MCID: MTY001
MIFTS: 48

Mutyh-Associated Polyposis

Categories: Rare diseases, Genetic 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:

UMLS 73 C3272841

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 polyposis syndrome, hereditary mixed, 1, 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 Endometrial cancer and Pathways in cancer. The drugs Erythromycin and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and endothelial, 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 79)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 31.3 APC KRAS MUTYH TP53
2 polyposis syndrome, hereditary mixed, 1 30.5 APC MUTYH
3 attenuated familial adenomatous polyposis 30.5 APC MUTYH
4 thyroid cancer 29.1 APC KRAS TP53
5 colorectal adenoma 29.0 APC KRAS MUTYH TP53
6 lynch syndrome 29.0 APC KRAS MUTYH TP53
7 adenocarcinoma 28.0 APC KRAS SMAD4 TP53
8 adenoma 27.9 APC KRAS MUTYH SMAD4 TP53
9 colorectal cancer 27.6 APC KRAS MUTYH SMAD4 TP53
10 pilomatrixoma 11.6
11 familial adenomatous polyposis 2 11.6
12 duodenum cancer 10.4 KRAS MUTYH
13 small intestine cancer 10.4 KRAS MUTYH
14 rare adenocarcinoma of the breast 10.3 KRAS TP53
15 periampullary adenoma 10.3 APC KRAS
16 nasal cavity adenocarcinoma 10.3 KRAS TP53
17 mature teratoma 10.3 KRAS TP53
18 pulmonary blastoma 10.3 KRAS TP53
19 biliary papillomatosis 10.3 KRAS TP53
20 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.3 KRAS TP53
21 mixed cell type cancer 10.3 KRAS TP53
22 ovary adenocarcinoma 10.3 KRAS TP53
23 liver angiosarcoma 10.3 KRAS TP53
24 pseudomyxoma peritonei 10.3 KRAS TP53
25 barrett's adenocarcinoma 10.2 KRAS TP53
26 bile duct adenocarcinoma 10.2 KRAS TP53
27 colon adenoma 10.2 APC KRAS
28 ovarian clear cell carcinoma 10.2 KRAS TP53
29 anal squamous cell carcinoma 10.2 APC TP53
30 skin squamous cell carcinoma 10.2 KRAS TP53
31 lung benign neoplasm 10.2 KRAS TP53
32 duodenitis 10.2
33 ovarian cancer 1 10.2 KRAS TP53
34 malignant ovarian surface epithelial-stromal neoplasm 10.2 KRAS TP53
35 ovary epithelial cancer 10.2 KRAS TP53
36 adenosquamous carcinoma 10.1 KRAS TP53
37 endometrial adenocarcinoma 10.1 KRAS TP53
38 autosomal genetic disease 10.1 MUTYH TP53
39 colorectal adenocarcinoma 10.1 KRAS TP53
40 female reproductive organ cancer 10.0 KRAS TP53
41 respiratory system cancer 10.0 KRAS TP53
42 differentiated thyroid carcinoma 10.0 KRAS TP53
43 muir-torre syndrome 9.9
44 langerhans cell histiocytosis 9.9
45 in situ pulmonary adenocarcinoma 9.9
46 histiocytosis 9.9
47 thyroiditis 9.9
48 colloid carcinoma of the pancreas 9.9 KRAS SMAD4
49 adenosquamous pancreas carcinoma 9.9 KRAS SMAD4
50 intrahepatic cholangiocarcinoma 9.9 KRAS TP53

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 TP53 APC KRAS SMAD4
2 digestive/alimentary MP:0005381 9.71 SMAD4 TP53 APC KRAS
3 limbs/digits/tail MP:0005371 9.67 TP53 APC KRAS SMAD4
4 liver/biliary system MP:0005370 9.62 SMAD4 TP53 APC KRAS
5 muscle MP:0005369 9.56 SMAD4 TP53 APC KRAS
6 neoplasm MP:0002006 9.55 TP53 APC KRAS MUTYH SMAD4
7 pigmentation MP:0001186 9.13 TP53 APC KRAS
8 renal/urinary system MP:0005367 8.92 TP53 APC KRAS SMAD4

Drugs & Therapeutics for Mutyh-Associated Polyposis

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
3 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
4 Cyclooxygenase 2 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
9 Erythromycin Estolate Phase 4
10 Erythromycin Ethylsuccinate Phase 4
11 Erythromycin stearate Phase 4
12 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3,Phase 3 128-13-2 31401
17
Sulindac Approved, Investigational Phase 3,Phase 2 38194-50-2 5352 1548887
18
Celecoxib Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 169590-42-5 2662
19
Loperamide Approved Phase 3 53179-11-6 3955
20
Ornithine Approved, Nutraceutical Phase 3,Phase 2 70-26-8, 3184-13-2 6262
21 Cholagogues and Choleretics Phase 2, Phase 3,Phase 3
22 Antiparasitic Agents Phase 3,Phase 2
23 Antiprotozoal Agents Phase 3,Phase 2
24 Protective Agents Phase 2, Phase 3
25 Antidiarrheals Phase 3
26 Cola Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
27 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
28
Metformin Approved Phase 2 657-24-9 14219 4091
29
Curcumin Approved, Investigational Phase 2,Not Applicable 458-37-7 969516
30
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
31
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
32
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
33
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
34
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
35 Hypoglycemic Agents Phase 2
36
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
37 Retinol palmitate Phase 2
38 Turmeric extract Phase 2
39 Protein Kinase Inhibitors Phase 2
40 Antibiotics, Antitubercular Phase 2,Phase 1
41 Immunosuppressive Agents Phase 2,Phase 1
42 Antifungal Agents Phase 2,Phase 1
43 Antioxidants Phase 2
44 retinol Nutraceutical Phase 2
45 Turmeric Nutraceutical Phase 2
46
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
47
Bevacizumab Approved, Investigational Phase 1 216974-75-3
48 Raspberry Approved, Nutraceutical Phase 1
49 Fibrinolytic Agents Phase 1
50 Mitogens Phase 1

Interventional clinical trials:

(show top 50) (show all 77)
# Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4 Erythromycin
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Unknown status NCT02354560 Phase 4 Erythromycin
3 A Study of Rofecoxib in Familial Adenomatous Polyposis (FAP) (0966-205)(TERMINATED) Terminated NCT00140894 Phase 4 MK0966; rofecoxib / Duration of Treatment: 24 weeks;Comparator: placebo / Duration of Treatment: 24 weeks
4 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3 Ursodeoxycholic acid;Placebo
5 Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA Completed NCT00510692 Phase 2, Phase 3 Eicosapentanoic Acid (EPA);Placebo
6 Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis Completed NCT00808743 Phase 2, Phase 3 Celecoxib;Ursodeoxycholic acid;Placebo
7 Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps Completed NCT00005094 Phase 3 celecoxib
8 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
9 Primary Chemoprevention of Familial Adenomatous Polyposis With Berberine Hydrochloride Recruiting NCT03333265 Phase 2, Phase 3 100mg Berberine hydrochloride;300mg Berberine hydrochloride;Placebo Oral Tablet
10 Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP) Active, not recruiting NCT01483144 Phase 3 Eflornithine plus Sulindac;Eflornithine and Placebo;Sulindac and Placebo
11 Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) Terminated NCT00585312 Phase 3 Celecoxib;Placebo
12 Coxib-inhibition of Duodenal Polyp Growth in FAP Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
13 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
14 A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3 Eflornithine plus Sulindac;Eflornithine plus Placebo;Sulindac plus Placebo
15 Exisulind in Preventing Polyps in Patients With Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
16 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2 metformin
17 Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis Unknown status NCT00319007 Phase 2 Sulindac (drug);VSL#3 (probiotic);Inulin (probiotic)
18 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
19 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2 Curcumin
20 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Recruiting NCT02961374 Phase 2 Erlotinib Hydrochloride
21 Sirolimus and Familial Adenomatous Polyposis (FAP) Recruiting NCT03095703 Phase 2 Sirolimus
22 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
23 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
24 Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis. Not yet recruiting NCT03061591 Phase 2
25 Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous Polyposis Terminated NCT00033371 Phase 2 Celecoxib;eflornithine
26 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis Patients Withdrawn NCT00248053 Phase 2 curcumin
27 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
28 Lyophilized Black Raspberries in Adults With Familial Adenomatous Polyposis (FAP) Completed NCT00770991 Phase 1 Black raspberry (BRB) Slurry;Black Raspberry (BRB) Suppositories;Black Raspberry (BRB) Placebo Slurry
29 Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
30 A Pilot Open-Label Crossover Bioavailability Study of Celecoxib in Healthy Volunteers Completed NCT00813241 Phase 1 celecoxib reference formulation;celecoxib test formulation A1;celecoxib test formulation B2;celecoxib test formulation C1
31 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1 Acetylsalicylic acid
32 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP) Unknown status NCT02656134
33 Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard Endoscopy Unknown status NCT00253812 Not Applicable
34 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Not Applicable Triple therapy for H. pylori infection;Cox-2 inhibitor
35 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Not Applicable Calcumin (Curcumin)
36 Endoscopic Papillectomy for Ampullary Adenomas Completed NCT03494543
37 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250 Not Applicable
38 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
39 Dual Focus NBI and pCLE in FAP Related Duodenal Adenoma Completed NCT02162173 Not Applicable
40 Evaluation of Oesogastroduodenoscopy With Vision to 245 ° (Full Spectrum Endoscopy) to View the Main Disc and Accessory Completed NCT02859883
41 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
42 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
43 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953 Not Applicable
44 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
45 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
46 Single Incision Laparoscopic Surgery in Treating Patients With Colorectal Disease Completed NCT01656746 Not Applicable
47 Calcium/Vitamin D, Biomarkers & Colon Polyp Prevention Completed NCT00399607
48 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Recruiting NCT02198092
49 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
50 Endoscopic Evaluation of Duodenal Polyposis in Patients With Familial Adenomatous Polyposis (FAP) Recruiting NCT03346980

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, Endothelial, Prostate, Pancreas, Bone, Liver

Publications for Mutyh-Associated Polyposis

Articles related to Mutyh-Associated Polyposis:

(show top 50) (show all 70)
# 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
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. ( 26138249 )
2015
12
Somatic c.34G>T KRAS mutation: a new prescreening test forA MUTYH-associated polyposis? ( 26056087 )
2015
13
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. ( 26414517 )
2015
14
Establishing a diagnostic road map for MUTYH-associated polyposis. ( 24486588 )
2014
15
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. ( 24620956 )
2014
16
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). ( 24310308 )
2014
17
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. ( 24470512 )
2014
18
Identification of a patient with atypical MUTYH-associated polyposis through detection of the KRAS c.34G>T mutation in liver metastasis. ( 23341527 )
2013
19
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. ( 22865608 )
2013
20
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. ( 23599153 )
2013
21
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
22
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. ( 23361220 )
2013
23
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. ( 22744763 )
2012
24
Role of the microenvironment in the tumourigenesis of microsatellite unstable and MUTYH-associated polyposis colorectal cancers. ( 22294774 )
2012
25
MUTYH associated polyposis coli: one common and one rare mutation. ( 22402879 )
2012
26
Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis? ( 21846783 )
2012
27
French experts report on MUTYH-associated polyposis (MAP). ( 22538434 )
2012
28
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. ( 22876359 )
2012
29
Recurrent testicular germ cell tumors in a family with MYH-associated polyposis. ( 22711856 )
2012
30
Frequent mutation in North African patients with MUTYH-associated polyposis. ( 21443744 )
2011
31
Lynch syndrome and MYH-associated polyposis: review and testing strategy. ( 21325953 )
2011
32
MUTYH-associated polyposis (MAP). ( 20663686 )
2011
33
Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco. ( 20939750 )
2011
34
Bronchioloalveolar adenocarcinoma and pulmonary langerhans cell histiocytosis in a patient with MUTYH-associated polyposis. ( 21189386 )
2011
35
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). ( 22103048 )
2011
36
Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP). ( 20625837 )
2010
37
Identifying mutations for MYH-associated polyposis. ( 20063264 )
2010
38
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. ( 21178863 )
2010
39
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. ( 20512164 )
2010
40
Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. ( 19672709 )
2010
41
Colorectal cancer survival advantage in MUTYH-associated polyposis and Lynch syndrome families. ( 21044965 )
2010
42
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. ( 21044966 )
2010
43
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. ( 20618354 )
2010
44
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. ( 19462419 )
2009
45
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. ( 19032956 )
2009
46
Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case. ( 19404084 )
2009
47
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. ( 19806110 )
2009
48
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. ( 19527492 )
2009
49
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. ( 19732775 )
2009
50
MUTYH-associated polyposis and colorectal cancer. ( 19793568 )
2009

Variations for Mutyh-Associated Polyposis

ClinVar genetic disease variations for Mutyh-Associated Polyposis:

6
(show top 50) (show all 885)
# 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 rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
4 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic rs36053993 GRCh38 Chromosome 1, 45331556: 45331556
5 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh37 Chromosome 1, 45796869: 45796869
6 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh38 Chromosome 1, 45331197: 45331197
7 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
8 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh38 Chromosome 1, 45333449: 45333449
9 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh37 Chromosome 1, 45796892: 45796892
10 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh38 Chromosome 1, 45331220: 45331220
11 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
12 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh37 Chromosome 1, 45794768: 45799052
13 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
14 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh38 Chromosome 1, 45331240: 45331240
15 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
16 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh38 Chromosome 1, 45332446: 45332446
17 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188
18 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh38 Chromosome 1, 45331515: 45331516
19 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh37 Chromosome 1, 45797507: 45797507
20 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh38 Chromosome 1, 45331835: 45331835
21 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
22 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh38 Chromosome 1, 45331219: 45331221
23 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
24 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh38 Chromosome 1, 45334493: 45334493
25 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic/Likely pathogenic rs587778536 GRCh37 Chromosome 1, 45797372: 45797372
26 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic/Likely pathogenic rs587778536 GRCh38 Chromosome 1, 45331700: 45331700
27 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 GRCh37 Chromosome 1, 45799144: 45799144
28 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 GRCh38 Chromosome 1, 45333472: 45333472
29 MUTYH NM_001128425.1(MUTYH): c.1186+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781337 GRCh37 Chromosome 1, 45797332: 45797332
30 MUTYH NM_001128425.1(MUTYH): c.1186+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781337 GRCh38 Chromosome 1, 45331660: 45331660
31 MUTYH NM_001128425.1(MUTYH): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs587781338 GRCh37 Chromosome 1, 45797752: 45797752
32 MUTYH NM_001128425.1(MUTYH): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs587781338 GRCh38 Chromosome 1, 45332080: 45332080
33 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh37 Chromosome 1, 45798117: 45798117
34 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh38 Chromosome 1, 45332445: 45332445
35 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh37 Chromosome 1, 45797230: 45797230
36 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh38 Chromosome 1, 45331558: 45331558
37 MUTYH NM_001128425.1(MUTYH): c.91delG (p.Ala31Profs) deletion Pathogenic rs587781704 GRCh37 Chromosome 1, 45800129: 45800129
38 MUTYH NM_001128425.1(MUTYH): c.91delG (p.Ala31Profs) deletion Pathogenic rs587781704 GRCh38 Chromosome 1, 45334457: 45334457
39 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 GRCh37 Chromosome 1, 45797201: 45797201
40 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 GRCh38 Chromosome 1, 45331529: 45331529
41 MUTYH NM_001128425.1(MUTYH): c.504+2T> C single nucleotide variant Likely pathogenic rs587782730 GRCh37 Chromosome 1, 45798588: 45798588
42 MUTYH NM_001128425.1(MUTYH): c.504+2T> C single nucleotide variant Likely pathogenic rs587782730 GRCh38 Chromosome 1, 45332916: 45332916
43 MUTYH NM_001128425.1(MUTYH): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic rs587782885 GRCh37 Chromosome 1, 45798112: 45798112
44 MUTYH NM_001128425.1(MUTYH): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic rs587782885 GRCh38 Chromosome 1, 45332440: 45332440
45 MUTYH NM_001128425.1(MUTYH): c.1090C> T (p.Arg364Cys) single nucleotide variant Uncertain significance rs151316420 GRCh38 Chromosome 1, 45331757: 45331757
46 MUTYH NM_001128425.1(MUTYH): c.1090C> T (p.Arg364Cys) single nucleotide variant Uncertain significance rs151316420 GRCh37 Chromosome 1, 45797429: 45797429
47 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 GRCh38 Chromosome 1, 45331676: 45331676
48 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 GRCh37 Chromosome 1, 45797348: 45797348
49 MUTYH NM_001128425.1(MUTYH): c.1588G> T (p.Asp530Tyr) single nucleotide variant Uncertain significance rs147923905 GRCh38 Chromosome 1, 45329368: 45329368
50 MUTYH NM_001128425.1(MUTYH): c.1588G> T (p.Asp530Tyr) single nucleotide variant Uncertain significance rs147923905 GRCh37 Chromosome 1, 45795040: 45795040

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
12.5 APC KRAS SMAD4 TP53
2 12.43 APC KRAS SMAD4 TP53
3
Show member pathways
12.4 APC KRAS TP53
4
Show member pathways
12.29 APC KRAS SMAD4 TP53
5
Show member pathways
12.27 KRAS SMAD4 TP53
6
Show member pathways
12.23 KRAS SMAD4 TP53
7
Show member pathways
12.23 APC SMAD4 TP53
8 12.19 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 11.54 SMAD4 TP53
17 11.52 APC MT-CO2
18 11.48 KRAS TP53
19 11.47 APC KRAS SMAD4 TP53
20 11.42 KRAS TP53
21 11.42 KRAS TP53
22 11.32 APC TP53
23 11.29 SMAD4 TP53
24 11.18 SMAD4 TP53
25 11.09 APC TP53
26 10.98 APC KRAS SMAD4 TP53
27 10.81 APC KRAS SMAD4

GO Terms for Mutyh-Associated Polyposis

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 9.43 APC SMAD4 TP53
3 Ras protein signal transduction GO:0007265 9.37 KRAS TP53
4 cell proliferation GO:0008283 9.33 APC SMAD4 TP53
5 base-excision repair GO:0006284 8.96 MUTYH TP53
6 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 RNA polymerase II transcription factor binding GO:0001085 8.96 SMAD4 TP53
2 copper ion binding GO:0005507 8.62 MT-CO2 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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