HMPS1
MCID: PLY162
MIFTS: 63

Polyposis Syndrome, Hereditary Mixed, 1 (HMPS1)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Polyposis Syndrome, Hereditary Mixed, 1

MalaCards integrated aliases for Polyposis Syndrome, Hereditary Mixed, 1:

Name: Polyposis Syndrome, Hereditary Mixed, 1 56 71
Hereditary Mixed Polyposis Syndrome 1 12 29 6 15
Colorectal Adenoma and Carcinoma 1 56 12 73
Colorectal Cancer 4 56 73 29
Hmps1 56 12 73
Crac1 56 12 73
Chromosome 15q13-Q14 Duplication Syndrome, 40-Kb 56 12
Polyposis Syndrome, Mixed Hereditary 1 56 73
Adenomatous Polyps 43 71
Susceptibility to Colorectal Cancer on Chromosome 15 73
Colorectal Adenoma and Carcinoma 1; Crac1 56
Colorectal Cancer, Susceptibility to, 4 56
Polyposis Syndrome, Mixed, Hereditary 1 13
Crcs4 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
polyposis syndrome, hereditary mixed, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111685
OMIM 56 601228
SNOMED-CT via HPO 68 263681008
UMLS 71 C0206677 C1832587

Summaries for Polyposis Syndrome, Hereditary Mixed, 1

UniProtKB/Swiss-Prot : 73 Colorectal cancer 4: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Polyposis syndrome, mixed hereditary 1: A disease characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportion of affected individuals. Patients can develop polyps of multiple and mixed morphologies, including serrated lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas and colorectal carcinoma in the absence of any identifiable extra- colonic features.

MalaCards based summary : Polyposis Syndrome, Hereditary Mixed, 1, also known as hereditary mixed polyposis syndrome 1, is related to familial adenomatous polyposis and villous adenoma. An important gene associated with Polyposis Syndrome, Hereditary Mixed, 1 is GREM1 (Gremlin 1, DAN Family BMP Antagonist), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Prometaphase. The drugs Clarithromycin and Cytochrome P-450 Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and eye, and related phenotypes are abnormality of abdomen morphology and cellular

Disease Ontology : 12 A hereditary mixed polyposis syndrome that has material basis in heterozygous duplication of a region on chromosome 15q15.3-q22.1.

OMIM : 56 The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC). (601228)

Related Diseases for Polyposis Syndrome, Hereditary Mixed, 1

Diseases in the Hereditary Mixed Polyposis Syndrome family:

Polyposis Syndrome, Hereditary Mixed, 1 Polyposis Syndrome, Hereditary Mixed, 2

Diseases related to Polyposis Syndrome, Hereditary Mixed, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 32.5 PTGS2 ODC1 MUTYH MSH2 MLH1 MGMT
2 villous adenoma 31.0 MUC6 MLH1 APC
3 colorectal adenocarcinoma 30.8 PTGS2 MSH2 MLH1 APC
4 rectum cancer 30.5 MUTYH MSH2 MLH1 APC
5 myh-associated polyposis 30.5 MUTYH MSH2 APC
6 lynch syndrome 30.5 MUTYH MSH2 MLH1 MGMT GREM1 APC
7 colon adenocarcinoma 30.4 PTGS2 ODC1 MLH1 APC
8 signet ring cell adenocarcinoma 30.4 MUC6 MSH2 MLH1
9 barrett esophagus 30.3 PTGS2 ODC1 MUC6 MGMT APC
10 familial colorectal cancer 30.3 MUTYH MSH2 MLH1 APC
11 intestinal benign neoplasm 30.1 PTGS2 MUTYH MSH2 MLH1 APC
12 gastric adenocarcinoma 30.1 PTGS2 ODC1 MLH1 MGMT APC
13 colorectal adenoma 29.9 PTGS2 ODC1 MUTYH MSH2 MLH1 MGMT
14 adenoma 29.9 PTGS2 ODC1 MUTYH MUC6 MSH2 MLH1
15 gastric cancer 29.2 PTGS2 ODC1 MUTYH MUC6 MSH2 MLH1
16 hereditary mixed polyposis syndrome 27.2 TTK SCG5 PTGS2 PHF7 NDC80 MUTYH
17 colorectal cancer, hereditary nonpolyposis, type 4 12.0
18 familial adenomatous polyposis 1 11.9
19 colon adenoma 11.8
20 cervical polyp 11.4
21 familial adenomatous polyposis 2 11.4
22 familial adenomatous polyposis 3 11.4
23 familial adenomatous polyposis 4 11.4
24 adenocarcinoma 10.6
25 extrahepatic bile duct adenoma 10.5 MSH2 MLH1
26 renal pelvis transitional cell carcinoma 10.5 MSH2 MLH1
27 hyperplastic polyposis syndrome 10.5 MUTYH APC
28 adenosquamous colon carcinoma 10.5 MSH2 MLH1
29 jejunal adenocarcinoma 10.5 MUTYH MLH1
30 rectum signet ring adenocarcinoma 10.5 MSH2 MLH1
31 mosaic variegated aneuploidy syndrome 10.5 BUB1B BUB1
32 appendix carcinoid tumor 10.5 MSH2 MLH1
33 jejunal cancer 10.4 MUTYH MSH2 MLH1
34 helicobacter pylori infection 10.4
35 attenuated familial adenomatous polyposis 10.4 MUTYH MSH2 APC
36 colorectal cancer, hereditary nonpolyposis, type 6 10.4 MUTYH MSH2 MLH1
37 ascending colon cancer 10.4 MSH2 MLH1
38 sebaceous gland neoplasm 10.4 MUTYH MSH2 MLH1
39 sebaceous adenoma 10.4 MUTYH MSH2 MLH1
40 anal squamous cell carcinoma 10.4 MLH1 MGMT APC
41 autosomal dominant non-syndromic intellectual disability 8 10.4 MSH2 MLH1
42 muir-torre syndrome 10.4 MUTYH MSH2 MLH1
43 lower lip cancer 10.4 MSH2 MLH1
44 mismatch repair cancer syndrome 10.4 MSH2 MLH1 APC
45 duodenum adenocarcinoma 10.4 MUC6 MSH2 MLH1
46 small intestine adenocarcinoma 10.4 MUC6 MSH2 MLH1
47 endometrioid ovary carcinoma 10.4 MSH2 MLH1
48 desmoid tumor 10.4 PTGS2 MUTYH APC
49 colitis 10.4
50 ulcerative colitis 10.4

Graphical network of the top 20 diseases related to Polyposis Syndrome, Hereditary Mixed, 1:



Diseases related to Polyposis Syndrome, Hereditary Mixed, 1

Symptoms & Phenotypes for Polyposis Syndrome, Hereditary Mixed, 1

Human phenotypes related to Polyposis Syndrome, Hereditary Mixed, 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
atypical juvenile polyps
colonic adenomas
colorectal carcinomas
inflammatory and metaplastic polyps

Neoplasia:
atypical juvenile polyps
colonic adenomas
colorectal carcinomas
inflammatory and metaplastic polyps

Clinical features from OMIM:

601228

MGI Mouse Phenotypes related to Polyposis Syndrome, Hereditary Mixed, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 APC BUB1 BUB1B CENPE CETN2 CETN3
2 mortality/aging MP:0010768 10.1 APC BUB1 BUB1B CENPE CETN2 CETN3
3 neoplasm MP:0002006 9.76 APC BUB1 BUB1B MGMT MLH1 MSH2
4 reproductive system MP:0005389 9.7 APC BUB1 BUB1B CETN2 CETN3 GREM1
5 respiratory system MP:0005388 9.17 BUB1B CETN2 GREM1 MGMT MLH1 PTGS2

Drugs & Therapeutics for Polyposis Syndrome, Hereditary Mixed, 1

Drugs for Polyposis Syndrome, Hereditary Mixed, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 122)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clarithromycin Approved Phase 4 81103-11-9 84029
2 Cytochrome P-450 Enzyme Inhibitors Phase 4
3 Cytochrome P-450 CYP3A Inhibitors Phase 4
4
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
5
Sulindac Approved, Investigational Phase 3 38194-50-2 1548887 5352
6
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
7
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
8
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
9
Calcium carbonate Approved, Investigational Phase 3 471-34-1
10
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
11
Zinc Approved, Investigational Phase 3 7440-66-6 32051
12
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
13
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
14
Ornithine Approved, Nutraceutical Phase 3 70-26-8, 3184-13-2 6262
15
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
16
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
18
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
19
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
20 Tocotrienol Investigational Phase 3 6829-55-6
21 Omega 3 Fatty Acid Phase 2, Phase 3
22 Liver Extracts Phase 2, Phase 3
23 Gastrointestinal Agents Phase 2, Phase 3
24 Nonoxynol Phase 2, Phase 3
25 Antacids Phase 2, Phase 3
26 Anti-Ulcer Agents Phase 2, Phase 3
27 Cola Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Cyclooxygenase 2 Inhibitors Phase 3
30 Analgesics Phase 3
31 Cyclooxygenase Inhibitors Phase 3
32 Antirheumatic Agents Phase 3
33 Anti-Inflammatory Agents Phase 3
34 Anti-Inflammatory Agents, Non-Steroidal Phase 3
35 Fibrinolytic Agents Phase 3
36 Platelet Aggregation Inhibitors Phase 3
37 Antipyretics Phase 3
38 Micronutrients Phase 3
39 Hormones Phase 3
40 Vitamins Phase 3
41 Vasoconstrictor Agents Phase 3
42 Dihydroxycholecalciferols Phase 3
43 Nutrients Phase 3
44 Trace Elements Phase 3
45 Calcium, Dietary Phase 3
46 Calciferol Phase 3
47 Retinol palmitate Phase 3
48 Antioxidants Phase 3
49 retinol Phase 3
50 Protective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 148)
# Name Status NCT ID Phase Drugs
1 Can Involvement of Endoscopy Nurse Participation Increase Adenoma Detection Rate During Screening Colonoscopy?:A Prospective Multicenter Randomized Trial Completed NCT01124266 Phase 4
2 Prospective Comparison of NBI and i-Scan in Real-time Histological Prediction of Diminutive Colonic Polyps Completed NCT01133041 Phase 4
3 Effect of H. Pylori Eradication on the Fate of H. Pylori-associated Gastric Polyp (Randomized Controlled Study) Completed NCT03065868 Phase 4 H. pylori eradication (Amoxaxillin, Lanston, Clarithromycin)
4 Clinical Evidence-based Evaluation of the Efficacy of Xiaoai Jiedu Decoction in Preventing Colorectal Adenomatous Polyp Recurrence After Polypectomy Under Colonoscopy and Its Therapeutic Mechanism Not yet recruiting NCT03616444 Phase 4 Xiaoai Jiedu Decoction
5 Clinical Protocol For a Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Celecoxib (SC-58635) In The Prevention of Colorectal Sporadic Adenomatous Polyps (PRESAP) Completed NCT00141193 Phase 3 Celecoxib
6 The Effect of Two Dose Levels of Eicosapentaenoic Acid (EPA) on Apoptosis and Cell Proliferation in the Colonic Mucosa of Patients With a History of Colonic Polyps. Completed NCT00432913 Phase 2, Phase 3 Eicosapentaenoic Acid (EPA)
7 Aspirin/Folate Prevention of Large Bowel Polyps Completed NCT00272324 Phase 2, Phase 3 Aspirin;Folate
8 Prevention of Sporadic Colorectal Adenomas With Celecoxib Completed NCT00005094 Phase 3 celecoxib
9 CSP #380 - Prospective Evaluation of Risk Factors for Large (> 1 CM) Colonic Adenomas in Asymptomatic Subjects Completed NCT00032344 Phase 3
10 A Phase III Randomized, Double-Blind, Placebo-Controlled Clinical Trial of the Combination of DFMO and Sulindac to Decrease the Rate of Recurrence of Adenomatous Polyps in the Colon Completed NCT00118365 Phase 3 eflornithine;sulindac
11 Prevention of Progression of Duodenal Adenomas to Cancer in Patients With Familial Adenomatous Polyposis (FAP) Completed NCT00808743 Phase 2, Phase 3 Celecoxib;Ursodeoxycholic acid;Placebo
12 Prospective Evaluation of Computer-Assisted, Non-Cathartic CT Colonography for Detection of Adenomatous Colonic Polyps in a Screening Cohort Completed NCT01200303 Phase 2, Phase 3
13 Polyp Prevention Trial Completed NCT00339625 Phase 3
14 A Two-Arm Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Patients Using the Purified Free Fatty Acid, Eicosapentaenoic Acid Completed NCT00510692 Phase 2, Phase 3 Eicosapentanoic Acid (EPA);Placebo
15 Vitamin D/Calcium Polyp Prevention Study Completed NCT00153816 Phase 2, Phase 3 Calcium Carbonate;Vitamin D3;placebo
16 A Clinical Trial Evaluating the Efficacy and Safety of a Combination Treatment Administered Over 3 Years in Patients at Risk of Experiencing Recurrence of Colorectal Adenomas Terminated NCT00486512 Phase 3 aspirin, 1,25-dihydroxycholecalciferol, calcium;placebo
17 Prospective Study on Aspirin Efficacy in Reducing Colorectal Adenoma Recurrence Terminated NCT00224679 Phase 3 Aspirin
18 Evaluation of the Efficacy of a Combination of Micronutrients (Vitamin A, C, E, Selenium and Zinc) in Reducing the Incidence of Colorectal Metachronous Adenomas. A Double Blind, Phase III, Randomized, Placebo-controlled Trial Terminated NCT01437826 Phase 3 antioxidants;placebo
19 Celecoxib Polyp Prevention Trial in Participants With Resected Stage I Colon Cancer Terminated NCT00087256 Phase 3 Celecoxib
20 Phase III Study of the Effects of Selenium on Adenomatous Polyp Recurrence Terminated NCT00078897 Phase 3 Selenium
21 Statin Polyp Prevention Trial in Patients With Resected Colon Cancer Terminated NCT01011478 Phase 3 rosuvastatin
22 Calcium, Vitamin D, and Colon Cancer Risk Biomarkers Completed NCT00208793 Phase 2 Placebo
23 Study of the MUC1 Peptide - Poly-ICLC Adjuvant Vaccine in Individuals With Advanced Colorectal Adenoma Completed NCT00773097 Phase 2
24 PHASE II DOUBLE-BLIND CHEMOPREVENTION TRIAL OF HIGH DOSE FOLIC ACID VERSUS PLACEBO IN PATIENTS WITH RESECTED COLORECTAL POLYPS Completed NCT00002650 Phase 2
25 Chemopreventive Effects of Mesalazine in Patients at High Risk of Recurrent (Nonfamilial) Colorectal Adenomas Completed NCT01894685 Phase 2 Mesalazine;Placebo
26 Polyethylene Glycol for ACF Reduction and Biomarker Modulation in Individuals With CRC Risk Completed NCT00828984 Phase 2 macrogol 3350-based oral osmotic laxative
27 A Phase IIa Randomized, Double-Blind Trial of Erlotinib in Inhibiting EGF Receptor Signaling in Aberrant Crypt Foci of the Colon Completed NCT00754494 Phase 2 erlotinib hydrochloride
28 A Phase IIa Trial of Metformin for Colorectal Cancer Risk Reduction Among Patients With a History of Colorectal Adenomas and Elevated Body Mass Index Completed NCT01312467 Phase 2 metformin hydrochloride
29 Genetic Events Leading to APC-Dependent Colon Cancer in High-Risk Families; a Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
30 Randomized Phase II Trial of Aspirin and Difluoromethylornithine (DFMO) in Patients at High Risk of Colorectal Cancer Completed NCT00983580 Phase 2 Aspirin;Eflornithine
31 Fatty Acid Desaturase Activity, Fish Oil and Colorectal Cancer Prevention Completed NCT01661764 Phase 2 Eicosapentanoic acid and docosahexanoic acid;Oleic Acid
32 Detection and Classification of Colon Polyps: A Comparison of High Definition White Light and Narrow Band Imaging (Endoscopic Trimodal Imaging; ETMI) Completed NCT00825292 Phase 2
33 Randomised, Multicentre, Phase II Pilot Study to Assess the Efficacy and Safety of Treatment With FOLFIRI-aflibercept Compared to Initial Treatment With FOLFIRI-aflibercept (for 6 Cycles) Followed by Maintenance With 5FU-aflibercept, in an Elderly Population With Metastatic Colorectal Cancer (mCRC) After Failure of an Oxaliplatin-based Regimen Recruiting NCT03279289 Phase 2 Aflibercept;Irinotecan;folinic acid (dl racemic);5Fluorouracil;5-FU
34 Preoperative Endoscopic Treatment With Fosfomycin and Metronidazole in Patients With Right-sided Colon Cancer and Colon Adenoma: a Clinical Proof-of-concept Intervention Study MEFO Trial Recruiting NCT04312360 Phase 2 therapeutic endoscopy with metronidazole and fosfomycin disodium
35 Randomized, Double-Blind, Placebo-Controlled Trial of MUC1 Vaccine in Patients With Newly Diagnosed Advanced Adenomas Active, not recruiting NCT02134925 Phase 2
36 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis (FAP) Patients Withdrawn NCT00248053 Phase 2 curcumin
37 A Phase I In-Vivo Colon Protocol for Detection of Neoplasia in the Digestive Tract (U54) Completed NCT01722058 Phase 1 Peptide application
38 Cabozantinib (XL184) With Panitumumab in Subjects With KRAS Wild-Type Metastatic Colorectal Cancer and Cabozantinib Monotherapy in Subjects With MET Amplified Treatment-Refractory Colorectal Cancer Completed NCT02008383 Phase 1 Cabozantinib
39 A Phase 1b, Multicenter, Randomized, Blinded, Placebo-controlled Study to Evaluate the Efficacy of Guselkumab in Subjects With Familial Adenomatous Polyposis Recruiting NCT03649971 Phase 1 Guselkumab;Placebo
40 A Prospective Investigation of the ColubrisMX Endoluminal Surgical (ELS) System Active, not recruiting NCT04192565 Phase 1
41 Study of Performance of Confocal Endomicroscope With Fluorescein Imaging Agent in the Colon Suspended NCT03220711 Phase 1 Fluorescein
42 Prospective Comparison of Capsule Endoscopy Pillcam II™ Versus Colonoscopy for the Detection of Adenomatous Polyps and Cancer in a High Risk Population Unknown status NCT01184781
43 Development of an Endoscopic Classification Score System for Serrated Adenomas in the Colorectum Unknown status NCT03486418
44 Computer Assisted Optical Assessment of Small Colorectal Polyps Unknown status NCT02522702
45 A Prospective, Single Blinded Study for Predicting Colon Polyp Histology With Narrow Band Imaging Unknown status NCT00613262
46 Computer-assisted Detection of Colonic Polyps Unknown status NCT02838888
47 Resect and Discard Extension to Fuji Intelligent Color Enhancement (FICE) of Narrow Band Imaging International Colorectal Endoscopic (NicE) Classification Unknown status NCT02263144
48 Impact of Diverticular Disease on the Detection of Colon Adenomas Unknown status NCT02057562
49 A Prospective Study of a New Immunochemical Fecal Occult Blood Test in U.S. Veteran Patients Undergoing Colonoscopy Unknown status NCT00533975
50 Augmentation of Screening Colonoscopy With Fecal Immunochemical Testing Unknown status NCT00892593

Search NIH Clinical Center for Polyposis Syndrome, Hereditary Mixed, 1

Cochrane evidence based reviews: adenomatous polyps

Genetic Tests for Polyposis Syndrome, Hereditary Mixed, 1

Genetic tests related to Polyposis Syndrome, Hereditary Mixed, 1:

# Genetic test Affiliating Genes
1 Hereditary Mixed Polyposis Syndrome 1 29
2 Colorectal Cancer 4 29

Anatomical Context for Polyposis Syndrome, Hereditary Mixed, 1

MalaCards organs/tissues related to Polyposis Syndrome, Hereditary Mixed, 1:

40
Colon, Testes, Eye, Whole Blood, Liver, Prostate, Cortex

Publications for Polyposis Syndrome, Hereditary Mixed, 1

Articles related to Polyposis Syndrome, Hereditary Mixed, 1:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. 56
22561515 2012
2
Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11-q14. 56
20407467 2010
3
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. 56
18372905 2008
4
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. 56
18084292 2008
5
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. 56
12696020 2003
6
A distinct tumor suppressor gene locus on chromosome 15q21.1 in sporadic form of colorectal cancer. 56
10646855 2000
7
Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. 56
10092300 1999
8
Clinical and molecular features of the hereditary mixed polyposis syndrome. 56
9024286 1997
9
Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. 56
8644741 1996
10
Dual TTK/CLK2 inhibitor, CC-671, selectively antagonizes ABCG2-mediated multidrug resistance in lung cancer cells. 61
32478948 2020
11
Requirement for human Mps1/TTK in oxidative DNA damage repair and cell survival through MDM2 phosphorylation. 61
26531827 2016
12
TTK activates Akt and promotes proliferation and migration of hepatocellular carcinoma cells. 61
26418879 2015
13
Phosphorylation at threonine 288 by cell cycle checkpoint kinase 2 (CHK2) controls human monopolar spindle 1 (Mps1) kinetochore localization. 61
24764296 2014
14
TTK/hMPS1 is an attractive therapeutic target for triple-negative breast cancer. 61
23700430 2013
15
Quantitative mass spectrometry analysis reveals similar substrate consensus motif for human Mps1 kinase and Plk1. 61
21533207 2011
16
Mip1 associates with both the Mps1 kinase and actin, and is required for cell cortex stability and anaphase spindle positioning. 61
21325884 2011
17
Dynein/Dynactin-mediated transport of kinetochore components off kinetochores and onto spindle poles induced by nordihydroguaiaretic acid. 61
21305043 2011
18
Progress in COX-2 inhibitors: a journey so far. 54
20166930 2010
19
TTK/hMps1 mediates the p53-dependent postmitotic checkpoint by phosphorylating p53 at Thr18. 61
19332559 2009
20
Non-steroidal anti-inflammatory drugs and the risk of cardiovascular diseases: are we going to see the revival of cyclooxygenase-2 selective inhibitors? 54
19413182 2009
21
The cell cycle checkpoint kinase CHK2 mediates DNA damage-induced stabilization of TTK/hMps1. 61
19151762 2009
22
Age-related increase in colorectal cancer stem cells in macroscopically normal mucosa of patients with adenomas: a risk factor for colon cancer. 54
19010307 2009
23
Colorectal cancer: a summary of the evidence for screening and prevention. 54
19119558 2008
24
Methylation pattern of the O6-methylguanine-DNA methyltransferase gene in colon during progressive colorectal tumorigenesis. 54
18240147 2008
25
COX-2 expression in sporadic colorectal adenomatous polyps is linked to adenoma characteristics. 54
18462368 2008
26
Mucins in the colorectal neoplastic spectrum with reference to conventional and serrated adenomas. 54
18080919 2007
27
hMLH1, hMSH2 and cyclooxygenase-2 (cox-2) in sporadic colorectal polyps. 54
18214062 2007
28
Mps1 activation loop autophosphorylation enhances kinase activity. 61
17728254 2007
29
Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics. 54
17674103 2007
30
Clinicopathological characteristics of colorectal cancer with family history: an evaluation of family history as a predictive factor for microsatellite instability. 61
17923762 2007
31
Homeobox protein CDX2 reduces Cox-2 transcription by inactivating the DNA-binding capacity of nuclear factor-kappaB. 54
17876541 2007
32
[Selective cyclooxygenase-2 inhibitors for the prevention of colorectal adenomas: a meta-analysis]. 54
17923032 2007
33
Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanism. 54
17131344 2007
34
Survey of molecular profiling during human colon cancer development and progression by immunohistochemical staining on tissue microarray. 54
17278192 2007
35
Promoter methylation status of the MGMT, hMLH1, and CDKN2A/p16 genes in non-neoplastic mucosa of patients with and without colorectal adenomas. 54
16820927 2006
36
CENP-F is a novel microtubule-binding protein that is essential for kinetochore attachments and affects the duration of the mitotic checkpoint delay. 61
16601978 2006
37
Celecoxib for the prevention of colorectal adenomatous polyps. 54
16943401 2006
38
Prostaglandin E(2) stimulates progression-related gene expression in early colorectal adenoma cells. 54
16685273 2006
39
DNA damage-induced expression of p53 suppresses mitotic checkpoint kinase hMps1: the lack of this suppression in p53MUT cells contributes to apoptosis. 61
16446370 2006
40
Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea. 54
16521226 2006
41
Analysis of Aurora-A and hMPS1 mitotic kinases in mantle cell lymphoma. 61
16080195 2006
42
DNA repair polymorphisms and risk of colorectal adenomatous or hyperplastic polyps. 54
16284370 2005
43
TTK/hMps1 participates in the regulation of DNA damage checkpoint response by phosphorylating CHK2 on threonine 68. 61
15618221 2005
44
Cyclooxygenase 2, p53, beta-catenin, and APC protein expression in gastric adenomatous polyps. 54
15716238 2005
45
Support for hMLH1 and MGMT silencing as a mechanism of tumorigenesis in the hyperplastic-adenoma-carcinoma (serrated) carcinogenic pathway in the colon. 54
15712188 2005
46
Kinetochore localization and microtubule interaction of the human spindle checkpoint kinase Mps1. 61
15235793 2004
47
The relationship between cyclooxygenase-2 expression and characteristics of malignant transformation in human colorectal adenomas. 54
15167166 2004
48
Frequent CpG island methylation in precursor lesions and early gastric adenocarcinomas. 54
15064707 2004
49
Human Mps1 protein kinase is required for centrosome duplication and normal mitotic progression. 61
14657364 2003
50
MSH6 germline mutations are rare in colorectal cancer families. 54
14520694 2003

