MCID: MTY001
MIFTS: 53

Mutyh-Associated Polyposis malady

Genetic diseases, Rare diseases categories

Summaries for Mutyh-Associated Polyposis

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NIH Rare Diseases:43 Myh-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. this condition, a milder form of familial adenomatous polyposis (fap), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. people with this condition have fewer polyps than those with the classic type of fap; fewer than 100 polyps typically develop, rather than hundreds or thousands. they may also be at increased risk for upper gastrointestinal polyps. myh-associated polyposis is caused by mutations in the myh gene. last updated: 6/28/2011

MalaCards based summary: Mutyh-Associated Polyposis, also known as myh-associated polyposis, is related to pancreatitis and colorectal cancer. An important gene associated with Mutyh-Associated Polyposis is MUTYH (mutY homolog), and among its related pathways are mTOR Pathway and G protein signaling Ras family GTPases in kinase cascades scheme . The compounds 8-oxo-dg and oxaliplatin have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and liver, and related mouse phenotypes are pigmentation and limbs/digits/tail.

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Aliases & Classifications for Mutyh-Associated Polyposis

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Mutyh-Associated Polyposis, Aliases & Descriptions:

Name: Mutyh-Associated Polyposis 21 22
Myh-Associated Polyposis 21 43 24 62
Colorectal Adenomatous Polyposis, Autosomal Recessive 21
Autosomal Recessive Familial Adenomatous Polyposis 43
Multiple Colorectal Adenomas, Autosomal Recessive 21
 
Colorectal Adenomatous Polyposis 43
Familial Adenomatous Polyposis 43
Familial Polyposis Coli 43
Map Syndrome 43
Fap 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Mutyh-Associated Polyposis

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Diseases related to Mutyh-Associated Polyposis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.0KRAS, SMAD4
2colorectal cancer30.8SMAD4, APC, TP53, KRAS
3hepatocellular carcinoma30.7KRAS, MUTYH, TP53, APC, SMAD4
4adenoma30.6KRAS, MUTYH, TP53, APC, SMAD4
5gastric adenocarcinoma30.5SMAD4, APC, KRAS
6mismatch repair cancer syndrome30.4APC
7thyroid cancer30.4TP53, APC
8pancreatic cancer30.3KRAS, SMAD4
9lynch syndrome30.3APC, TP53, MUTYH, KRAS
10adenocarcinoma30.3SMAD4, APC, TP53, KRAS
11adenomatous polyposis coli30.3KRAS, MUTYH, TP53, APC, SMAD4
12gastric cancer, somatic30.2SMAD4, APC, TP53, MUTYH, KRAS
13attenuated familial adenomatous polyposis11.1
14colitis10.9
15ulcerative colitis10.9
16hepatoblastoma10.7
17colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.7
18polyneuropathy10.6
19hepatocellular adenoma10.6
20pouchitis10.6
21colon adenoma10.5
22nasopharyngitis10.5
23retinitis10.5
24blindness10.5
25crohn's disease10.5
26acute pancreatitis10.5
27gastroduodenitis10.5
28papillary carcinoma10.5
29duodenal disease10.5
30inflammatory bowel disease10.5
31juvenile nasopharyngeal angiofibroma10.5
32colorectal adenoma10.4
33gastrointestinal stromal tumor10.4
34desmoid disease, hereditary10.4
35peutz-jeghers syndrome10.4
36hemangioma10.4
37periampullary adenoma10.4
38pulmonary sclerosing hemangioma10.4
39sarcoma10.4
40sclerosing hemangioma10.4
41fibromatosis10.4
42mental retardation10.4
43mutyh-related attenuated familial adenomatous polyposis10.4
44apc-related attenuated familial adenomatous polyposis10.4
45axin2-related attenuated familial adenomatous polyposis10.4
46amyloidosis, hereditary, transthyretin-related10.3
47adenomas, multiple colorectal10.3
48familial adenomatous polyposis due to 5q22.2 microdeletion10.3
49testicular germ cell tumor10.3
50familial colorectal cancer10.3

Graphical network of the top 20 diseases related to Mutyh-Associated Polyposis:



Diseases related to mutyh-associated polyposis

Symptoms for Mutyh-Associated Polyposis

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Drugs & Therapeutics for Mutyh-Associated Polyposis

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Drug clinical trials:

Search ClinicalTrials for Mutyh-Associated Polyposis

Search NIH Clinical Center for Mutyh-Associated Polyposis

Genetic Tests for Mutyh-Associated Polyposis

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Genetic tests related to Mutyh-Associated Polyposis:

id Genetic test Affiliating Genes
1 Mutyh-Associated Polyposis22 MUTYH
2 Myh-Associated Polyposis24

