MCID: FML011
MIFTS: 71

Familial Adenomatous Polyposis

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

Aliases & Classifications for Familial Adenomatous Polyposis

MalaCards integrated aliases for Familial Adenomatous Polyposis:

Name: Familial Adenomatous Polyposis 12 72 72 49 24 36 51 14
Adenomatous Polyposis Coli 49 24 41 69
Familial Multiple Polyposis Syndrome 24 28
Adenomatous Polyposis of the Colon 12 49
Familial Intestinal Polyposis 49 69
Fap 49 24
Familial Adenomatous Polyposis of the Colon 49
Adenomatous Familial Polyposis Syndrome 24
Polyposis, Adenomatous Intestinal 49
Familial Polyposis of the Colon 49
Adenomatous Familial Polyposis 24
Familial Multiple Polyposis 49
Hereditary Polyposis Coli 49
Mutyh-Associate Polyposis 69
Myh-Associated Polyposis 24
Fpc 49

Classifications:



Summaries for Familial Adenomatous Polyposis

NIH Rare Diseases : 49 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. Last updated: 11/26/2014

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 delayed eruption of teeth, multiple lipomas and colon cancer. An important gene associated with Familial Adenomatous Polyposis is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Wnt signaling pathway and Regulation of actin cytoskeleton. The drugs Erythromycin and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and thyroid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 An autosomal dominant disease that is 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.

Genetics Home Reference : 24 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.

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 207)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 1 34.7 APC CTNNB1
2 attenuated familial adenomatous polyposis 34.3 APC MSH2 MSH6 MUTYH
3 mutyh-associated polyposis 33.1 APC KRAS MUTYH SMAD4 TP53
4 desmoid disease, hereditary 32.8 APC CTNNB1
5 thyroid cancer, nonmedullary, 1 32.7 APC CCND1 CDH1 CTNNB1
6 medulloblastoma 32.4 APC AXIN1 CTNNB1 MYC TP53
7 mismatch repair cancer syndrome 32.3 APC CTNNB1 MLH1 MSH2 MSH6
8 colitis 31.1 CTNNB1 MLH1 MSH2 SMAD4
9 gastric cancer 31.0 APC CCND1 CDH1 CTNNB1 KRAS MLH1
10 peutz-jeghers syndrome 30.6 APC CTNNB1 SMAD4 TP53
11 periampullary adenoma 30.4 APC KRAS
12 ureteral obstruction 30.4 CTNNB1 PTGS2 TP53
13 thyroid cancer 30.4 CCND1 CDH1 CTNNB1 KRAS MYC TP53
14 adenoma 30.3 APC CCND1 CTNNB1 KRAS MLH1 MSH2
15 colorectal adenoma 30.2 CTNNB1 KRAS MLH1 MSH2 MUTYH PTGS2
16 gastric adenocarcinoma 30.1 CDH1 CTNNB1 MLH1 MYC PTGS2 SMAD4
17 muir-torre syndrome 30.0 MLH1 MSH2 MSH6 MUTYH
18 adenocarcinoma 29.9 CCND1 CDH1 CTNNB1 KRAS MLH1 MSH2
19 familial colorectal cancer 29.9 APC CDH1 MLH1 MSH2 MUTYH TP53
20 lynch syndrome 29.6 APC CCND1 CTNNB1 KRAS MLH1 MSH2
21 pancreatic cancer 29.4 CCND1 CDH1 CTNNB1 KRAS PTGS2 SMAD4
22 colorectal adenocarcinoma 29.0 CDH1 CTNNB1 KRAS MLH1 MSH2 MSH6
23 colonic benign neoplasm 28.7 APC CTNNB1 KRAS MAPRE1 MCC MLH1
24 ovarian cancer 28.7 CCND1 CDH1 CTNNB1 KRAS MLH1 MSH2
25 hepatocellular carcinoma 28.3 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
26 colorectal cancer 26.6 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
27 familial adenomatous polyposis 3 12.5
28 familial adenomatous polyposis 4 12.5
29 familial adenomatous polyposis 2 12.5
30 familial adenomatous polyposis due to 5q22.2 microdeletion 12.2
31 axin2-related attenuated familial adenomatous polyposis 12.2
32 desmoid tumor 11.6
33 hepatoblastoma 11.5
34 thyroid cancer, nonmedullary, 2 11.1
35 thyroid cancer, nonmedullary, 3 11.1
36 familial stomach cancer 11.1
37 duodenitis 10.7
38 thyroiditis 10.5
39 balanitis xerotica obliterans 10.5 CCND1 PTGS2 TP53
40 uterine carcinosarcoma 10.5 CTNNB1 PTGS2 TP53
41 ulcerative colitis 10.5
42 keratocystic odontogenic tumor 10.5 CCND1 PTGS2 TP53
43 hemimegalencephaly 10.5 CCND1 CTNNB1 MYC
44 signet ring cell adenocarcinoma 10.5 CDH1 CTNNB1 TP53
45 protoplasmic astrocytoma 10.5 PTGS2 TP53
46 anal squamous cell carcinoma 10.5 APC MLH1 TP53
47 adult hepatocellular carcinoma 10.5 AXIN1 CTNNB1 TP53
48 pre-malignant neoplasm 10.5 CCND1 CDH1 TP53
49 cerebral convexity meningioma 10.5 CDH1 TP53
50 atypical polypoid adenomyoma 10.4 CTNNB1 MLH1 MSH2

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 delayed eruption of teeth 31 occasional (7.5%) HP:0000684
2 multiple lipomas 31 occasional (7.5%) HP:0001012
3 colon cancer 31 frequent (33%) HP:0003003
4 multiple gastric polyps 31 hallmark (90%) HP:0004394
5 duodenal polyposis 31 hallmark (90%) HP:0004783
6 adenomatous colonic polyposis 31 hallmark (90%) HP:0005227
7 irregular hyperpigmentation 31 occasional (7.5%) HP:0007400
8 fibroma 31 occasional (7.5%) HP:0010614
9 odontoma 31 occasional (7.5%) HP:0011068
10 increased number of teeth 31 occasional (7.5%) HP:0011069
11 neoplasm of the central nervous system 31 occasional (7.5%) HP:0100006

UMLS symptoms related to Familial Adenomatous Polyposis:


diarrhea, abdominal pain

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

25 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.19 SMAD4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.19 SMAD4 CTNNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.19 CTNNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.19 MLH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.19 MLH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.19 APC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.19 MLH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.19 APC CTNNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.19 APC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.19 CTNNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.19 APC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.19 SMAD4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.19 SMAD4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.19 APC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.19 SMAD4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.19 SMAD4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.19 SMAD4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.19 CTNNB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.19 APC CTNNB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.19 SMAD4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.19 CTNNB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.19 SMAD4 CTNNB1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.19 MLH1 APC SMAD4 CTNNB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.19 MLH1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.19 CTNNB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.19 SMAD4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.19 MLH1
28 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 GSK3B MCC MSH2 SMAD4 APC AXIN1

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

43 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.57 CDH1 GSK3B CTNNB1 HNF4A MLH1 KRAS
2 homeostasis/metabolism MP:0005376 10.46 CTNNB1 CDH1 GSK3B HNF4A MLH1 KRAS
3 digestive/alimentary MP:0005381 10.44 CDH1 GSK3B CTNNB1 MLH1 KRAS MSH2
4 growth/size/body region MP:0005378 10.42 GSK3B CCND1 CTNNB1 CDH1 HNF4A KRAS
5 mortality/aging MP:0010768 10.42 CTNNB1 CDH1 GSK3B HNF4A MLH1 KRAS
6 behavior/neurological MP:0005386 10.4 CCND1 CTNNB1 KRAS GSK3B PTGS1 MYC
7 cardiovascular system MP:0005385 10.4 CCND1 CTNNB1 CDH1 GSK3B KRAS PTGS1
8 endocrine/exocrine gland MP:0005379 10.36 CTNNB1 CDH1 GSK3B MLH1 KRAS PTGS1
9 integument MP:0010771 10.35 CDH1 CTNNB1 MLH1 KRAS MSH2 PTGS1
10 immune system MP:0005387 10.33 CCND1 CTNNB1 CDH1 KRAS GSK3B MSH2
11 nervous system MP:0003631 10.31 CTNNB1 GSK3B HNF4A KRAS MSH2 MUTYH
12 neoplasm MP:0002006 10.3 CDH1 CTNNB1 MLH1 KRAS MSH2 PTGS1
13 embryo MP:0005380 10.29 CTNNB1 CDH1 HNF4A KRAS MYC APC
14 craniofacial MP:0005382 10.26 CTNNB1 GSK3B KRAS MYC CCND1 AXIN1
15 normal MP:0002873 10.18 CDH1 GSK3B CTNNB1 HNF4A MCC KRAS
16 liver/biliary system MP:0005370 10.16 CTNNB1 HNF4A KRAS GSK3B MYC APC
17 muscle MP:0005369 10.08 CTNNB1 KRAS PTGS1 MYC APC SMAD4
18 limbs/digits/tail MP:0005371 10.07 CTNNB1 KRAS MYC AXIN1 APC SMAD4
19 hearing/vestibular/ear MP:0005377 10.04 CTNNB1 KRAS MYC AXIN1 APC TP53
20 no phenotypic analysis MP:0003012 10.01 CTNNB1 CDH1 KRAS GSK3B MYC APC
21 reproductive system MP:0005389 9.97 CTNNB1 CDH1 MLH1 KRAS PTGS1 MYC
22 renal/urinary system MP:0005367 9.91 CTNNB1 KRAS GSK3B PTGS1 APC AXIN1
23 pigmentation MP:0001186 9.72 CTNNB1 KRAS MYC APC TP53
24 respiratory system MP:0005388 9.56 CCND1 CTNNB1 KRAS MLH1 PTGS1 AXIN1
25 skeleton MP:0005390 9.36 GSK3B CCND1 CTNNB1 KRAS PTGS1 MYC

