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MMRCS
MCID: TRC032
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Turcot Syndrome malady |
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1 drug, 14 genes, 2 tissues, 284 related diseases, 21 phenotypes, 15 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: 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.30
MalaCards: Turcot Syndrome, also known as mismatch repair cancer syndrome, is related to adenomatous polyposis coli and attenuated familial adenomatous polyposis. An important gene associated with Turcot Syndrome is PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae)), and among its related pathways are Signal transduction PTEN pathway and Colorectal cancer. The drug celecoxib and the compounds pge2 and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include brain and colon, and related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail. Wikipedia: Mismatch repair cancer syndrome (MMRCS) is a condition associated with biallelic DNA mismatch repair...44 more... OMIM: 276300 |
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Sources: 7diseasecard, 30NIH Rare Diseases, 16GeneTests, 33OMIM, 32Novoseek , 43UMLS See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 276300
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-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 Inferred drug relations via UMLS/NDF-RT:43 28 celecoxib |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to turcot syndrome:22Brain, Colon
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to turcot syndrome:25 (show all 21)
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Sources: 35PubMed See all sources |
Articles related to turcot syndrome:(show all 15)
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Sources: 1BioGPS See all sources |
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Sources: 10EMD Millipore, 20KEGG, 36QIAGEN, 3Cell Signaling Technology, 34PharmGKB, 41Thomson Reuters See all sources |
Pathways related to turcot syndrome according to GeneDecks:(show all 21)
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Sources: 32Novoseek , 18HMDB, 42Tocris Bioscience, 9DrugBank, 34PharmGKB See all sources |
Compounds related to turcot syndrome according to GeneDecks:(show top 50) (show all 73)
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Sources: 12Gene Ontology See all sources |
Cellular components related to turcot syndrome according to GeneDecks:
Biological processes related to turcot syndrome according to GeneDecks:(show all 14)
Molecular functions related to turcot syndrome according to GeneDecks:
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