MCID: MTY001
MIFTS: 48

Mutyh-Associated Polyposis

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Mutyh-Associated Polyposis

MalaCards integrated aliases for Mutyh-Associated Polyposis:

Name: Mutyh-Associated Polyposis 24 29 6
Myh-Associated Polyposis 24 53 29 6
Colorectal Adenomatous Polyposis, Autosomal Recessive 24
Autosomal Recessive Familial Adenomatous Polyposis 53
Multiple Colorectal Adenomas, Autosomal Recessive 24
Autosomal Recessive Multiple Colorectal Adenomas 53
Adenomatous Polyposis Coli 73
Mutyh-Associate Polyposis 73
Map Syndrome 53

Characteristics:

GeneReviews:

24
Penetrance Among nearly 20,000 controls tested to date, only one unaffected individual with biallelic germline mutyh pathogenic variants has been reported [lubbe et al 2009, nielsen et al 2011]...

Classifications:



External Ids:

Summaries for Mutyh-Associated Polyposis

NIH Rare Diseases : 53 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 recessivefamilial 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.

MalaCards based summary : Mutyh-Associated Polyposis, also known as myh-associated polyposis, is related to familial adenomatous polyposis and attenuated familial adenomatous polyposis, and has symptoms including abdominal pain and diarrhea. An important gene associated with Mutyh-Associated Polyposis is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are Deubiquitination and Endometrial cancer. The drugs Cola and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and prostate, and related phenotypes are Downregulation of NFkappaB pathway and Increased shRNA abundance

GeneReviews: NBK107219

Related Diseases for Mutyh-Associated Polyposis

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 31.9 APC KRAS MUTYH SMAD4 TP53
2 attenuated familial adenomatous polyposis 30.3 APC MUTYH
3 lynch syndrome 30.0 APC KRAS MUTYH TP53
4 thyroid cancer 29.9 APC KRAS TP53
5 colorectal adenoma 29.8 APC KRAS MUTYH TP53
6 familial colorectal cancer 29.7 APC MT-CO2 MUTYH TP53
7 adenoma 29.7 APC KRAS MUTYH SMAD4 TP53
8 colorectal cancer 29.7 APC KRAS MUTYH SMAD4 TP53
9 adenocarcinoma 29.5 APC KRAS SMAD4 TP53
10 pilomatrixoma 11.7
11 familial adenomatous polyposis 2 11.7
12 jejunal cancer 10.1
13 desmoid tumor 10.1
14 duodenum cancer 10.1 KRAS MUTYH
15 polyposis syndrome, hereditary mixed, 1 10.1 APC MUTYH
16 rare adenocarcinoma of the breast 10.1 KRAS TP53
17 periampullary adenoma 10.1 APC KRAS
18 muir-torre syndrome 10.1
19 langerhans cell histiocytosis 10.1
20 in situ pulmonary adenocarcinoma 10.1
21 histiocytosis 10.1
22 nasal cavity adenocarcinoma 10.1 KRAS TP53
23 mature teratoma 10.1 KRAS TP53
24 pulmonary blastoma 10.1 KRAS TP53
25 biliary papillomatosis 10.1 KRAS TP53
26 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 KRAS TP53
27 liver angiosarcoma 10.1 KRAS TP53
28 pseudomyxoma peritonei 10.1 KRAS TP53
29 ampulla of vater cancer 10.1 KRAS TP53
30 colon adenoma 10.1 APC KRAS
31 gastrointestinal system benign neoplasm 10.1 KRAS TP53
32 bile duct adenocarcinoma 10.1 KRAS TP53
33 barrett's adenocarcinoma 10.1 KRAS TP53
34 anal squamous cell carcinoma 10.1 APC TP53
35 ovary adenocarcinoma 10.1 KRAS TP53
36 ovarian clear cell carcinoma 10.1 KRAS TP53
37 lung benign neoplasm 10.1 KRAS TP53
38 ovarian cancer 1 10.0 KRAS TP53
39 malignant ovarian surface epithelial-stromal neoplasm 10.0 KRAS TP53
40 ovary epithelial cancer 10.0 KRAS TP53
41 adenosquamous carcinoma 10.0 KRAS TP53
42 carcinosarcoma 10.0 KRAS TP53
43 leukemia, chronic lymphocytic 2 10.0 KRAS TP53
44 colonic disease 10.0 KRAS TP53
45 colorectal adenocarcinoma 10.0 KRAS TP53
46 gallbladder disease 10.0 KRAS TP53
47 respiratory system cancer 10.0 KRAS TP53
48 endometrial adenocarcinoma 10.0 KRAS TP53
49 intrahepatic cholangiocarcinoma 10.0 KRAS TP53
50 colloid carcinoma of the pancreas 10.0 KRAS SMAD4

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



Diseases related to Mutyh-Associated Polyposis

Symptoms & Phenotypes for Mutyh-Associated Polyposis

UMLS symptoms related to Mutyh-Associated Polyposis:


abdominal pain, diarrhea

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NFkappaB pathway GR00313-A 8.96 APC SMAD4
2 Increased shRNA abundance GR00327-A 8.8 APC MT-CO2 MUTYH

MGI Mouse Phenotypes related to Mutyh-Associated Polyposis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 APC KRAS SMAD4 TP53
2 digestive/alimentary MP:0005381 9.71 APC KRAS SMAD4 TP53
3 limbs/digits/tail MP:0005371 9.67 APC KRAS SMAD4 TP53
4 liver/biliary system MP:0005370 9.62 APC KRAS SMAD4 TP53
5 muscle MP:0005369 9.56 APC KRAS SMAD4 TP53
6 neoplasm MP:0002006 9.55 APC KRAS MUTYH SMAD4 TP53
7 pigmentation MP:0001186 9.13 APC KRAS TP53
8 renal/urinary system MP:0005367 8.92 APC KRAS SMAD4 TP53

Drugs & Therapeutics for Mutyh-Associated Polyposis

Drugs for Mutyh-Associated Polyposis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola
2 Antibodies
3 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Recruiting NCT02198092

Search NIH Clinical Center for Mutyh-Associated Polyposis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Mutyh-Associated Polyposis

Genetic tests related to Mutyh-Associated Polyposis:

# Genetic test Affiliating Genes
1 Myh-Associated Polyposis 29 MUTYH
2 Mutyh-Associated Polyposis 29

Anatomical Context for Mutyh-Associated Polyposis

MalaCards organs/tissues related to Mutyh-Associated Polyposis:

41
Colon, Testes, Prostate, Thyroid, Lung, Ovary, Pancreas

Publications for Mutyh-Associated Polyposis

Articles related to Mutyh-Associated Polyposis:

(show top 50) (show all 76)
# Title Authors Year
1
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. ( 29702101 )
2018
2
Phenotypic Variability of MUTYH-Associated Polyposis in Monozygotic Twins and Endoscopic Resection of A Giant Polyp in Pregnancy. ( 29610499 )
2018
3
Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify. ( 29766397 )
2018
4
Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. ( 28790112 )
2017
5
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. ( 28891849 )
2017
6
Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis. ( 29147111 )
2017
7
Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. ( 27870730 )
2016
8
MUTYH-Associated Polyposis: The Irish Experience>. ( 28644590 )
2016
9
Frequency and Features of Duodenal Adenomas in Patients WithA MUTYH-Associated Polyposis. ( 26905905 )
2016
10
An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report. ( 27014339 )
2016
11
Cap-assisted endoscopic mucosal resection of large nonampullary duodenal polyps in MYH-associated polyposis syndrome. ( 26551731 )
2016
12
The "Studded" Rectum: Phenotypic Evidence of MYH-Associated Polyposis. ( 27145315 )
2016
13
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. ( 26138249 )
2015
14
Somatic c.34G>T KRAS mutation: a new prescreening test forA MUTYH-associated polyposis? ( 26056087 )
2015
15
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. ( 26414517 )
2015
16
Establishing a diagnostic road map for MUTYH-associated polyposis. ( 24486588 )
2014
17
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. ( 24620956 )
2014
18
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). ( 24310308 )
2014
19
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. ( 24470512 )
2014
20
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. ( 23361220 )
2014
21
Identification of a patient with atypical MUTYH-associated polyposis through detection of the KRAS c.34G>T mutation in liver metastasis. ( 23341527 )
2013
22
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. ( 22865608 )
2013
23
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. ( 23599153 )
2013
24
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
25
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. ( 22744763 )
2012
26
Role of the microenvironment in the tumourigenesis of microsatellite unstable and MUTYH-associated polyposis colorectal cancers. ( 22294774 )
2012
27
MUTYH associated polyposis coli: one common and one rare mutation. ( 22402879 )
2012
28
Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis? ( 21846783 )
2012
29
French experts report on MUTYH-associated polyposis (MAP). ( 22538434 )
2012
30
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. ( 22876359 )
2012
31
Recurrent testicular germ cell tumors in a family with MYH-associated polyposis. ( 22711856 )
2012
32
Frequent mutation in North African patients with MUTYH-associated polyposis. ( 21443744 )
2011
33
Lynch syndrome and MYH-associated polyposis: review and testing strategy. ( 21325953 )
2011
34
MUTYH-associated polyposis (MAP). ( 20663686 )
2011
35
Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco. ( 20939750 )
2011
36
Bronchioloalveolar adenocarcinoma and pulmonary langerhans cell histiocytosis in a patient with MUTYH-associated polyposis. ( 21189386 )
2011
37
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). ( 22103048 )
2011
38
Map syndrome (MYH Associated Polyposis) colorectal cancer, etiopathological connections. ( 21505584 )
2011
39
Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP). ( 20625837 )
2010
40
Identifying mutations for MYH-associated polyposis. ( 20063264 )
2010
41
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. ( 21178863 )
2010
42
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. ( 20512164 )
2010
43
Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. ( 19672709 )
2010
44
Colorectal cancer survival advantage in MUTYH-associated polyposis and Lynch syndrome families. ( 21044965 )
2010
45
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. ( 21044966 )
2010
46
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. ( 20618354 )
2010
47
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. ( 19462419 )
2009
48
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. ( 19032956 )
2009
49
Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case. ( 19404084 )
2009
50
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. ( 19806110 )
2009

Variations for Mutyh-Associated Polyposis

ClinVar genetic disease variations for Mutyh-Associated Polyposis:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
2 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh38 Chromosome 1, 45332803: 45332803
3 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
4 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh38 Chromosome 1, 45331556: 45331556
5 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
6 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh38 Chromosome 1, 45332446: 45332446
7 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188
8 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh38 Chromosome 1, 45331515: 45331516
9 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh37 Chromosome 1, 45797507: 45797507
10 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh38 Chromosome 1, 45331835: 45331835
11 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Conflicting interpretations of pathogenicity rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
12 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Conflicting interpretations of pathogenicity rs587780751 GRCh38 Chromosome 1, 45332163: 45332163
13 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh38 Chromosome 1, 45332794: 45332794
14 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh37 Chromosome 1, 45798466: 45798466
15 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh37 Chromosome 1, 45799108: 45799108
16 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh38 Chromosome 1, 45333436: 45333436
17 MUTYH NM_001128425.1(MUTYH): c.1477G> T (p.Val493Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587782228 GRCh38 Chromosome 1, 45330557: 45330557
18 MUTYH NM_001128425.1(MUTYH): c.1477G> T (p.Val493Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587782228 GRCh37 Chromosome 1, 45796229: 45796229
19 MUTYH NM_001128425.1(MUTYH): c.389-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
20 MUTYH NM_001128425.1(MUTYH): c.389-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh38 Chromosome 1, 45333171: 45333171
21 MUTYH NM_001128425.1(MUTYH): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376790729 GRCh37 Chromosome 1, 45796895: 45796895
22 MUTYH NM_001128425.1(MUTYH): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376790729 GRCh38 Chromosome 1, 45331223: 45331223
23 MUTYH NM_001128425.1(MUTYH): c.1163T> C (p.Leu388Pro) single nucleotide variant Likely pathogenic rs1060501335 GRCh37 Chromosome 1, 45797356: 45797356
24 MUTYH NM_001128425.1(MUTYH): c.1163T> C (p.Leu388Pro) single nucleotide variant Likely pathogenic rs1060501335 GRCh38 Chromosome 1, 45331684: 45331684
25 MUTYH NM_001128425.1(MUTYH): c.508delG (p.Val170Terfs) deletion Likely pathogenic GRCh37 Chromosome 1, 45798503: 45798503
26 MUTYH NM_001128425.1(MUTYH): c.508delG (p.Val170Terfs) deletion Likely pathogenic GRCh38 Chromosome 1, 45332831: 45332831

Expression for Mutyh-Associated Polyposis

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

Pathways for Mutyh-Associated Polyposis

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

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 APC SMAD4 TP53
2
Show member pathways
12.5 APC KRAS SMAD4 TP53
3 12.43 APC KRAS SMAD4 TP53
4
Show member pathways
12.4 APC KRAS TP53
5
Show member pathways
12.29 APC KRAS SMAD4 TP53
6
Show member pathways
12.23 KRAS SMAD4 TP53
7
Show member pathways
12.23 APC SMAD4 TP53
8 12.18 APC KRAS TP53
9
Show member pathways
12.15 APC KRAS TP53
10 12.03 APC SMAD4 TP53
11 11.96 APC KRAS SMAD4 TP53
12 11.84 KRAS SMAD4 TP53
13 11.75 APC KRAS SMAD4
14 11.59 APC KRAS TP53
15 11.56 MT-CO2 TP53
16 11.53 SMAD4 TP53
17 11.51 APC MT-CO2
18 11.47 KRAS TP53
19 11.47 APC KRAS SMAD4 TP53
20 11.42 KRAS TP53
21 11.41 KRAS TP53
22 11.32 APC TP53
23 11.28 SMAD4 TP53
24 11.18 SMAD4 TP53
25 11.1 APC TP53
26 10.98 APC KRAS SMAD4 TP53
27 10.81 APC KRAS SMAD4

GO Terms for Mutyh-Associated Polyposis

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 KRAS MT-CO2 MUTYH TP53

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.5 APC MUTYH TP53
2 negative regulation of cell proliferation GO:0008285 9.33 APC SMAD4 TP53
3 Ras protein signal transduction GO:0007265 9.26 KRAS TP53
4 base-excision repair GO:0006284 8.96 MUTYH TP53
5 protein deubiquitination GO:0016579 8.8 APC SMAD4 TP53

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 MT-CO2 TP53
2 RNA polymerase II transcription factor binding GO:0001085 8.62 SMAD4 TP53

Sources for Mutyh-Associated Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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