FAP
MCID: FML011
MIFTS: 73

Familial Adenomatous Polyposis (FAP)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Adenomatous Polyposis

MalaCards integrated aliases for Familial Adenomatous Polyposis:

Name: Familial Adenomatous Polyposis 12 75 53 25 37 29 55 6 15
Adenomatous Polyposis Coli 53 25 44 72
Familial Multiple Polyposis Syndrome 25 29 6
Myh-Associated Polyposis 25 29 6
Adenomatous Polyposis of the Colon 12 53
Familial Intestinal Polyposis 53 72
Fap 53 25
Familial Adenomatous Polyposis of the Colon 53
Adenomatous Familial Polyposis Syndrome 25
Polyposis, Adenomatous Intestinal 53
Familial Polyposis of the Colon 53
Adenomatous Polyposis, Familial 40
Adenomatous Familial Polyposis 25
Familial Multiple Polyposis 53
Hereditary Polyposis Coli 53
Mutyh-Associate Polyposis 72
Fpc 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0050424
KEGG 37 H01025
MeSH 44 D011125
NCIt 50 C3339
SNOMED-CT 68 72900001
UMLS 72 C0032580 C2713443 C3272841

Summaries for Familial Adenomatous Polyposis

Genetics Home Reference : 25 Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome. A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.

MalaCards based summary : Familial Adenomatous Polyposis, also known as adenomatous polyposis coli, is related to familial adenomatous polyposis 1 and attenuated familial adenomatous polyposis, and has symptoms including abdominal pain and diarrhea. An important gene associated with Familial Adenomatous Polyposis is APC (APC Regulator Of WNT Signaling Pathway), and among its related pathways/superpathways are Wnt signaling pathway and Regulation of actin cytoskeleton. The drugs Erythromycin and Erythromycin stearate have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and testes, and related phenotypes are multiple gastric polyps and duodenal polyposis

Disease Ontology : 12 An autosomal genetic disease that has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.

NIH Rare Diseases : 53 Familial adenomatous polyposis (FAP) is an inherited condition that causes cancer of the large intestine (colon) and rectum. People with the classic type of FAP usually develop hundreds to thousands of noncancerous (benign) polyps (growths) in the colon as early as their teenage years. Overtime, these polyps can become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other signs and symptoms may include dental abnormalities; desmoid tumors; and benign and malignant tumors of the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. Some people have a milder form of the condition called attenuated familial adenomatous polyposis (AFAP) which is generally characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer by 10-15 years. FAP is caused by changes (mutations) in the APC gene and is inherited in an autosomal dominant manner. People with FAP usually undergo regular screening until they develop 20 to 30 polyps and then a colectomy (removal of colon) is generally recommended.

KEGG : 37
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated, all patients with FAP develop colon cancer a decade after the appearance of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition.

Wikipedia : 75 Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous... more...

Related Diseases for Familial Adenomatous Polyposis

Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2
Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4

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

(show top 50) (show all 593)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 1 35.6 CTNNB1 APC
2 attenuated familial adenomatous polyposis 34.8 MUTYH MSH6 MSH2 APC
3 mutyh-associated polyposis 34.1 TP53 MUTYH KRAS APC
4 desmoid disease, hereditary 34.0 CTNNB1 APC
5 hepatoblastoma 33.5 TP53 CTNNB1 APC
6 breast ductal carcinoma 32.9 TP53 CTNNB1 CDH1 CCND1
7 mismatch repair cancer syndrome 32.8 MSH6 MSH2 MLH1 CTNNB1 APC
8 medulloblastoma 32.6 TP53 MYC CTNNB1 CCND1 AXIN1 APC
9 gastric cancer 31.3 TP53 PTGS2 MYC MUTYH MSH2 MLH1
10 periampullary adenoma 31.3 NTHL1 KRAS APC
11 peutz-jeghers syndrome 31.2 TP53 CTNNB1 APC
12 duodenum cancer 31.2 NTHL1 MUTYH KRAS
13 adenoma 31.2 TP53 PTGS2 MUTYH MSH2 MLH1 KRAS
14 hyperplastic polyposis syndrome 31.0 TP53 MUTYH KRAS APC
15 polyposis syndrome, hereditary mixed, 1 31.0 PTGS2 MUTYH MLH1 APC
16 colorectal adenoma 31.0 TP53 PTGS2 MUTYH MSH2 MLH1 KRAS
17 juvenile polyposis syndrome 31.0 PTGS2 MUTYH APC
18 familial colorectal cancer 31.0 TP53 MUTYH MSH2 MLH1 CDH1 APC
19 colorectal cancer, hereditary nonpolyposis, type 7 30.9 MSH2 MLH1
20 ureteral obstruction 30.8 TP53 PTGS2 CTNNB1
21 barrett esophagus 30.7 TP53 PTGS2 CCND1 APC
22 skin benign neoplasm 30.7 MSH6 MSH2 MLH1
23 barrett's adenocarcinoma 30.6 TP53 PTGS2 KRAS
24 squamous cell carcinoma 30.5 TP53 PTGS2 CTNNB1 CDH1 CCND1
25 muir-torre syndrome 30.5 MUTYH MSH6 MSH2 MLH1
26 endometrial adenocarcinoma 30.5 TP53 MLH1 KRAS CTNNB1
27 oral cancer 30.4 TP53 PTGS2 CDH1 CCND1
28 colorectal cancer, hereditary nonpolyposis, type 5 30.3 MSH6 MSH2 MLH1
29 transitional cell carcinoma 30.3 TP53 PTGS2 MSH2 CDH1
30 hereditary breast ovarian cancer syndrome 30.3 TP53 MSH6 MLH1
31 intrahepatic cholangiocarcinoma 30.3 TP53 KRAS CTNNB1 CDH1
32 adenocarcinoma 30.2 TP53 PTGS2 MYC MLH1 KRAS CTNNB1
33 lynch syndrome i 30.1 MSH6 MSH2 MLH1 MCC
34 cervical cancer 30.1 TP53 PTGS2 MYC CTNNB1 CDH1 CCND1
35 gallbladder cancer 30.0 TP53 PTGS2 MLH1 KRAS CDH1
36 bladder cancer 29.9 TP53 MYC KRAS CDH1 CCND1
37 glioblastoma multiforme 29.9 TP53 MYC GSK3B CCND1
38 colon adenocarcinoma 29.8 PTGS2 MSH6 MLH1 KRAS CTNNB1 CDH1
39 cholangiocarcinoma 29.8 TP53 PTGS2 KRAS CTNNB1 CDH1 CCND1
40 adenoid cystic carcinoma 29.8 TP53 KRAS CTNNB1 CDH1 CCND1
41 esophageal cancer 29.7 TP53 PTGS2 MYC KRAS CTNNB1 CDH1
42 lynch syndrome 29.7 TP53 MUTYH MSH6 MSH3 MSH2 MLH1
43 colorectal adenocarcinoma 29.7 TP53 PTGS2 MSH6 MSH2 MLH1 KRAS
44 brain cancer 29.7 TP53 MYC MSH6 MSH2 CTNNB1 AXIN1
45 prostate cancer 29.6 TP53 PTGS2 MYC KRAS CTNNB1 CDH1
46 lung cancer susceptibility 3 29.6 TP53 PTGS2 KRAS CTNNB1 CDH1 CCND1
47 gastric adenocarcinoma 29.6 TP53 PTGS2 MYC MLH1 KRAS CTNNB1
48 bladder urothelial carcinoma 29.5 TP53 MLH1 KRAS CTNNB1 CDH1 CCND1
49 intestinal benign neoplasm 29.1 TP53 PTGS2 MUTYH MSH2 MLH1 KRAS
50 gastrointestinal system disease 28.8 TP53 PTGS2 MYC MSH2 MLH1 KRAS

Graphical network of the top 20 diseases related to Familial Adenomatous Polyposis:



Diseases related to Familial Adenomatous Polyposis

Symptoms & Phenotypes for Familial Adenomatous Polyposis

Human phenotypes related to Familial Adenomatous Polyposis:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 multiple gastric polyps 32 hallmark (90%) HP:0004394
2 duodenal polyposis 32 hallmark (90%) HP:0004783
3 adenomatous colonic polyposis 32 hallmark (90%) HP:0005227
4 colon cancer 32 frequent (33%) HP:0003003
5 delayed eruption of teeth 32 occasional (7.5%) HP:0000684
6 multiple lipomas 32 occasional (7.5%) HP:0001012
7 irregular hyperpigmentation 32 occasional (7.5%) HP:0007400
8 fibroma 32 occasional (7.5%) HP:0010614
9 odontoma 32 occasional (7.5%) HP:0011068
10 increased number of teeth 32 occasional (7.5%) HP:0011069
11 neoplasm of the central nervous system 32 occasional (7.5%) HP:0100006

UMLS symptoms related to Familial Adenomatous Polyposis:


abdominal pain, diarrhea

GenomeRNAi Phenotypes related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1
2 Reduced mammosphere formation GR00396-S 9.61 APC2 CCND1 CDH1 GSK3B HNF4A KRAS
3 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC AXIN1 GSK3B MCC MSH2

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.55 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
2 homeostasis/metabolism MP:0005376 10.44 APC CCND1 CDH1 CTNNB1 GSK3B HNF4A
3 digestive/alimentary MP:0005381 10.4 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
4 mortality/aging MP:0010768 10.38 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
5 behavior/neurological MP:0005386 10.35 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
6 growth/size/body region MP:0005378 10.34 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
7 cardiovascular system MP:0005385 10.3 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
8 immune system MP:0005387 10.3 APC CCND1 CDH1 CTNNB1 GSK3B KRAS
9 neoplasm MP:0002006 10.3 APC CCND1 CDH1 CTNNB1 KRAS MLH1
10 integument MP:0010771 10.29 APC CCND1 CDH1 CTNNB1 KRAS MLH1
11 endocrine/exocrine gland MP:0005379 10.27 APC CCND1 CDH1 CTNNB1 GSK3B KRAS
12 nervous system MP:0003631 10.25 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
13 embryo MP:0005380 10.23 APC AXIN1 CDH1 CTNNB1 HNF4A KRAS
14 craniofacial MP:0005382 10.19 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
15 normal MP:0002873 10.15 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
16 liver/biliary system MP:0005370 10.1 APC CTNNB1 GSK3B HNF4A KRAS MYC
17 hearing/vestibular/ear MP:0005377 10.02 APC AXIN1 CTNNB1 KRAS MYC TP53
18 no phenotypic analysis MP:0003012 9.95 CDH1 CTNNB1 GSK3B KRAS MYC PTGS2
19 reproductive system MP:0005389 9.9 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
20 renal/urinary system MP:0005367 9.8 APC AXIN1 CTNNB1 GSK3B KRAS PTGS2
21 pigmentation MP:0001186 9.72 APC CTNNB1 KRAS MYC TP53
22 respiratory system MP:0005388 9.5 AXIN1 CCND1 CTNNB1 KRAS MLH1 PTGS2
23 skeleton MP:0005390 9.28 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS

Drugs & Therapeutics for Familial Adenomatous Polyposis

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 441411 12560
2 Erythromycin stearate Phase 4
3 Erythromycin Estolate Phase 4
4 Erythromycin Ethylsuccinate Phase 4
5 Cyclooxygenase 2 Inhibitors Phase 4
6
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
7
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
8
Loperamide Approved Phase 3 53179-11-6 3955
9 Cholagogues and Choleretics Phase 2, Phase 3
10 Omega 3 Fatty Acid Phase 3
11 Gastrointestinal Agents Phase 3
12 Antidiarrheals Phase 3
13
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
14
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
15
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
16
Metformin Approved Phase 2 657-24-9 4091 14219
17
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
18
Turmeric Approved, Experimental, Investigational Phase 2
19
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
21 Immunologic Factors Phase 2
22 Retinol palmitate Phase 2
23 retinol Phase 2
24 Antifungal Agents Phase 2
25 Immunosuppressive Agents Phase 2
26 Hypoglycemic Agents Phase 2
27
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
28 Protein Kinase Inhibitors Phase 2
29 Anti-Bacterial Agents Phase 2
30 Antibiotics, Antitubercular Phase 2
31
Liposomal doxorubicin Phase 2 31703
32 Topoisomerase Inhibitors Phase 2
33 Turmeric extract Phase 2
34 Antioxidants Phase 2
35 Protective Agents Phase 2
36 Raspberry Approved Phase 1
37
Bevacizumab Approved, Investigational Phase 1 216974-75-3
38
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
39 Angiogenesis Inhibitors Phase 1
40 Mitogens Phase 1
41 Angiogenesis Modulating Agents Phase 1
42 Antineoplastic Agents, Immunological Phase 1
43 Endothelial Growth Factors Phase 1
44 Fibrinolytic Agents Phase 1
45 Platelet Aggregation Inhibitors Phase 1
46 Antipyretics Phase 1
47
Ethanol Approved 64-17-5 702
48
Morphine Approved, Investigational 57-27-2 5288826
49
Mineral oil Approved, Vet_approved 8042-47-5
50
Estradiol Approved, Investigational, Vet_approved Early Phase 1 50-28-2 5757

Interventional clinical trials:

(show top 50) (show all 86)
# Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-protocol is Identical to Study No. 0519-10-TLV- Minors' Adjusted Version Unknown status NCT02354560 Phase 4 Erythromycin
2 Erythromycin as a Novel Therapy Against Familial Adenomatous Polyposis and Sporadic Colorectal Cancer by APC Nonsense Mutation Readthrough. Unknown status NCT02175914 Phase 4 Erythromycin
3 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Rofecoxib in Familial Adenomatous Polyposis (FAP) Terminated NCT00140894 Phase 4 MK0966; rofecoxib / Duration of Treatment: 24 weeks;Comparator: placebo / Duration of Treatment: 24 weeks
4 Efficiency of Ursodesoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis Patients. URSOPAF Unknown status NCT00134758 Phase 2, Phase 3 Ursodeoxycholic acid;Placebo
5 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
6 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
7 Prevention of Sporadic Colorectal Adenomas With Celecoxib Completed NCT00005094 Phase 3 celecoxib
8 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
9 The Effect of Berberine Hydrochloride in Familial Adenomatous Polyposis:a Prospective, Randomized, Double Blind, Placebo-controlled, Multicenter Clinical Trial Recruiting NCT03333265 Phase 2, Phase 3 100mg Berberine hydrochloride;300mg Berberine hydrochloride;Placebo Oral Tablet
10 Randomised, Double-blind, Placebo-controlled Study of the Efficacy, Safety and Tolerability of EPA-FFA Gastro-resistant Capsules, in Patients With Familial Adenomatous Polyposis (FAP) Recruiting NCT03806426 Phase 3 Eicosapentaenoic acid free fatty acid (EPA-FFA);Placebo
11 Phase III Trial of the Safety and Efficacy of Eflornithine Combined With Sulindac Compared to Eflornithine, Sulindac as Single Agents in Patients With Familial Adenomatous Polyposis Active, not recruiting NCT01483144 Phase 3 Eflornithine plus Sulindac;Eflornithine and Placebo;Sulindac and Placebo
12 A Phase III Placebo-Controlled Trial Of Celecoxib In Genotype Positive Subjects With Familial Adenomatous Polyposis Terminated NCT00585312 Phase 3 Celecoxib;Placebo
13 Coxib-inhibition of Duodenal Polyp Growth in Familial Adenomatous Polyposis Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
14 Prospective Randomized Control Study on Effect of Post Operative Loperamide in Decreasing Readmission for Dehydration in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
15 A Randomized Phase III 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
16 Adenoma-Carcinoma Sequence in the Ileal Pouch Anal Anastomosis in Patients With Familial Adenomatous Polyposis: Studies on Luminal and Mucosal Risk Factors and Chemoprevention Unknown status NCT00319007 Phase 2 Sulindac (drug);VSL#3 (probiotic);Inulin (probiotic)
17 Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00641147 Phase 2 Curcumin
18 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
19 Sirolimus for the Treatment of Severe Intestinal Polyposis in Patients With Familial Adenomatous Polyposis (FAP): a Pilot Study Completed NCT03095703 Phase 2 Sirolimus
20 Celecoxib In Biomarker Modulation Of Oral Precancerous Lesions: A Pilot Study Completed NCT00052611 Phase 2 Celecoxib
21 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Recruiting NCT01725490 Phase 2 Metformin;Metformin;Placebo
22 Phase II Trial of Weekly Erlotinib Dosing to Reduce Duodenal Polyp Burden Associated With Familial Adenomatous Polyposis Recruiting NCT02961374 Phase 2 Erlotinib;Erlotinib Hydrochloride
23 Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis Recruiting NCT03966742 Phase 2
24 Molecular Targeting of 15-LOX-1 for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
25 Efficacy of Wholistic Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis A Randomized, Double Blinded, Placebo Controlled Study Not yet recruiting NCT03061591 Phase 2
26 A Two-Arm Phase II Chemoprevention Trial in Adenomatous Polyposis Coli Patients Terminated NCT00033371 Phase 2 Celecoxib;eflornithine
27 A Pilot Phase II Trial of Celecoxib in Patients With Grade 2 or 3 Endometrioid-type, Clear Cell, and Papillary Serous Uterine Cancers Terminated NCT00231829 Phase 2 Celecoxib
28 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis (FAP) Patients Withdrawn NCT00248053 Phase 2 curcumin
29 A Pilot Study To Investigate the Biological Modulation of Familial Adenomatous Polyposis (FAP) by Lyophilized Black Raspberries Completed NCT00770991 Phase 1 Black raspberry (BRB) Slurry;Black Raspberry (BRB) Suppositories;Black Raspberry (BRB) Placebo Slurry
30 Visualization of a VEGF-targeted Near-Infrared Fluorescent Tracer in Patients With Familial Adenomatous Polyposis During Fluorescence Endoscopy A Single Center Pilot Intervention Study Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
31 Phase I Pilot Toxicity/Methods Validation Study of Celecoxib in Genotype-Positive Children With Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
32 A Pilot, Open-Label, Randomized, Crossover, Pharmacokinetic Study Of Enhanced Bioavailability Formulations Of Celecoxib In Healthy Volunteers Completed NCT00813241 Phase 1 celecoxib reference formulation;celecoxib test formulation A1;celecoxib test formulation B2;celecoxib test formulation C1
33 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1 Acetylsalicylic acid
34 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
35 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis: A Prospective Clinical, Immunopathologic and Molecular Analysis Unknown status NCT02656134
36 Adenoma Detection Rate in Rectal Remnants of Familial Polyposis (FAP) Patients Using Standard (White Light), Auto-Fluorescence (AFI), Narrow Band Imaging (NBI) and Chromoscopic Endoscopy Unknown status NCT00253812
37 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
38 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Triple therapy for H. pylori infection;Cox-2 inhibitor
39 Telomeric Abnormalities in Benign and Malignant Colorectal Diseases by Fluorescent in Situ Hybridization Technique Unknown status NCT03208777
40 The 'SILVERMAN1' Trial Single Incision Laparoscopic Versus Existing Resection (Minimal Access) for Neoplasia Unknown status NCT01319890
41 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
42 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Calcumin (Curcumin)
43 Endoscopic Papillectomy for Ampullary Adenomas: an Italian Single Centre Experience Completed NCT03494543
44 In Modern Era, Recurrent Desmoids Determine Outcome in Patients With Gardner Syndrome: A Cohort Study of Three Generations of an Adenomatous Polyposis Coli (APC-) Mutation-Positive Family Across 30 Years Completed NCT01286662
45 Familial Factors in the Development of Colon Cancer Completed NCT00055848
46 Single Incision Laparoscopic Surgery (SILS) for Colorectal Disease - A Novel Approach Completed NCT01656746
47 Postoperative Complications in Patients With Inflammatory Bowel Disease: A Retrospective Cohort Study Completed NCT03909542
48 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
49 Vanderbilt Hereditary Colorectal Cancer Registry Completed NCT00675636
50 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542

Search NIH Clinical Center for Familial Adenomatous Polyposis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


celecoxib
Celecoxib

Cochrane evidence based reviews: adenomatous polyposis coli

Genetic Tests for Familial Adenomatous Polyposis

Genetic tests related to Familial Adenomatous Polyposis:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 29 APC
2 Myh-Associated Polyposis 29 MUTYH
3 Familial Multiple Polyposis Syndrome 29

Anatomical Context for Familial Adenomatous Polyposis

MalaCards organs/tissues related to Familial Adenomatous Polyposis:

41
Colon, Thyroid, Testes, Small Intestine, Bone, Breast, Skin

Publications for Familial Adenomatous Polyposis

Articles related to Familial Adenomatous Polyposis:

(show top 50) (show all 6708)
# Title Authors PMID Year
1
Direct ubiquitination of beta-catenin by Siah-1 and regulation by the exchange factor TBL1. 9 38
20181957 2010
2
Promoter methylation of sFRP5 in patients with ovarian clear cell adenocarcinoma. 9 38
20486992 2010
3
Deficiency of the LIM-only protein FHL2 reduces intestinal tumorigenesis in Apc mutant mice. 9 38
20442768 2010
4
Vitamin D receptor ligands, adenomatous polyposis coli, and the vitamin D receptor FokI polymorphism collectively modulate beta-catenin activity in colon cancer cells. 9 38
20043299 2010
5
[Construction of a lentiviral vector of RNA interference against PPARS gene and the establishment of colon cancer cell line KM12C with stable knockdown of PPARdelta expression]. 9 38
20481327 2010
6
APC gene mutations in Chinese familial adenomatous polyposis patients. 9 38
20333795 2010
7
[Detection of APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification]. 9 38
20367965 2010
8
[Gardner fibroma: case report and discussion of a new soft tissue tumor entity]. 9 38
20063100 2010
9
Noncolonic cancer stem cells in bone marrow of colorectal cancer patients. 9 38
19183332 2010
10
Gene hypermethylation in tumor tissue of advanced oral squamous cell carcinoma patients. 9 38
19665921 2009
11
[Effects of cyclooxygenase-2 and proliferating cell nuclear antigen on the onset and development of familial adenomatous polyposis]. 9 38
19895739 2009
12
Hypermethylation of APC promoter 1A is associated with moderate activation of Wnt signalling pathway in a subset of colorectal serrated adenomas. 9 38
19912361 2009
13
Intestinal adenoma formation and MYC activation are regulated by cooperation between MYB and Wnt signaling. 9 38
19609274 2009
14
Upregulation of human DNA binding protein A (dbpA) in gastric cancer cells. 9 38
19749785 2009
15
Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2. 9 38
19221108 2009
16
Reduced axin protein expression is associated with a poor prognosis in patients with squamous cell carcinoma of esophagus. 9 38
19582507 2009
17
Activator protein 2alpha suppresses intestinal tumorigenesis in the Apc(min) mouse. 9 38
19376641 2009
18
Methylated DAPK and APC promoter DNA detection in peripheral blood is significantly associated with apparent residual tumor and outcome. 9 38
19259700 2009
19
The COP9 signalosome mediates beta-catenin degradation by deneddylation and blocks adenomatous polyposis coli destruction via USP15. 9 38
19576224 2009
20
Expression of E-cadherin, beta-catenin and APC protein in canine colorectal tumours. 9 38
19661296 2009
21
Chemoresponsiveness associated with canonical molecular changes in colorectal adenocarcinomas. 9 38
19661324 2009
22
Promoter methylation in APC, RUNX3, and GSTP1 and mortality in prostate cancer patients. 9 38
19470943 2009
23
Host Wnt/beta-catenin pathway triggered by Helicobacter pylori correlates with regression of gastric intestinal metaplasia after H. pylori eradication. 9 38
19369517 2009
24
The presence of circulating total DNA and methylated genes is associated with circulating tumour cells in blood from breast cancer patients. 9 38
19367284 2009
25
High quality assessment of DNA methylation in archival tissues from colorectal cancer patients using quantitative high-resolution melting analysis. 9 38
19179456 2009
26
Microsatellite instability-low colorectal cancer acquires a KRAS mutation during the progression from Dukes' A to Dukes' B. 9 38
19147861 2009
27
Genetic predisposition and environmental risk factors to pancreatic cancer: A review of the literature. 9 38
19150414 2009
28
Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 9 38
19279422 2009
29
The association of methylation in the promoter of APC and MGMT and the prognosis of Taiwanese CRC patients. 9 38
19309276 2009
30
Clonality, founder mutations, and field cancerization in human ulcerative colitis-associated neoplasia. 9 38
19103203 2009
31
Aberrant beta-catenin expression and adenomatous polyposis coli gene mutation in ameloblastoma and odontogenic carcinoma. 9 38
18486530 2009
32
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas. 9 38
19148484 2009
33
COX-2 polymorphisms in patients with familial adenomatous polyposis. 9 38
19544971 2009
34
Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis. 9 38
19593690 2009
35
Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309. 9 38
19728755 2009
36
Label-free global serum proteomic profiling reveals novel celecoxib-modulated proteins in familial adenomatous polyposis patients. 9 38
19451089 2009
37
The role of APC and beta-catenin in the aetiology of aggressive fibromatosis (desmoid tumors). 9 38
18722078 2009
38
Expression and significance of adenomatous polyposis coli, beta-catenin, E-cadherin and cyclin D1 in esophageal squamous cell carcinoma assessed by tissue microarray. 9 38
19448414 2009
39
Increased cyclooxygenase-2 expression in juvenile polyposis syndrome. 9 38
19124115 2009
40
Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations. 9 38
18977219 2008
41
Correlation between beta-catenin widespread nuclear expression and matrix metalloproteinase-7 overexpression in sporadic desmoid tumors. 9 38
18715618 2008
42
APC is essential for targeting phosphorylated beta-catenin to the SCFbeta-TrCP ubiquitin ligase. 9 38
19061640 2008
43
Adenomatous polyposis coli alteration in digestive endocrine tumours: correlation with nuclear translocation of beta-catenin and chromosomal instability. 9 38
18632876 2008
44
A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred. 9 38
18982352 2008
45
The ubiquitin-proteasome system in colorectal cancer. 9 38
18619533 2008
46
Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote. 9 38
18629513 2008
47
Suppression of familial adenomatous polyposis by CP-31398, a TP53 modulator, in APCmin/+ mice. 9 38
18794156 2008
48
Immunohistochemical and molecular features of sporadic and FAP-associated duodenal adenomas of the ampullary and nonampullary mucosa. 9 38
18670349 2008
49
Down-regulation of DNMT3b in PC3 cells effects locus-specific DNA methylation, and represses cellular growth and migration. 9 38
18798999 2008
50
Vitamin D and Wnt/beta-catenin pathway in colon cancer: role and regulation of DICKKOPF genes. 9 38
19035286 2008

Variations for Familial Adenomatous Polyposis

ClinVar genetic disease variations for Familial Adenomatous Polyposis:

6 (show top 50) (show all 895)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MUTYH NM_001128425.1(MUTYH): c.393_406dup (p.Met136fs) duplication Pathogenic rs1553129652 1:45798825-45798838 1:45333153-45333166
2 MUTYH NM_001128425.1(MUTYH): c.586G> T (p.Glu196Ter) single nucleotide variant Pathogenic rs745921592 1:45798350-45798350 1:45332678-45332678
3 MUTYH NM_001128425.1(MUTYH): c.1267G> T (p.Glu423Ter) single nucleotide variant Pathogenic rs1060501321 1:45797148-45797148 1:45331476-45331476
4 MUTYH NM_001128425.1(MUTYH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs766420907 1:45797175-45797175 1:45331503-45331503
5 MUTYH NM_001128425.1(MUTYH): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1060501325 1:45797134-45797134 1:45331462-45331462
6 MUTYH NM_001128425.1(MUTYH): c.102del (p.Arg36fs) deletion Pathogenic rs1060501336 1:45800118-45800118 1:45334446-45334446
7 MUTYH NM_001128425.1(MUTYH): c.716_721delinsCAGCTGCT (p.Val239fs) indel Pathogenic rs1064793197 1:45798130-45798135 1:45332458-45332463
8 APC NM_000038.6(APC): c.1657del (p.Trp553fs) deletion Pathogenic rs1114167594 5:112164583-112164583 5:112828886-112828886
9 APC NM_000038.6(APC): c.1958+1G> A single nucleotide variant Pathogenic rs1114167569 5:112170863-112170863 5:112835166-112835166
10 MUTYH NC_000001.10: g.(?_45794978)_(45798996_?)del deletion Pathogenic 1:45794978-45798996 1:45329306-45333324
11 APC NM_000038.6(APC): c.1886T> G (p.Leu629Ter) single nucleotide variant Pathogenic rs1019221239 5:112170790-112170790 5:112835093-112835093
12 APC NM_000038.6(APC): c.2802_2805del (p.Tyr935fs) deletion Pathogenic rs1131691143 5:112174093-112174096 5:112838396-112838399
13 MUTYH NM_001128425.1(MUTYH): c.859del (p.Ala287fs) deletion Pathogenic rs761468459 1:45797912-45797912 1:45332240-45332240
14 APC NM_000038.6(APC): c.889_890AC[2] (p.His298fs) short repeat Pathogenic rs1114167567 5:112151250-112151251 5:112815553-112815554
15 APC NM_000038.5(APC): c.-85-?_-19+?del deletion Pathogenic
16 APC NM_000038.5(APC): c.-85-?_834+?del deletion Pathogenic
17 APC NM_000038.5(APC): c.-85-?_1743+?del deletion Pathogenic
18 APC NM_000038.5(APC): c.423-?_729+?del deletion Pathogenic
19 APC NM_000038.5(APC): c.1409-?_1626+?del deletion Pathogenic
20 APC NM_000038.6(APC): c.203T> G (p.Leu68Ter) single nucleotide variant Pathogenic rs1554069549 5:112102090-112102090 5:112766393-112766393
21 APC NM_000038.6(APC): c.220+1G> A single nucleotide variant Pathogenic rs1554069570 5:112102108-112102108 5:112766411-112766411
22 APC NM_000038.6(APC): c.325G> T (p.Glu109Ter) single nucleotide variant Pathogenic rs1414406816 5:112102990-112102990 5:112767293-112767293
23 APC NM_000038.6(APC): c.346_359del (p.Gly116fs) deletion Pathogenic rs1554069805 5:112103011-112103024 5:112767314-112767327
24 APC NM_000038.6(APC): c.458del (p.Lys153fs) deletion Pathogenic rs1554071521 5:112111361-112111361 5:112775664-112775664
25 APC NM_000038.6(APC): c.472dup (p.Tyr158fs) duplication Pathogenic rs1554071555 5:112111375-112111375 5:112775678-112775678
26 APC NM_000038.6(APC): c.492_495del (p.Asn164fs) deletion Pathogenic rs1554071590 5:112111395-112111398 5:112775698-112775701
27 APC NM_000038.6(APC): c.502del (p.Arg168fs) deletion Pathogenic rs1554071602 5:112111405-112111405 5:112775708-112775708
28 APC NM_000038.6(APC): c.539T> A (p.Leu180Ter) single nucleotide variant Pathogenic rs1554072560 5:112116494-112116494 5:112780797-112780797
29 APC NM_000038.6(APC): c.594dup (p.Ala199fs) duplication Pathogenic rs1554072616 5:112116549-112116549 5:112780852-112780852
30 APC NM_000038.6(APC): c.646-1G> C single nucleotide variant Pathogenic rs78847145 5:112128142-112128142 5:112792445-112792445
31 APC NM_000038.6(APC): c.667C> T (p.Gln223Ter) single nucleotide variant Pathogenic rs1554074738 5:112128164-112128164 5:112792467-112792467
32 APC NM_000038.6(APC): c.685delinsTT (p.Leu229fs) indel Pathogenic rs1554074762 5:112128182-112128182 5:112792485-112792485
33 APC NM_000038.6(APC): c.706C> T (p.Gln236Ter) single nucleotide variant Pathogenic rs1554074786 5:112128203-112128203 5:112792506-112792506
34 APC NM_000038.6(APC): c.730-1G> C single nucleotide variant Pathogenic rs1554076129 5:112136975-112136975 5:112801278-112801278
35 APC NM_000038.6(APC): c.1048_1141del (p.Ser350fs) deletion Pathogenic rs1554079988 5:112154777-112154870 5:112819080-112819173
36 APC NM_000038.6(APC): c.1213del (p.Arg405fs) deletion Pathogenic rs1554080070 5:112154942-112154942 5:112819245-112819245
37 APC NM_000038.6(APC): c.1343dup (p.Ala449fs) duplication Pathogenic rs1554080695 5:112157623-112157623 5:112821926-112821926
38 APC NM_000038.6(APC): c.1348_1349GT[5] (p.Leu453fs) short repeat Pathogenic rs1554080698 5:112157634-112157635 5:112821937-112821938
39 APC NM_000038.6(APC): c.1370C> A (p.Ser457Ter) single nucleotide variant Pathogenic rs1060503333 5:112157650-112157650 5:112821953-112821953
40 APC NM_000038.6(APC): c.1409-1G> A single nucleotide variant Pathogenic rs863225313 5:112162804-112162804 5:112827107-112827107
41 APC NM_000038.6(APC): c.1605_1606del (p.Glu536fs) deletion Pathogenic rs1554081906 5:112163682-112163683 5:112827985-112827986
42 APC NM_000038.6(APC): c.1766_1767dup (p.Ser590Ter) duplication Pathogenic rs1554083122 5:112170670-112170671 5:112834973-112834974
43 APC NM_000038.6(APC): c.1779G> A (p.Trp593Ter) single nucleotide variant Pathogenic rs1554083132 5:112170683-112170683 5:112834986-112834986
44 APC NM_000038.6(APC): c.1787C> G (p.Ser596Ter) single nucleotide variant Pathogenic rs1554083134 5:112170691-112170691 5:112834994-112834994
45 APC NM_000038.6(APC): c.1970_1971GA[2] (p.Asn659fs) short repeat Pathogenic rs863225322 5:112173265-112173266 5:112837568-112837569
46 APC NM_000038.6(APC): c.2093T> G (p.Leu698Ter) single nucleotide variant Pathogenic rs137854582 5:112173384-112173384 5:112837687-112837687
47 APC NM_000038.6(APC): c.2186_2187insGCAGCTT (p.Met730fs) insertion Pathogenic rs1554083998 5:112173477-112173478 5:112837780-112837781
48 APC NM_000038.6(APC): c.2694del (p.His898fs) deletion Pathogenic rs1554084389 5:112173985-112173985 5:112838288-112838288
49 APC NM_000038.6(APC): c.2819del (p.Ser940fs) deletion Pathogenic rs1554084508 5:112174110-112174110 5:112838413-112838413
50 APC NM_000038.6(APC): c.2895_2896del (p.Asn965fs) deletion Pathogenic rs1554084576 5:112174186-112174187 5:112838489-112838490

Cosmic variations for Familial Adenomatous Polyposis:

9 (show top 50) (show all 95)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 12
2 COSM45138 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 12
3 COSM45076 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 12
4 COSM43606 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 12
5 COSM10870 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 12
6 COSM43687 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 12
7 COSM10648 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 12
8 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 12
9 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 12
10 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 12
11 COSM21355 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 12
12 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 12
13 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 12
14 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 12
15 COSM14122 SMAD4 large intestine,rectum,adenoma,NS c.1082G>A p.R361H 18:51065549-51065549 12
16 COSM5985099 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 12
17 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 12
18 COSM584 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 12
19 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 12
20 COSM520 KRAS large intestine,rectum,adenoma,NS c.35G>T p.G12V 12:25245350-25245350 12
21 COSM521 KRAS large intestine,rectum,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 12
22 COSM532 KRAS large intestine,rectum,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 12
23 COSM553 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 12
24 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 12
25 COSM554 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 12
26 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 12
27 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 12
28 COSM555 KRAS large intestine,rectum,adenoma,NS c.183A>T p.Q61H 12:25227341-25227341 12
29 COSM27895 GNAS large intestine,rectum,adenoma,NS c.602G>A p.R201H 20:58909366-58909366 12
30 COSM27058 FBXW7 large intestine,rectum,adenoma,NS c.1436G>T p.R479L 4:152326214-152326214 12
31 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 12
32 COSM22975 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 12
33 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 12
34 COSM30597 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 12
35 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 12
36 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 12
37 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 12
38 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 12
39 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 12
40 COSM5687 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 12
41 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 12
42 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 12
43 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 12
44 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 12
45 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 12
46 COSM5682 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 12
47 COSM21493 BRAF large intestine,colon,adenoma,NS c.1766C>T p.T589I 7:140753369-140753369 12
48 COSM476 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 7:140753336-140753336 12
49 COSM21492 BRAF large intestine,colon,adenoma,NS c.1357C>A p.P453T 7:140781651-140781651 12
50 COSM467 BRAF large intestine,colon,adenoma,NS c.1781A>G p.D594G 7:140753354-140753354 12

Expression for Familial Adenomatous Polyposis

Search GEO for disease gene expression data for Familial Adenomatous Polyposis.

Pathways for Familial Adenomatous Polyposis

Pathways related to Familial Adenomatous Polyposis according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310
2 Regulation of actin cytoskeleton hsa04810
3 Pathways in cancer hsa05200
4 Colorectal cancer hsa05210
5 Base excision repair hsa03410

Pathways related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 TP53 PTGS2 MYC KRAS HNF4A GSK3B
2
Show member pathways
13.29 TP53 NTHL1 MUTYH MSH6 MSH3 MSH2
3
Show member pathways
13.08 TP53 PTGS2 MYC KRAS GSK3B CTNNB1
4
Show member pathways
13.07 TP53 KRAS HNF4A GSK3B CTNNB1 CDH1
5
Show member pathways
13.04 TP53 PTGS2 MYC KRAS GSK3B CTNNB1
6
Show member pathways
13.03 TP53 PTGS2 NTHL1 MSH6 MSH3 MSH2
7
Show member pathways
12.84 TP53 PTGS2 KRAS GSK3B CTNNB1 CDH1
8
Show member pathways
12.8 TP53 NTHL1 MYC MSH6 MSH3 MSH2
9
Show member pathways
12.77 TP53 MSH6 KRAS GSK3B CDH1 CCND1
10
Show member pathways
12.73 TP53 MYC MLH1 KRAS GSK3B CTNNB1
11
Show member pathways
12.67 TP53 MYC MSH2 KRAS CTNNB1
12
Show member pathways
12.66 TP53 MYC KRAS GSK3B CCND1
13 12.65 TP53 PTGS2 MYC KRAS CCND1 APC2
14 12.63 TP53 MUTYH MSH6 MSH2 MLH1 MAPRE1
15
Show member pathways
12.6 HNF4A CTNNB1 CCND1 AXIN1 APC
16
Show member pathways
12.58 TP53 KRAS GSK3B AXIN1 APC
17
Show member pathways
12.57 TP53 GSK3B CTNNB1 AXIN1 APC2 APC
18
Show member pathways
12.55 HNF4A GSK3B CTNNB1 AXIN1 APC
19
Show member pathways
12.55 TP53 MYC MSH6 MSH3 MSH2 MLH1
20 12.5 TP53 MYC GSK3B CDH1 CCND1 APC
21
Show member pathways
12.48 TP53 KRAS GSK3B CTNNB1
22 12.48 TP53 MYC KRAS GSK3B CTNNB1 CCND1
23
Show member pathways
12.47 TP53 HNF4A GSK3B CCND1
24
Show member pathways
12.45 PTGS2 KRAS GSK3B CTNNB1
25
Show member pathways
12.45 KRAS GSK3B CTNNB1 CDH1 APC
26
Show member pathways
12.44 TP53 MYC GSK3B CCND1
27
Show member pathways
12.41 TP53 MYC GSK3B CTNNB1 CCND1 AXIN1
28 12.39 TP53 MYC KRAS CTNNB1 CCND1
29
Show member pathways
12.38 MYC GSK3B CTNNB1 CCND1
30 12.35 TP53 PTGS2 MYC HNF4A GSK3B CTNNB1
31 12.31 GSK3B CTNNB1 AXIN1 APC
32
Show member pathways
12.28 TP53 MYC KRAS GSK3B CCND1
33 12.27 TP53 MYC MSH6 MSH2 KRAS CTNNB1
34 12.25 TP53 MYC KRAS CCND1
35 12.25 MYC GSK3B CTNNB1 CDH1 CCND1 AXIN1
36 12.23 TP53 MYC KRAS GSK3B CCND1
37 12.22 GSK3B CTNNB1 CDH1 AXIN1 APC
38 12.22 TP53 PTGS2 MYC MSH6 MSH3 MSH2
39 12.21 MYC KRAS GSK3B CTNNB1 AXIN1 APC2
40 12.19 TP53 PTGS2 MYC MSH6 MSH3 MSH2
41 12.15 TP53 MYC CCND1 AXIN1
42 12.15 TP53 MSH2 MLH1 APC
43 12.15 KRAS GSK3B CTNNB1 CDH1 AXIN1 APC
44 12.13 TP53 MYC KRAS GSK3B CTNNB1 CCND1
45 12.09 TP53 PTGS2 MYC CCND1
46 12.07 TP53 MYC KRAS GSK3B CTNNB1 CCND1
47 12.06 TP53 PTGS2 MYC CCND1
48 12.06 MYC GSK3B CTNNB1 CDH1 AXIN1
49
Show member pathways
12.06 TP53 PTGS2 MYC HNF4A GSK3B CTNNB1
50 12.04 GSK3B CTNNB1 AXIN1 APC

GO Terms for Familial Adenomatous Polyposis

Cellular components related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 9.8 MCC CTNNB1 CDH1 APC
2 lateral plasma membrane GO:0016328 9.67 CTNNB1 CDH1 AXIN1 APC
3 cytoplasmic microtubule GO:0005881 9.65 MAPRE1 APC2 APC
4 catenin complex GO:0016342 9.56 CTNNB1 CDH1 APC2 APC
5 cell projection membrane GO:0031253 9.52 MAPRE1 CTNNB1
6 flotillin complex GO:0016600 9.51 CTNNB1 CDH1
7 Wnt signalosome GO:1990909 9.5 GSK3B CTNNB1 APC
8 MutSalpha complex GO:0032301 9.43 MSH6 MSH2
9 MutSbeta complex GO:0032302 9.4 MSH3 MSH2
10 mismatch repair complex GO:0032300 9.26 MSH6 MSH3 MSH2 MLH1
11 beta-catenin destruction complex GO:0030877 9.02 GSK3B CTNNB1 AXIN1 APC2 APC
12 cytoplasm GO:0005737 10.38 TP53 PTGS2 MYC MCC MAPRE1 KRAS
13 nucleus GO:0005634 10.33 TP53 NTHL1 MYC MUTYH MSH6 MSH3
14 nucleoplasm GO:0005654 10 TP53 NTHL1 MYC MUTYH MSH6 MSH3

Biological processes related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.91 TP53 MYC MSH2 APC
2 response to estradiol GO:0032355 9.89 PTGS2 MYC CTNNB1 CCND1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.89 MCC GSK3B AXIN1 APC2 APC
4 response to organic substance GO:0010033 9.87 PTGS2 CDH1 CCND1
5 response to glucocorticoid GO:0051384 9.85 PTGS2 KRAS CCND1
6 positive regulation of protein catabolic process GO:0045732 9.85 GSK3B AXIN1 APC2 APC
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.82 MSH6 MSH2 MLH1
8 cellular response to UV GO:0034644 9.82 TP53 PTGS2 MYC
9 regulation of cell differentiation GO:0045595 9.8 CTNNB1 APC2 APC
10 base-excision repair GO:0006284 9.79 TP53 NTHL1 MUTYH
11 cell fate specification GO:0001708 9.75 CTNNB1 APC2 APC
12 somatic hypermutation of immunoglobulin genes GO:0016446 9.74 MSH6 MSH2 MLH1
13 negative regulation of DNA recombination GO:0045910 9.73 MSH6 MSH3 MSH2
14 isotype switching GO:0045190 9.7 MSH6 MSH2 MLH1
15 Wnt signaling pathway GO:0016055 9.7 MCC GSK3B CTNNB1 CCND1 AXIN1 APC2
16 ovulation GO:0030728 9.69 PTGS2 MYC
17 regulation of microtubule-based process GO:0032886 9.69 GSK3B APC
18 determination of adult lifespan GO:0008340 9.69 TP53 MSH6 MSH2
19 ER overload response GO:0006983 9.68 TP53 GSK3B
20 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 MSH2 MLH1
21 mitotic G1 DNA damage checkpoint GO:0031571 9.67 TP53 CCND1
22 entry of bacterium into host cell GO:0035635 9.67 CTNNB1 CDH1
23 positive regulation of protein localization to centrosome GO:1904781 9.65 GSK3B APC
24 re-entry into mitotic cell cycle GO:0000320 9.65 MYC CCND1
25 positive regulation of helicase activity GO:0051096 9.65 MSH6 MSH3 MSH2
26 positive regulation of isotype switching to IgA isotypes GO:0048298 9.64 MSH2 MLH1
27 cellular response to indole-3-methanol GO:0071681 9.63 CTNNB1 CDH1
28 maintenance of DNA repeat elements GO:0043570 9.61 MSH6 MSH3 MSH2
29 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.58 MSH2 MLH1
30 beta-catenin destruction complex assembly GO:1904885 9.58 GSK3B AXIN1 APC
31 beta-catenin destruction complex disassembly GO:1904886 9.56 GSK3B CTNNB1 AXIN1 APC
32 somatic recombination of immunoglobulin gene segments GO:0016447 9.54 MSH6 MSH2 MLH1
33 mitotic recombination GO:0006312 9.38 MSH3
34 pyrimidine dimer repair GO:0006290 9.36 MSH6
35 mismatch repair GO:0006298 9.35 MUTYH MSH6 MSH3 MSH2 MLH1
36 meiotic mismatch repair GO:0000710 9.32 MSH6 MSH3
37 cellular response to DNA damage stimulus GO:0006974 9.32 TP53 NTHL1 MYC MUTYH MSH6 MSH3
38 replication fork arrest GO:0043111 9.16 MSH3
39 positive regulation of transcription, DNA-templated GO:0045893 10.1 TP53 MYC HNF4A CTNNB1 CDH1 AXIN1
40 positive regulation of cell proliferation GO:0008284 10.09 PTGS2 MYC KRAS CTNNB1 CCND1
41 negative regulation of cell proliferation GO:0008285 10.07 TP53 PTGS2 HNF4A CTNNB1 APC
42 positive regulation of gene expression GO:0010628 10.06 TP53 MYC KRAS GSK3B CTNNB1
43 DNA repair GO:0006281 10.01 NTHL1 MUTYH MSH6 MSH3 MSH2 MLH1
44 response to drug GO:0042493 10 PTGS2 MYC CTNNB1 CDH1 CCND1
45 cytokine-mediated signaling pathway GO:0019221 10 TP53 PTGS2 MYC KRAS CCND1

Molecular functions related to Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.92 TP53 MSH2 MAPRE1 GSK3B CTNNB1 CCND1
2 double-stranded DNA binding GO:0003690 9.86 NTHL1 MYC MSH6 MSH2
3 beta-catenin binding GO:0008013 9.83 GSK3B CDH1 AXIN1 APC2 APC
4 RNA polymerase II transcription factor binding GO:0001085 9.75 TP53 GSK3B CTNNB1
5 DNA-dependent ATPase activity GO:0008094 9.74 MSH6 MSH3 MSH2
6 gamma-catenin binding GO:0045295 9.67 CDH1 APC2 APC
7 MutLalpha complex binding GO:0032405 9.65 MUTYH MSH6 MSH2
8 I-SMAD binding GO:0070411 9.62 CTNNB1 AXIN1
9 DNA N-glycosylase activity GO:0019104 9.61 NTHL1 MUTYH
10 damaged DNA binding GO:0003684 9.61 MSH6 MSH2
11 MutSalpha complex binding GO:0032407 9.59 MUTYH MLH1
12 mismatched DNA binding GO:0030983 9.56 MSH6 MSH3 MSH2 MLH1
13 dinucleotide insertion or deletion binding GO:0032139 9.54 MSH3 MSH2
14 single guanine insertion binding GO:0032142 9.54 MSH6 MSH3 MSH2
15 dinucleotide repeat insertion binding GO:0032181 9.51 MSH3 MSH2
16 single thymine insertion binding GO:0032143 9.46 MSH6 MSH2
17 oxidized purine DNA binding GO:0032357 9.46 MUTYH MSH6 MSH3 MSH2
18 centromeric DNA binding GO:0019237 9.28 MSH2
19 enzyme binding GO:0019899 9.28 TP53 PTGS2 MSH6 MSH3 MSH2 MLH1
20 guanine/thymine mispair binding GO:0032137 9.26 MSH6 MSH3 MSH2 MLH1
21 double-strand/single-strand DNA junction binding GO:0000406 9.25 MSH2
22 protein binding GO:0005515 10.4 TP53 PTGS2 NTHL1 MYC MUTYH MSH6
23 protein homodimerization activity GO:0042803 10.07 PTGS2 MSH6 MSH3 MSH2 HNF4A CDH1
24 chromatin binding GO:0003682 10 TP53 MSH6 MSH2 MLH1 CTNNB1

Sources for Familial Adenomatous Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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