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MAP
MCID: MTY003
MIFTS: 29

Mutyh Polyposis (MAP)

Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Mutyh Polyposis

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MalaCards integrated aliases for Mutyh Polyposis:

Name: Mutyh Polyposis 24
Mutyh-Associated Polyposis 24 29 6 17
Multiple Colorectal Adenomas, Autosomal Recessive 24
Map 24

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Summaries for Mutyh Polyposis

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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 thyroid, heart and bone.

GeneReviews: NBK107219
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Related Diseases for Mutyh Polyposis

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

(show top 50) (show all 4314)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, epithelial basement membrane 12.2
2 familial adenomatous polyposis 12.0
3 nystagmus 1, congenital, x-linked 11.5
4 fibrosis of extraocular muscles, congenital, 1 11.4
5 convulsions, familial infantile, with paroxysmal choreoathetosis 11.4
6 atrial fibrillation 11.4
7 muscular dystrophy, duchenne type 11.3
8 migraine with or without aura 1 11.3
9 ataxia-telangiectasia 11.3
10 celiac disease 1 11.3
11 apraxia 11.3
12 nephronophthisis 11.3
13 angelman syndrome 11.3
14 prader-willi syndrome 11.3
15 erythrokeratoderma ''en cocardes'' 11.3
16 combined t cell and b cell immunodeficiency 11.3
17 chromosome 5q deletion syndrome 11.3
18 epilepsy, idiopathic generalized 11.3
19 body mass index quantitative trait locus 1 11.3
20 episodic kinesigenic dyskinesia 1 11.3
21 telangiectasia, hereditary hemorrhagic, type 1 11.3
22 febrile seizures, familial, 1 11.3
23 albinism-deafness syndrome 11.3
24 charcot-marie-tooth disease, x-linked dominant, 1 11.3
25 acropectorovertebral dysplasia 11.3
26 erythrokeratodermia variabilis et progressiva 1 11.3
27 fibromatosis, gingival, 1 11.3
28 marinesco-sjogren syndrome 11.3
29 malignant atrophic papulosis 11.3
30 thyroid carcinoma, nonmedullary, with or without cell oxyphilia 11.3
31 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.3
32 mental retardation smith fineman myers type 11.3
33 angioma serpiginosum, autosomal dominant 11.3
34 cerebellar ataxia, early-onset, with retained tendon reflexes 11.3
35 spastic paraplegia 23, autosomal recessive 11.3
36 bazex syndrome 11.3
37 waardenburg syndrome, type 2b 11.3
38 frontotemporal dementia, chromosome 3-linked 11.3
39 seizures, benign familial infantile, 1 11.3
40 waardenburg syndrome, type 2c 11.3
41 spinocerebellar ataxia 21 11.3
42 spinocerebellar ataxia 25 11.3
43 syndactyly, mesoaxial synostotic, with phalangeal reduction 11.3
44 spinocerebellar ataxia 23 11.3
45 bullous dystrophy hereditary macular type 11.3
46 spastic paraplegia 32 11.3
47 geographic tongue 11.1
48 zimmermann-laband syndrome 1 10.9
49 hypertrichosis universalis congenita, ambras type 10.9
50 palmoplantar keratoderma, punctate type ia 10.9

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



Diseases related to Mutyh Polyposis
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Symptoms & Phenotypes for Mutyh Polyposis

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Drugs & Therapeutics for Mutyh Polyposis

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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

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Genetic Tests for Mutyh Polyposis

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Genetic tests related to Mutyh Polyposis:

# Genetic test Affiliating Genes
1 Mutyh-Associated Polyposis 29
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Anatomical Context for Mutyh Polyposis

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MalaCards organs/tissues related to Mutyh Polyposis:

40
Thyroid, Heart, Bone, Brain, Breast, Kidney, Skin
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Publications for Mutyh Polyposis

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Articles related to Mutyh Polyposis:

(show top 50) (show all 227)
# Title Authors PMID Year
1
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy. 61 24
31527860 2020
2
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis. 61 24
30604180 2019
3
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. 61 24
29702101 2018
4
Phenotypic Variability of MUTYH-Associated Polyposis in Monozygotic Twins and Endoscopic Resection of A Giant Polyp in Pregnancy. 61 24
29610499 2018
5
Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy. 61 24
30564557 2018
6
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. 61 24
28891849 2017
7
Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine. 61 24
28087410 2017
8
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 61 24
28551381 2017
9
Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. 61 24
28127763 2017
10
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 61 24
27829682 2017
11
Frequency and Features of Duodenal Adenomas in Patients With MUTYH-Associated Polyposis. 61 24
26905905 2016
12
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. 61 24
26414517 2016
13
Somatic c.34G>T KRAS mutation: a new prescreening test for MUTYH-associated polyposis? 61 24
26056087 2015
14
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. 61 24
24620956 2015
15
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 61 24
25645574 2015
16
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. 61 24
24953332 2014
17
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. 61 24
24470512 2014
18
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 61 24
22744763 2012
19
Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report. 61 24
21962078 2011
20
MUTYH-associated polyposis (MAP). 61 24
20663686 2011
21
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. 61 24
21044966 2010
22
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. 61 24
20618354 2010
23
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. 61 24
19462419 2009
24
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 61 24
19394335 2009
25
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. 61 24
19527492 2009
26
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 61 24
19032956 2009
27
MUTYH-associated polyposis. 61 24
19414147 2009
28
High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas. 61 24
18506705 2008
29
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 24
18172263 2008
30
Duodenal carcinoma in MUTYH-associated polyposis. 61 24
16943222 2006
31
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. 24
31406321 2020
32
Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-Associated Genes in Patients With Multiple Colorectal Polyps. 24
30557735 2019
33
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study. 24
30640315 2019
34
Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort. 24
30582135 2019
35
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. 24
30753826 2019
36
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors. 24
28634180 2017
37
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance. 24
28242209 2017
38
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 24
27978560 2017
39
Whole-genome landscape of pancreatic neuroendocrine tumours. 24
28199314 2017
40
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. 24
27799157 2017
41
Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 24
27194394 2016
42
The "Studded" Rectum: Phenotypic Evidence of MYH-Associated Polyposis. 24
27145315 2016
43
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 24
25938944 2015
44
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. 24
26028255 2015
45
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology clinical practice guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology clinical practice guidelines. 24
25829526 2015
46
Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. 24
22851115 2012
47
MUTYH gene variants and breast cancer in a Dutch case–control study. 24
22297469 2012
48
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. 24
21815886 2011
49
Leiden Open Variation Database of the MUTYH gene. 24
20725929 2010
50
MYH-associated disease: attenuated adenomatous polyposis of the colon is only part of the story. 24
19879216 2009
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Variations for Mutyh Polyposis

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ClinVar genetic disease variations for Mutyh Polyposis:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MUTYH NM_001128425.1(MUTYH):c.545G>A (p.Arg182His)SNV Pathogenic 182689 rs143353451 1:45798466-45798466 1:45332794-45332794
2 MUTYH NM_001048171.1(MUTYH):c.270C>A (p.Tyr90Ter)SNV Pathogenic 5296 rs121908380 1:45799121-45799121 1:45333449-45333449
3 MUTYH NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter)SNV Pathogenic 127835 rs587780082 1:45797507-45797507 1:45331835-45331835
4 MUTYH NM_012222.2(MUTYH):c.1425_1427GGA[1] (p.Glu477del)short repeat Pathogenic 127838 rs587778541 1:45796891-45796893 1:45331219-45331221
5 MUTYH NM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter)SNV Pathogenic 140827 rs138775799 1:45799144-45799144 1:45333472-45333472
6 MUTYH NM_001048171.1(MUTYH):c.692G>A (p.Arg231His)SNV Pathogenic/Likely pathogenic 140877 rs140342925 1:45798117-45798117 1:45332445-45332445
7 MUTYH NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter)SNV Pathogenic/Likely pathogenic 238337 rs376790729 1:45796895-45796895 1:45331223-45331223
8 MUTYH NM_012222.2(MUTYH):c.1138del (p.Ala382fs)deletion Pathogenic/Likely pathogenic 134860 rs587778536 1:45797372-45797372 1:45331700-45331700
9 MUTYH NM_012222.2(MUTYH):c.724C>T (p.Arg242Cys)SNV Pathogenic/Likely pathogenic 41761 rs200495564 1:45798118-45798118 1:45332446-45332446
10 MUTYH NM_012222.2(MUTYH):c.1218_1219dup (p.Glu407fs)duplication Pathogenic/Likely pathogenic 127831 rs587780078 1:45797186-45797187 1:45331514-45331515
11 MUTYH NM_001048171.1(MUTYH):c.283C>T (p.Arg95Trp)SNV Pathogenic/Likely pathogenic 183896 rs765123255 1:45799108-45799108 1:45333436-45333436
12 MUTYH NM_001048171.1(MUTYH):c.1435G>T (p.Val479Phe)SNV Pathogenic/Likely pathogenic 219953 rs587782228 1:45796229-45796229 1:45330557-45330557
13 MUTYH NM_001048171.1(MUTYH):c.347-1G>CSNV Pathogenic/Likely pathogenic 234229 rs372267274 1:45798843-45798843 1:45333171-45333171
14 MUTYH NM_012222.2(MUTYH):c.527A>G (p.Tyr176Cys)SNV Pathogenic/Likely pathogenic 5293 rs34612342 1:45798475-45798475 1:45332803-45332803
15 MUTYH NM_012222.2(MUTYH):c.1178G>A (p.Gly393Asp)SNV Pathogenic/Likely pathogenic 5294 rs36053993 1:45797228-45797228 1:45331556-45331556
16 MUTYH NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu)SNV Pathogenic/Likely pathogenic 182691 rs730881833 1:45797914-45797914 1:45332242-45332242
17 MUTYH NM_001128425.1(MUTYH):c.393G>A (p.Trp131Ter)SNV Pathogenic/Likely pathogenic 140811 rs587781295 1:45798838-45798838 1:45333166-45333166
18 MUTYH NM_001293192.1(MUTYH):c.-97-64deldeletion Pathogenic/Likely pathogenic 419735 rs746449748 1:45799233-45799233 1:45333561-45333561
19 MUTYH NM_001128425.1(MUTYH):c.338G>A (p.Trp113Ter)SNV Pathogenic/Likely pathogenic 630488 rs888691362 1:45799095-45799095 1:45333423-45333423
20 MUTYH NM_012222.2(MUTYH):c.499del (p.Glu166_Val167insTer)deletion Likely pathogenic 496103 rs1553129062 1:45798503-45798503 1:45332831-45332831
21 MUTYH NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg)SNV Conflicting interpretations of pathogenicity 182688 rs730881832 1:45798840-45798840 1:45333168-45333168
22 MUTYH NM_001048171.1(MUTYH):c.891+3A>CSNV Conflicting interpretations of pathogenicity 135992 rs587780751 1:45797835-45797835 1:45332163-45332163
23 MUTYH NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro)SNV Conflicting interpretations of pathogenicity 406845 rs1060501335 1:45797356-45797356 1:45331684-45331684
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Expression for Mutyh Polyposis

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Search GEO for disease gene expression data for Mutyh Polyposis.
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Pathways for Mutyh Polyposis

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GO Terms for Mutyh Polyposis

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Sources for Mutyh Polyposis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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