Drugs & Therapeutics for Familial Adenomatous Polyposis

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, 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 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Erythromycin Estolate Phase 4
6 Erythromycin Ethylsuccinate Phase 4
7 Erythromycin stearate Phase 4
8 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
9 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
10 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
11 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1
13 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
14 Cyclooxygenase 2 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
15 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
16 Peripheral Nervous System 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, Investigational Phase 3,Phase 2 38194-50-2 1548887 5352
19
Loperamide Approved Phase 3 53179-11-6 3955
20
Ornithine Approved, Nutraceutical Phase 3,Phase 2 70-26-8, 3184-13-2 6262
21 Cholagogues and Choleretics Phase 2, Phase 3
22 Antiparasitic Agents Phase 3,Phase 2
23 Antiprotozoal Agents Phase 3,Phase 2
24 Protective Agents Phase 2, Phase 3
25 Antidiarrheals Phase 3
26 Cola Nutraceutical Phase 2, Phase 3, Phase 1
27 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
28
Metformin Approved Phase 2 657-24-9 4091 14219
29
Curcumin Approved, Investigational Phase 2 458-37-7 969516
30
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
31
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
32
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
33
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
34
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
35 Hypoglycemic Agents Phase 2
36 Turmeric extract Phase 2
37
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
38 Protein Kinase Inhibitors Phase 2
39 Retinol palmitate Phase 2
40 Antibiotics, Antitubercular Phase 2,Phase 1
41 Antifungal Agents Phase 2,Phase 1
42 Immunosuppressive Agents Phase 2,Phase 1
43 Antioxidants Phase 2
44 Turmeric Nutraceutical Phase 2
45 retinol Nutraceutical Phase 2
46
Bevacizumab Approved, Investigational Phase 1 216974-75-3
47
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
48 Raspberry Approved, Nutraceutical Phase 1
49 Angiogenesis Inhibitors Phase 1
50 Angiogenesis Modulating Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 72)

# Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Unknown status NCT02354560 Phase 4 Erythromycin
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4 Erythromycin
3 A Study of Rofecoxib in Familial Adenomatous Polyposis (FAP) (0966-205)(TERMINATED) Terminated NCT00140894 Phase 4 MK0966; rofecoxib / Duration of Treatment: 24 weeks;Comparator: placebo / Duration of Treatment: 24 weeks
4 Observational Familial Adenomatous Polyposis Registry Study In Patients Receiving Celecoxib Compared to Control Patients Terminated NCT00151476 Phase 4 Celecoxib
5 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3 Ursodeoxycholic acid;Placebo
6 Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA Completed NCT00510692 Phase 2, Phase 3 Eicosapentanoic Acid (EPA);Placebo
7 Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis Completed NCT00808743 Phase 2, Phase 3 Celecoxib;Ursodeoxycholic acid;Placebo
8 Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps Completed NCT00005094 Phase 3 celecoxib
9 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
10 Primary Chemoprevention of Familial Adenomatous Polyposis With Berberine Hydrochloride Recruiting NCT03333265 Phase 2, Phase 3 100mg Berberine hydrochloride;300mg Berberine hydrochloride;Placebo Oral Tablet
11 Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP) Active, not recruiting NCT01483144 Phase 3 Eflornithine plus Sulindac;Eflornithine and Placebo;Sulindac and Placebo
12 Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) Terminated NCT00585312 Phase 3 Celecoxib;Placebo
13 Coxib-inhibition of Duodenal Polyp Growth in FAP Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
14 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
15 A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3 Eflornithine plus Sulindac;Eflornithine plus Placebo;Sulindac plus Placebo
16 Exisulind in Preventing Polyps in Patients With Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
17 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2 metformin
18 Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis Unknown status NCT00319007 Phase 2 Sulindac (drug);VSL#3 (probiotic);Inulin (probiotic)
19 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2 Curcumin
20 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
21 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Recruiting NCT02961374 Phase 2 Erlotinib Hydrochloride
22 Sirolimus and Familial Adenomatous Polyposis (FAP) Recruiting NCT03095703 Phase 2 Sirolimus
23 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
24 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
25 Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis. Not yet recruiting NCT03061591 Phase 2
26 Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous Polyposis Terminated NCT00033371 Phase 2 Celecoxib;eflornithine
27 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis Patients Withdrawn NCT00248053 Phase 2 curcumin
28 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
29 Lyophilized Black Raspberries in Adults With Familial Adenomatous Polyposis (FAP) Completed NCT00770991 Phase 1 Black raspberry (BRB) Slurry;Black Raspberry (BRB) Suppositories;Black Raspberry (BRB) Placebo Slurry
30 Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
31 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1 Acetylsalicylic acid
32 A Pilot Open-Label Crossover Bioavailability Study of Celecoxib in Healthy Volunteers Completed NCT00813241 Phase 1 celecoxib reference formulation;celecoxib test formulation A1;celecoxib test formulation B2;celecoxib test formulation C1
33 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP) Unknown status NCT02656134
34 Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard Endoscopy Unknown status NCT00253812
35 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Triple therapy for H. pylori infection;Cox-2 inhibitor
36 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Calcumin (Curcumin)
37 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
38 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
39 Dual Focus NBI and pCLE in FAP Related Duodenal Adenoma Completed NCT02162173
40 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
41 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
42 Evaluation of Oesogastroduodenoscopy With Vision to 245 ° (Full Spectrum Endoscopy) to View the Main Disc and Accessory Completed NCT02859883
43 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953
44 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
45 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
46 Single Incision Laparoscopic Surgery in Treating Patients With Colorectal Disease Completed NCT01656746
47 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
48 Endoscopic Evaluation of Duodenal Polyposis in Patients With Familial Adenomatous Polyposis (FAP) Recruiting NCT03346980
49 Registry With Information About Colitis Ulcerosa and Familial Adenomatous Polyposis Patients Recruiting NCT01604564
50 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Recruiting NCT02198092

Search NIH Clinical Center for Familial Adenomatous Polyposis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 Multiple Polyposis Syndrome 28

Anatomical Context for Familial Adenomatous Polyposis

MalaCards organs/tissues related to Familial Adenomatous Polyposis:

38
Colon, Small Intestine, Thyroid, Skin, Bone, Testes, Pancreas

Publications for Familial Adenomatous Polyposis

Articles related to Familial Adenomatous Polyposis:

(show top 50) (show all 901)
# Title Authors Year
1
Patients with familial adenomatous polyposis harbor colonic biofilms containing tumorigenic bacteria. ( 29420293 )
2018
2
Tailored surgical treatment of duodenal polyposis in familial adenomatous polyposis syndrome. ( 29331402 )
2018
3
A novel tissue-based A9-catenin gene and immunohistochemical analysis to exclude familial adenomatous polyposis among children with hepatoblastoma tumors. ( 29446530 )
2018
4
Safety of cold snare polypectomy for duodenal adenomas in familial adenomatous polyposis: a prospective exploratory study. ( 29351704 )
2018
5
Ileal pouch of ulcerative colitis and familial adenomatous polyposis patients exhibit modulation of autophagy markers. ( 29422639 )
2018
6
Molecular Predicators of Duodenal Familial Adenomatous Polyposis Chemoprevention: Do Chemopreventive Drugs Hit Their Presumed Molecular Targets? ( 29263155 )
2018
7
Congenital Hypertrophy of Retinal Pigment Epithelium for Diagnosis of Familial Adenomatous Polyposis - the First FAP registry in Iran ( 29373909 )
2018
8
Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial. ( 29423501 )
2018
9
Comparison of Dysplastic Fundic Gland Polyps in Patients with and without Familial Adenomatous Polyposis. ( 29436014 )
2018
10
Characteristics of Adrenal Masses in Familial Adenomatous Polyposis. ( 29377868 )
2018
11
A differential diagnosis of a head and neck bony lesion: Review of a case series with 18 patients with extraintestinal features of familial adenomatous polyposis. ( 29327502 )
2018
12
Cancer in an unexpected site post pouch surgery for familial adenomatous polyposis (FAP). ( 29324375 )
2018
13
Hepatobiliary and Pancreatic: Hepatic nodules in a patient with familial adenomatous polyposis and colorectal adenocarcinoma. ( 29284077 )
2018
14
APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis. ( 29368261 )
2018
15
Initial experience with taTME in patients undergoing laparoscopic restorative proctocolectomy for familial adenomatous polyposis. ( 29168141 )
2017
16
Dental anomalies in pediatric patients with familial adenomatous polyposis. ( 28887722 )
2017
17
NOD2 genetic variants predispose one of two familial adenomatous polyposis siblings to pouchitis through microbiome dysbiosis. ( 28633443 )
2017
18
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. ( 28891849 )
2017
19
Multiple pilomatrixomas in a survivor of WNT-activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis. ( 28792655 )
2017
20
Desmoid Tumors in Familial Adenomatous Polyposis. ( 28668823 )
2017
21
Advanced duodenal neoplasia and carcinoma in familial adenomatous polyposis: outcomes of surgical management. ( 29184692 )
2017
22
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype. ( 28791770 )
2017
23
An Unusual Case of Familial Adenomatous Polyposis Presenting with Gout and Jaundice. ( 28944114 )
2017
24
Outcomes and complications of radiation therapy in patients with familial adenomatous polyposis. ( 28890814 )
2017
25
Prognostic impact of hospital volume on familial adenomatous polyposis: a nationwide multicenter study. ( 28831607 )
2017
26
Familial Adenomatous Polyposis Registry in Czech Republic - History, Present and Future. ( 28591553 )
2017
27
Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms? ( 27844202 )
2017
28
Gastric and duodenal polyps in familial adenomatous polyposis patients: Conventional endoscopy vs virtual chromoendoscopy (fujinon intelligent color enhancement) in dysplasia evaluation. ( 28439498 )
2017
29
Altered microRNA profiles during early colon adenoma progression in a porcine model of familial adenomatous polyposis. ( 29221194 )
2017
30
Complete Reversion of Familial Adenomatous Polyposis Phenotype Associated with Tacrolimus and Mycophenolate Mofetil Treatment Following Kidney Transplantation. ( 28551651 )
2017
31
Feasibility of endoscopic resection using bipolar snare for nonampullary duodenal tumours in familial adenomatous polyposis patients. ( 29189961 )
2017
32
Coexistence of Peripheral Spondyloarthritis and Familial Adenomatous Polyposis: A Rare Case Report with Treatment Contradictions and Review of the Literature. ( 29217947 )
2017
33
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. ( 28533537 )
2017
34
ALK-positive gastric inflammatory myofibroblastic tumor in an adult with familial adenomatous polyposis and diffuse fundic polyposis. ( 28923119 )
2017
35
A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis. ( 28423518 )
2017
36
A mucinous cystadenoma in rectal cuff of a patient with familial adenomatous polyposis. ( 28247059 )
2017
37
Endoscopic Ultrasound Imaging Detection of Gastric Cancer in Familial Adenomatous Polyposis. ( 28601481 )
2017
38
Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP). ( 28075483 )
2017
39
Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression. ( 28747659 )
2017
40
Estrogen Receptor I^ as a Prognostic Marker of Tumor Progression in Colorectal Cancer with Familial Adenomatous Polyposis and Sporadic Polyps. ( 28681123 )
2017
41
WNT Inhibitory Activity of Malus Pumila miller cv Annurca and Malus domestica cv Limoncella Apple Extracts on Human Colon-Rectal Cells Carrying Familial Adenomatous Polyposis Mutations. ( 29156563 )
2017
42
Longitudinal analysis of colon crypt stem cell dynamics in sulindac treated Familial Adenomatous Polyposis patients. ( 28931879 )
2017
43
Children's International Polyposis (CHIP) study: a randomized, double-blind, placebo-controlled study of celecoxib in children with familial adenomatous polyposis. ( 28765715 )
2017
44
Current status of prophylactic surgical treatment for familial adenomatous polyposis in Japan. ( 27770209 )
2016
45
Epithelial turnover in duodenal familial adenomatous polyposis: A possible role for estrogen receptors? ( 27003997 )
2016
46
Childbirth after surgery for familial adenomatous polyposis in Japan. ( 27357052 )
2016
47
Pancreas-sparing total duodenectomy for Spigelman stage IV duodenal polyposis associated with familial adenomatous polyposis: experience of 10 cases at a single institution. ( 27655252 )
2016
48
Sulindac and Erlotinib for Familial Adenomatous Polyposis--Reply. ( 27483082 )
2016
49
Macroscopically visible flat dysplasia in the fundus of 3 patients with familial adenomatous polyposis. ( 27060715 )
2016
50
Sulindac and Erlotinib for Familial Adenomatous Polyposis. ( 27483077 )
2016

Variations for Familial Adenomatous Polyposis

ClinVar genetic disease variations for Familial Adenomatous Polyposis:

6 (show top 50) (show all 190)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
2 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
3 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
4 APC NM_000038.5(APC): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic rs397515734 GRCh37 Chromosome 5, 112128191: 112128191
5 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh37 Chromosome 5, 112102077: 112102077
6 APC NM_000038.5(APC): c.3183_3187delACAAA (p.Gln1062Terfs) deletion Pathogenic rs587779352 GRCh37 Chromosome 5, 112174474: 112174478
7 APC NM_000038.5(APC): c.3202_3205delTCAA (p.Ser1068Glyfs) deletion Pathogenic rs587779353 GRCh37 Chromosome 5, 112174493: 112174496
8 APC NM_000038.5(APC): c.3982C> T (p.Gln1328Ter) single nucleotide variant Pathogenic rs398123121 GRCh37 Chromosome 5, 112175273: 112175273
9 APC NM_000038.5(APC): c.1213C> T (p.Arg405Ter) single nucleotide variant Pathogenic rs587779780 GRCh38 Chromosome 5, 112819245: 112819245
10 APC NM_000038.5(APC): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs587779783 GRCh38 Chromosome 5, 112838007: 112838007
11 APC NM_000038.5(APC): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs62619935 GRCh38 Chromosome 5, 112792446: 112792446
12 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188
13 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh37 Chromosome 1, 45797507: 45797507
14 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
15 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
16 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic rs587778536 GRCh37 Chromosome 1, 45797372: 45797372
17 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Pathogenic rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
18 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 GRCh38 Chromosome 1, 45333472: 45333472
19 MUTYH NM_001128425.1(MUTYH): c.1186+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781337 GRCh38 Chromosome 1, 45331660: 45331660
20 MUTYH NM_001128425.1(MUTYH): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs587781338 GRCh38 Chromosome 1, 45332080: 45332080
21 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh38 Chromosome 1, 45332445: 45332445
22 APC NM_000038.5(APC): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs587781392 GRCh38 Chromosome 5, 112780895: 112780895
23 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh37 Chromosome 1, 45797230: 45797230
24 APC NM_000038.5(APC): c.147_150delACAA (p.Lys49Asnfs) deletion Pathogenic rs587781694 GRCh37 Chromosome 5, 112102034: 112102037
25 APC NM_000038.5(APC): c.220+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs587781809 GRCh37 Chromosome 5, 112102109: 112102109
26 APC NM_000038.5(APC): c.426_427delAT (p.Leu143Alafs) deletion Pathogenic rs587782557 GRCh37 Chromosome 5, 112111329: 112111330
27 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 GRCh37 Chromosome 1, 45797201: 45797201
28 MUTYH NM_001128425.1(MUTYH): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782885 GRCh37 Chromosome 1, 45798112: 45798112
29 APC NM_000038.5(APC): c.1744-2A> G single nucleotide variant Pathogenic rs587783035 GRCh38 Chromosome 5, 112834949: 112834949
30 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 GRCh38 Chromosome 1, 45331676: 45331676
31 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh38 Chromosome 1, 45332794: 45332794
32 APC NM_000038.5(APC): c.288T> A (p.Tyr96Ter) single nucleotide variant Pathogenic rs376213437 GRCh38 Chromosome 5, 112767256: 112767256
33 MUTYH NM_001128425.1(MUTYH): c.884C> T (p.Pro295Leu) single nucleotide variant Pathogenic/Likely pathogenic rs374950566 GRCh37 Chromosome 1, 45797887: 45797887
34 MUTYH NM_001128425.1(MUTYH): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs786203115 GRCh37 Chromosome 1, 45797972: 45797972
35 MUTYH NM_001128425.1(MUTYH): c.721C> T (p.Arg241Trp) single nucleotide variant Pathogenic/Likely pathogenic rs34126013 GRCh37 Chromosome 1, 45798130: 45798130
36 MUTYH NM_001128425.1(MUTYH): c.544C> T (p.Arg182Cys) single nucleotide variant Pathogenic/Likely pathogenic rs747993448 GRCh38 Chromosome 1, 45332795: 45332795
37 MUTYH NM_001128425.1(MUTYH): c.389-1G> A single nucleotide variant Pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
38 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh37 Chromosome 1, 45799108: 45799108
39 MUTYH NM_001128425.1(MUTYH): c.309G> A (p.Trp103Ter) single nucleotide variant Pathogenic/Likely pathogenic rs748170941 GRCh37 Chromosome 1, 45799124: 45799124
40 APC NM_000038.5(APC): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145945630 GRCh37 Chromosome 5, 112090657: 112090657
41 APC NM_000038.5(APC): c.847C> T (p.Arg283Ter) single nucleotide variant Pathogenic rs786201856 GRCh37 Chromosome 5, 112151204: 112151204
42 APC NM_000038.5(APC): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs775126020 GRCh37 Chromosome 5, 112154723: 112154723
43 APC NM_000038.5(APC): c.2805C> G (p.Tyr935Ter) single nucleotide variant Pathogenic rs137854575 GRCh37 Chromosome 5, 112174096: 112174096
44 APC NM_000038.5(APC): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs137854568 GRCh37 Chromosome 5, 112151261: 112151261
45 APC NM_000038.5(APC): c.839C> G (p.Ser280Ter) single nucleotide variant Pathogenic rs137854569 GRCh37 Chromosome 5, 112151196: 112151196
46 APC NM_000038.5(APC): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic rs137854572 GRCh37 Chromosome 5, 112163698: 112163698
47 APC NM_000038.5(APC): c.2805C> A (p.Tyr935Ter) single nucleotide variant Pathogenic rs137854575 GRCh37 Chromosome 5, 112174096: 112174096
48 APC NM_000038.5(APC): c.4393_4394delAG (p.Ser1465Trpfs) deletion Pathogenic rs387906234 GRCh37 Chromosome 5, 112175684: 112175685
49 APC NM_000038.5(APC): c.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906235 GRCh37 Chromosome 5, 112175682: 112175685
50 APC NM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs) deletion Pathogenic rs121913224 GRCh37 Chromosome 5, 112175218: 112175222

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:

36
# 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 90)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
2
Show member pathways
13.07 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
3
Show member pathways
13 KRAS MLH1 MSH2 MSH6 PTGS2 TP53
4
Show member pathways
12.83 APC CDH1 CTNNB1 GSK3B KRAS PTGS2
5
Show member pathways
12.77 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
6
Show member pathways
12.75 CCND1 MSH2 MSH6 MYC TP53
7 12.75 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
8
Show member pathways
12.69 CCND1 CTNNB1 GSK3B KRAS MYC PTGS2
9
Show member pathways
12.68 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
10
Show member pathways
12.68 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
11
Show member pathways
12.67 CTNNB1 KRAS MSH2 MYC TP53
12 12.65 APC APC2 CCND1 KRAS MYC PTGS2
13
Show member pathways
12.64 APC AXIN1 CCND1 CTNNB1 HNF4A SMAD4
14 12.64 CCND1 MAPRE1 MLH1 MSH2 MSH6 MUTYH
15
Show member pathways
12.59 APC AXIN1 GSK3B KRAS TP53
16
Show member pathways
12.59 CDH1 CTNNB1 KRAS MYC TP53
17
Show member pathways
12.59 APC AXIN1 CTNNB1 GSK3B HNF4A SMAD4
18
Show member pathways
12.57 CCND1 GSK3B KRAS MYC TP53
19 12.55 APC APC2 CCND1 CTNNB1 GSK3B KRAS
20 12.53 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
21
Show member pathways
12.5 APC APC2 AXIN1 CTNNB1 GSK3B KRAS
22
Show member pathways
12.49 CTNNB1 GSK3B KRAS PTGS1 PTGS2
23 12.49 APC CCND1 CDH1 GSK3B MYC SMAD4
24
Show member pathways
12.45 CCND1 GSK3B MYC TP53
25 12.4 CCND1 CTNNB1 KRAS MYC TP53
26
Show member pathways
12.39 CCND1 CTNNB1 GSK3B MYC
27 12.35 APC AXIN1 CTNNB1 GSK3B SMAD4
28
Show member pathways
12.34 APC CDH1 CTNNB1 GSK3B
29
Show member pathways
12.31 CCND1 GSK3B KRAS MYC TP53
30
Show member pathways
12.3 CCND1 GSK3B MYC SMAD4
31
Show member pathways
12.28 APC AXIN1 CTNNB1 GSK3B
32
Show member pathways
12.27 CCND1 KRAS MYC SMAD4 TP53
33 12.25 CCND1 KRAS MYC TP53
34 12.24 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
35 12.23 APC AXIN1 CDH1 CTNNB1 GSK3B
36 12.22 APC APC2 AXIN1 CTNNB1 GSK3B KRAS
37 12.21 CCND1 CDH1 CTNNB1 KRAS MSH2 MSH6
38 12.19 AXIN1 CCND1 MYC SMAD4 TP53
39 12.18 CCND1 KRAS MLH1 MSH2 TP53
40 12.17 CCND1 CDH1 KRAS SMAD4
41 12.17 APC AXIN1 CDH1 CTNNB1 GSK3B KRAS
42 12.15 APC MLH1 MSH2 TP53
43 12.14 AXIN1 CTNNB1 SMAD4 TP53
44 12.12 CCND1 CTNNB1 GSK3B KRAS MYC TP53
45 12.1 CCND1 MYC PTGS2 TP53
46 12.1 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
47 12.07 CCND1 MYC PTGS2 TP53
48 12.05 AXIN1 CDH1 CTNNB1 GSK3B MYC
49 12.04 APC AXIN1 CTNNB1 GSK3B
50 11.99 HNF4A KRAS MYC SMAD4

GO Terms for Familial Adenomatous Polyposis

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.93 APC CTNNB1 GSK3B MAPRE1 SMAD4
2 nuclear chromatin GO:0000790 9.8 MSH6 MYC SMAD4 TP53
3 lamellipodium GO:0030027 9.78 APC CDH1 CTNNB1 MCC
4 cell-cell adherens junction GO:0005913 9.73 APC CDH1 CTNNB1
5 lateral plasma membrane GO:0016328 9.62 APC AXIN1 CDH1 CTNNB1
6 cell projection membrane GO:0031253 9.55 CTNNB1 MAPRE1
7 flotillin complex GO:0016600 9.52 CDH1 CTNNB1
8 mismatch repair complex GO:0032300 9.46 MLH1 MSH2
9 MutSalpha complex GO:0032301 9.43 MSH2 MSH6
10 Wnt signalosome GO:1990909 9.33 APC CTNNB1 GSK3B
11 beta-catenin destruction complex GO:0030877 9.26 APC AXIN1 CTNNB1 GSK3B
12 catenin complex GO:0016342 8.92 APC APC2 CDH1 CTNNB1
13 cytosol GO:0005829 10.32 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
14 nucleus GO:0005634 10.31 APC AXIN1 CCND1 CTNNB1 GSK3B HNF4A
15 cytoplasm GO:0005737 10.27 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
16 nucleoplasm GO:0005654 10.07 APC CCND1 CTNNB1 GSK3B HNF4A MCC

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.99 CTNNB1 PTGS1 PTGS2 SMAD4
2 protein deubiquitination GO:0016579 9.99 APC AXIN1 MYC SMAD4 TP53
3 in utero embryonic development GO:0001701 9.98 CTNNB1 MSH2 MYC SMAD4
4 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.95 APC AXIN1 CTNNB1 GSK3B TP53
5 response to drug GO:0042493 9.93 CCND1 CDH1 CTNNB1 MYC PTGS2 TP53
6 cell cycle arrest GO:0007050 9.91 APC MSH2 MYC TP53
7 negative regulation of canonical Wnt signaling pathway GO:0090090 9.89 APC APC2 AXIN1 GSK3B MCC
8 response to estradiol GO:0032355 9.88 CCND1 CTNNB1 MYC PTGS2
9 negative regulation of cell death GO:0060548 9.86 CTNNB1 MYC SMAD4
10 response to glucocorticoid GO:0051384 9.85 CCND1 KRAS PTGS2
11 positive regulation of protein catabolic process GO:0045732 9.85 APC AXIN1 GSK3B
12 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.82 MLH1 MSH2 MSH6
13 cellular response to UV GO:0034644 9.81 MYC PTGS2 TP53
14 branching involved in ureteric bud morphogenesis GO:0001658 9.79 CTNNB1 MYC SMAD4
15 positive regulation of cell cycle GO:0045787 9.78 CCND1 MYC TP53
16 response to organonitrogen compound GO:0010243 9.77 CCND1 PTGS2 TP53
17 cellular response to DNA damage stimulus GO:0006974 9.76 APC CCND1 MLH1 MSH2 MSH6 MUTYH
18 response to X-ray GO:0010165 9.73 CCND1 MSH2 TP53
19 negative regulation of Wnt signaling pathway GO:0030178 9.73 APC APC2 AXIN1 CCND1
20 mismatch repair GO:0006298 9.71 MLH1 MSH2 MSH6 MUTYH
21 ovulation GO:0030728 9.7 MYC PTGS2
22 entry of bacterium into host cell GO:0035635 9.7 CDH1 CTNNB1
23 response to UV-B GO:0010224 9.7 MSH2 TP53
24 regulation of microtubule-based process GO:0032886 9.7 APC GSK3B
25 somatic hypermutation of immunoglobulin genes GO:0016446 9.7 MLH1 MSH2 MSH6
26 ER overload response GO:0006983 9.69 GSK3B TP53
27 cyclooxygenase pathway GO:0019371 9.69 PTGS1 PTGS2
28 isotype switching GO:0045190 9.69 MLH1 MSH2 MSH6
29 mitotic G1 DNA damage checkpoint GO:0031571 9.68 CCND1 TP53
30 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 MLH1 MSH2
31 positive regulation of helicase activity GO:0051096 9.66 MSH2 MSH6
32 negative regulation of DNA recombination GO:0045910 9.65 MSH2 MSH6
33 re-entry into mitotic cell cycle GO:0000320 9.65 CCND1 MYC
34 positive regulation of protein localization to centrosome GO:1904781 9.65 APC GSK3B
35 determination of adult lifespan GO:0008340 9.65 MSH2 MSH6 TP53
36 maintenance of DNA repeat elements GO:0043570 9.63 MSH2 MSH6
37 positive regulation of isotype switching to IgA isotypes GO:0048298 9.63 MLH1 MSH2
38 cellular response to indole-3-methanol GO:0071681 9.62 CDH1 CTNNB1
39 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.58 MLH1 MSH2
40 beta-catenin destruction complex disassembly GO:1904886 9.56 APC AXIN1 CTNNB1 GSK3B
41 somatic recombination of immunoglobulin gene segments GO:0016447 9.54 MLH1 MSH2 MSH6
42 beta-catenin destruction complex assembly GO:1904885 9.5 APC AXIN1 GSK3B
43 Wnt signaling pathway GO:0016055 9.5 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
44 canonical Wnt signaling pathway GO:0060070 9.1 APC AXIN1 CCND1 CTNNB1 GSK3B MYC
45 positive regulation of transcription, DNA-templated GO:0045893 10.08 AXIN1 CDH1 CTNNB1 HNF4A MYC SMAD4
46 positive regulation of gene expression GO:0010628 10.06 CTNNB1 GSK3B KRAS MYC TP53
47 cell proliferation GO:0008283 10.06 CTNNB1 MAPRE1 MYC SMAD4 TP53
48 negative regulation of cell proliferation GO:0008285 10.04 APC CTNNB1 HNF4A PTGS2 SMAD4 TP53

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.96 CTNNB1 MLH1 MSH6 SMAD4 TP53
2 enzyme binding GO:0019899 9.93 AXIN1 CCND1 CTNNB1 MSH2 PTGS2 TP53
3 transcription regulatory region DNA binding GO:0044212 9.9 CTNNB1 HNF4A SMAD4 TP53
4 protein C-terminus binding GO:0008022 9.87 CTNNB1 MAPRE1 MSH2 TP53
5 double-stranded DNA binding GO:0003690 9.81 CTNNB1 MSH2 MSH6 MYC
6 damaged DNA binding GO:0003684 9.75 MSH2 MSH6 TP53
7 RNA polymerase II transcription factor binding GO:0001085 9.62 CTNNB1 GSK3B SMAD4 TP53
8 microtubule plus-end binding GO:0051010 9.61 APC MAPRE1
9 gamma-catenin binding GO:0045295 9.58 APC CDH1
10 I-SMAD binding GO:0070411 9.58 AXIN1 CTNNB1 SMAD4
11 oxidized purine DNA binding GO:0032357 9.55 MSH2 MSH6
12 beta-catenin binding GO:0008013 9.55 APC APC2 AXIN1 CDH1 GSK3B
13 MutSalpha complex binding GO:0032407 9.54 MLH1 MUTYH
14 mismatched DNA binding GO:0030983 9.54 MLH1 MSH2 MSH6
15 single guanine insertion binding GO:0032142 9.52 MSH2 MSH6
16 single thymine insertion binding GO:0032143 9.49 MSH2 MSH6
17 prostaglandin-endoperoxide synthase activity GO:0004666 9.48 PTGS1 PTGS2
18 MutLalpha complex binding GO:0032405 9.43 MSH2 MSH6 MUTYH
19 protein kinase binding GO:0019901 9.23 APC AXIN1 CCND1 CTNNB1 GSK3B MAPRE1
20 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
21 protein binding GO:0005515 10.41 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
22 protein homodimerization activity GO:0042803 10.07 AXIN1 HNF4A MSH2 MSH6 PTGS2 SMAD4

Sources for Familial Adenomatous Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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