MAP
MCID: MTY003
MIFTS: 30

Mutyh Polyposis (MAP)

Aliases & Classifications for Mutyh Polyposis

MalaCards integrated aliases for Mutyh Polyposis:

Name: Mutyh Polyposis 25
Mutyh-Associated Polyposis 25 6 17
Multiple Colorectal Adenomas, Autosomal Recessive 25
Map 25

External Ids:

Summaries for Mutyh Polyposis

MalaCards based summary : Mutyh Polyposis, also known as mutyh-associated polyposis, is related to corneal dystrophy, epithelial basement membrane and familial adenomatous polyposis. An important gene associated with Mutyh Polyposis is MUTYH (MutY DNA Glycosylase). The drugs Mineral oil and Cola have been mentioned in the context of this disorder. Affiliated tissues include colon.

Wikipedia : 74 MUTYH-associated polyposis (also known as MYH-associated polyposis) is an autosomal recessive polyposis... more...

GeneReviews: NBK107219

Related Diseases for Mutyh Polyposis

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

(show top 50) (show all 1628)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, epithelial basement membrane 11.6
2 familial adenomatous polyposis 11.3
3 geographic tongue 11.0
4 ataxia-telangiectasia 10.9
5 apraxia 10.9
6 erythrokeratodermia variabilis et progressiva 1 10.9
7 mccune-albright syndrome 10.9
8 marinesco-sjogren syndrome 10.9
9 synesthesia 10.9
10 autosomal recessive alport syndrome 10.9
11 colorectal adenoma 10.6
12 benign idiopathic neonatal seizures 10.5
13 pertussis 10.5
14 lynch syndrome 10.4
15 neuroblastoma 10.3
16 autosomal recessive disease 10.3
17 attenuated familial adenomatous polyposis 10.3
18 proteasome-associated autoinflammatory syndrome 1 10.3
19 muscular dystrophy 10.3
20 rapidly involuting congenital hemangioma 10.3
21 colorectal cancer 10.3
22 malaria 10.3
23 herpes simplex 10.3
24 cytokine deficiency 10.3
25 hypoxia 10.3
26 down syndrome 10.3
27 helix syndrome 10.3
28 glioma 10.2
29 glioblastoma 10.2
30 melanoma 10.2
31 glial tumor 10.2
32 triiodothyronine receptor auxiliary protein 10.2
33 pheochromocytoma 10.2
34 insulin-like growth factor i 10.2
35 adrenal gland pheochromocytoma 10.2
36 crohn's disease 10.2
37 intussusception 10.2
38 adenocarcinoma 10.2
39 familial colorectal cancer 10.2
40 papillomatosis, confluent and reticulated 10.2
41 retinoblastoma 10.2
42 lung cancer 10.2
43 disease by infectious agent 10.2
44 cholera 10.2
45 polykaryocytosis inducer 10.2
46 pancreatic cancer 10.2
47 47,xyy 10.2
48 haemophilus influenzae 10.2
49 hair whorl 10.2
50 branchiootic syndrome 1 10.2

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



Diseases related to Mutyh Polyposis

Symptoms & Phenotypes for Mutyh Polyposis

Drugs & Therapeutics for Mutyh Polyposis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mineral oil Approved, Vet_approved 8042-47-5
2 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis Recruiting NCT03847532

Search NIH Clinical Center for Mutyh Polyposis

Genetic Tests for Mutyh Polyposis

Anatomical Context for Mutyh Polyposis

MalaCards organs/tissues related to Mutyh Polyposis:

40
Colon

Publications for Mutyh Polyposis

Articles related to Mutyh Polyposis:

(show top 50) (show all 247)
# Title Authors PMID Year
1
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. 25 6
21815886 2011
2
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 6 25
12606733 2003
3
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 6 25
11818965 2002
4
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy. 61 25
31527860 2020
5
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis. 61 25
30604180 2019
6
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. 25 61
29702101 2018
7
Phenotypic Variability of MUTYH-Associated Polyposis in Monozygotic Twins and Endoscopic Resection of A Giant Polyp in Pregnancy. 25 61
29610499 2018
8
Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy. 25 61
30564557 2018
9
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. 61 25
28891849 2017
10
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 61 25
28551381 2017
11
Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine. 25 61
28087410 2017
12
Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. 61 25
28127763 2017
13
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 25 61
27829682 2017
14
Frequency and Features of Duodenal Adenomas in Patients With MUTYH-Associated Polyposis. 25 61
26905905 2016
15
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. 25 61
26414517 2016
16
Somatic c.34G>T KRAS mutation: a new prescreening test for MUTYH-associated polyposis? 25 61
26056087 2015
17
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. 61 25
24620956 2015
18
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 61 25
25645574 2015
19
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. 25 61
24953332 2014
20
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. 25 61
24470512 2014
21
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 25 61
22744763 2012
22
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report. 25 61
21962078 2011
23
MUTYH-associated polyposis (MAP). 61 25
20663686 2011
24
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. 25 61
21044966 2010
25
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. 61 25
20618354 2010
26
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. 61 25
19462419 2009
27
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 61 25
19394335 2009
28
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. 61 25
19527492 2009
29
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 61 25
19032956 2009
30
MUTYH-associated polyposis. 61 25
19414147 2009
31
High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas. 25 61
18506705 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. 61 25
18172263 2008
33
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. 6
17956577 2007
34
Duodenal carcinoma in MUTYH-associated polyposis. 25 61
16943222 2006
35
A kindred with MYH-associated polyposis and pilomatricomas. 6
15690400 2005
36
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 6
12393807 2002
37
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. 25
31406321 2020
38
Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-Associated Genes in Patients With Multiple Colorectal Polyps. 25
30557735 2019
39
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study. 25
30640315 2019
40
Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort. 25
30582135 2019
41
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. 25
30753826 2019
42
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors. 25
28634180 2017
43
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. 25
28242209 2017
44
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 25
27978560 2017
45
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. 25
27799157 2017
46
Whole-genome landscape of pancreatic neuroendocrine tumours. 25
28199314 2017
47
Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 25
27194394 2016
48
The "Studded" Rectum: Phenotypic Evidence of MYH-Associated Polyposis. 25
27145315 2016
49
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. 25
26028255 2015
50
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 25
25938944 2015

Variations for Mutyh Polyposis

ClinVar genetic disease variations for Mutyh Polyposis:

6 (show top 50) (show all 929)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MUTYH NM_012222.2(MUTYH):c.1452del (p.Thr485fs) Deletion Pathogenic 5295 rs146331482 1:45796869-45796869 1:45331197-45331197
2 MUTYH NM_001128425.1(MUTYH):c.348+33_*210delinsTA Indel Pathogenic 30441 1:45794768-45799052 1:45329096-45333380
3 MUTYH NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp) SNV Pathogenic 41041 rs200844166 1:45796912-45796912 1:45331240-45331240
4 MUTYH NM_001048171.1(MUTYH):c.1105del (p.Ala371fs) Deletion Pathogenic 134860 rs587778536 1:45797372-45797372 1:45331700-45331700
5 MUTYH NM_001128425.1(MUTYH):c.1214_1224del (p.Pro405fs) Deletion Pathogenic 216080 rs863224501 1:45797191-45797201 1:45331519-45331529
6 MUTYH NM_001128425.1(MUTYH):c.389-2A>G SNV Pathogenic 215998 rs863224452 1:45798844-45798844 1:45333172-45333172
7 MUTYH NM_001128425.1(MUTYH):c.799C>T (p.Gln267Ter) SNV Pathogenic 186651 rs786203115 1:45797972-45797972 1:45332300-45332300
8 MUTYH NC_000001.11:g.(?_45329306)_(45333324_?)del Deletion Pathogenic 437842 1:45794978-45798996 1:45329306-45333324
9 MUTYH NM_001128425.1(MUTYH):c.1474A>T (p.Lys492Ter) SNV Pathogenic 216081 rs863224502 1:45796856-45796856 1:45331184-45331184
10 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) SNV Pathogenic 127845 rs587780088 1:45800165-45800165 1:45334493-45334493
11 MUTYH NM_001128425.1(MUTYH):c.470C>T (p.Pro157Leu) SNV Pathogenic 185653 rs777184451 1:45798624-45798624 1:45332952-45332952
12 MUTYH NM_001048174.2(MUTYH):c.305-1G>C SNV Pathogenic 234229 rs372267274 1:45798843-45798843 1:45333171-45333171
13 MUTYH NM_001293192.1(MUTYH):c.-28dup Duplication Pathogenic 238345 rs878854189 1:45799099-45799100 1:45333427-45333428
14 MUTYH NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) SNV Pathogenic 156509 rs587783057 1:45797348-45797348 1:45331676-45331676
15 MUTYH NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter) SNV Pathogenic 406830 rs1060501325 1:45797134-45797134 1:45331462-45331462
16 MUTYH NM_001293192.1(MUTYH):c.-153del Deletion Pathogenic 406847 rs1060501336 1:45800118-45800118 1:45334446-45334446
17 MUTYH NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp) Duplication Pathogenic 233094 rs876660190 1:45798772-45798773 1:45333100-45333101
18 MUTYH NM_001128425.1(MUTYH):c.1267G>T (p.Glu423Ter) SNV Pathogenic 406823 rs1060501321 1:45797148-45797148 1:45331476-45331476
19 MUTYH NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter) SNV Pathogenic 127835 rs587780082 1:45797507-45797507 1:45331835-45331835
20 MUTYH NM_001128425.1(MUTYH):c.1240C>T (p.Gln414Ter) SNV Pathogenic 406824 rs766420907 1:45797175-45797175 1:45331503-45331503
21 MUTYH NM_001128425.1(MUTYH):c.389-1G>A SNV Pathogenic 186819 rs372267274 1:45798843-45798843 1:45333171-45333171
22 MUTYH NM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter) SNV Pathogenic 140827 rs138775799 1:45799144-45799144 1:45333472-45333472
23 MUTYH NM_001350650.1(MUTYH):c.33+119_33+132dup Duplication Pathogenic 406838 rs1553129652 1:45798824-45798825 1:45333152-45333153
24 MUTYH NM_001128425.1(MUTYH):c.586G>T (p.Glu196Ter) SNV Pathogenic 406822 rs745921592 1:45798350-45798350 1:45332678-45332678
25 MUTYH NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter) SNV Pathogenic 143003 rs587782885 1:45798112-45798112 1:45332440-45332440
26 MUTYH NM_012222.2(MUTYH):c.725G>A (p.Arg242His) SNV Pathogenic 140877 rs140342925 1:45798117-45798117 1:45332445-45332445
27 MUTYH NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter) SNV Pathogenic 140876 rs587781338 1:45797752-45797752 1:45332080-45332080
28 MUTYH NM_001128425.1(MUTYH):c.37-1317_667del Deletion Pathogenic 464717 1:45798269-45801500 1:45332597-45335828
29 MUTYH NM_001350650.1(MUTYH):c.33+147del Deletion Pathogenic 464719 rs1553129638 1:45798810-45798810 1:45333138-45333138
30 MUTYH NM_012222.2(MUTYH):c.1347del (p.Tyr450fs) Deletion Pathogenic 464690 rs1553125243 1:45796974-45796974 1:45331302-45331302
31 MUTYH NM_001128425.1(MUTYH):c.628C>T (p.Gln210Ter) SNV Pathogenic 233460 rs376561094 1:45798308-45798308 1:45332636-45332636
32 MUTYH NM_012222.2(MUTYH):c.800delinsAG (p.Val267fs) Indel Pathogenic 533305 rs1553127825 1:45797962-45797962 1:45332290-45332290
33 MUTYH NM_012222.2(MUTYH):c.1271_1280del (p.Trp424fs) Deletion Pathogenic 533306 rs1553125677 1:45797126-45797135 1:45331454-45331463
34 MUTYH NM_001293192.1(MUTYH):c.-164del Deletion Pathogenic 141379 rs587781704 1:45800129-45800129 1:45334457-45334457
35 MUTYH NM_012222.2(MUTYH):c.1015_1037del (p.Cys339fs) Deletion Pathogenic 533319 rs1553126848 1:45797473-45797495 1:45331801-45331823
36 MUTYH NC_000001.11:g.(?_45332568)_(45334517_?)del Deletion Pathogenic 533332 1:45798240-45800189 1:45332568-45334517
37 MUTYH NC_000001.11:g.(?_45329300)_(45333609_?)del Deletion Pathogenic 533333 1:45794972-45799281 1:45329300-45333609
38 MUTYH NM_001128425.1(MUTYH):c.789G>A (p.Trp263Ter) SNV Pathogenic 565890 rs1338038953 1:45797982-45797982 1:45332310-45332310
39 MUTYH NM_012222.2(MUTYH):c.1092dup (p.Arg365fs) Duplication Pathogenic 185770 rs768130289 1:45797417-45797418 1:45331745-45331746
40 MUTYH NM_001128425.1(MUTYH):c.971C>A (p.Ser324Ter) SNV Pathogenic 569689 rs558173961 1:45797721-45797721 1:45332049-45332049
41 MUTYH NM_012222.2(MUTYH):c.1312del (p.Glu438fs) Deletion Pathogenic 421975 rs1064795480 1:45797094-45797094 1:45331422-45331422
42 MUTYH NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter) SNV Pathogenic 485909 rs1553130185 1:45799125-45799125 1:45333453-45333453
43 MUTYH NM_001128425.1(MUTYH):c.688C>T (p.Gln230Ter) SNV Pathogenic 423786 rs1064796630 1:45798248-45798248 1:45332576-45332576
44 MUTYH NM_001128425.1(MUTYH):c.463A>T (p.Lys155Ter) SNV Pathogenic 234000 rs876660787 1:45798631-45798631 1:45332959-45332959
45 MUTYH NM_001048174.2(MUTYH):c.1103-2A>G SNV Pathogenic 141282 rs587781628 1:45797230-45797230 1:45331558-45331558
46 MUTYH NM_001048174.2(MUTYH):c.305-1G>C SNV Pathogenic 234229 rs372267274 1:45798843-45798843 1:45333171-45333171
47 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) SNV Pathogenic 127845 rs587780088 1:45800165-45800165 1:45334493-45334493
48 MUTYH NM_001128425.1(MUTYH):c.178G>T (p.Glu60Ter) SNV Pathogenic 582666 rs1557487793 1:45799255-45799255 1:45333583-45333583
49 MUTYH NM_012222.2(MUTYH):c.1501_1508delinsCCAACAGCCCA (p.Thr501_Met503delinsProThrAlaGln) Indel Pathogenic 587356 rs1557451154 1:45796189-45796196 1:45330517-45330524
50 MUTYH NC_000001.11:g.(?_45329296)_(45333334_?)del Deletion Pathogenic 639376 1:45794968-45799006 1:45329296-45333334

Expression for Mutyh Polyposis

Search GEO for disease gene expression data for Mutyh Polyposis.

Pathways for Mutyh Polyposis

GO Terms for Mutyh Polyposis

Sources for Mutyh Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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