MCID: MTY001
MIFTS: 46

Mutyh-Associated Polyposis malady

Genetic diseases category

Summaries for Mutyh-Associated Polyposis

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42NIH Rare Diseases, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: Mutyh-Associated Polyposis, also known as myh-associated polyposis, is related to colorectal cancer and adenoma. An important gene associated with Mutyh-Associated Polyposis is MUTYH (mutY homolog), and among its related pathways are Thyroid cancer and Akt Signaling Pathway . The compounds guanine and 8-oxo-dg have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and thyroid, and related mouse phenotypes are homeostasis/metabolism and endocrine/exocrine gland.

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Aliases & Classifications for Mutyh-Associated Polyposis

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Classifications:

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


Aliases & Descriptions:

mutyh-associated polyposis 19 20
myh-associated polyposis 19 42 22 60
colorectal adenomatous polyposis, autosomal recessive 19
autosomal recessive familial adenomatous polyposis 42
multiple colorectal adenomas, autosomal recessive 19
map syndrome 42


Related Diseases for Mutyh-Associated Polyposis

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17GeneCards, 18GeneDecks
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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 60)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer30.7TP53, SMAD4, KRAS, MUTYH, APC
2adenoma30.6APC, MUTYH, KRAS, SMAD4, TP53
3thyroid cancer30.3TP53, APC
4lynch syndrome30.2APC, MUTYH, KRAS, TP53
5adenocarcinoma30.2APC, KRAS, SMAD4, TP53
6familial adenomatous polyposis30.2APC, MUTYH, KRAS, SMAD4, TP53
7pancreatitis29.7SMAD4, KRAS
8pancreatic cancer29.7SMAD4, KRAS
9colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.5
10duodenitis10.2
11histiocytosis10.2
12langerhans-cell histiocytosis10.2
13thyroiditis10.2
14esophageal cancer10.0TP53
15ulcerative colitis10.0TP53
16bladder carcinoma10.0TP53
17kidney cancer10.0TP53
18pancreas disease10.0SMAD4
19juvenile myelomonocytic leukemia10.0KRAS
20leiomyoma10.0SMAD4
21cystadenoma10.0KRAS
22peutz-jeghers syndrome10.0APC
23intestinal neoplasm10.0APC
24nephroblastoma10.0TP53
25turcot syndrome10.0APC
26fibrous dysplasia10.0APC
27adrenocortical carcinoma10.0TP53
28biliary tract neoplasm10.0SMAD4
29melanoma10.0TP53, KRAS
30lung cancer10.0TP53, KRAS
31malignant mixed mullerian tumor10.0KRAS, TP53
32seminoma10.0SMAD4, KRAS
33leukemia10.0KRAS, TP53
34glioblastoma multiforme10.0SMAD4, TP53
35cervical squamous cell carcinoma10.0KRAS
36gastric cancer, somatic10.0MUTYH, APC
37colon adenocarcinoma10.0SMAD4, KRAS
38pancreatitis, chronic10.0SMAD4, KRAS
39nasopharynx carcinoma10.0TP53, SMAD4
40juvenile polyposis syndrome10.0APC, SMAD4
41barrett's esophagus10.0TP53, APC
42gastrinoma10.0APC, SMAD4
43cholangiocarcinoma10.0TP53, SMAD4, KRAS
44lung adenocarcinoma10.0KRAS, SMAD4, TP53
45cervical cancer10.0TP53, SMAD4, KRAS
46rectal neoplasm10.0APC, MUTYH, KRAS
47endometrial carcinoma10.0KRAS, SMAD4, TP53
48gallbladder cancer10.0TP53, KRAS, APC
49ovarian cancer10.0KRAS, SMAD4, TP53
50breast cancer10.0TP53, SMAD4, KRAS

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



Diseases related to mutyh-associated polyposis

Clinical Features for Mutyh-Associated Polyposis

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Drugs & Therapeutics for Mutyh-Associated Polyposis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Mutyh-Associated Polyposis

Genetic Tests for Mutyh-Associated Polyposis

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20GeneTests, 22GTR
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Genetic tests related to Mutyh-Associated Polyposis:

id Genetic test Affiliating Genes
1 Mutyh-Associated Polyposis20 MUTYH
2 Myh-Associated Polyposis22

Anatomical Context for Mutyh-Associated Polyposis

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32MalaCards
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MalaCards organs/tissues related to Mutyh-Associated Polyposis:

32
Colon, Liver, Thyroid, Testes

Animal Models for Mutyh-Associated Polyposis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mutyh-Associated Polyposis:

36 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.2MUTYH
2MP:00053799.6TP53, KRAS
3MP:00053708.3APC, KRAS, SMAD4, TP53
4MP:00053678.3TP53, SMAD4, KRAS, APC
5MP:00053818.2TP53, SMAD4, KRAS, APC
6MP:00053698.2APC, KRAS, SMAD4, TP53
7MP:00107718.1APC, KRAS, SMAD4, TP53
8MP:00053808.1TP53, SMAD4, KRAS, APC
9MP:00053858.0TP53, SMAD4, KRAS, APC
10MP:00028737.9TP53, SMAD4, KRAS, APC
11MP:00020067.8TP53, SMAD4, KRAS, MUTYH, APC
12MP:00036317.8APC, MUTYH, KRAS, SMAD4, TP53
13MP:00053847.8APC, MUTYH, KRAS, SMAD4, TP53
14MP:00053897.7APC, KRAS, SMAD4, TP53
15MP:00107687.5APC, MUTYH, KRAS, SMAD4, TP53

Publications for Mutyh-Associated Polyposis

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50PubMed
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Articles related to Mutyh-Associated Polyposis:

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

Genetic Variations for Mutyh-Associated Polyposis

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Expression for genes affiliated with Mutyh-Associated Polyposis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mutyh-Associated Polyposis

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

Pathways for genes affiliated with Mutyh-Associated Polyposis

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29KEGG, 52R&D Systems, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Mutyh-Associated Polyposis according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4KRAS, TP53
29.4TP53, KRAS
3
G-protein signaling Ras family GTPases in kinase cascades (scheme)
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9.4TP53, KRAS
49.3KRAS, SMAD4
59.3TP53, SMAD4
69.3TP53, SMAD4
79.3TP53, SMAD4
8
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9.3TP53, SMAD4
9
Signal transduction JNK pathway
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9.3TP53, SMAD4
109.1TP53, APC
119.1APC, TP53
12
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8.8KRAS, SMAD4, TP53
13
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8.8KRAS, SMAD4, TP53
148.8KRAS, SMAD4, TP53
158.6TP53, KRAS, APC
16
Hide members
8.6TP53, KRAS, APC
17
Hide members
8.6TP53, KRAS, APC
18
Hide members
8.5TP53, SMAD4, APC
19
Hide members
8.5APC, SMAD4, TP53
20
Hide members
8.0TP53, SMAD4, KRAS, APC
218.0TP53, SMAD4, KRAS, APC
228.0APC, KRAS, SMAD4, TP53
238.0APC, KRAS, SMAD4, TP53

Compounds for genes affiliated with Mutyh-Associated Polyposis

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Mutyh-Associated Polyposis according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1guanine44 11 2412.3MUTYH
28-oxo-dg449.7MUTYH, TP53
3oxaliplatin44 49 1111.5TP53, KRAS
4af/ap449.5MUTYH, APC
58-oxoguanine449.4APC, MUTYH
6leptomycin b44 5910.4TP53, SMAD4
75-methylcytosine44 2410.4APC, TP53
8irinotecan44 49 1111.3TP53, KRAS
9sulindac44 1110.3TP53, APC
10methylmethanesulfonate449.3APC, TP53
11nocodazole44 1110.1TP53, APC
12o6-methylguanine448.9APC, KRAS, TP53
13h2o2448.7TP53, KRAS, MUTYH
14crcs448.3TP53, SMAD4, KRAS, APC
15paraffin448.3APC, KRAS, SMAD4, TP53
16oligonucleotide448.3APC, KRAS, SMAD4, TP53
17serine448.0APC, KRAS, SMAD4, TP53

GO Terms for genes affiliated with Mutyh-Associated Polyposis

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16Gene Ontology
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Biological processes related to Mutyh-Associated Polyposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Ras protein signal transductionGO:0072659.4TP53, KRAS
2base-excision repairGO:0062849.4TP53, MUTYH
3T cell differentiation in thymusGO:0330779.1TP53, APC
4negative regulation of cell proliferationGO:0082858.2TP53, SMAD4, APC

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:0010859.3TP53, SMAD4

Products for genes affiliated with Mutyh-Associated Polyposis

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Sources for Mutyh-Associated Polyposis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet