX
31biotin45 11 2410.7MSH2, PMS2, MSH6, TGFBR2, CTNNB1, GAPDH
32gemcitabine45 50 1110.6BAX, GAPDH, MLH1, PTEN, TP53
33n-(4-hydroxyphenyl)retinamide458.6TGFBR2, BAX, TP53
34mg 13245 609.5CTNNB1, GAPDH, TP53, PTEN, BAX
35threonine458.5APC, PTEN, TGFBR2, MSH6, IGF2R, MLH1
36wortmannin458.5PTEN, TGFBR2, APC, CTNNB1, IGF2R, BAX
37alanine458.4GAPDH, CTNNB1, MSH2, PTEN, MLH1, TGFBR2
38arginine458.4TP53, PTEN, CTNNB1, MSH2, MLH1, IGF2R
395-aza-2deoxycytidine458.4TP53, PTEN, TGFBR2, MLH1, CTNNB1, PMS1
40doxorubicin45 50 1110.3MSH2, TP53, PTEN, MSH6, BAX, MLH1
41oligonucleotide458.2TP53, TGFBR2, PTEN, CTNNB1, APC, GAPDH
42progesterone45 60 29 11 2412.2TP53, TGFBR2, IGF2R, PTEN, APC, CTNNB1
43mononucleotide458.1TGFBR2, PTEN, MSH2, MSH6, BAX, IGF2R
44tamoxifen45 50 29 1111.1CTNNB1, TGFBR2, TP53, PTEN, GAPDH, BAX
455fluorouracil458.1MSH2, PTEN, TP53, MLH1, GAPDH, CTNNB1
46crcs457.9TGFBR2, TP53, PTEN, MSH6, CTNNB1, MLH1
47paraffin457.8PMS2, MSH6, TP53, CTNNB1, APC, MLH1
48cisplatin45 50 60 1110.8MSH6, MSH2, MLH1, GAPDH, CTNNB1, PTEN
49vegf457.5TGFBR2, CTNNB1, GAPDH, MLH1, IGF2R, BAX
50retinoic acid45 248.2TP53, PTEN, TGFBR2, BAX, IGF2R, MLH1

GO Terms for genes affiliated with Turcot Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Turcot Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:03230110.0MSH2, MSH6
2MutLalpha complexGO:0323899.8PMS1, MLH1, PMS2
3mismatch repair complexGO:0323009.8MLH1, PMS2, PMS1
4beta-catenin destruction complexGO:0308779.6CTNNB1, APC
5cytosolGO:0058296.5APC, CTNNB1, GAPDH, IARS, BAX, PTEN
6nucleusGO:0056346.3PTEN, BAX, IARS, MLH1, GAPDH, CTNNB1

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00071010.2MSH2, MSH6
2positive regulation of helicase activityGO:05109610.2MSH6, MSH2
3maintenance of DNA repeat elementsGO:04357010.2MSH6, MSH2
4negative regulation of DNA recombinationGO:04591010.2MSH6, MSH2
5somatic recombination of immunoglobulin gene segmentsGO:01644710.1MSH2, MSH6, PMS2
6trachea formationGO:06044010.0TGFBR2, CTNNB1
7isotype switchingGO:04519010.0MLH1, MSH6, MSH2
8somatic hypermutation of immunoglobulin genesGO:0164469.8PMS2, MLH1, MSH6, MSH2
9reciprocal meiotic recombinationGO:0071319.8PMS1, PMS2, MLH1, MSH6
10ATP catabolic processGO:0062009.8MSH6, MLH1, PMS2, PMS1
11canonical Wnt receptor signaling pathwayGO:0600709.7PTEN, CTNNB1, APC
12determination of adult lifespanGO:0083409.7MSH6, MSH2, TP53
13response to X-rayGO:0101659.6TP53, MSH2
14T cell differentiation in thymusGO:0330779.6APC, CTNNB1, TP53
15mismatch repairGO:0062989.5MSH2, MSH6, MLH1, PMS2, PMS1
16positive regulation of protein oligomerizationGO:0324619.4BAX, TP53
17intrinsic apoptotic signaling pathwayGO:0971939.3BAX, MSH6, TP53
18response to salt stressGO:0096519.3TP53, BAX
19neuron apoptotic processGO:0514029.1GAPDH, BAX, TP53
20in utero embryonic developmentGO:0017019.1TGFBR2, TP53, MSH2, CTNNB1
21cell cycle arrestGO:0070509.0TP53, MSH2, APC
22positive regulation of apoptotic processGO:0430658.9TP53, BAX, CTNNB1, APC
23negative regulation of cell proliferationGO:0082858.8APC, CTNNB1, PTEN, TP53
24apoptotic processGO:0069158.7APC, CTNNB1, BAX, PTEN, TGFBR2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:03214310.1MSH2, MSH6
2oxidized purine DNA bindingGO:03235710.1MSH6, MSH2
3single guanine insertion bindingGO:03214210.0MSH2, MSH6
4guanine/thymine mispair bindingGO:03213710.0MSH2, MLH1, MSH6
5MutSalpha complex bindingGO:03240710.0MLH1, PMS2, PMS1
6four-way junction DNA bindingGO:00040010.0MSH2, MSH6
7mismatched DNA bindingGO:0309839.9MSH6, MSH2, PMS1
8MutLalpha complex bindingGO:0324059.9MSH6, MSH2
9single-stranded DNA bindingGO:0036979.7PMS2, MSH2, MLH1, PMS1
10double-stranded DNA bindingGO:0036909.6MSH6, MSH2, CTNNB1
11ATPase activityGO:0168879.5MSH2, PMS1, PMS2, MLH1, MSH6
12protein kinase bindingGO:0199018.8TP53, PTEN, MSH2, CTNNB1, APC
13enzyme bindingGO:0198998.6PTEN, TP53, CTNNB1, MSH2
14ATP bindingGO:0055247.5PMS1, TP53, TGFBR2, MSH2, MSH6, PMS2
15protein bindingGO:0055155.4MSH2, BAX, TGFBR2, PMS2, APC, CTNNB1

Products for genes affiliated with Turcot Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Turcot Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet