MCID: MTY001
MIFTS: 50

Mutyh-Associated Polyposis malady

Genetic diseases, Rare diseases categories

Summaries for Mutyh-Associated Polyposis

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NIH Rare Diseases:41 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 mismatch repair cancer syndrome and pancreatitis. An important gene associated with Mutyh-Associated Polyposis is MUTYH (mutY homolog), and among its related pathways are Direct p53 effectors and Colorectal Cancer Metastasis. The drug celecoxib and the compounds af/ap and 8-oxoguanine 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.

GeneReviews summary for maps

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 41 22
Colorectal Adenomatous Polyposis, Autosomal Recessive 19
Autosomal Recessive Familial Adenomatous Polyposis 41
Multiple Colorectal Adenomas, Autosomal Recessive 19
Colorectal Adenomatous Polyposis 41
 
Familial Adenomatous Polyposis 41
Adenomatous Polyposis Coli 60
Familial Polyposis Coli 41
Map Syndrome 41
Fap 41


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 Suite gene sharing:

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1mismatch repair cancer syndrome31.0APC
2pancreatitis30.9KRAS, SMAD4
3thyroid cancer30.5APC, TP53
4colorectal cancer30.3SMAD4, KRAS, APC, TP53
5gastric adenocarcinoma30.3KRAS, APC, SMAD4
6pancreatic cancer30.0SMAD4, KRAS
7lynch syndrome30.0TP53, KRAS, MUTYH, APC
8hepatocellular carcinoma29.9KRAS, SMAD4, APC, TP53, MUTYH
9adenoma29.8MUTYH, TP53, APC, SMAD4, KRAS
10adenocarcinoma29.7KRAS, TP53, SMAD4, APC
11adenomatous polyposis coli29.5MUTYH, TP53, APC, SMAD4, KRAS
12gastric cancer, somatic29.4MUTYH, TP53, KRAS, APC, SMAD4
13attenuated familial adenomatous polyposis11.1
14colitis10.9
15ulcerative colitis10.9
16colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.7
17hepatoblastoma10.7
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
31mutyh-related attenuated familial adenomatous polyposis10.5
32apc-related attenuated familial adenomatous polyposis10.5
33juvenile nasopharyngeal angiofibroma10.5
34axin2-related attenuated familial adenomatous polyposis10.5
35colorectal adenoma10.4
36intestinal neoplasm10.4APC
37stomach cancer10.4TP53
38gastrointestinal stromal tumor10.4
39desmoid disease, hereditary10.4
40peutz-jeghers syndrome10.4
41hemangioma10.4
42periampullary adenoma10.4
43pulmonary sclerosing hemangioma10.4
44sarcoma10.4
45sclerosing hemangioma10.4
46fibromatosis10.4
47mental retardation10.4
48amyloidosis, hereditary, transthyretin-related10.3
49adenomas, multiple colorectal10.3
50familial adenomatous polyposis due to 5q22.2 microdeletion10.3

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

Inferred drug relations via UMLS60/NDF-RT39:

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:

31
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:

6 (show all 30)
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
11APCNM_000038.5(APC): c.730_731delAG (p.Arg244Valfs)deletionPathogenicrs387906228GRCh37Chr 5, 112136976: 112136977
12APCNM_000038.5(APC): c.1369delT (p.Ser457Hisfs)deletionPathogenicrs387906229GRCh37Chr 5, 112157649: 112157649
13APCNM_000038.5(APC): c.1500T> G (p.Tyr500Ter)single nucleotide variantPathogenicrs387906230GRCh37Chr 5, 112162896: 112162896
14APCNM_000038.5(APC): c.509_512delATAG (p.Asp170Valfs)deletionPathogenicrs387906231GRCh37Chr 5, 112111412: 112111415
15APCNM_000038.5(APC): c.1069dupA (p.Ile357Asnfs)duplicationPathogenicrs387906232GRCh37Chr 5, 112154798: 112154799
16APCNM_000038.5(APC): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs137854572GRCh37Chr 5, 112163698: 112163698
17APCNM_000038.5(APC): c.1660C> T (p.Arg554Ter)single nucleotide variantPathogenicrs137854573GRCh37Chr 5, 112164586: 112164586
18APCNM_000038.5(APC): c.1690C> T (p.Arg564Ter)single nucleotide variantPathogenicrs137854574GRCh37Chr 5, 112164616: 112164616
19APCNM_000038.5(APC): c.1885_1886insA (p.Leu629Tyrfs)insertionPathogenicrs387906233GRCh37Chr 5, 112170789: 112170790
20APCNM_000038.5(APC): c.2805C> A (p.Tyr935Ter)single nucleotide variantPathogenicrs137854575GRCh37Chr 5, 112174096: 112174096
21APCNM_000038.5(APC): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs137854576GRCh37Chr 5, 112111373: 112111373
22APCNM_000038.5(APC): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs137854577GRCh37Chr 5, 112116598: 112116598
23NM_001127510.2: c.1959-640_*64188del71402deletionPathogenicGRCh37Chr 5, 112172610: 112244011
24APCNM_000038.5(APC): c.5942delA (p.Asn1981Ilefs)deletionPathogenicrs397509433GRCh37Chr 5, 112177233: 112177233
25APCNM_000038.5(APC): c.5582_5585delCTTT (p.Ser1861Terfs)deletionPathogenicGRCh38Chr 5, 112841176: 112841179
26APCNM_000038.5(APC): c.1098_1099delCT (p.Ser367Cysfs)deletionPathogenicrs387906237GRCh37Chr 5, 112154827: 112154828
27APCNM_000038.5(APC): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs387906238GRCh37Chr 5, 112154921: 112154922
28APCNM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs)deletionPathogenicrs387906239GRCh37Chr 5, 112154666: 112154667
29APCAPC deletiondeletionPathogenicGRCh38Chr 5, 112707504: 112846240
30APCNM_000038.5(APC): c.423-1G> Asingle nucleotide variantPathogenicrs397514031GRCh37Chr 5, 112111325: 112111325

