MCID: MTY001
MIFTS: 51

Mutyh-Associated Polyposis malady

Genetic diseases, Rare diseases categories
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Summaries for Mutyh-Associated Polyposis

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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 based summary: Mutyh-Associated Polyposis, also known as myh-associated polyposis, is related to colorectal cancer and lynch syndrome. 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 19 20
Myh-Associated Polyposis 19 42 22 62
Colorectal Adenomatous Polyposis, Autosomal Recessive 19
 
Autosomal Recessive Familial Adenomatous Polyposis 42
Multiple Colorectal Adenomas, Autosomal Recessive 19
Map Syndrome 42


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 55)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer30.0TP53, APC, SMAD4, KRAS, MUTYH
2lynch syndrome29.9TP53, KRAS, MUTYH, APC
3pancreatitis29.9KRAS, SMAD4
4adenocarcinoma29.7KRAS, TP53, SMAD4, APC
5adenoma29.7MUTYH, TP53, APC, SMAD4, KRAS
6pancreatic cancer29.7SMAD4, KRAS
7familial adenomatous polyposis29.5MUTYH, TP53, APC, SMAD4, KRAS
8colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.6
9stomach cancer10.4TP53
10intestinal neoplasm10.3APC
11turcot syndrome10.3APC
12desmoid tumor10.3
13familial colorectal cancer10.3
14germ cell tumors10.3
15testicular germ cell tumor10.3
16colorectal adenoma10.3
17langerhans-cell histiocytosis10.3
18duodenitis10.3
19histiocytosis10.3
20thyroid cancer10.3
21thyroiditis10.3
22malignant mixed mullerian tumor10.2KRAS, TP53
23endometrial carcinoma10.2KRAS, TP53
24breast ductal carcinoma10.1SMAD4, TP53
25adrenocortical carcinoma10.1TP53, SMAD4
26seminoma10.1SMAD4, KRAS
27pancreatitis, chronic10.1KRAS, SMAD4
28nasopharynx carcinoma10.1SMAD4, TP53
29non-small cell lung carcinoma10.1KRAS, TP53
30colon adenocarcinoma10.0SMAD4, KRAS
31rhabdomyosarcoma10.0SMAD4, TP53
32barrett's esophagus10.0APC, TP53
33juvenile polyposis syndrome10.0APC, SMAD4
34gastrinoma10.0APC, SMAD4
35thyroid hurthle cell carcinoma10.0APC, TP53
36squamous cell carcinoma of the head and neck10.0SMAD4, TP53
37cholangiocarcinoma9.9SMAD4, KRAS, TP53
38lung adenocarcinoma9.9TP53, SMAD4, KRAS
39breast cancer9.9KRAS, APC
40gastric cancer, somatic9.9APC, KRAS, MUTYH
41medulloblastoma9.9APC, TP53
42rectal neoplasm9.9KRAS, MUTYH, APC
43ovarian cancer9.9KRAS, TP53, SMAD4
44burkitt's lymphoma9.9TP53, SMAD4, KRAS
45gallbladder cancer9.8APC, TP53, KRAS
46cervical cancer9.8SMAD4, TP53
47esophageal cancer9.8SMAD4, TP53, APC
48gastric adenocarcinoma9.8KRAS, APC, SMAD4
49lung cancer9.7SMAD4, MUTYH, KRAS, TP53
50lung benign neoplasm9.6KRAS, APC, TP53, SMAD4

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:

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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 Polyposis20 MUTYH
2 Myh-Associated Polyposis22

Anatomical Context for Mutyh-Associated Polyposis

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MalaCards organs/tissues related to Mutyh-Associated Polyposis:

32
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 40)
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
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. (22744763)
2012
11
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. (22876359)
2012
12
French experts report on MUTYH-associated polyposis (MAP). (22538434)
2012
13
MUTYH associated polyposis coli: one common and one rare mutation. (22402879)
2012
14
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). (22103048)
2011
15
MUTYH-associated polyposis (MAP). (20663686)
2011
16
Frequent mutation in North African patients with MUTYH-associated polyposis. (21443744)
2011
17
Bronchioloalveolar adenocarcinoma and pulmonary langerhans cell histiocytosis in a patient with MUTYH-associated polyposis. (21189386)
2011
18
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. (20512164)
2010
19
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. (20618354)
2010
20
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. (21178863)
2010
21
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. (21044966)
2010
22
Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP). (20625837)
2010
23
Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. (19672709)
2010
24
Colorectal cancer survival advantage in MUTYH-associated polyposis and Lynch syndrome families. (21044965)
2010
25
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. (19732775)
2009
26
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. (19032956)
2009
27
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. (19462419)
2009
28
MUTYH-associated polyposis. (19414147)
2009
29
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. (19527492)
2009
30
Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis. (19031083)
2009
31
MUTYH-associated polyposis and colorectal cancer. (19793568)
2009
32
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. (19806110)
2009
33
MUTYH Associated Polyposis (MAP). (19506731)
2008
34
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
35
High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas. (18506705)
2008
36
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. (17161978)
2007
37
Duodenal carcinoma in MUTYH-associated polyposis. (16943222)
2006
38
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. (16557584)
2006
39
From gene to disease; MutYH-associated polyposis coli (MAP)]. (16425850)
2005
40
MUTYH-Associated Polyposis (23035301)
1993

Variations for Mutyh-Associated Polyposis

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Clinvar genetic disease variations for Mutyh-Associated Polyposis:

6
id Gene Name 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 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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Expression patterns in normal tissues for genes affiliated with Mutyh-Associated Polyposis

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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 Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.4KRAS, TP53
3
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
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 events37
Polo-like kinase signaling events in the cell cycle37
9.3KRAS, SMAD4
12
Show member pathways
Delta-Notch Signaling Pathway37
Notch Signaling Pathway37
9.3TP53, SMAD4
13
Show member pathways
Cell cycle37
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 pathway37
Regulation of toll-like receptor signaling pathway37
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)37
Wnt Signaling Pathway and Pluripotency37
8.5TP53, APC, SMAD4
31
Show member pathways
Wnt Signaling Pathway NetPath37
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-dg449.8TP53, MUTYH
2oxaliplatin44 50 1111.6KRAS, TP53
3irinotecan44 50 1111.6TP53, KRAS
4leptomycin b44 6110.6TP53, SMAD4
5af/ap449.5APC, MUTYH
68-oxoguanine449.5APC, MUTYH
7cyclophosphamide44 50 1111.5MUTYH, TP53
85-methylcytosine44 2410.4APC, TP53
9sulindac44 1110.4TP53, APC
10methylmethanesulfonate449.4APC, TP53
11cisplatin44 50 61 1112.2KRAS, MUTYH, TP53
12adenine44 24 1111.2APC, MUTYH
13nocodazole44 1110.2TP53, APC
14h2o2449.2KRAS, MUTYH, TP53
15mg 13244 6110.0TP53, SMAD4
16guanine44 24 1111.0MUTYH, TP53, APC
17o6-methylguanine449.0KRAS, TP53, APC
18vegf448.9KRAS, TP53, SMAD4
19retinoic acid44 249.5KRAS, TP53, APC
20crcs448.3KRAS, TP53, APC, SMAD4
21paraffin448.3KRAS, TP53, APC, SMAD4
22oligonucleotide448.3SMAD4, APC, TP53, KRAS
23estrogen448.3SMAD4, APC, TP53, KRAS
24serine448.3SMAD4, 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:0062849.6TP53, MUTYH
2Ras protein signal transductionGO:0072659.5KRAS, TP53
3T cell differentiation in thymusGO:0330779.3TP53, APC
4negative regulation of cell growthGO:0303089.3TP53, SMAD4
5transforming growth factor beta receptor signaling pathwayGO:0071799.2TP53, SMAD4
6protein complex assemblyGO:0064619.2APC, TP53
7cellular response to DNA damage stimulusGO:0069749.1TP53, APC
8cell cycle arrestGO:0070508.8TP53, APC
9negative regulation of cell proliferationGO:0082858.7TP53, APC, SMAD4

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:0010859.0TP53, SMAD4
2protein bindingGO:0055157.5KRAS, 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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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