MCID: FML011
MIFTS: 69

Familial Adenomatous Polyposis

Categories: Rare diseases, Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Familial Adenomatous Polyposis

MalaCards integrated aliases for Familial Adenomatous Polyposis:

Name: Familial Adenomatous Polyposis 12 72 50 24 25 52 14
Adenomatous Polyposis Coli 50 24 25 42 69
Fap 50 24 25
Familial Multiple Polyposis Syndrome 25 29
Adenomatous Polyposis of the Colon 12 50
Familial Intestinal Polyposis 50 69
Familial Adenomatous Polyposis of the Colon 50
Adenomatous Familial Polyposis Syndrome 25
Polyposis, Adenomatous Intestinal 50
Familial Polyposis of the Colon 50
Adenomatous Familial Polyposis 25
Familial Multiple Polyposis 50
Hereditary Polyposis Coli 50
Mutyh-Associate Polyposis 69
Myh-Associated Polyposis 25
Familial Polyposis Coli 24
Fpc 50

Classifications:



Summaries for Familial Adenomatous Polyposis

NIH Rare Diseases : 50 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 mismatch repair cancer syndrome and gastric cancer, somatic, and has symptoms including colon cancer, multiple gastric polyps and delayed eruption of teeth. An important gene associated with Familial Adenomatous Polyposis is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are ERK Signaling and TCR Signaling (Qiagen). 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 cellular

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 : 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.

Wikipedia : 72 Familial adenomatous polyposis (FAP) is an inherited condition in which numerous adenomatous polyps form... more...

Related Diseases for Familial Adenomatous Polyposis

Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis 4 Familial Adenomatous Polyposis 3

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

(show top 50) (show all 218)
id Related Disease Score Top Affiliating Genes
1 mismatch repair cancer syndrome 31.7 APC CTNNB1 MLH1 MSH2 MSH6
2 gastric cancer, somatic 30.4 APC CCND1 CDH1 CTNNB1 KRAS MLH1
3 muir-torre syndrome 30.1 MLH1 MSH2 MSH6 MUTYH
4 desmoid disease, hereditary 29.9 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
5 hepatocellular carcinoma 28.8 APC AXIN1 CCND1 CDH1 CTNNB1 HNF4A
6 colorectal cancer 25.1 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
7 attenuated familial adenomatous polyposis 12.5
8 familial adenomatous polyposis 3 12.4
9 familial adenomatous polyposis 4 12.4
10 familial adenomatous polyposis due to 5q22.2 microdeletion 12.1
11 adenomatous polyposis coli 12.1
12 axin2-related attenuated familial adenomatous polyposis 12.0
13 msh3-related attenuated familial adenomatous polyposis 12.0
14 mutyh-associated polyposis 11.8
15 adenomas, multiple colorectal 11.7
16 desmoid tumor 11.4
17 hepatoblastoma 11.4
18 medulloblastoma 11.3
19 5q22 deletion syndrome 11.0
20 duodenum cancer 11.0
21 stomach cancer 11.0
22 familial stomach cancer 11.0
23 thyroid cancer, nonmedullary, 2 11.0
24 thyroid cancer, nonmedullary, 1 11.0
25 anencephaly 10.9 APC CTNNB1
26 rectum kaposi's sarcoma 10.8 CTNNB1 PTGS2 TP53
27 oral antidiabetic drugs toxicity or dose selection 10.7 CCND1 PTGS2 TP53
28 hemoglobinemia 10.7 CCND1 CTNNB1 MYC
29 pancreatic signet ring cell adenocarcinoma 10.7 CDH1 CTNNB1 TP53
30 villous adenocarcinoma 10.7 MYC PTGS2 TP53
31 glomerulosclerosis, focal segmental, 7 10.7 APC MUTYH SMAD4
32 adenoma 10.7
33 rectum squamous cell carcinoma 10.7 APC MLH1 TP53
34 rare endometriosis 10.7 CDH1 CTNNB1 TP53
35 glycogen storage disease due to lactate dehydrogenase deficiency 10.7 AXIN1 CTNNB1 TP53
36 ductal carcinoma in situ 10.7 CCND1 CDH1 TP53
37 thyroid gland disease 10.7 CTNNB1 MLH1 MSH2
38 skin hemangioma 10.7 CTNNB1 MYC TP53
39 vulvar keratoacanthoma-like carcinoma 10.7 MSH2 MYC TP53
40 tendon sheath lipoma 10.7 PTGS2 TP53
41 renal pelvis urothelial papilloma 10.6 CDH1 TP53
42 spinal cord dermoid cyst 10.6 AXIN1 CTNNB1 TP53
43 enamel hypoplasia cataract hydrocephaly 10.6 AXIN1 CTNNB1 TP53
44 duodenitis 10.6
45 integumentary system cancer 10.6 CCND1 CDH1 TP53
46 unilateral retinoblastoma 10.6 CCND1 MYC TP53
47 tracheal disease 10.6 CDH1 CTNNB1 TP53
48 breast myoepithelial neoplasm 10.6 CTNNB1 KRAS TP53
49 hereditary persistence of fetal hemoglobin, klf1-related 10.6 APC MLH1 MUTYH PTGS2
50 colon signet ring adenocarcinoma 10.6 APC CTNNB1 SMAD4 TP53

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)
id Description HPO Frequency HPO Source Accession
1 colon cancer 32 frequent (33%) HP:0003003
2 multiple gastric polyps 32 hallmark (90%) HP:0004394
3 delayed eruption of teeth 32 occasional (7.5%) HP:0000684
4 odontoma 32 occasional (7.5%) HP:0011068
5 irregular hyperpigmentation 32 occasional (7.5%) HP:0007400
6 multiple lipomas 32 occasional (7.5%) HP:0001012
7 duodenal polyposis 32 hallmark (90%) HP:0004783
8 adenomatous colonic polyposis 32 hallmark (90%) HP:0005227
9 fibroma 32 occasional (7.5%) HP:0010614
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
id 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 CTNNB1 SMAD4
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 CTNNB1 SMAD4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.19 APC CTNNB1 MLH1 SMAD4
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 APC AXIN1 GSK3B MCC MSH2 SMAD4

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.54 KRAS MLH1 MSH2 MSH6 MUTYH MYC
2 homeostasis/metabolism MP:0005376 10.46 APC CCND1 CDH1 CTNNB1 GSK3B HNF4A
3 digestive/alimentary MP:0005381 10.44 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
4 growth/size/body region MP:0005378 10.42 CCND1 CDH1 CTNNB1 GSK3B HNF4A KRAS
5 mortality/aging MP:0010768 10.42 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
6 behavior/neurological MP:0005386 10.4 KRAS MYC PTGS1 PTGS2 SMAD4 TP53
7 cardiovascular system MP:0005385 10.4 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
8 endocrine/exocrine gland MP:0005379 10.36 GSK3B KRAS MLH1 MYC PTGS1 PTGS2
9 integument MP:0010771 10.35 APC CCND1 CDH1 CTNNB1 KRAS MLH1
10 immune system MP:0005387 10.33 MYC PTGS1 PTGS2 SMAD4 TP53 APC
11 nervous system MP:0003631 10.31 MYC APC APC2 AXIN1 CCND1 CTNNB1
12 neoplasm MP:0002006 10.3 MSH2 MSH6 MUTYH MYC PTGS1 PTGS2
13 embryo MP:0005380 10.29 PTGS2 SMAD4 TP53 APC AXIN1 CDH1
14 craniofacial MP:0005382 10.26 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
15 normal MP:0002873 10.18 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
16 liver/biliary system MP:0005370 10.16 APC CTNNB1 GSK3B HNF4A KRAS MYC
17 muscle MP:0005369 10.08 APC CTNNB1 KRAS MYC PTGS1 PTGS2
18 limbs/digits/tail MP:0005371 10.07 APC AXIN1 CTNNB1 KRAS MYC SMAD4
19 hearing/vestibular/ear MP:0005377 10.04 APC AXIN1 CTNNB1 KRAS MYC TP53
20 no phenotypic analysis MP:0003012 10.01 APC CDH1 CTNNB1 GSK3B KRAS MYC
21 reproductive system MP:0005389 9.97 SMAD4 TP53 APC APC2 AXIN1 CCND1
22 renal/urinary system MP:0005367 9.91 APC AXIN1 CTNNB1 GSK3B KRAS PTGS1
23 pigmentation MP:0001186 9.72 CTNNB1 KRAS MYC TP53 APC
24 respiratory system MP:0005388 9.56 AXIN1 CCND1 CTNNB1 KRAS MLH1 PTGS1
25 skeleton MP:0005390 9.36 PTGS1 PTGS2 SMAD4 TP53 APC AXIN1

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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
2
Celecoxib Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 169590-42-5 2662
3 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 Phase 3,Phase 2 38194-50-2 5352 1548887
19
Loperamide Approved Phase 3 53179-11-6 3955
20
Ornithine Approved, Nutraceutical Phase 3,Phase 2 70-26-8, 3184-13-2 6262 389
21 Cholagogues and Choleretics Phase 2, Phase 3
22 Antidiarrheals Phase 3
23 Antiparasitic Agents Phase 3,Phase 2
24 Antiprotozoal Agents Phase 3,Phase 2
25 Protective Agents Phase 2, 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 14219 4091
29
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
30
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
31
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
32
Inulin Approved, Nutraceutical Phase 2 9005-80-5 24763
33
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
34
Curcumin Investigational Phase 2 458-37-7 969516
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 69)

id Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4 Erythromycin
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Not yet recruiting NCT02354560 Phase 4 Erythromycin
3 Observational Familial Adenomatous Polyposis Registry Study In Patients Receiving Celecoxib Compared to Control Patients Terminated NCT00151476 Phase 4 Celecoxib
4 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
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 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Recruiting NCT02263365 Phase 3 Loperamide
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 A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3 Eflornithine plus Sulindac;Eflornithine plus Placebo;Sulindac plus Placebo
15 Exisulind in Preventing Polyps in Patients With Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
16 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2 metformin
17 Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis Unknown status NCT00319007 Phase 2 Sulindac (drug);VSL#3 (probiotic);Inulin (probiotic)
18 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2 Curcumin
19 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
20 Sirolimus and Familial Adenomatous Polyposis (FAP) Recruiting NCT03095703 Phase 2 Sirolimus
21 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
22 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
23 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Not yet recruiting NCT02961374 Phase 2 Erlotinib Hydrochloride
24 Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis. Not yet recruiting NCT03061591 Phase 2
25 Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous Polyposis Terminated NCT00033371 Phase 2 Celecoxib;eflornithine
26 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis Patients Withdrawn NCT00248053 Phase 2 curcumin
27 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
28 Lyophilized Black Raspberries in Adults With Familial Adenomatous Polyposis (FAP) Completed NCT00770991 Phase 1 Black raspberry (BRB) Slurry;Black Raspberry (BRB) Suppositories;Black Raspberry (BRB) Placebo Slurry
29 Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
30 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1 Acetylsalicylic acid
31 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
32 Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard Endoscopy Unknown status NCT00253812
33 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Triple therapy for H. pylori infection;Cox-2 inhibitor
34 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
35 Dual Focus NBI and pCLE in FAP Related Duodenal Adenoma Completed NCT02162173
36 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
37 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
38 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
39 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
40 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953
41 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
42 Single Incision Laparoscopic Surgery in Treating Patients With Colorectal Disease Completed NCT01656746
43 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
44 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP) Recruiting NCT02656134
45 Registry With Information About Colitis Ulcerosa and Familial Adenomatous Polyposis Patients Recruiting NCT01604564
46 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Recruiting NCT02198092
47 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Recruiting NCT02374931
48 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518
49 Prevalence of Small Bowel Polyps in Patients With Sporadic Duodenal Adenomas Recruiting NCT02470416
50 Familial Cancer Registry and DNA Bank Recruiting NCT02083224

Search NIH Clinical Center for Familial Adenomatous Polyposis

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


Cochrane evidence based reviews: adenomatous polyposis coli

Genetic Tests for Familial Adenomatous Polyposis

Genetic tests related to Familial Adenomatous Polyposis:

id Genetic test Affiliating Genes
1 Familial Multiple Polyposis Syndrome 29
2 Familial Adenomatous Polyposis 24 APC

Anatomical Context for Familial Adenomatous Polyposis

MalaCards organs/tissues related to Familial Adenomatous Polyposis:

39
Colon, Small Intestine, Thyroid, Bone, Skin, Testes, Pancreas

Publications for Familial Adenomatous Polyposis

Articles related to Familial Adenomatous Polyposis:

(show top 50) (show all 881)
id Title Authors Year
1
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. ( 28533537 )
2017
2
Dental anomalies in pediatric patients with familial adenomatous polyposis. ( 28887722 )
2017
3
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
4
ALK-positive gastric inflammatory myofibroblastic tumor in an adult with familial adenomatous polyposis and diffuse fundic polyposis. ( 28923119 )
2017
5
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype. ( 28791770 )
2017
6
Outcomes and complications of radiation therapy in patients with familial adenomatous polyposis. ( 28890814 )
2017
7
A mucinous cystadenoma in rectal cuff of a patient with familial adenomatous polyposis. ( 28247059 )
2017
8
Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression. ( 28747659 )
2017
9
Prognostic impact of hospital volume on familial adenomatous polyposis: a nationwide multicenter study. ( 28831607 )
2017
10
Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP). ( 28075483 )
2017
11
Gastric and duodenal polyps in familial adenomatous polyposis patients: Conventional endoscopy vs virtual chromoendoscopy (fujinon intelligent color enhancement) in dysplasia evaluation. ( 28439498 )
2017
12
An Unusual Case of Familial Adenomatous Polyposis Presenting with Gout and Jaundice. ( 28944114 )
2017
13
Desmoid Tumors in Familial Adenomatous Polyposis. ( 28668823 )
2017
14
NOD2 genetic variants predispose one of two familial adenomatous polyposis siblings to pouchitis through microbiome dysbiosis. ( 28633443 )
2017
15
Familial Adenomatous Polyposis Registry in Czech Republic - History, Present and Future. ( 28591553 )
2017
16
Endoscopic Ultrasound Imaging Detection of Gastric Cancer in Familial Adenomatous Polyposis. ( 28601481 )
2017
17
Children's International Polyposis (CHIP) study: a randomized, double-blind, placebo-controlled study of celecoxib in children with familial adenomatous polyposis. ( 28765715 )
2017
18
Complete Reversion of Familial Adenomatous Polyposis Phenotype Associated with Tacrolimus and Mycophenolate Mofetil Treatment Following Kidney Transplantation. ( 28551651 )
2017
19
Estrogen Receptor I^ as a Prognostic Marker of Tumor Progression in Colorectal Cancer with Familial Adenomatous Polyposis and Sporadic Polyps. ( 28681123 )
2017
20
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. ( 28891849 )
2017
21
Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms? ( 27844202 )
2017
22
Longitudinal analysis of colon crypt stem cell dynamics in sulindac treated Familial Adenomatous Polyposis patients. ( 28931879 )
2017
23
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
24
Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. ( 27217144 )
2016
25
Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study. ( 27777639 )
2016
26
Comparison of Non-Ampullary Duodenal Adenomas in Patients with Familial Adenomatous Polyposis (FAP) versus Patients with Sporadic Adenomas. ( 27530072 )
2016
27
Familial Adenomatous Polyposis Manifesting as Lactococcus Endocarditis: A Case Report and Review of the Association of Lactococcus with Underlying Gastrointestinal Disease. ( 27818810 )
2016
28
Age- and Gender-Specific Risk of Thyroid Cancer in Patients with Familial Adenomatous Polyposis. ( 27623068 )
2016
29
Oral perfluorooctane sulfonate (PFOS) lessens tumor development in the APC(min) mouse model of spontaneous familial adenomatous polyposis. ( 27927180 )
2016
30
Morphology and genetics of pyloric gland adenomas in familial adenomatous polyposis. ( 27767239 )
2016
31
Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis. ( 27015438 )
2016
32
Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis. ( 26663236 )
2016
33
Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial. ( 27002448 )
2016
34
Epithelial turnover in duodenal familial adenomatous polyposis: A possible role for estrogen receptors? ( 27003997 )
2016
35
Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate. ( 27056662 )
2016
36
A role for the vitamin D pathway in non-intestinal lesions in genetic and carcinogen models of colorectal cancer and in familial adenomatous polyposis. ( 27768599 )
2016
37
Cold snare polypectomy effectively reduces polyp burden in familial adenomatous polyposis. ( 27092331 )
2016
38
Assessing barriers to a rational chemoprevention trial design in young patients with familial adenomatous polyposis. ( 27128580 )
2016
39
Sulindac plus erlotinib for familial adenomatous polyposis. ( 27051970 )
2016
40
Emergency total proctocolectomy in an uninsured patient with Familial Adenomatous Polyposis Syndrome and acute lower gastrointestinal hemorrhage in a community hospital: A case report. ( 27497040 )
2016
41
Familial Adenomatous Polyposis. ( 27617147 )
2016
42
Desmoid Tumours in Familial Adenomatous Polyposis: Review of 17 Patients from a Portuguese Tertiary Center. ( 27891388 )
2016
43
Familial adenomatous polyposis small bowel surveillance: could indicators for video-capsule endoscopy be ascertained? ( 27404265 )
2016
44
Efficacy and safety of eflornithine (CPP-1X)/sulindac combination therapy versus each as monotherapy in patients with familial adenomatous polyposis (FAP): design and rationale of a randomized, double-blind, Phase III trial. ( 27480131 )
2016
45
Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan. ( 27870147 )
2016
46
Colorectal cancer prevention of familial adenomatous polyposis. ( 27383102 )
2016
47
Two subtypes of colorectal tumor with distinct molecular features in familial adenomatous polyposis. ( 27563825 )
2016
48
Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis. ( 27000756 )
2016
49
Familial Adenomatous Polyposis; Succesful Use of Sirolimus. ( 27356835 )
2016
50
Sulindac and Erlotinib for Familial Adenomatous Polyposis--Reply. ( 27483082 )
2016

Variations for Familial Adenomatous Polyposis

ClinVar genetic disease variations for Familial Adenomatous Polyposis:

6 (show top 50) (show all 182)
id Gene Variation Type Significance SNP ID Assembly Location
1 APC NM_000038.5(APC): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs137854568 GRCh37 Chromosome 5, 112151261: 112151261
2 APC NM_000038.5(APC): c.839C> G (p.Ser280Ter) single nucleotide variant Pathogenic rs137854569 GRCh37 Chromosome 5, 112151196: 112151196
3 APC NM_000038.5(APC): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic rs137854572 GRCh37 Chromosome 5, 112163698: 112163698
4 APC NM_000038.5(APC): c.2805C> A (p.Tyr935Ter) single nucleotide variant Pathogenic rs137854575 GRCh37 Chromosome 5, 112174096: 112174096
5 APC NM_000038.5(APC): c.4393_4394delAG (p.Ser1465Trpfs) deletion Pathogenic rs387906234 GRCh37 Chromosome 5, 112175684: 112175685
6 APC NM_000038.5(APC): c.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906235 GRCh37 Chromosome 5, 112175682: 112175685
7 APC NM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs) deletion Pathogenic rs121913224 GRCh37 Chromosome 5, 112175218: 112175222
8 APC NM_000038.5(APC): c.3920T> A (p.Ile1307Lys) single nucleotide variant risk factor rs1801155 GRCh37 Chromosome 5, 112175211: 112175211
9 APC NM_000038.5(APC): c.1495C> T (p.Arg499Ter) single nucleotide variant Pathogenic rs137854580 GRCh37 Chromosome 5, 112162891: 112162891
10 APC NM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs) deletion Pathogenic rs387906239 GRCh37 Chromosome 5, 112154666: 112154667
11 APC NM_000038.5(APC): c.423-1G> A single nucleotide variant Pathogenic rs397514031 GRCh37 Chromosome 5, 112111325: 112111325
12 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
13 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
14 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh37 Chromosome 1, 45796869: 45796869
15 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
16 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh37 Chromosome 1, 45796892: 45796892
17 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
18 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
19 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
20 APC NM_000038.5(APC): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic rs397515734 GRCh37 Chromosome 5, 112128191: 112128191
21 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh37 Chromosome 5, 112102077: 112102077
22 APC NM_000038.5(APC): c.3183_3187delACAAA (p.Gln1062Terfs) deletion Pathogenic rs587779352 GRCh37 Chromosome 5, 112174474: 112174478
23 APC NM_000038.5(APC): c.3202_3205delTCAA (p.Ser1068Glyfs) deletion Pathogenic rs587779353 GRCh37 Chromosome 5, 112174493: 112174496
24 APC NM_000038.5(APC): c.3982C> T (p.Gln1328Ter) single nucleotide variant Pathogenic rs398123121 GRCh37 Chromosome 5, 112175273: 112175273
25 APC NM_000038.5(APC): c.1213C> T (p.Arg405Ter) single nucleotide variant Pathogenic rs587779780 GRCh38 Chromosome 5, 112819245: 112819245
26 APC NM_000038.5(APC): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs587779783 GRCh38 Chromosome 5, 112838007: 112838007
27 APC NM_000038.5(APC): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs62619935 GRCh38 Chromosome 5, 112792446: 112792446
28 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188
29 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 GRCh37 Chromosome 1, 45797507: 45797507
30 MUTYH NM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del) deletion Pathogenic rs587778541 GRCh37 Chromosome 1, 45796891: 45796893
31 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 GRCh37 Chromosome 1, 45800165: 45800165
32 MUTYH NM_001128425.1(MUTYH): c.1147delC (p.Ala385Profs) deletion Pathogenic rs587778536 GRCh37 Chromosome 1, 45797372: 45797372
33 MUTYH NM_001128425.1(MUTYH): c.933+3A> C single nucleotide variant Pathogenic rs587780751 GRCh37 Chromosome 1, 45797835: 45797835
34 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 GRCh38 Chromosome 1, 45333472: 45333472
35 MUTYH NM_001128425.1(MUTYH): c.1186+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781337 GRCh38 Chromosome 1, 45331660: 45331660
36 MUTYH NM_001128425.1(MUTYH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic/Likely pathogenic rs140342925 GRCh38 Chromosome 1, 45332445: 45332445
37 APC NM_000038.5(APC): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs587781392 GRCh38 Chromosome 5, 112780895: 112780895
38 MUTYH NM_001128425.1(MUTYH): c.1187-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781628 GRCh37 Chromosome 1, 45797230: 45797230
39 APC NM_000038.5(APC): c.147_150delACAA (p.Lys49Asnfs) deletion Pathogenic rs587781694 GRCh37 Chromosome 5, 112102034: 112102037
40 APC NM_000038.5(APC): c.220+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs587781809 GRCh37 Chromosome 5, 112102109: 112102109
41 APC NM_000038.5(APC): c.426_427delAT (p.Leu143Alafs) deletion Pathogenic rs587782557 GRCh37 Chromosome 5, 112111329: 112111330
42 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 GRCh38 Chromosome 1, 45331529: 45331529
43 MUTYH NM_001128425.1(MUTYH): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782885 GRCh37 Chromosome 1, 45798112: 45798112
44 APC NM_000038.5(APC): c.1744-2A> G single nucleotide variant Pathogenic rs587783035 GRCh38 Chromosome 5, 112834949: 112834949
45 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 GRCh38 Chromosome 1, 45331676: 45331676
46 MUTYH NM_001128425.1(MUTYH): c.857G> A (p.Gly286Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730881833 GRCh38 Chromosome 1, 45332242: 45332242
47 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh38 Chromosome 1, 45332794: 45332794
48 APC NM_000038.5(APC): c.288T> A (p.Tyr96Ter) single nucleotide variant Pathogenic rs376213437 GRCh38 Chromosome 5, 112767256: 112767256
49 MUTYH NM_001128425.1(MUTYH): c.884C> T (p.Pro295Leu) single nucleotide variant Pathogenic/Likely pathogenic rs374950566 GRCh37 Chromosome 1, 45797887: 45797887
50 MUTYH NM_001128425.1(MUTYH): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs786203115 GRCh37 Chromosome 1, 45797972: 45797972

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 GeneCards Suite gene sharing:

(show top 50) (show all 85)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
2
Show member pathways
13 KRAS MLH1 MSH2 MSH6 PTGS2 TP53
3
Show member pathways
12.9 APC CDH1 CTNNB1 GSK3B KRAS PTGS2
4 12.77 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
5
Show member pathways
12.75 CCND1 MSH2 MSH6 MYC TP53
6
Show member pathways
12.67 CTNNB1 KRAS MSH2 MYC TP53
7
Show member pathways
12.67 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
8 12.64 APC APC2 CCND1 KRAS MYC PTGS2
9
Show member pathways
12.63 APC AXIN1 CCND1 CTNNB1 HNF4A SMAD4
10 12.62 CCND1 MAPRE1 MLH1 MSH2 MSH6 MUTYH
11
Show member pathways
12.6 CDH1 CTNNB1 KRAS MYC TP53
12
Show member pathways
12.59 APC AXIN1 GSK3B KRAS TP53
13
Show member pathways
12.58 APC AXIN1 CTNNB1 GSK3B HNF4A SMAD4
14 12.54 APC APC2 CCND1 CTNNB1 GSK3B KRAS
15 12.5 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
16
Show member pathways
12.49 CTNNB1 GSK3B KRAS PTGS1 PTGS2
17
Show member pathways
12.47 APC APC2 AXIN1 CTNNB1 GSK3B KRAS
18 12.47 APC CCND1 CDH1 GSK3B MYC SMAD4
19
Show member pathways
12.46 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
20
Show member pathways
12.45 CCND1 GSK3B MYC TP53
21 12.43 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
22
Show member pathways
12.4 CCND1 GSK3B KRAS MYC TP53
23 12.39 CCND1 CTNNB1 KRAS MYC TP53
24
Show member pathways
12.38 CCND1 CTNNB1 GSK3B MYC
25
Show member pathways
12.34 APC CDH1 CTNNB1 GSK3B
26
Show member pathways
12.34 CCND1 GSK3B KRAS MYC TP53
27 12.33 APC AXIN1 CTNNB1 GSK3B SMAD4
28
Show member pathways
12.3 CCND1 GSK3B MYC SMAD4
29
Show member pathways
12.28 APC AXIN1 CTNNB1 GSK3B
30 12.22 APC AXIN1 CDH1 CTNNB1 GSK3B
31 12.21 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
32 12.2 APC APC2 AXIN1 CTNNB1 GSK3B KRAS
33 12.18 AXIN1 CCND1 MYC SMAD4 TP53
34 12.18 CCND1 KRAS MLH1 MSH2 TP53
35 12.17 CCND1 CDH1 KRAS SMAD4
36 12.16 APC AXIN1 CDH1 CTNNB1 GSK3B KRAS
37 12.16 CCND1 CDH1 CTNNB1 KRAS MSH2 MSH6
38 12.15 APC MLH1 MSH2 TP53
39 12.13 AXIN1 CTNNB1 SMAD4 TP53
40 12.1 CCND1 CTNNB1 GSK3B KRAS MYC TP53
41 12.09 CCND1 MYC PTGS2 TP53
42 12.08 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
43 12.07 CCND1 MYC PTGS2 TP53
44 12.04 APC AXIN1 CTNNB1 GSK3B
45 12.04 AXIN1 CDH1 CTNNB1 GSK3B MYC
46 12 HNF4A KRAS MYC SMAD4
47 11.96 CCND1 CTNNB1 GSK3B SMAD4
48 11.94 CCND1 MSH6 MYC TP53
49 11.93 APC CCND1 CDH1 CTNNB1 MYC
50 11.92 CCND1 MYC PTGS2 TP53

GO Terms for Familial Adenomatous Polyposis

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.91 APC CTNNB1 GSK3B MAPRE1 SMAD4
2 lamellipodium GO:0030027 9.76 APC CDH1 CTNNB1 MCC
3 cell-cell adherens junction GO:0005913 9.71 APC CDH1 CTNNB1
4 nuclear chromatin GO:0000790 9.65 MSH6 SMAD4 TP53
5 lateral plasma membrane GO:0016328 9.56 APC AXIN1 CDH1 CTNNB1
6 cell projection membrane GO:0031253 9.52 CTNNB1 MAPRE1
7 flotillin complex GO:0016600 9.49 CDH1 CTNNB1
8 MutSalpha complex GO:0032301 9.4 MSH2 MSH6
9 Wnt signalosome GO:1990909 9.33 APC CTNNB1 GSK3B
10 beta-catenin destruction complex GO:0030877 9.26 APC AXIN1 CTNNB1 GSK3B
11 catenin complex GO:0016342 8.92 APC APC2 CDH1 CTNNB1
12 cytoplasm GO:0005737 10.31 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
13 nucleus GO:0005634 10.27 APC AXIN1 CCND1 CTNNB1 GSK3B HNF4A
14 nucleoplasm GO:0005654 10.1 APC CCND1 CTNNB1 HNF4A MCC MLH1

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

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.99 CCND1 CDH1 CTNNB1 MYC PTGS2
2 protein deubiquitination GO:0016579 9.97 APC AXIN1 MYC SMAD4 TP53
3 regulation of cell proliferation GO:0042127 9.96 CTNNB1 PTGS1 PTGS2 SMAD4
4 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.93 APC AXIN1 CTNNB1 GSK3B TP53
5 cell cycle arrest GO:0007050 9.88 APC MSH2 MYC TP53
6 negative regulation of canonical Wnt signaling pathway GO:0090090 9.88 APC APC2 AXIN1 GSK3B MCC
7 response to glucocorticoid GO:0051384 9.82 CCND1 KRAS PTGS2
8 positive regulation of protein catabolic process GO:0045732 9.82 APC AXIN1 GSK3B
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.8 MLH1 MSH2 MSH6
10 cellular response to UV GO:0034644 9.8 MYC PTGS2 TP53
11 branching involved in ureteric bud morphogenesis GO:0001658 9.77 CTNNB1 MYC SMAD4
12 cellular response to DNA damage stimulus GO:0006974 9.76 APC CCND1 MLH1 MSH2 MSH6 MUTYH
13 negative regulation of Wnt signaling pathway GO:0030178 9.73 APC APC2 AXIN1 CCND1
14 response to X-ray GO:0010165 9.72 CCND1 MSH2 TP53
15 mismatch repair GO:0006298 9.71 MLH1 MSH2 MSH6 MUTYH
16 somatic hypermutation of immunoglobulin genes GO:0016446 9.69 MLH1 MSH2 MSH6
17 entry of bacterium into host cell GO:0035635 9.67 CDH1 CTNNB1
18 regulation of microtubule-based process GO:0032886 9.67 APC GSK3B
19 ER overload response GO:0006983 9.67 GSK3B TP53
20 isotype switching GO:0045190 9.67 MLH1 MSH2 MSH6
21 cyclooxygenase pathway GO:0019371 9.66 PTGS1 PTGS2
22 positive regulation of isotype switching to IgG isotypes GO:0048304 9.65 MLH1 MSH2
23 mitotic G1 DNA damage checkpoint GO:0031571 9.65 CCND1 TP53
24 negative regulation of DNA recombination GO:0045910 9.64 MSH2 MSH6
25 positive regulation of helicase activity GO:0051096 9.63 MSH2 MSH6
26 determination of adult lifespan GO:0008340 9.63 MSH2 MSH6 TP53
27 maintenance of DNA repeat elements GO:0043570 9.62 MSH2 MSH6
28 positive regulation of isotype switching to IgA isotypes GO:0048298 9.61 MLH1 MSH2
29 cellular response to indole-3-methanol GO:0071681 9.61 CDH1 CTNNB1
30 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.57 MLH1 MSH2
31 beta-catenin destruction complex disassembly GO:1904886 9.56 APC AXIN1 CTNNB1 GSK3B
32 somatic recombination of immunoglobulin gene segments GO:0016447 9.54 MLH1 MSH2 MSH6
33 beta-catenin destruction complex assembly GO:1904885 9.5 APC AXIN1 GSK3B
34 Wnt signaling pathway GO:0016055 9.5 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
35 canonical Wnt signaling pathway GO:0060070 9.1 APC AXIN1 CCND1 CTNNB1 GSK3B MYC
36 positive regulation of transcription, DNA-templated GO:0045893 10.07 AXIN1 CDH1 CTNNB1 HNF4A MYC SMAD4
37 negative regulation of cell proliferation GO:0008285 10.03 APC CTNNB1 HNF4A PTGS2 SMAD4 TP53

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.95 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 9.88 CTNNB1 HNF4A SMAD4 TP53
4 protein kinase binding GO:0019901 9.8 APC AXIN1 CCND1 CTNNB1 GSK3B MSH2
5 damaged DNA binding GO:0003684 9.73 MSH2 MSH6 TP53
6 RNA polymerase II transcription factor binding GO:0001085 9.62 CTNNB1 GSK3B SMAD4 TP53
7 microtubule plus-end binding GO:0051010 9.59 APC MAPRE1
8 I-SMAD binding GO:0070411 9.58 AXIN1 CTNNB1 SMAD4
9 gamma-catenin binding GO:0045295 9.57 APC CDH1
10 oxidized purine DNA binding GO:0032357 9.54 MSH2 MSH6
11 mismatched DNA binding GO:0030983 9.54 MLH1 MSH2 MSH6
12 MutSalpha complex binding GO:0032407 9.52 MLH1 MUTYH
13 single guanine insertion binding GO:0032142 9.51 MSH2 MSH6
14 single thymine insertion binding GO:0032143 9.49 MSH2 MSH6
15 prostaglandin-endoperoxide synthase activity GO:0004666 9.48 PTGS1 PTGS2
16 beta-catenin binding GO:0008013 9.35 APC APC2 AXIN1 CDH1 GSK3B
17 MutLalpha complex binding GO:0032405 9.33 MSH2 MSH6 MUTYH
18 guanine/thymine mispair binding GO:0032137 8.8 MLH1 MSH2 MSH6
19 protein binding GO:0005515 10.41 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
20 protein homodimerization activity GO:0042803 10.05 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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