Anatomical Context for Mutyh-Associated Polyposis

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MalaCards organs/tissues related to Mutyh-Associated Polyposis:

33
Colon, Testes, Liver, Thyroid

Animal Models for Mutyh-Associated Polyposis or affiliated genes

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Publications for Mutyh-Associated Polyposis

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Articles related to Mutyh-Associated Polyposis:

(show all 41)
idTitleAuthorsYear
1
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. (24470512)
2014
2
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. (24620956)
2014
3
Establishing a diagnostic road map for MUTYH-associated polyposis. (24486588)
2014
4
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. (22872101)
2013
5
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. (22865608)
2013
6
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. (23361220)
2013
7
Identification of a patient with atypical MUTYH-associated polyposis through detection of the KRAS c.34G>T mutation in liver metastasis. (23341527)
2013
8
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. (23599153)
2013
9
Role of the microenvironment in the tumourigenesis of microsatellite unstable and MUTYH-associated polyposis colorectal cancers. (22294774)
2012
10
Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis? (21846783)
2012
11
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. (22744763)
2012
12
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. (22876359)
2012
13
French experts report on MUTYH-associated polyposis (MAP). (22538434)
2012
14
MUTYH associated polyposis coli: one common and one rare mutation. (22402879)
2012
15
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). (22103048)
2011
16
MUTYH-associated polyposis (MAP). (20663686)
2011
17
Frequent mutation in North African patients with MUTYH-associated polyposis. (21443744)
2011
18
Bronchioloalveolar adenocarcinoma and pulmonary langerhans cell histiocytosis in a patient with MUTYH-associated polyposis. (21189386)
2011
19
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. (20512164)
2010
20
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. (20618354)
2010
21
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. (21178863)
2010
22
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. (21044966)
2010
23
Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP). (20625837)
2010
24
Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. (19672709)
2010
25
Colorectal cancer survival advantage in MUTYH-associated polyposis and Lynch syndrome families. (21044965)
2010
26
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. (19732775)
2009
27
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. (19032956)
2009
28
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. (19462419)
2009
29
MUTYH-associated polyposis. (19414147)
2009
30
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. (19527492)
2009
31
Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis. (19031083)
2009
32
MUTYH-associated polyposis and colorectal cancer. (19793568)
2009
33
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. (19806110)
2009
34
MUTYH Associated Polyposis (MAP). (19506731)
2008
35
Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. (18172263)
2008
36
High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas. (18506705)
2008
37
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. (17161978)
2007
38
Duodenal carcinoma in MUTYH-associated polyposis. (16943222)
2006
39
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. (16557584)
2006
40
From gene to disease; MutYH-associated polyposis coli (MAP)]. (16425850)
2005
41
MUTYH-Associated Polyposis (23035301)
1993

Variations for Mutyh-Associated Polyposis

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Clinvar genetic disease variations for Mutyh-Associated Polyposis:

7
id Gene Variation Type Significance SNP ID Assembly Location
1MUTYHNM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del)deletionPathogenicGRCh37Chr 1, 45796891: 45796893
2MUTYHNM_001128425.1(MUTYH): c.1228_1229insGG (p.Glu410Glyfs)insertionPathogenicGRCh37Chr 1, 45797186: 45797187
3MUTYHNM_001128425.1(MUTYH): c.933+3A> Csingle nucleotide variantPathogenicGRCh37Chr 1, 45797835: 45797835
4MUTYHNM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp)single nucleotide variantPathogenicrs200844166GRCh37Chr 1, 45796912: 45796912
5MUTYHNM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys)single nucleotide variantLikely pathogenic, Pathogenicrs200495564GRCh37Chr 1, 45798118: 45798118
6MUTYHNM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys)single nucleotide variantPathogenicrs34612342GRCh37Chr 1, 45798475: 45798475
7MUTYHNM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp)single nucleotide variantPathogenicrs36053993GRCh37Chr 1, 45797228: 45797228
8MUTYHNM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs)deletionPathogenicGRCh37Chr 1, 45796869: 45796869
9MUTYHNM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter)single nucleotide variantPathogenicrs121908380GRCh37Chr 1, 45799121: 45799121
10MUTYHNM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter)single nucleotide variantPathogenicrs121908381GRCh37Chr 1, 45796892: 45796892

Expression for genes affiliated with Mutyh-Associated Polyposis

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Search GEO for disease gene expression data for Mutyh-Associated Polyposis.