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 Suite gene sharing:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4APC, TP53
29.4APC, TP53
39.4TP53, APC
49.3TP53, KRAS
5
Show member pathways
9.3TP53, KRAS
69.3KRAS, TP53
7
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
9.3KRAS, TP53
8
Show member pathways
9.3KRAS, TP53
9
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
9.3KRAS, TP53
109.3KRAS, TP53
119.3KRAS, TP53
129.1APC, SMAD4
13
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
9.1TP53, SMAD4
14
Show member pathways
Cell cycle36
9.1TP53, SMAD4
159.1TP53, SMAD4
169.1SMAD4, TP53
179.1TP53, SMAD4
189.1TP53, SMAD4
199.1TP53, SMAD4
209.0SMAD4, KRAS
21
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.0KRAS, SMAD4
229.0SMAD4, KRAS
238.8APC, TP53, KRAS
24
Show member pathways
8.8KRAS, TP53, APC
25
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
8.6TP53, APC, SMAD4
26
Show member pathways
Wnt Signaling Pathway NetPath36
8.6SMAD4, APC, TP53
27
Show member pathways
8.5SMAD4, TP53, KRAS
288.5SMAD4, TP53, KRAS
29
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.5KRAS, TP53, SMAD4
308.0SMAD4, APC, TP53, KRAS
318.0SMAD4, APC, TP53, KRAS
32
Show member pathways
8.0KRAS, TP53, APC, SMAD4
33
Show member pathways
Signal transduction PTEN pathway58
8.0KRAS, TP53, APC, SMAD4
348.0KRAS, TP53, APC, SMAD4

Compounds for genes affiliated with Mutyh-Associated Polyposis

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Compounds related to Mutyh-Associated Polyposis according to GeneCards Suite gene sharing:

(show all 24)
idCompoundScoreTop Affiliating Genes
1af/ap439.8APC, MUTYH
28-oxoguanine439.8APC, MUTYH
38-oxo-dg439.8TP53, MUTYH
45-methylcytosine43 2410.7APC, TP53
5sulindac43 1210.7TP53, APC
6methylmethanesulfonate439.7APC, TP53
7oxaliplatin43 49 1211.5KRAS, TP53
8adenine43 24 1211.5APC, MUTYH
9nocodazole43 1210.5TP53, APC
10cyclophosphamide43 49 1211.5MUTYH, TP53
11irinotecan43 49 1211.5TP53, KRAS
12leptomycin b43 5910.4TP53, SMAD4
13guanine43 24 1211.3MUTYH, TP53, APC
14o6-methylguanine439.2KRAS, TP53, APC
15cisplatin43 49 59 1212.1KRAS, MUTYH, TP53
16h2o2439.1KRAS, MUTYH, TP53
17mg 13243 599.8TP53, SMAD4
18retinoic acid43 249.7KRAS, TP53, APC
19vegf438.6KRAS, TP53, SMAD4
20crcs438.3KRAS, TP53, APC, SMAD4
21paraffin438.3KRAS, TP53, APC, SMAD4
22oligonucleotide438.3SMAD4, APC, TP53, KRAS
23estrogen438.3SMAD4, APC, TP53, KRAS
24serine438.3SMAD4, 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 Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1base-excision repairGO:00062849.6TP53, MUTYH
2T cell differentiation in thymusGO:00330779.6TP53, APC
3protein complex assemblyGO:00064619.5APC, TP53
4Ras protein signal transductionGO:00072659.4KRAS, TP53
5cellular response to DNA damage stimulusGO:00069749.4TP53, APC
6cell cycle arrestGO:00070509.1TP53, APC
7negative regulation of cell growthGO:00303089.1TP53, SMAD4
8transforming growth factor beta receptor signaling pathwayGO:00071799.0TP53, SMAD4
9negative regulation of cell proliferationGO:00082858.8TP53, APC, SMAD4

Molecular functions related to Mutyh-Associated Polyposis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:00010858.8TP53, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet