MCID: MTY001
MIFTS: 49

Mutyh-Associated Polyposis malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Mutyh-Associated Polyposis

Aliases & Descriptions for Mutyh-Associated Polyposis:

Name: Mutyh-Associated Polyposis 23 24
Myh-Associated Polyposis 23 50 24 29
Colorectal Adenomatous Polyposis, Autosomal Recessive 23 24
Multiple Colorectal Adenomas, Autosomal Recessive 23 24
Autosomal Recessive Familial Adenomatous Polyposis 50
Autosomal Recessive Multiple Colorectal Adenomas 50
Adenomatous Polyposis Coli 69
Mutyh-Associate Polyposis 69
Map Syndrome 50

Characteristics:

GeneReviews:

23
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:



Summaries for Mutyh-Associated Polyposis

NIH Rare Diseases : 50 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 colorectal cancer and colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 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 Development HGF signaling pathway and Pathways in cancer. The drugs Erythromycin and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and liver, 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 71)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 29.3 APC KRAS MUTYH SMAD4 TP53
2 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 12.3
3 familial adenomatous polyposis 11.5
4 adenomas, multiple colorectal 11.4
5 adenoma 10.2
6 htr2a-related altered drug metabolism 10.2 APC MUTYH
7 hereditary sensory and autonomic neuropathy with deafness and global delay 10.2 APC MUTYH
8 autoimmune autonomic ganglionopathy 10.2 APC MUTYH
9 chronic venous insufficiency 10.1 APC KRAS
10 breast ductal carcinoma 10.1 KRAS TP53
11 adult syndrome 10.1 KRAS TP53
12 postpoliomyelitis syndrome 10.1 KRAS TP53
13 bone deterioration disease 10.1 KRAS TP53
14 inhibited male orgasm 10.1 KRAS TP53
15 exudative glomerulonephritis 10.1 KRAS TP53
16 giant cell tumor 10.1 KRAS TP53
17 uterine corpus endometrial stromal sarcoma 10.1 KRAS TP53
18 papillary adenofibroma 10.1 KRAS TP53
19 tabes dorsalis 10.1 KRAS TP53
20 endometrial squamous cell carcinoma 10.1 APC TP53
21 ossifying fibromyxoid tumor 10.1 KRAS TP53
22 arthus reaction 10.1 KRAS TP53
23 plasmacytoma 10.1 KRAS TP53
24 tamoxifen-related endometrial lesion 10.1 KRAS TP53
25 rectum adenoma 10.1 APC KRAS
26 retroperitoneal neuroblastoma 10.1 KRAS TP53
27 myxedema 10.1 KRAS TP53
28 allergic contact dermatitis 10.1 KRAS TP53
29 basophilic carcinoma 10.0 KRAS TP53
30 brachial plexus neuropathy 10.0 KRAS TP53
31 benign ependymoma 10.0 KRAS TP53
32 lynch syndrome 10.0
33 duodenitis 10.0
34 colorectal adenoma 10.0
35 extra-adrenal pheochromocytoma 10.0 KRAS TP53
36 bilateral hypoactive labyrinth 10.0 KRAS SMAD4
37 gastric cancer, somatic 10.0 APC KRAS MUTYH
38 hnrnpa1-related amyotrophic lateral sclerosis 10.0 APC KRAS MUTYH
39 advanced sleep phase syndrome 10.0 KRAS MUTYH TP53
40 congenital symblepharon 10.0 KRAS MUTYH TP53
41 vestibular gland benign neoplasm 10.0 KRAS MUTYH TP53
42 rectum sarcoma 10.0 KRAS MUTYH TP53
43 retina lymphoma 10.0 KRAS SMAD4
44 prostatic adenoma 10.0 KRAS TP53
45 asperger syndrome 10.0 APC MUTYH TP53
46 dental caries 9.9 KRAS TP53
47 placental site trophoblastic tumor 9.9 SMAD4 TP53
48 rhinitis 9.9 SMAD4 TP53
49 glycogen storage disease 9.9 APC KRAS TP53
50 histiocytosis 9.9

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
id 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:

44
id 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 SMAD4 TP53 APC KRAS

Drugs & Therapeutics for Mutyh-Associated Polyposis

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

(show top 50) (show all 71)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
2
Celecoxib Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 169590-42-5 2662
3 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
4 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
5 Cyclooxygenase 2 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
6 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
7 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
8 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Erythromycin Estolate Phase 4
10 Erythromycin Ethylsuccinate Phase 4
11 Erythromycin stearate Phase 4
12 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
13 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
15 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1
16 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
17
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
18
Sulindac Approved Phase 3,Phase 2 38194-50-2 5352 1548887
19
Loperamide Approved Phase 3 53179-11-6 3955
20 Cholagogues and Choleretics Phase 2, Phase 3
21 Antidiarrheals Phase 3
22 Antiparasitic Agents Phase 3,Phase 2
23 Antiprotozoal Agents Phase 3,Phase 2
24 Protective Agents Phase 2, Phase 3
25 Cola Nutraceutical Phase 2, Phase 3, Phase 1
26 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
27
Ornithine Nutraceutical Phase 3,Phase 2 3184-13-2 6262 389
28
Metformin Approved Phase 2 657-24-9 14219 4091
29
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
30
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
31
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
32
Inulin Approved, Nutraceutical Phase 2 9005-80-5 24763
33
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
34 Hypoglycemic Agents Phase 2
35
Curcumin Phase 2 458-37-7 969516
36
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
37 Turmeric extract Phase 2
38 Protein Kinase Inhibitors Phase 2
39 Retinol palmitate Phase 2
40 Immunosuppressive Agents Phase 2,Phase 1
41 Antifungal Agents Phase 2,Phase 1
42 Antibiotics, Antitubercular 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 Mitogens Phase 1
49 Angiogenesis Inhibitors Phase 1
50 Angiogenesis Modulating Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 68)
id Name Status NCT ID Phase
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Not yet recruiting NCT02354560 Phase 4
3 A Study of Rofecoxib in Familial Adenomatous Polyposis (FAP) Terminated NCT00140894 Phase 4
4 Observational Familial Adenomatous Polyposis Registry Study In Patients Receiving Celecoxib Compared to Control Patients Terminated NCT00151476 Phase 4
5 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3
6 Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA Completed NCT00510692 Phase 2, Phase 3
7 Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis Completed NCT00808743 Phase 2, Phase 3
8 Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps Completed NCT00005094 Phase 3
9 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
10 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Recruiting NCT02263365 Phase 3
11 Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP) Active, not recruiting NCT01483144 Phase 3
12 Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) Terminated NCT00585312 Phase 3
13 Coxib-inhibition of Duodenal Polyp Growth in FAP Terminated NCT00844727 Phase 2, Phase 3
14 A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3
15 Exisulind in Preventing Polyps in Patients With Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3
16 Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis Unknown status NCT00319007 Phase 2
17 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2
18 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2
19 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2
20 Sirolimus and Familial Adenomatous Polyposis (FAP) Recruiting NCT03095703 Phase 2
21 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
22 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2
23 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Not yet recruiting NCT02961374 Phase 2
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
26 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis Patients Withdrawn NCT00248053 Phase 2
27 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1
28 Lyophilized Black Raspberries in Adults With Familial Adenomatous Polyposis (FAP) Completed NCT00770991 Phase 1
29 Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis Completed NCT00685568 Phase 1
30 A Pilot Open-Label Crossover Bioavailability Study of Celecoxib in Healthy Volunteers Completed NCT00813241 Phase 1
31 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1
32 Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard Endoscopy Unknown status NCT00253812
33 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134
34 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Unknown status NCT00675636
35 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
36 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
37 Dual Focus NBI and pCLE in FAP Related Duodenal Adenoma Completed NCT02162173
38 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
39 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
40 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
41 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953
42 Single Incision Laparoscopic Surgery in Treating Patients With Colorectal Disease Completed NCT01656746
43 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
44 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP) Recruiting NCT02656134
45 Registry With Information About Colitis Ulcerosa and Familial Adenomatous Polyposis Patients Recruiting NCT01604564
46 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Recruiting NCT02198092
47 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518
48 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Recruiting NCT02374931
49 Prevalence of Small Bowel Polyps in Patients With Sporadic Duodenal Adenomas Recruiting NCT02470416
50 Evaluation of Oesogastroduodenoscopy With Vision to 245 ° (Full Spectrum Endoscopy) to View the Main Disc and Accessory Recruiting NCT02859883

Search NIH Clinical Center for Mutyh-Associated Polyposis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Mutyh-Associated Polyposis

Genetic tests related to Mutyh-Associated Polyposis:

id Genetic test Affiliating Genes
1 Myh-Associated Polyposis 29
2 Mutyh-Associated Polyposis 24 MUTYH

Anatomical Context for Mutyh-Associated Polyposis

MalaCards organs/tissues related to Mutyh-Associated Polyposis:

39
Colon, Testes, Liver, Thyroid

Publications for Mutyh-Associated Polyposis

Articles related to Mutyh-Associated Polyposis:

(show all 47)
id Title Authors Year
1
Frequency and Features of Duodenal Adenomas in Patients WithA MUTYH-Associated Polyposis. ( 26905905 )
2016
2
Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. ( 27870730 )
2016
3
An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report. ( 27014339 )
2016
4
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. ( 26138249 )
2015
5
Somatic c.34G>T KRAS mutation: a new prescreening test forA MUTYH-associated polyposis? ( 26056087 )
2015
6
Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes. ( 26414517 )
2015
7
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. ( 24620956 )
2014
8
Establishing a diagnostic road map for MUTYH-associated polyposis. ( 24486588 )
2014
9
Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. ( 24470512 )
2014
10
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. ( 22865608 )
2013
11
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. ( 23599153 )
2013
12
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. ( 23361220 )
2013
13
Identification of a patient with atypical MUTYH-associated polyposis through detection of the KRAS c.34G>T mutation in liver metastasis. ( 23341527 )
2013
14
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
15
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. ( 22876359 )
2012
16
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. ( 22744763 )
2012
17
French experts report on MUTYH-associated polyposis (MAP). ( 22538434 )
2012
18
MUTYH associated polyposis coli: one common and one rare mutation. ( 22402879 )
2012
19
Role of the microenvironment in the tumourigenesis of microsatellite unstable and MUTYH-associated polyposis colorectal cancers. ( 22294774 )
2012
20
Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis? ( 21846783 )
2012
21
MUTYH-associated polyposis (MAP). ( 20663686 )
2011
22
Bronchioloalveolar adenocarcinoma and pulmonary langerhans cell histiocytosis in a patient with MUTYH-associated polyposis. ( 21189386 )
2011
23
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). ( 22103048 )
2011
24
Frequent mutation in North African patients with MUTYH-associated polyposis. ( 21443744 )
2011
25
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. ( 21178863 )
2010
26
Colorectal cancer survival advantage in MUTYH-associated polyposis and Lynch syndrome families. ( 21044965 )
2010
27
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. ( 20512164 )
2010
28
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. ( 20618354 )
2010
29
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. ( 21044966 )
2010
30
Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP). ( 20625837 )
2010
31
Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. ( 19672709 )
2010
32
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. ( 19732775 )
2009
33
Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis. ( 19031083 )
2009
34
MUTYH-associated polyposis and colorectal cancer. ( 19793568 )
2009
35
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. ( 19527492 )
2009
36
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. ( 19032956 )
2009
37
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers. ( 19462419 )
2009
38
MUTYH-associated polyposis. ( 19414147 )
2009
39
Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. ( 19806110 )
2009
40
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
41
MUTYH Associated Polyposis (MAP). ( 19506731 )
2008
42
High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas. ( 18506705 )
2008
43
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. ( 17161978 )
2007
44
Duodenal carcinoma in MUTYH-associated polyposis. ( 16943222 )
2006
45
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. ( 16557584 )
2006
46
[From gene to disease; MutYH-associated polyposis coli (MAP)]. ( 16425850 )
2005
47
MUTYH-Associated Polyposis ( 23035301 )
1993

Variations for Mutyh-Associated Polyposis

ClinVar genetic disease variations for Mutyh-Associated Polyposis:

6 (show all 45)
id 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.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
3 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh37 Chromosome 1, 45796869: 45796869
4 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
5 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh37 Chromosome 1, 45796892: 45796892
6 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
7 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
8 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
9 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188
10 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh37 Chromosome 1, 45797507: 45797507
11 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
12 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
13 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic rs587778536 GRCh38 Chromosome 1, 45331700: 45331700
14 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Pathogenic rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
15 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 GRCh37 Chromosome 1, 45799144: 45799144
16 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh37 Chromosome 1, 45798117: 45798117
17 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh38 Chromosome 1, 45331558: 45331558
18 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 GRCh37 Chromosome 1, 45797201: 45797201
19 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 GRCh38 Chromosome 1, 45331676: 45331676
20 MUTYH NM_001128425.1(MUTYH): c.857G> A (p.Gly286Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730881833 GRCh38 Chromosome 1, 45332242: 45332242
21 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh38 Chromosome 1, 45332794: 45332794
22 MUTYH NM_001128425.1(MUTYH): c.884C> T (p.Pro295Leu) single nucleotide variant Pathogenic/Likely pathogenic rs374950566 GRCh37 Chromosome 1, 45797887: 45797887
23 MUTYH NM_001128425.1(MUTYH): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs786203115 GRCh37 Chromosome 1, 45797972: 45797972
24 MUTYH NM_001128425.1(MUTYH): c.721C> T (p.Arg241Trp) single nucleotide variant Pathogenic/Likely pathogenic rs34126013 GRCh37 Chromosome 1, 45798130: 45798130
25 MUTYH NM_001128425.1(MUTYH): c.544C> T (p.Arg182Cys) single nucleotide variant Pathogenic/Likely pathogenic rs747993448 GRCh37 Chromosome 1, 45798467: 45798467
26 MUTYH NM_001128425.1(MUTYH): c.389-1G> A single nucleotide variant Pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
27 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh37 Chromosome 1, 45799108: 45799108
28 MUTYH NM_001128425.1(MUTYH): c.309G> A (p.Trp103Ter) single nucleotide variant Pathogenic rs748170941 GRCh37 Chromosome 1, 45799124: 45799124
29 MUTYH NM_001128425.1(MUTYH): c.349-?_*(1_?)del deletion Pathogenic GRCh37 Chromosome 1, 45794977: 45798996
30 MUTYH NM_001128425.1(MUTYH): c.1474A> T (p.Lys492Ter) single nucleotide variant Pathogenic rs863224502 GRCh37 Chromosome 1, 45796856: 45796856
31 MUTYH NM_001128425.1(MUTYH): c.1214_1224delCGTCCGTGACC (p.Pro405Leufs) deletion Pathogenic/Likely pathogenic rs863224501 GRCh37 Chromosome 1, 45797191: 45797201
32 MUTYH NM_001128425.1(MUTYH): c.1477G> T (p.Val493Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587782228 GRCh37 Chromosome 1, 45796229: 45796229
33 MUTYH NM_001128425.1(MUTYH): c.467G> A (p.Trp156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762307622 GRCh37 Chromosome 1, 45798627: 45798627
34 MUTYH NM_001128425.1(MUTYH): c.453_458dupATGGAT (p.Trp152_Met153insIleTrp) duplication Pathogenic/Likely pathogenic rs876660190 GRCh37 Chromosome 1, 45798773: 45798778
35 MUTYH NM_001128425.1(MUTYH): c.389-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
36 MUTYH NM_001128425.1(MUTYH): c.1435G> T (p.Glu479Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376790729 GRCh37 Chromosome 1, 45796895: 45796895
37 MUTYH NM_001128425.1(MUTYH): c.333dupA (p.Pro112Thrfs) duplication Pathogenic rs878854189 GRCh37 Chromosome 1, 45799100: 45799100
38 MUTYH NM_001128425.1(MUTYH): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs1060501324 GRCh38 Chromosome 1, 45331800: 45331800
39 MUTYH NM_001128425.1(MUTYH): c.393_406dupGGTCTCAGAGGTCA (p.Met136Argfs) duplication Pathogenic GRCh38 Chromosome 1, 45333153: 45333166
40 MUTYH NM_001128425.1(MUTYH): c.586G> T (p.Glu196Ter) single nucleotide variant Pathogenic rs745921592 GRCh38 Chromosome 1, 45332678: 45332678
41 MUTYH NM_001128425.1(MUTYH): c.1267G> T (p.Glu423Ter) single nucleotide variant Pathogenic rs1060501321 GRCh38 Chromosome 1, 45331476: 45331476
42 MUTYH NM_001128425.1(MUTYH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs766420907 GRCh38 Chromosome 1, 45331503: 45331503
43 MUTYH NM_001128425.1(MUTYH): c.504+19_504+31delTAGGGGAAATAGG deletion Pathogenic rs781222233 GRCh38 Chromosome 1, 45332887: 45332899
44 MUTYH NM_001128425.1(MUTYH): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1060501325 GRCh38 Chromosome 1, 45331462: 45331462
45 MUTYH NM_001128425.1(MUTYH): c.102delA (p.Arg36Glyfs) deletion Pathogenic rs1060501336 GRCh38 Chromosome 1, 45334446: 45334446

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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 APC KRAS TP53
2 12.27 APC KRAS SMAD4 TP53
3
Show member pathways
12.26 KRAS SMAD4 TP53
4
Show member pathways
12.26 APC SMAD4 TP53
5 12.21 APC KRAS TP53
6
Show member pathways
12.19 APC KRAS TP53
7 12.05 APC SMAD4 TP53
8 12.03 APC KRAS SMAD4 TP53
9
Show member pathways
12.02 APC KRAS TP53
10
Show member pathways
11.91 APC KRAS SMAD4 TP53
11 11.84 KRAS SMAD4 TP53
12
Show member pathways
11.78 KRAS SMAD4 TP53
13 11.75 APC KRAS SMAD4
14 11.63 APC KRAS TP53
15 11.54 SMAD4 TP53
16 11.52 APC MT-CO2
17 11.48 KRAS TP53
18 11.47 APC KRAS SMAD4 TP53
19 11.42 KRAS TP53
20 11.42 KRAS TP53
21 11.33 APC TP53
22 11.3 SMAD4 TP53
23 11.19 SMAD4 TP53
24 11.1 APC TP53
25 10.99 KRAS 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:

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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