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FAP
MCID: FML011
MIFTS: 72

Familial Adenomatous Polyposis (FAP)

Categories: Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Familial Adenomatous Polyposis

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MalaCards integrated aliases for Familial Adenomatous Polyposis:

Name: Familial Adenomatous Polyposis 12 76 53 25 37 29 55 6 15
Adenomatous Polyposis Coli 53 25 44 73
Familial Multiple Polyposis Syndrome 25 29 6
Adenomatous Polyposis of the Colon 12 53
Familial Intestinal Polyposis 53 73
Fap 53 25
Familial Adenomatous Polyposis of the Colon 53
Adenomatous Familial Polyposis Syndrome 25
Polyposis, Adenomatous Intestinal 53
Familial Polyposis of the Colon 53
Adenomatous Polyposis, Familial 40
Adenomatous Familial Polyposis 25
Familial Multiple Polyposis 53
Hereditary Polyposis Coli 53
Mutyh-Associate Polyposis 73
Myh-Associated Polyposis 25
Fpc 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Cancer diseases
Anatomical: Eye diseases Gastrointestinal diseases Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)


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Summaries for Familial Adenomatous Polyposis

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

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

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

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Related Diseases for Familial Adenomatous Polyposis

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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 291)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 1 34.6 APC CTNNB1
2 attenuated familial adenomatous polyposis 34.3 APC MSH2 MSH6 MUTYH
3 mutyh-associated polyposis 33.4 APC KRAS MUTYH TP53
4 hepatoblastoma 32.8 APC CTNNB1 TP53
5 desmoid disease, hereditary 32.6 APC CTNNB1
6 mismatch repair cancer syndrome 32.5 APC CTNNB1 MLH1 MSH2 MSH6
7 medulloblastoma 32.4 APC AXIN1 CCND1 CTNNB1 MYC TP53
8 breast ductal carcinoma 32.3 CCND1 CDH1 CTNNB1 TP53
9 gastric cancer 32.0 APC CCND1 CDH1 CTNNB1 KRAS MLH1
10 adenoma 30.8 APC CCND1 CTNNB1 KRAS MLH1 MSH2
11 adenocarcinoma 30.6 APC CCND1 CDH1 CTNNB1 KRAS MLH1
12 thyroid cancer 30.6 APC CCND1 CDH1 CTNNB1 KRAS MYC
13 peutz-jeghers syndrome 30.5 APC CTNNB1 TP53
14 lynch syndrome 30.3 APC CCND1 CTNNB1 KRAS MLH1 MSH2
15 ovarian cancer 1 30.3 CDH1 KRAS TP53
16 periampullary adenoma 30.3 APC KRAS NTHL1
17 duodenum cancer 30.2 KRAS MUTYH NTHL1
18 colorectal adenoma 30.2 APC CTNNB1 KRAS MLH1 MSH2 MUTYH
19 squamous cell carcinoma 30.1 CCND1 CDH1 CTNNB1 PTGS2 TP53
20 hereditary breast ovarian cancer syndrome 30.1 MLH1 MSH6 TP53
21 muir-torre syndrome 30.1 MLH1 MSH2 MSH6 MUTYH
22 bladder cancer 30.1 CCND1 CDH1 KRAS MYC TP53
23 familial colorectal cancer 30.0 APC CDH1 MLH1 MSH2 MUTYH TP53
24 gastric adenocarcinoma 30.0 APC CCND1 CDH1 CTNNB1 KRAS MLH1
25 oral cancer 30.0 CCND1 CDH1 PTGS2 TP53
26 gallbladder cancer 30.0 CDH1 KRAS MLH1 PTGS2 TP53
27 esophageal cancer 29.8 CCND1 CDH1 CTNNB1 KRAS MYC PTGS2
28 lung cancer susceptibility 3 29.8 APC CCND1 CDH1 CTNNB1 KRAS PTGS2
29 prostate cancer 29.7 CCND1 CDH1 CTNNB1 GSK3B KRAS MYC
30 pancreas adenocarcinoma 29.5 CCND1 CDH1 CTNNB1 KRAS MYC PTGS2
31 colorectal adenocarcinoma 29.5 CDH1 CTNNB1 KRAS MLH1 MSH2 MSH6
32 hepatocellular carcinoma 29.4 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
33 colorectal cancer 29.4 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
34 ovarian cancer 29.3 CCND1 CDH1 CTNNB1 KRAS MLH1 MSH2
35 endometrial cancer 29.3 CCND1 CDH1 CTNNB1 KRAS MLH1 MSH2
36 colonic disease 29.2 CCND1 CDH1 CTNNB1 KRAS MLH1 MSH2
37 breast cancer 29.0 APC CCND1 CDH1 CTNNB1 GSK3B KRAS
38 familial adenomatous polyposis 3 12.7
39 familial adenomatous polyposis 4 12.7
40 familial adenomatous polyposis 2 12.6
41 familial adenomatous polyposis due to 5q22.2 microdeletion 12.4
42 axin2-related attenuated familial adenomatous polyposis 12.3
43 amyloidosis, hereditary, transthyretin-related 12.0
44 desmoid tumor 11.8
45 thyroid cancer, nonmedullary, 1 11.6
46 glioma 11.3
47 thyroid cancer, nonmedullary, 2 11.3
48 thyroid cancer, nonmedullary, 3 11.3
49 familial stomach cancer 11.3
50 hemophagocytic lymphohistiocytosis, familial, 5 11.2

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



Diseases related to Familial Adenomatous Polyposis
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Symptoms & Phenotypes for Familial Adenomatous Polyposis

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Human phenotypes related to Familial Adenomatous Polyposis:

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

UMLS symptoms related to Familial Adenomatous Polyposis:


abdominal pain, diarrhea

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

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

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.55 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
2 homeostasis/metabolism MP:0005376 10.44 APC CCND1 CDH1 CTNNB1 GSK3B HNF4A
3 digestive/alimentary MP:0005381 10.4 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
4 mortality/aging MP:0010768 10.38 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
5 behavior/neurological MP:0005386 10.35 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
6 growth/size/body region MP:0005378 10.34 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
7 cardiovascular system MP:0005385 10.3 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
8 immune system MP:0005387 10.3 APC CCND1 CDH1 CTNNB1 GSK3B KRAS
9 neoplasm MP:0002006 10.3 APC CCND1 CDH1 CTNNB1 KRAS MLH1
10 integument MP:0010771 10.29 APC CCND1 CDH1 CTNNB1 KRAS MLH1
11 endocrine/exocrine gland MP:0005379 10.27 APC CCND1 CDH1 CTNNB1 GSK3B KRAS
12 nervous system MP:0003631 10.25 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
13 embryo MP:0005380 10.23 APC AXIN1 CDH1 CTNNB1 HNF4A KRAS
14 craniofacial MP:0005382 10.19 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
15 normal MP:0002873 10.15 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
16 liver/biliary system MP:0005370 10.1 APC CTNNB1 GSK3B HNF4A KRAS MYC
17 hearing/vestibular/ear MP:0005377 10.02 APC AXIN1 CTNNB1 KRAS MYC TP53
18 no phenotypic analysis MP:0003012 10.01 APC CDH1 CTNNB1 GSK3B KRAS MYC
19 reproductive system MP:0005389 9.9 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
20 renal/urinary system MP:0005367 9.8 APC AXIN1 CTNNB1 GSK3B KRAS PTGS2
21 pigmentation MP:0001186 9.72 APC CTNNB1 KRAS MYC TP53
22 respiratory system MP:0005388 9.5 AXIN1 CCND1 CTNNB1 KRAS MLH1 PTGS2
23 skeleton MP:0005390 9.28 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
Sources

Drugs & Therapeutics for Familial Adenomatous Polyposis

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

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2 Erythromycin Ethylsuccinate Phase 4
3 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
4 Erythromycin stearate Phase 4
5 Erythromycin Estolate Phase 4
6 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
7 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Cyclooxygenase 2 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3,Phase 3 128-13-2 31401
17
Sulindac Approved, Investigational Phase 3,Phase 2 38194-50-2 5352 1548887
18
Celecoxib Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 169590-42-5 2662
19
Loperamide Approved Phase 3 53179-11-6 3955
20
Ornithine Approved, Nutraceutical Phase 3,Phase 2 3184-13-2, 70-26-8 6262
21 Cholagogues and Choleretics Phase 2, Phase 3,Phase 3
22 Cola Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
23 Omega 3 Fatty Acid Phase 2, Phase 3
24 Antiparasitic Agents Phase 3,Phase 2
25 Antiprotozoal Agents Phase 3,Phase 2
26 Protective Agents Phase 2, Phase 3
27 Antidiarrheals Phase 3
28
Metformin Approved Phase 2 657-24-9 14219 4091
29
Curcumin Approved, Experimental, Investigational Phase 2,Not Applicable 458-37-7 969516
30
Turmeric Approved, Experimental, Investigational Phase 2
31
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
32
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
33
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
34
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
36 Hypoglycemic Agents Phase 2
37 Turmeric extract Phase 2
38 Retinol palmitate Phase 2
39
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
40 retinol Phase 2
41 Protein Kinase Inhibitors Phase 2
42 Immunosuppressive Agents Phase 2,Phase 1
43 Antibiotics, Antitubercular Phase 2,Phase 1
44 Immunologic Factors Phase 2,Phase 1
45 Antifungal Agents Phase 2,Phase 1
46 Antioxidants Phase 2
47
Bevacizumab Approved, Investigational Phase 1 216974-75-3
48 Raspberry Approved Phase 1
49
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
50 Endothelial Growth Factors Phase 1

Interventional clinical trials:

(show top 50) (show all 79)
# 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 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3 Ursodeoxycholic acid;Placebo
5 Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA Completed NCT00510692 Phase 2, Phase 3 Eicosapentanoic Acid (EPA);Placebo
6 Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis Completed NCT00808743 Phase 2, Phase 3 Celecoxib;Ursodeoxycholic acid;Placebo
7 Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps Completed NCT00005094 Phase 3 celecoxib
8 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
9 Effect of EPA-FFA on Polypectomy in Familial Adenomatous Polyposis Recruiting NCT03806426 Phase 3 Eicosapentaenoic acid free fatty acid (EPA-FFA);Placebo
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 A Study of Guselkumab in Participants With Familial Adenomatous Polyposis Recruiting NCT03649971 Phase 1 Guselkumab;Placebo
34 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP) Unknown status NCT02656134
35 Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard Endoscopy Unknown status NCT00253812 Not Applicable
36 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
37 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Not Applicable Triple therapy for H. pylori infection;Cox-2 inhibitor
38 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Not Applicable Calcumin (Curcumin)
39 Endoscopic Papillectomy for Ampullary Adenomas Completed NCT03494543
40 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250 Not Applicable
41 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
42 Dual Focus NBI and pCLE in FAP Related Duodenal Adenoma Completed NCT02162173 Not Applicable
43 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
44 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
45 Evaluation of Oesogastroduodenoscopy With Vision to 245 ° (Full Spectrum Endoscopy) to View the Main Disc and Accessory Completed NCT02859883
46 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953 Not Applicable
47 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
48 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
49 Single Incision Laparoscopic Surgery in Treating Patients With Colorectal Disease Completed NCT01656746 Not Applicable
50 Calcium/Vitamin D, Biomarkers & Colon Polyp Prevention Completed NCT00399607

Search NIH Clinical Center for Familial Adenomatous Polyposis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: adenomatous polyposis coli

Sources

Genetic Tests for Familial Adenomatous Polyposis

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Genetic tests related to Familial Adenomatous Polyposis:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 29 APC
2 Familial Multiple Polyposis Syndrome 29
Sources

Anatomical Context for Familial Adenomatous Polyposis

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MalaCards organs/tissues related to Familial Adenomatous Polyposis:

41
Colon, Thyroid, Testes, Skin, Small Intestine, Bone, Lung
Sources

Publications for Familial Adenomatous Polyposis

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Articles related to Familial Adenomatous Polyposis:

(show top 50) (show all 1533)
# Title Authors Year
1
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. ( 29702101 )
2018
2
Hepatobiliary and Pancreatic: Hepatic nodules in a patient with familial adenomatous polyposis and colorectal adenocarcinoma. ( 29284077 )
2018
3
Risk factors for advanced duodenal and ampullary adenomatosis in familial adenomatous polyposis: a prospective, single-center study. ( 29713679 )
2018
4
Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis. ( 29663106 )
2018
5
A novel tissue-based A9-catenin gene and immunohistochemical analysis to exclude familial adenomatous polyposis among children with hepatoblastoma tumors. ( 29446530 )
2018
6
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review. ( 29901124 )
2018
7
Safety of cold snare polypectomy for duodenal adenomas in familial adenomatous polyposis: a prospective exploratory study. ( 29351704 )
2018
8
Tailored surgical treatment of duodenal polyposis in familial adenomatous polyposis syndrome. ( 29331402 )
2018
9
Cancer in an unexpected site post pouch surgery for familial adenomatous polyposis (FAP). ( 29324375 )
2018
10
Ileal pouch of ulcerative colitis and familial adenomatous polyposis patients exhibit modulation of autophagy markers. ( 29422639 )
2018
11
Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial. ( 29423501 )
2018
12
Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis. ( 29882764 )
2018
13
Upper GI involvement in children with familial adenomatous polyposis syndrome: single-center experience and meta-analysis of the literature. ( 29122597 )
2018
14
Congenital Hypertrophy of Retinal Pigment Epithelium for Diagnosis of Familial Adenomatous Polyposis - the First FAP registry in Iran ( 29373909 )
2018
15
Ex vivo resection and intestinal autotransplantation for a large mesenteric desmoid tumor secondary to familial adenomatous polyposis: A case report and literature review. ( 29768363 )
2018
16
Argon Plasma Coagulation Treatment of Biliary Adenomas in a Patient with Familial Adenomatous Polyposis. ( 29964339 )
2018
17
Comparison of Dysplastic Fundic Gland Polyps in Patients with and without Familial Adenomatous Polyposis. ( 29436014 )
2018
18
Molecular Predicators of Duodenal Familial Adenomatous Polyposis Chemoprevention: Do Chemopreventive Drugs Hit Their Presumed Molecular Targets? ( 29263155 )
2018
19
APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis. ( 29368261 )
2018
20
Characteristics of Adrenal Masses in Familial Adenomatous Polyposis. ( 29377868 )
2018
21
Urological sequelae of desmoids associated with familial adenomatous polyposis. ( 29488047 )
2018
22
Gastric adenomas in familial adenomatous polyposis: you only see them when you know what to look for. ( 29627492 )
2018
23
Hepatoblastoma in patients with molecularly proven familial adenomatous polyposis: Clinical characteristics and rationale for surveillance screening. ( 29719120 )
2018
24
Natural history of colonic polyposis in young patients with familial adenomatous polyposis. ( 29864420 )
2018
25
Efficacy and Safety of Curcumin in Treatment of Intestinal Adenomas in Patients with Familial Adenomatous Polyposis. ( 29802852 )
2018
26
Acute Pancreatitis Caused by Ampullary Duodenum Adenoma in a Patient with Adenomatous Polyposis Coli with Billroth II Reconstruction After Distal Gastrectomy. ( 30552312 )
2018
27
Tubulo-papillary adrenocortical adenoma in a patient with familial adenomatous polyposis: A morphologic, ultrastructural and molecular study. ( 30172912 )
2018
28
The Final Diagnosis: Colorectal Carcinoma, In the Context of Attenuated Familial Adenomatous Polyposis, Mimicking Pulmonary Carcinoma. ( 30148019 )
2018
29
Adenocarcinoma at the Ileostomy Site After a Proctocolectomy for Ulcerative Colitis and/or Familial Adenomatous Polyposis: An Overview. ( 30059346 )
2018
30
Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis. ( 30523670 )
2018
31
Role of adenomatous polyposis coli (APC) gene mutations in the pathogenesis of colorectal cancer; current status and perspectives. ( 30414835 )
2018
32
Desmoid tumor of the mesentery in a patient after restorative proctocolectomy as a result of familial adenomatous polyposis - case reports. ( 30015324 )
2018
33
Giant Intra-Abdominal Desmoid Tumor in a Young Male without History of Surgery, Trauma, or Familial Adenomatous Polyposis. ( 30254784 )
2018
34
Ovarian Microcystic Stromal Tumors Are Characterized by Alterations in the Beta-Catenin-APC Pathway and May be an Extracolonic Manifestation of Familial Adenomatous Polyposis. ( 29076875 )
2018
35
Chemoprevention with Cyclooxygenase and Epidermal Growth Factor Receptor Inhibitors in Familial Adenomatous Polyposis Patients: mRNA Signatures of Duodenal Neoplasia. ( 29109117 )
2018
36
Laparoscopic Versus Open Restorative Proctocolectomy for Familial Adenomatous Polyposis. ( 29125801 )
2018
37
Routine Virtual Ileostomy Following Restorative Proctocolectomy for Familial Adenomatous Polyposis. ( 29147895 )
2018
38
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
39
Restorative proctocolectomy and ileal pouch-anal anastomosis for right-sided colonic adenocarcinoma in familial adenomatous polyposis: an abdominal laparoscopic approach combined with transanal total mesorectal excision - a video vignette. ( 29345753 )
2018
40
Patients with familial adenomatous polyposis harbor colonic biofilms containing tumorigenic bacteria. ( 29420293 )
2018
41
Aggressive mutation in a familial adenomatous polyposis syndrome family: when phenotype guides clinical surveillance. ( 29998021 )
2018
42
Bilateral breast fibromatosis after silicone prosthetics in a patient with classic familial adenomatous polyposis: A case report. ( 30008823 )
2018
43
Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients. ( 30012100 )
2018
44
Modeling APC mutagenesis and familial adenomatous polyposis using human iPS cells. ( 30024920 )
2018
45
CD36 - a plausible modifier of disease phenotype in familial adenomatous polyposis. ( 30065793 )
2018
46
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4. ( 30072583 )
2018
47
Spigelman stage IV duodenal polyposis does not precede most duodenal cancer cases in patients with familial adenomatous polyposis. ( 30081000 )
2018
48
Risk Factors Associated With Pouch Adenomas in Patients With Familial Adenomatous Polyposis. ( 30086059 )
2018
49
Worrisome endoscopic feature in the stomach of patients with familial adenomatous polyposis: the proximal white mucosal patch. ( 30115306 )
2018
50
Familial adenomatous polyposis syndrome with colorectal cancer in two Nigerians: a report of two cases and review of literature. ( 30123409 )
2018
Sources

Variations for Familial Adenomatous Polyposis

About this section

ClinVar genetic disease variations for Familial Adenomatous Polyposis:

6 (show top 50) (show all 1583)
# 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.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs137854568 GRCh38 Chromosome 5, 112815564: 112815564
3 APC NM_000038.5(APC): c.839C> G (p.Ser280Ter) single nucleotide variant Pathogenic rs137854569 GRCh37 Chromosome 5, 112151196: 112151196
4 APC NM_000038.5(APC): c.839C> G (p.Ser280Ter) single nucleotide variant Pathogenic rs137854569 GRCh38 Chromosome 5, 112815499: 112815499
5 APC NM_000038.5(APC): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic rs137854572 GRCh37 Chromosome 5, 112163698: 112163698
6 APC NM_000038.5(APC): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic rs137854572 GRCh38 Chromosome 5, 112828001: 112828001
7 APC NM_000038.5(APC): c.2805C> A (p.Tyr935Ter) single nucleotide variant Pathogenic rs137854575 GRCh37 Chromosome 5, 112174096: 112174096
8 APC NM_000038.5(APC): c.2805C> A (p.Tyr935Ter) single nucleotide variant Pathogenic rs137854575 GRCh38 Chromosome 5, 112838399: 112838399
9 APC NM_000038.5(APC): c.4393_4394delAG (p.Ser1465Trpfs) deletion Pathogenic rs387906234 GRCh37 Chromosome 5, 112175684: 112175685
10 APC NM_000038.5(APC): c.4393_4394delAG (p.Ser1465Trpfs) deletion Pathogenic rs387906234 GRCh38 Chromosome 5, 112839987: 112839988
11 APC NM_000038.5(APC): c.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906235 GRCh37 Chromosome 5, 112175682: 112175685
12 APC NM_000038.5(APC): c.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906235 GRCh38 Chromosome 5, 112839985: 112839988
13 APC NM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs) deletion Pathogenic rs121913224 GRCh37 Chromosome 5, 112175218: 112175222
14 APC NM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs) deletion Pathogenic rs121913224 GRCh38 Chromosome 5, 112839521: 112839525
15 APC NM_000038.5(APC): c.3920T> A (p.Ile1307Lys) single nucleotide variant risk factor rs1801155 GRCh37 Chromosome 5, 112175211: 112175211
16 APC NM_000038.5(APC): c.3920T> A (p.Ile1307Lys) single nucleotide variant risk factor rs1801155 GRCh38 Chromosome 5, 112839514: 112839514
17 APC NM_000038.5(APC): c.1495C> T (p.Arg499Ter) single nucleotide variant Pathogenic rs137854580 GRCh37 Chromosome 5, 112162891: 112162891
18 APC NM_000038.5(APC): c.1495C> T (p.Arg499Ter) single nucleotide variant Pathogenic rs137854580 GRCh38 Chromosome 5, 112827194: 112827194
19 APC NM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs) deletion Conflicting interpretations of pathogenicity rs387906239 GRCh37 Chromosome 5, 112154666: 112154667
20 APC NM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs) deletion Conflicting interpretations of pathogenicity rs387906239 GRCh38 Chromosome 5, 112818969: 112818970
21 APC NM_000038.5(APC): c.423-1G> A single nucleotide variant Pathogenic rs397514031 GRCh37 Chromosome 5, 112111325: 112111325
22 APC NM_000038.5(APC): c.423-1G> A single nucleotide variant Pathogenic rs397514031 GRCh38 Chromosome 5, 112775628: 112775628
23 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
24 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh38 Chromosome 1, 45332803: 45332803
25 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
26 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh38 Chromosome 1, 45331556: 45331556
27 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh37 Chromosome 1, 45796869: 45796869
28 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh38 Chromosome 1, 45331197: 45331197
29 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
30 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh38 Chromosome 1, 45333449: 45333449
31 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh37 Chromosome 1, 45796892: 45796892
32 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh38 Chromosome 1, 45331220: 45331220
33 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
34 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh37 Chromosome 1, 45794768: 45799052
35 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
36 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh38 Chromosome 1, 45331240: 45331240
37 APC NM_000038.5(APC): c.2608C> T (p.Pro870Ser) single nucleotide variant Benign/Likely benign rs33974176 GRCh37 Chromosome 5, 112173899: 112173899
38 APC NM_000038.5(APC): c.2608C> T (p.Pro870Ser) single nucleotide variant Benign/Likely benign rs33974176 GRCh38 Chromosome 5, 112838202: 112838202
39 APC NM_000038.5(APC): c.3386T> C (p.Leu1129Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143638171 GRCh37 Chromosome 5, 112174677: 112174677
40 APC NM_000038.5(APC): c.3386T> C (p.Leu1129Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143638171 GRCh38 Chromosome 5, 112838980: 112838980
41 APC NM_000038.5(APC): c.388A> G (p.Ser130Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs150973053 GRCh37 Chromosome 5, 112103053: 112103053
42 APC NM_000038.5(APC): c.388A> G (p.Ser130Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs150973053 GRCh38 Chromosome 5, 112767356: 112767356
43 APC NM_000038.5(APC): c.6724A> G (p.Ser2242Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201375478 GRCh37 Chromosome 5, 112178015: 112178015
44 APC NM_000038.5(APC): c.6724A> G (p.Ser2242Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201375478 GRCh38 Chromosome 5, 112842318: 112842318
45 APC NM_000038.5(APC): c.6821C> T (p.Ala2274Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34919187 GRCh37 Chromosome 5, 112178112: 112178112
46 APC NM_000038.5(APC): c.6821C> T (p.Ala2274Val) single nucleotide variant Conflicting interpretations of pathogenicity rs34919187 GRCh38 Chromosome 5, 112842415: 112842415
47 APC NM_000038.5(APC): c.7504G> A (p.Gly2502Ser) single nucleotide variant Benign/Likely benign rs2229995 GRCh37 Chromosome 5, 112178795: 112178795
48 APC NM_000038.5(APC): c.7504G> A (p.Gly2502Ser) single nucleotide variant Benign/Likely benign rs2229995 GRCh38 Chromosome 5, 112843098: 112843098
49 APC NM_000038.5(APC): c.2204C> T (p.Ala735Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147655929 GRCh37 Chromosome 5, 112173495: 112173495
50 APC NM_000038.5(APC): c.2204C> T (p.Ala735Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147655929 GRCh38 Chromosome 5, 112837798: 112837798

Cosmic variations for Familial Adenomatous Polyposis:

9 (show top 50) (show all 94)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 12
2 COSM43687 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 12
3 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 12
4 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 12
5 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 12
6 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 12
7 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 12
8 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 12
9 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 12
10 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 12
11 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 12
12 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 12
13 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 12
14 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 12
15 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 12
16 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 12
17 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 12
18 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 12
19 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 12
20 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 12
21 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 12
22 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 12
23 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 12
24 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 12
25 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 12
26 COSM5682 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 12
27 COSM21493 BRAF large intestine,colon,adenoma,NS c.1766C>T p.T589I 7:140753369-140753369 12
28 COSM476 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 7:140753336-140753336 12
29 COSM21492 BRAF large intestine,colon,adenoma,NS c.1357C>A p.P453T 7:140781651-140781651 12
30 COSM467 BRAF large intestine,colon,adenoma,NS c.1781A>G p.D594G 7:140753354-140753354 12
31 COSM18942 APC large intestine,colon,adenoma,NS c.3928A>T p.K1310* 5:112839522-112839522 12
32 COSM18852 APC large intestine,colon,adenoma,NS c.2626C>T p.R876* 5:112838220-112838220 12
33 COSM13127 APC large intestine,colon,adenoma,NS c.4348C>T p.R1450* 5:112839942-112839942 12
34 COSM30779 APC large intestine,colon,adenoma,NS c.4381G>T p.E1461* 5:112839975-112839975 12
35 COSM18738 APC large intestine,colon,adenoma,NS c.4495G>A p.G1499R 5:112840089-112840089 12
36 COSM18836 APC large intestine,colon,adenoma,NS c.4285C>T p.Q1429* 5:112839879-112839879 12
37 COSM18775 APC large intestine,colon,adenoma,NS c.3925G>T p.E1309* 5:112839519-112839519 12
38 COSM13130 APC large intestine,colon,adenoma,NS c.694C>T p.R232* 5:112792494-112792494 12
39 COSM19087 APC large intestine,colon,adenoma,NS c.4216C>T p.Q1406* 5:112839810-112839810 12
40 COSM19135 APC large intestine,colon,adenoma,NS c.4031C>A p.S1344* 5:112839625-112839625 12
41 COSM18822 APC large intestine,colon,adenoma,NS c.4222G>T p.E1408* 5:112839816-112839816 12
42 COSM19099 APC large intestine,colon,adenoma,NS c.3949G>C p.E1317Q 5:112839543-112839543 12
43 COSM18772 APC large intestine,colon,adenoma,NS c.3856G>T p.E1286* 5:112839450-112839450 12
44 COSM19371 APC large intestine,colon,adenoma,NS c.4621C>T p.Q1541* 5:112840215-112840215 12
45 COSM5880106 APC large intestine,colon,adenoma,NS c.4298C>T p.P1433L 5:112839892-112839892 12
46 COSM18777 APC large intestine,colon,adenoma,NS c.3944C>A p.S1315* 5:112839538-112839538 12
47 COSM18702 APC large intestine,colon,adenoma,NS c.3964G>T p.E1322* 5:112839558-112839558 12
48 COSM18834 APC large intestine,colon,adenoma,NS c.4135G>T p.E1379* 5:112839729-112839729 12
49 COSM19044 APC large intestine,colon,adenoma,NS c.4199C>A p.S1400* 5:112839793-112839793 12
50 COSM19056 APC large intestine,colon,adenoma,NS c.4606G>T p.E1536* 5:112840200-112840200 12
Sources

Expression for Familial Adenomatous Polyposis

About this section
Search GEO for disease gene expression data for Familial Adenomatous Polyposis.
Sources

Pathways for Familial Adenomatous Polyposis

About this section

Pathways related to Familial Adenomatous Polyposis according to KEGG:

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

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

(show top 50) (show all 88)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.94 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
2
DNA Double-Strand Break Repair 66
Show member pathways
 13.29 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1
3
Human cytomegalovirus infection 37
Show member pathways
 13.13 CCND1 CTNNB1 GSK3B KRAS MYC PTGS2
4
PI3K-Akt signaling pathway 37
Show member pathways
 13.09 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
5
fMLP Pathway 64
Show member pathways
 13.08 CDH1 CTNNB1 GSK3B HNF4A KRAS TP53
6
TCR Signaling (Qiagen) 64
Show member pathways
 13.04 KRAS MLH1 MSH2 MSH3 MSH6 NTHL1
7
Glioma 37
Show member pathways
 12.85 CCND1 CDH1 GSK3B KRAS MSH6 TP53
8
Development HGF signaling pathway 22
Show member pathways
 12.84 APC CDH1 CTNNB1 GSK3B KRAS PTGS2
9
Chks in Checkpoint Regulation 64
Show member pathways
 12.81 CCND1 GSK3B MSH2 MSH3 MSH6 MYC
10
Pathways in cancer 37
12.75 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
11
Gastric cancer 37
Show member pathways
 12.73 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
12
Immune response IL-23 signaling pathway 22
Show member pathways
 12.67 CTNNB1 KRAS MSH2 MYC TP53
13
Development EGFR signaling pathway 22
Show member pathways
 12.67 CCND1 CDH1 CTNNB1 GSK3B KRAS MYC
14
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.67 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
15
MicroRNAs in cancer 37
12.64 APC APC2 CCND1 KRAS MYC PTGS2
16
DNA Damage 4
12.63 CCND1 MAPRE1 MLH1 MSH2 MSH6 MUTYH
17
Mesodermal Commitment Pathway 1
Show member pathways
 12.61 APC AXIN1 CCND1 CTNNB1 HNF4A
18
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.58 APC AXIN1 GSK3B KRAS TP53
19
ErbB signaling pathway 1 37
Show member pathways
 12.56 CCND1 GSK3B KRAS MYC TP53
20
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.55 APC AXIN1 CTNNB1 GSK3B HNF4A
21
Endometrial cancer 37
Show member pathways
 12.55 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
22
Cushing syndrome 37
Show member pathways
 12.54 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
23
Human T-cell leukemia virus 1 infection 37
12.54 APC APC2 CCND1 CTNNB1 GSK3B KRAS
24
Cell cycle 1 37
12.5 APC CCND1 CDH1 GSK3B MYC TP53
25
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.48 CCND1 GSK3B HNF4A TP53
26
Apoptosis Pathway 72
Show member pathways
 12.48 CTNNB1 GSK3B KRAS TP53
27
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.45 CTNNB1 GSK3B KRAS PTGS2
28
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.45 APC CDH1 CTNNB1 GSK3B KRAS
29
Development IGF-1 receptor signaling 22
Show member pathways
 12.44 CCND1 GSK3B MYC TP53
30
Proteoglycans in cancer 37
12.39 CCND1 CTNNB1 KRAS MYC TP53
31
Development A3 receptor signaling 22
Show member pathways
 12.38 CCND1 CTNNB1 GSK3B MYC
32
WNT Signaling 64
12.35 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
33
Wnt / Hedgehog / Notch 4
12.31 APC AXIN1 CTNNB1 GSK3B
34
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 12.29 CCND1 GSK3B KRAS MYC TP53
35
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 65
Show member pathways
 12.27 APC APC2 AXIN1 CTNNB1 GSK3B TP53
36
Hippo signaling pathway 37
12.27 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
37
Cellular senescence (KEGG) 37
12.25 CCND1 KRAS MYC TP53
38
Integrated Breast Cancer Pathway 1
12.25 CCND1 CDH1 CTNNB1 KRAS MSH2 MSH6
39
AKT Signaling Pathway 67
12.24 CCND1 GSK3B KRAS MYC TP53
40
Presenilin-Mediated Signaling 64
12.23 APC AXIN1 CDH1 CTNNB1 GSK3B
41
Signaling pathways regulating pluripotency of stem cells 37
12.21 APC APC2 AXIN1 CTNNB1 GSK3B KRAS
42
TGF-beta Signaling Pathway (WikiPathways) 1
12.16 AXIN1 CCND1 MYC TP53
43
Direct p53 effectors 1
12.15 APC MLH1 MSH2 TP53
44
G12-G13 in Cellular Signaling 64
12.15 APC AXIN1 CDH1 CTNNB1 GSK3B KRAS
45
Thyroid hormone signaling pathway 37
12.12 CCND1 CTNNB1 GSK3B KRAS MYC TP53
46
Spinal Cord Injury 1
12.1 CCND1 MYC PTGS2 TP53
47
Interleukin-4 and 13 signaling 66
12.07 CCND1 MYC PTGS2 TP53
48
Neural Crest Differentiation 1
12.07 AXIN1 CDH1 CTNNB1 GSK3B MYC
49
DNA Damage Response (only ATM dependent) 1
12.07 APC AXIN1 CCND1 CTNNB1 GSK3B KRAS
50
Cell cycle Cell cycle (generic schema) 22
Show member pathways
 12.06 APC AXIN1 CCND1 CDH1 CTNNB1 GSK3B
Sources

GO Terms for Familial Adenomatous Polyposis

About this section

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 9.8 APC CDH1 CTNNB1 MCC
2 lateral plasma membrane GO:0016328 9.67 APC AXIN1 CDH1 CTNNB1
3 cytoplasmic microtubule GO:0005881 9.65 APC APC2 MAPRE1
4 catenin complex GO:0016342 9.56 APC APC2 CDH1 CTNNB1
5 cell projection membrane GO:0031253 9.52 CTNNB1 MAPRE1
6 flotillin complex GO:0016600 9.51 CDH1 CTNNB1
7 Wnt signalosome GO:1990909 9.5 APC CTNNB1 GSK3B
8 MutSalpha complex GO:0032301 9.43 MSH2 MSH6
9 MutSbeta complex GO:0032302 9.4 MSH2 MSH3
10 mismatch repair complex GO:0032300 9.26 MLH1 MSH2 MSH3 MSH6
11 beta-catenin destruction complex GO:0030877 9.02 APC APC2 AXIN1 CTNNB1 GSK3B
12 cytoplasm GO:0005737 10.38 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
13 nucleus GO:0005634 10.33 APC AXIN1 CCND1 CTNNB1 GSK3B HNF4A
14 nucleoplasm GO:0005654 10 APC CCND1 CTNNB1 GSK3B HNF4A MCC

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.91 APC MSH2 MYC TP53
2 response to estradiol GO:0032355 9.89 CCND1 CTNNB1 MYC PTGS2
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.89 APC APC2 AXIN1 GSK3B MCC
4 response to organic substance GO:0010033 9.87 CCND1 CDH1 PTGS2
5 response to glucocorticoid GO:0051384 9.85 CCND1 KRAS PTGS2
6 positive regulation of protein catabolic process GO:0045732 9.85 APC APC2 AXIN1 GSK3B
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.82 MLH1 MSH2 MSH6
8 cellular response to UV GO:0034644 9.82 MYC PTGS2 TP53
9 base-excision repair GO:0006284 9.8 MUTYH NTHL1 TP53
10 regulation of cell differentiation GO:0045595 9.79 APC APC2 CTNNB1
11 cell fate specification GO:0001708 9.75 APC APC2 CTNNB1
12 negative regulation of DNA recombination GO:0045910 9.74 MSH2 MSH3 MSH6
13 somatic hypermutation of immunoglobulin genes GO:0016446 9.73 MLH1 MSH2 MSH6
14 isotype switching GO:0045190 9.7 MLH1 MSH2 MSH6
15 Wnt signaling pathway GO:0016055 9.7 APC APC2 AXIN1 CCND1 CTNNB1 GSK3B
16 ovulation GO:0030728 9.69 MYC PTGS2
17 ER overload response GO:0006983 9.69 GSK3B TP53
18 determination of adult lifespan GO:0008340 9.69 MSH2 MSH6 TP53
19 regulation of microtubule-based process GO:0032886 9.68 APC GSK3B
20 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 MLH1 MSH2
21 mitotic recombination GO:0006312 9.68 MSH2 MSH3
22 entry of bacterium into host cell GO:0035635 9.67 CDH1 CTNNB1
23 mitotic G1 DNA damage checkpoint GO:0031571 9.67 CCND1 TP53
24 positive regulation of protein localization to centrosome GO:1904781 9.66 APC GSK3B
25 pyrimidine dimer repair GO:0006290 9.65 MSH2 MSH6
26 re-entry into mitotic cell cycle GO:0000320 9.65 CCND1 MYC
27 positive regulation of helicase activity GO:0051096 9.65 MSH2 MSH3 MSH6
28 cellular response to indole-3-methanol GO:0071681 9.64 CDH1 CTNNB1
29 positive regulation of isotype switching to IgA isotypes GO:0048298 9.63 MLH1 MSH2
30 replication fork arrest GO:0043111 9.63 MSH2 MSH3 MSH6
31 beta-catenin destruction complex assembly GO:1904885 9.61 APC AXIN1 GSK3B
32 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.58 MLH1 MSH2
33 maintenance of DNA repeat elements GO:0043570 9.58 MSH2 MSH3 MSH6
34 beta-catenin destruction complex disassembly GO:1904886 9.56 APC AXIN1 CTNNB1 GSK3B
35 meiotic mismatch repair GO:0000710 9.54 MSH2 MSH3 MSH6
36 somatic recombination of immunoglobulin gene segments GO:0016447 9.5 MLH1 MSH2 MSH6
37 mismatch repair GO:0006298 9.35 MLH1 MSH2 MSH3 MSH6 MUTYH
38 cellular response to DNA damage stimulus GO:0006974 9.32 APC CCND1 MLH1 MSH2 MSH3 MSH6
39 positive regulation of transcription, DNA-templated GO:0045893 10.1 AXIN1 CDH1 CTNNB1 HNF4A MYC TP53
40 positive regulation of cell proliferation GO:0008284 10.09 CCND1 CTNNB1 KRAS MYC PTGS2
41 negative regulation of cell proliferation GO:0008285 10.06 APC CTNNB1 HNF4A PTGS2 TP53
42 positive regulation of gene expression GO:0010628 10.06 CTNNB1 GSK3B KRAS MYC TP53
43 DNA repair GO:0006281 10.01 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1
44 response to drug GO:0042493 10 CCND1 CDH1 CTNNB1 MYC PTGS2
45 cytokine-mediated signaling pathway GO:0019221 10 CCND1 KRAS MYC PTGS2 TP53

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.92 APC AXIN1 CCND1 CTNNB1 GSK3B MAPRE1
2 double-stranded DNA binding GO:0003690 9.87 MSH2 MSH6 MYC NTHL1
3 beta-catenin binding GO:0008013 9.83 APC APC2 AXIN1 CDH1 GSK3B
4 damaged DNA binding GO:0003684 9.79 MSH2 MSH3 MSH6
5 RNA polymerase II transcription factor binding GO:0001085 9.76 CTNNB1 GSK3B TP53
6 DNA-dependent ATPase activity GO:0008094 9.75 MSH2 MSH3 MSH6
7 gamma-catenin binding GO:0045295 9.67 APC APC2 CDH1
8 MutLalpha complex binding GO:0032405 9.65 MSH2 MSH6 MUTYH
9 DNA N-glycosylase activity GO:0019104 9.63 MUTYH NTHL1
10 single thymine insertion binding GO:0032143 9.63 MSH2 MSH3 MSH6
11 I-SMAD binding GO:0070411 9.62 AXIN1 CTNNB1
12 centromeric DNA binding GO:0019237 9.61 MSH2 MSH3
13 MutSalpha complex binding GO:0032407 9.6 MLH1 MUTYH
14 Y-form DNA binding GO:0000403 9.59 MSH2 MSH3
15 dinucleotide insertion or deletion binding GO:0032139 9.56 MSH2 MSH3
16 mismatched DNA binding GO:0030983 9.56 MLH1 MSH2 MSH3 MSH6
17 double-strand/single-strand DNA junction binding GO:0000406 9.55 MSH2 MSH3
18 heteroduplex DNA loop binding GO:0000404 9.54 MSH2 MSH3
19 single guanine insertion binding GO:0032142 9.54 MSH2 MSH3 MSH6
20 dinucleotide repeat insertion binding GO:0032181 9.51 MSH2 MSH3
21 oxidized purine DNA binding GO:0032357 9.46 MSH2 MSH3 MSH6 MUTYH
22 enzyme binding GO:0019899 9.28 AXIN1 CCND1 CTNNB1 MLH1 MSH2 MSH3
23 guanine/thymine mispair binding GO:0032137 9.26 MLH1 MSH2 MSH3 MSH6
24 protein binding GO:0005515 10.4 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
25 protein homodimerization activity GO:0042803 10.07 AXIN1 CDH1 HNF4A MSH2 MSH3 MSH6
26 chromatin binding GO:0003682 10.01 CTNNB1 MLH1 MSH2 MSH6 TP53
Sources

Sources for Familial Adenomatous Polyposis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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