Variations for Polyposis Syndrome, Hereditary Mixed, 1

ClinVar genetic disease variations for Polyposis Syndrome, Hereditary Mixed, 1:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCG5 NC_000015.9:g.32964938_33004759dupduplication Pathogenic 38805 15:32964938-33004759 15:32672737-32712558

Cosmic variations for Polyposis Syndrome, Hereditary Mixed, 1:

9 (show top 50) (show all 54799)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97280902 ZZZ3 large intestine,colon,carcinoma,adenocarcinoma c.1366C>T p.P456S 1:77631989-77631989 4
2 COSM88263736 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.553G>T p.D185Y 23:15809314-15809314 4
3 COSM88261539 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.917G>A p.R306Q 23:15820296-15820296 4
4 COSM95950816 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1364T>A p.L455H 1:85657855-85657855 4
5 COSM86861594 ZNHIT1 large intestine,colon,carcinoma,adenocarcinoma c.400C>T p.R134W 7:101223799-101223799 4
6 COSM98771566 ZNF813 large intestine,colon,carcinoma,adenocarcinoma c.1639G>A p.G547R 19:53491871-53491871 4
7 COSM91871130 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.1158G>T p.W386C 19:30444720-30444720 4
8 COSM91870713 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.2533C>G p.L845V 19:30548152-30548152 4
9 COSM94777824 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 4
10 COSM94774956 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.799G>C p.E267Q 18:25227119-25227119 4
11 COSM86916483 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.2020A>C p.R674= 15:56658461-56658461 4
12 COSM95251466 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 4
13 COSM105811781 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1454A>G p.H485R 19:43997278-43997278 4
14 COSM89535029 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 4
15 COSM127394330 ZFHX4 large intestine,rectum,carcinoma,adenocarcinoma c.8291C>T p.P2764L 8:76855212-76855212 4
16 COSM127388315 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 4
17 COSM149275347 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7928G>A p.R2643H 16:72794754-72794754 4
18 COSM149294291 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.392G>T p.G131V 16:72959754-72959754 4
19 COSM149316595 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.4628G>A p.R1543H 16:72798054-72798054 4
20 COSM149297634 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9227T>G p.M3076R 16:72793455-72793455 4
21 COSM149331878 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2548C>A p.L850I 16:72957598-72957598 4
22 COSM149281001 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7490C>T p.S2497L 16:72795192-72795192 4
23 COSM149295261 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.7279G>A p.D2427N 16:72795403-72795403 4
24 COSM149287754 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.6692C>T p.P2231L 16:72795990-72795990 4
25 COSM149281665 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.8968G>A p.V2990I 16:72793714-72793714 4
26 COSM149303003 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4251G>C p.Q1417H 16:72798431-72798431 4
27 COSM149332863 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10415C>T p.A3472V 16:72787861-72787861 4
28 COSM149262764 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1532C>A p.P511H 16:72958614-72958614 4
29 COSM149309557 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7804A>G p.T2602A 16:72794878-72794878 4
30 COSM149331841 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4242A>C p.E1414D 16:72798440-72798440 4
31 COSM149309565 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7666G>A p.A2556T 16:72795016-72795016 4
32 COSM149283939 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10346C>T p.A3449V 16:72787930-72787930 4
33 COSM149331838 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9997C>A p.Q3333K 16:72788279-72788279 4
34 COSM149288753 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2339C>T p.A780V 16:72957807-72957807 4
35 COSM149286811 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.2875G>A p.D959N 16:72950810-72950810 4
36 COSM149314781 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3863C>T p.T1288M 16:72811578-72811578 4
37 COSM149321671 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3412A>T p.I1138F 16:72889767-72889767 4
38 COSM149288742 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.10831C>A p.H3611N 16:72787445-72787445 4
39 COSM149307391 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1238C>A p.T413N 16:72958908-72958908 4
40 COSM149310951 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9467G>A p.S3156N 16:72788809-72788809 4
41 COSM149267318 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3367C>T p.R1123W 16:72889812-72889812 4
42 COSM149286804 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.8360C>A p.P2787H 16:72794322-72794322 4
43 COSM149292048 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10754C>G p.S3585C 16:72787522-72787522 4
44 COSM149316603 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.4309A>G p.S1437G 16:72798373-72798373 4
45 COSM149276729 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3829G>A p.V1277M 16:72811612-72811612 4
46 COSM149309571 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7381G>A p.E2461K 16:72795301-72795301 4
47 COSM149289422 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.5555A>C p.Q1852P 16:72797127-72797127 4
48 COSM149316587 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.8875A>G p.K2959E 16:72793807-72793807 4
49 COSM149267991 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.6296C>T p.P2099L 16:72796386-72796386 4
50 COSM149288723 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 4

Expression for Polyposis Syndrome, Hereditary Mixed, 1

Search GEO for disease gene expression data for Polyposis Syndrome, Hereditary Mixed, 1.

Pathways for Polyposis Syndrome, Hereditary Mixed, 1

GO Terms for Polyposis Syndrome, Hereditary Mixed, 1

Cellular components related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.3 TTK SCG5 PHF7 NDC80 MUTYH MSH2
2 centrosome GO:0005813 9.83 NDC80 CETN3 CETN2 CEP76 APC
3 chromosome GO:0005694 9.73 NDC80 MSH2 MLH1 CENPE BUB1B BUB1
4 chromosome, centromeric region GO:0000775 9.67 NDC80 CENPE BUB1B BUB1
5 nuclear pore nuclear basket GO:0044615 9.49 CETN3 CETN2
6 mismatch repair complex GO:0032300 9.48 MSH2 MLH1
7 condensed chromosome kinetochore GO:0000777 9.46 NDC80 CENPE BUB1B BUB1
8 transcription export complex 2 GO:0070390 9.4 CETN3 CETN2
9 condensed nuclear chromosome outer kinetochore GO:0000942 9.32 NDC80 BUB1
10 condensed nuclear chromosome kinetochore GO:0000778 9.13 NDC80 BUB1B BUB1
11 kinetochore GO:0000776 9.1 TTK NDC80 CENPE BUB1B BUB1 APC

Biological processes related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.95 MUTYH MSH2 MLH1 MGMT CETN2
2 cellular response to DNA damage stimulus GO:0006974 9.85 MUTYH MSH2 MLH1 MGMT CETN2 APC
3 mitotic cell cycle GO:0000278 9.78 NDC80 CETN2 CENPE BUB1B
4 mitotic spindle organization GO:0007052 9.67 TTK NDC80 CENPE
5 cell division GO:0051301 9.63 NDC80 CETN3 CETN2 CENPE BUB1B BUB1
6 mitotic cell cycle checkpoint GO:0007093 9.61 TTK BUB1B BUB1
7 isotype switching GO:0045190 9.59 MSH2 MLH1
8 somatic hypermutation of immunoglobulin genes GO:0016446 9.58 MSH2 MLH1
9 metaphase plate congression GO:0051310 9.58 NDC80 CENPE
10 mismatch repair GO:0006298 9.58 MUTYH MSH2 MLH1
11 attachment of mitotic spindle microtubules to kinetochore GO:0051315 9.57 NDC80 CENPE
12 positive regulation of isotype switching to IgG isotypes GO:0048304 9.56 MSH2 MLH1
13 chromosome segregation GO:0007059 9.56 TTK NDC80 CENPE BUB1
14 meiotic sister chromatid cohesion, centromeric GO:0051754 9.54 BUB1B BUB1
15 positive regulation of isotype switching to IgA isotypes GO:0048298 9.52 MSH2 MLH1
16 somatic recombination of immunoglobulin gene segments GO:0016447 9.51 MSH2 MLH1
17 cell cycle GO:0007049 9.5 NDC80 MLH1 CETN3 CETN2 CENPE BUB1B
18 female meiosis chromosome segregation GO:0016321 9.46 TTK MLH1
19 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.32 MSH2 MLH1
20 mitotic spindle assembly checkpoint GO:0007094 8.92 TTK BUB1B BUB1 APC

Molecular functions related to Polyposis Syndrome, Hereditary Mixed, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.32 TTK SCG5 PTGS2 PHF7 ODC1 NDC80
2 microtubule binding GO:0008017 9.71 CETN3 CETN2 CENPE APC
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.46 CETN3 CETN2
4 mismatched DNA binding GO:0030983 9.43 MSH2 MLH1
5 kinetochore binding GO:0043515 9.32 TTK CENPE
6 MutSalpha complex binding GO:0032407 9.26 MUTYH MLH1
7 MutLalpha complex binding GO:0032405 9.16 MUTYH MSH2
8 oxidized purine DNA binding GO:0032357 8.96 MUTYH MSH2
9 guanine/thymine mispair binding GO:0032137 8.62 MSH2 MLH1

Sources for Polyposis Syndrome, Hereditary Mixed, 1

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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