Pathways for genes affiliated with Mutyh-Associated Polyposis

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Pathways related to Mutyh-Associated Polyposis according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4KRAS, TP53
2
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
9.4KRAS, TP53
3
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
9.4KRAS, TP53
49.4TP53, KRAS
5
Show member pathways
9.4TP53, KRAS
69.4KRAS, TP53
79.4KRAS, TP53
89.4KRAS, TP53
99.3SMAD4, KRAS
109.3SMAD4, KRAS
11
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
9.3KRAS, SMAD4
12
Show member pathways
Delta-Notch Signaling Pathway38
Notch Signaling Pathway38
9.3TP53, SMAD4
13
Show member pathways
Cell cycle38
9.3TP53, SMAD4
149.3TP53, SMAD4
159.3TP53, SMAD4
169.3TP53, SMAD4
179.3TP53, SMAD4
189.3SMAD4, TP53
199.3SMAD4, TP53
209.1APC, TP53
219.1APC, TP53
229.1APC, TP53
239.1TP53, APC
249.0APC, SMAD4
25
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.8KRAS, TP53, SMAD4
268.8SMAD4, TP53, KRAS
27
Show member pathways
8.8SMAD4, TP53, KRAS
28
Show member pathways
8.6KRAS, TP53, APC
298.6APC, TP53, KRAS
30
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
8.5TP53, APC, SMAD4
31
Show member pathways
Wnt Signaling Pathway NetPath38
8.5SMAD4, APC, TP53
328.0KRAS, TP53, APC, SMAD4
338.0SMAD4, APC, TP53, KRAS
348.0SMAD4, APC, TP53, KRAS
35
Show member pathways
8.0KRAS, TP53, APC, SMAD4
36
Show member pathways
Signal transduction PTEN pathway60
8.0KRAS, TP53, APC, SMAD4

Compounds for genes affiliated with Mutyh-Associated Polyposis

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Compounds related to Mutyh-Associated Polyposis according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
18-oxo-dg459.8TP53, MUTYH
2oxaliplatin45 51 1311.6KRAS, TP53
3irinotecan45 51 1311.6TP53, KRAS
4leptomycin b45 6110.6TP53, SMAD4
5af/ap459.5APC, MUTYH
68-oxoguanine459.5APC, MUTYH
7cyclophosphamide45 51 1311.5MUTYH, TP53
85-methylcytosine45 2610.4APC, TP53
9sulindac45 1310.4TP53, APC
10methylmethanesulfonate459.4APC, TP53
11cisplatin45 51 61 1312.2KRAS, MUTYH, TP53
12adenine45 26 1311.2APC, MUTYH
13nocodazole45 1310.2TP53, APC
14h2o2459.2KRAS, MUTYH, TP53
15mg 13245 6110.0TP53, SMAD4
16guanine45 26 1311.0MUTYH, TP53, APC
17o6-methylguanine459.0KRAS, TP53, APC
18vegf458.9KRAS, TP53, SMAD4
19retinoic acid45 269.5KRAS, TP53, APC
20crcs458.3KRAS, TP53, APC, SMAD4
21paraffin458.3KRAS, TP53, APC, SMAD4
22oligonucleotide458.3SMAD4, APC, TP53, KRAS
23estrogen458.3SMAD4, APC, TP53, KRAS
24serine458.3SMAD4, APC, TP53, KRAS

GO Terms for genes affiliated with Mutyh-Associated Polyposis

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Biological processes related to Mutyh-Associated Polyposis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1base-excision repairGO:00062849.6TP53, MUTYH
2Ras protein signal transductionGO:00072659.5KRAS, TP53
3T cell differentiation in thymusGO:00330779.3TP53, APC
4negative regulation of cell growthGO:00303089.3TP53, SMAD4
5transforming growth factor beta receptor signaling pathwayGO:00071799.2TP53, SMAD4
6protein complex assemblyGO:00064619.2APC, TP53
7cellular response to DNA damage stimulusGO:00069749.1TP53, APC
8cell cycle arrestGO:00070508.8TP53, APC
9negative regulation of cell proliferationGO:00082858.7TP53, APC, SMAD4

Molecular functions related to Mutyh-Associated Polyposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:00010859.0TP53, SMAD4
2protein bindingGO:00055157.5KRAS, MUTYH, TP53, APC, SMAD4

Products for genes affiliated with Mutyh-Associated Polyposis

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Sources for Mutyh-Associated Polyposis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet