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MCID: FML011
MIFTS: 71

Familial Adenomatous Polyposis

Categories: Rare diseases, Genetic diseases, Gastrointestinal diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Bone 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
Anatomical: Gastrointestinal diseases Neuronal diseases Eye diseases Skin diseases Bone 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 Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, bone and small intestine, and related phenotypes are delayed eruption of teeth and multiple lipomas

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.

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.

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 219)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 1 35.2 APC CTNNB1
2 attenuated familial adenomatous polyposis 34.1 APC MSH2 MSH6 MUTYH
3 desmoid disease, hereditary 33.2 APC CTNNB1
4 hepatoblastoma 33.0 APC CTNNB1 TP53
5 mutyh-associated polyposis 32.6 APC KRAS MUTYH TP53
6 mismatch repair cancer syndrome 31.7 APC CTNNB1 MLH1 MSH2 MSH6
7 medulloblastoma 31.2 APC AXIN1 CCND1 CTNNB1 MYC TP53
8 colitis 31.1 CTNNB1 MLH1 MSH2 PTGS2
9 peutz-jeghers syndrome 30.8 APC CTNNB1 TP53
10 ureteral obstruction 30.5 CTNNB1 PTGS2 TP53
11 hereditary breast ovarian cancer syndrome 30.3 MLH1 MSH2 TP53
12 periampullary adenoma 30.1 APC KRAS NTHL1
13 duodenum cancer 29.8 KRAS MUTYH NTHL1
14 colonic benign neoplasm 29.7 CTNNB1 KRAS PTGS2
15 muir-torre syndrome 29.7 MLH1 MSH2 MSH6 MUTYH
16 gastric cancer 29.2 APC CCND1 CDH1 CTNNB1 KRAS MLH1
17 familial colorectal cancer 29.2 APC CDH1 MLH1 MSH2 MUTYH TP53
18 adenoma 28.4 APC CCND1 CTNNB1 KRAS MLH1 MSH2
19 adenocarcinoma 28.2 APC CCND1 CDH1 CTNNB1 KRAS MLH1
20 thyroid cancer 28.2 APC CCND1 CDH1 CTNNB1 KRAS MYC
21 colorectal adenoma 28.2 APC CTNNB1 KRAS MLH1 MSH2 MUTYH
22 lung cancer susceptibility 3 27.8 APC CCND1 CDH1 CTNNB1 KRAS PTGS2
23 gastric adenocarcinoma 26.9 APC CCND1 CDH1 CTNNB1 KRAS MLH1
24 lynch syndrome 26.8 APC CCND1 CTNNB1 KRAS MLH1 MSH2
25 hepatocellular carcinoma 26.7 APC AXIN1 CCND1 CDH1 CTNNB1 KRAS
26 colorectal adenocarcinoma 26.6 CDH1 CTNNB1 KRAS MLH1 MSH2 MSH6
27 ovarian cancer 25.8 CCND1 CDH1 CTNNB1 KRAS MLH1 MSH2
28 colorectal cancer 23.0 APC AXIN1 CCND1 CDH1 CTNNB1 HNF4A
29 familial adenomatous polyposis 3 12.5
30 familial adenomatous polyposis 4 12.5
31 familial adenomatous polyposis 2 12.5
32 familial adenomatous polyposis due to 5q22.2 microdeletion 12.2
33 axin2-related attenuated familial adenomatous polyposis 12.2
34 desmoid tumor 11.6
35 thyroid cancer, nonmedullary, 1 11.5
36 thyroid cancer, nonmedullary, 2 11.1
37 thyroid cancer, nonmedullary, 3 11.1
38 familial stomach cancer 11.1
39 duodenitis 10.7
40 protoplasmic astrocytoma 10.7 PTGS2 TP53
41 juvenile polyposis syndrome 10.7 APC MUTYH PTGS2
42 cerebral convexity meningioma 10.6 CDH1 TP53
43 actinic cheilitis 10.6 MSH2 TP53
44 female reproductive endometrioid cancer 10.6 CTNNB1 TP53
45 anal squamous cell carcinoma 10.6 APC MLH1 TP53
46 lower lip cancer 10.6 MLH1 MSH2
47 large intestine adenocarcinoma 10.6 CDH1 CTNNB1
48 thyroiditis 10.6
49 vulvar intraepithelial neoplasia 10.6 CDH1 TP53
50 bowenoid papulosis 10.5 CCND1 PTGS2

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 9.5 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1
2 Decreased influenza A/WSN/33 replication GR00195-A-1 9.46 AXIN1 CTNNB1 MYC NTHL1
3 Reduced mammosphere formation GR00396-S 9.23 CCND1 CDH1 HNF4A KRAS MUTYH MYC

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.52 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
2 homeostasis/metabolism MP:0005376 10.4 CCND1 CDH1 CTNNB1 HNF4A KRAS MLH1
3 digestive/alimentary MP:0005381 10.35 MLH1 MSH2 MSH3 MYC PTGS2 TP53
4 mortality/aging MP:0010768 10.31 APC AXIN1 CCND1 CDH1 CTNNB1 HNF4A
5 behavior/neurological MP:0005386 10.3 APC APC2 AXIN1 CCND1 CTNNB1 KRAS
6 growth/size/body region MP:0005378 10.29 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
7 integument MP:0010771 10.27 APC CCND1 CDH1 CTNNB1 KRAS MLH1
8 cardiovascular system MP:0005385 10.25 APC AXIN1 CCND1 CDH1 CTNNB1 KRAS
9 neoplasm MP:0002006 10.25 MSH6 MUTYH MYC NTHL1 PTGS2 TP53
10 embryo MP:0005380 10.22 TP53 APC AXIN1 CDH1 CTNNB1 HNF4A
11 endocrine/exocrine gland MP:0005379 10.21 APC CCND1 CDH1 CTNNB1 KRAS MLH1
12 immune system MP:0005387 10.21 MSH6 MYC PTGS2 TP53 APC CCND1
13 nervous system MP:0003631 10.15 APC APC2 AXIN1 CCND1 CTNNB1 HNF4A
14 craniofacial MP:0005382 10.13 APC AXIN1 CCND1 CTNNB1 KRAS MYC
15 hearing/vestibular/ear MP:0005377 10.01 APC AXIN1 CTNNB1 KRAS MYC TP53
16 liver/biliary system MP:0005370 10 TP53 APC CTNNB1 HNF4A KRAS MYC
17 normal MP:0002873 10 APC AXIN1 CCND1 CDH1 CTNNB1 HNF4A
18 limbs/digits/tail MP:0005371 9.95 APC AXIN1 CTNNB1 KRAS MYC TP53
19 no phenotypic analysis MP:0003012 9.87 APC CDH1 CTNNB1 KRAS MYC PTGS2
20 reproductive system MP:0005389 9.7 CCND1 CDH1 CTNNB1 KRAS MLH1 MYC
21 pigmentation MP:0001186 9.55 APC CTNNB1 KRAS MYC TP53
22 respiratory system MP:0005388 9.17 MLH1 PTGS2 TP53 AXIN1 CCND1 CTNNB1
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 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Erythromycin Estolate Phase 4
5 Erythromycin Ethylsuccinate Phase 4
6 Erythromycin stearate Phase 4
7 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
8 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Anti-Inflammatory Agents 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 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Cyclooxygenase 2 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Peripheral Nervous System 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 70-26-8, 3184-13-2 6262
21 Cholagogues and Choleretics Phase 2, Phase 3,Phase 3
22 Antiparasitic Agents Phase 3,Phase 2
23 Antiprotozoal Agents Phase 3,Phase 2
24 Protective Agents Phase 2, Phase 3
25 Antidiarrheals Phase 3
26 Cola Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
27 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
28
Metformin Approved Phase 2 657-24-9 14219 4091
29
Curcumin Approved, Investigational Phase 2,Not Applicable 458-37-7 969516
30
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
31
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
32
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
33
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
34
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
35 Hypoglycemic Agents Phase 2
36 Turmeric extract Phase 2
37
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
38 Protein Kinase Inhibitors Phase 2
39 Retinol palmitate Phase 2
40 Antibiotics, Antitubercular Phase 2,Phase 1
41 Antifungal Agents Phase 2,Phase 1
42 Immunosuppressive Agents Phase 2,Phase 1
43 Antioxidants Phase 2
44 Turmeric Nutraceutical Phase 2
45 retinol Nutraceutical Phase 2
46
Bevacizumab Approved, Investigational Phase 1 216974-75-3
47
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
48 Raspberry Approved, Nutraceutical Phase 1
49 Angiogenesis Inhibitors Phase 1
50 Angiogenesis Modulating Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 77)
# 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 Primary Chemoprevention of Familial Adenomatous Polyposis With Berberine Hydrochloride Recruiting NCT03333265 Phase 2, Phase 3 100mg Berberine hydrochloride;300mg Berberine hydrochloride;Placebo Oral Tablet
10 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
11 Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) Terminated NCT00585312 Phase 3 Celecoxib;Placebo
12 Coxib-inhibition of Duodenal Polyp Growth in FAP Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
13 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
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 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
21 Sirolimus and Familial Adenomatous Polyposis (FAP) Recruiting NCT03095703 Phase 2 Sirolimus
22 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
23 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
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 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP) Unknown status NCT02656134
33 Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard Endoscopy Unknown status NCT00253812 Not Applicable
34 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
35 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Not Applicable Calcumin (Curcumin)
36 Endoscopic Papillectomy for Ampullary Adenomas Completed NCT03494543
37 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250 Not Applicable
38 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
39 Dual Focus NBI and pCLE in FAP Related Duodenal Adenoma Completed NCT02162173 Not Applicable
40 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
41 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
42 Evaluation of Oesogastroduodenoscopy With Vision to 245 ° (Full Spectrum Endoscopy) to View the Main Disc and Accessory Completed NCT02859883
43 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953 Not Applicable
44 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469
45 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
46 Single Incision Laparoscopic Surgery in Treating Patients With Colorectal Disease Completed NCT01656746 Not Applicable
47 Calcium/Vitamin D, Biomarkers & Colon Polyp Prevention Completed NCT00399607
48 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
49 Endoscopic Evaluation of Duodenal Polyposis in Patients With Familial Adenomatous Polyposis (FAP) Recruiting NCT03346980
50 Cold Snare Polypectomy for Duodenal Adenomas in Familial Adenomatous Polyposis Recruiting NCT03471403

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, Bone, Small Intestine, Thyroid, Skin, Testes, Pancreas
Sources

Publications for Familial Adenomatous Polyposis

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Articles related to Familial Adenomatous Polyposis:

(show top 50) (show all 998)
# 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
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
27
Patients with familial adenomatous polyposis harbor colonic biofilms containing tumorigenic bacteria. ( 29420293 )
2018
28
NOD2 genetic variants predispose one of two familial adenomatous polyposis siblings to pouchitis through microbiome dysbiosis. ( 28633443 )
2017
29
Coexistence of Peripheral Spondyloarthritis and Familial Adenomatous Polyposis: A Rare Case Report with Treatment Contradictions and Review of the Literature. ( 29217947 )
2017
30
Longitudinal analysis of colon crypt stem cell dynamics in sulindac treated Familial Adenomatous Polyposis patients. ( 28931879 )
2017
31
Endoscopic Ultrasound Imaging Detection of Gastric Cancer in Familial Adenomatous Polyposis. ( 28601481 )
2017
32
Initial experience with taTME in patients undergoing laparoscopic restorative proctocolectomy for familial adenomatous polyposis. ( 29168141 )
2017
33
Surveillance of Duodenal Polyposis in Familial Adenomatous Polyposis: Should the Spigelman Score Be Modified? ( 28991077 )
2017
34
Complete Reversion of Familial Adenomatous Polyposis Phenotype Associated with Tacrolimus and Mycophenolate Mofetil Treatment Following Kidney Transplantation. ( 28551651 )
2017
35
WNT Inhibitory Activity of Malus Pumila miller cv Annurca and Malus domestica cv Limoncella Apple Extracts on Human Colon-Rectal Cells Carrying Familial Adenomatous Polyposis Mutations. ( 29156563 )
2017
36
Desmoid Tumors in Familial Adenomatous Polyposis. ( 28668823 )
2017
37
ALK-positive gastric inflammatory myofibroblastic tumor in an adult with familial adenomatous polyposis and diffuse fundic polyposis. ( 28923119 )
2017
38
Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms? ( 27844202 )
2017
39
Advanced duodenal neoplasia and carcinoma in familial adenomatous polyposis: outcomes of surgical management. ( 29184692 )
2017
40
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
41
Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression. ( 28747659 )
2017
42
Familial Adenomatous Polyposis Registry in Czech Republic - History, Present and Future. ( 28591553 )
2017
43
Feasibility of endoscopic resection using bipolar snare for nonampullary duodenal tumours in familial adenomatous polyposis patients. ( 29189961 )
2017
44
Familial Adenomatous Polyposis with Multiple Helicobacter-negative Early Gastric Cancers Treated by Endoscopic Submucosal Dissection. ( 29021452 )
2017
45
Children's International Polyposis (CHIP) study: a randomized, double-blind, placebo-controlled study of celecoxib in children with familial adenomatous polyposis. ( 28765715 )
2017
46
Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP). ( 28075483 )
2017
47
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. ( 28891849 )
2017
48
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype. ( 28791770 )
2017
49
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. ( 28533537 )
2017
50
An Unusual Case of Familial Adenomatous Polyposis Presenting with Gout and Jaundice. ( 28944114 )
2017
Sources

Variations for Familial Adenomatous Polyposis

About this section

ClinVar genetic disease variations for Familial Adenomatous Polyposis:

6
(show top 50) (show all 269)
# 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.423-1G> A single nucleotide variant Pathogenic rs397514031 GRCh37 Chromosome 5, 112111325: 112111325
20 APC NM_000038.5(APC): c.423-1G> A single nucleotide variant Pathogenic rs397514031 GRCh38 Chromosome 5, 112775628: 112775628
21 APC NM_000038.5(APC): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic rs397515734 GRCh37 Chromosome 5, 112128191: 112128191
22 APC NM_000038.5(APC): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic rs397515734 GRCh38 Chromosome 5, 112792494: 112792494
23 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh37 Chromosome 5, 112102077: 112102077
24 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh38 Chromosome 5, 112766380: 112766380
25 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 NCBI36 Chromosome 5, 112129976: 112129976
26 APC NM_000038.5(APC): c.3183_3187delACAAA (p.Gln1062Terfs) deletion Pathogenic rs587779352 GRCh37 Chromosome 5, 112174474: 112174478
27 APC NM_000038.5(APC): c.3183_3187delACAAA (p.Gln1062Terfs) deletion Pathogenic rs587779352 GRCh38 Chromosome 5, 112838777: 112838781
28 APC NM_000038.5(APC): c.3202_3205delTCAA (p.Ser1068Glyfs) deletion Pathogenic rs587779353 GRCh37 Chromosome 5, 112174493: 112174496
29 APC NM_000038.5(APC): c.3202_3205delTCAA (p.Ser1068Glyfs) deletion Pathogenic rs587779353 GRCh38 Chromosome 5, 112838796: 112838799
30 APC NM_000038.5(APC): c.3982C> T (p.Gln1328Ter) single nucleotide variant Pathogenic rs398123121 GRCh37 Chromosome 5, 112175273: 112175273
31 APC NM_000038.5(APC): c.3982C> T (p.Gln1328Ter) single nucleotide variant Pathogenic rs398123121 GRCh38 Chromosome 5, 112839576: 112839576
32 APC NM_000038.5(APC): c.1213C> T (p.Arg405Ter) single nucleotide variant Pathogenic rs587779780 GRCh38 Chromosome 5, 112819245: 112819245
33 APC NM_000038.5(APC): c.1213C> T (p.Arg405Ter) single nucleotide variant Pathogenic rs587779780 GRCh37 Chromosome 5, 112154942: 112154942
34 APC NM_000038.5(APC): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs587779783 GRCh38 Chromosome 5, 112838007: 112838007
35 APC NM_000038.5(APC): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs587779783 GRCh37 Chromosome 5, 112173704: 112173704
36 APC NM_000038.5(APC): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs62619935 GRCh38 Chromosome 5, 112792446: 112792446
37 APC NM_000038.5(APC): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs62619935 GRCh37 Chromosome 5, 112128143: 112128143
38 APC NM_000038.5(APC): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs587781392 GRCh37 Chromosome 5, 112116592: 112116592
39 APC NM_000038.5(APC): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs587781392 GRCh38 Chromosome 5, 112780895: 112780895
40 APC NM_000038.5(APC): c.147_150delACAA (p.Lys49Asnfs) deletion Pathogenic rs587781694 GRCh37 Chromosome 5, 112102034: 112102037
41 APC NM_000038.5(APC): c.147_150delACAA (p.Lys49Asnfs) deletion Pathogenic rs587781694 GRCh38 Chromosome 5, 112766337: 112766340
42 APC NM_000038.5(APC): c.220+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs587781809 GRCh37 Chromosome 5, 112102109: 112102109
43 APC NM_000038.5(APC): c.220+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs587781809 GRCh38 Chromosome 5, 112766412: 112766412
44 APC NM_000038.5(APC): c.426_427delAT (p.Leu143Alafs) deletion Pathogenic rs587782557 GRCh37 Chromosome 5, 112111329: 112111330
45 APC NM_000038.5(APC): c.426_427delAT (p.Leu143Alafs) deletion Pathogenic rs587782557 GRCh38 Chromosome 5, 112775632: 112775633
46 APC NM_000038.5(APC): c.288T> A (p.Tyr96Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376213437 GRCh38 Chromosome 5, 112767256: 112767256
47 APC NM_000038.5(APC): c.288T> A (p.Tyr96Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376213437 GRCh37 Chromosome 5, 112102953: 112102953
48 APC NM_000038.5(APC): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145945630 GRCh37 Chromosome 5, 112090657: 112090657
49 APC NM_000038.5(APC): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145945630 GRCh38 Chromosome 5, 112754960: 112754960
50 APC NM_000038.5(APC): c.847C> T (p.Arg283Ter) single nucleotide variant Pathogenic rs786201856 GRCh37 Chromosome 5, 112151204: 112151204
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 71)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.89 APC AXIN1 CCND1 CDH1 CTNNB1 HNF4A
2
DNA Double-Strand Break Repair 66
Show member pathways
 13.26 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1
3
Aldosterone synthesis and secretion 37
Show member pathways
 13.06 APC APC2 AXIN1 CCND1 CTNNB1 KRAS
4
TCR Signaling (Qiagen) 64
Show member pathways
 12.98 KRAS MLH1 MSH2 MSH3 MSH6 NTHL1
5
PI3K-Akt signaling pathway 37
Show member pathways
 12.97 APC APC2 AXIN1 CCND1 CTNNB1 KRAS
6
Glioma 37
Show member pathways
 12.8 CCND1 CDH1 KRAS MSH6 TP53
7
Development HGF signaling pathway 22
Show member pathways
 12.77 APC CDH1 CTNNB1 KRAS PTGS2 TP53
8
Chks in Checkpoint Regulation 64
Show member pathways
 12.76 CCND1 MSH2 MSH3 MSH6 MYC NTHL1
9
Pathways in cancer 37
12.72 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
10
Gastric cancer 37
Show member pathways
 12.69 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
11
Immune response IL-23 signaling pathway 22
Show member pathways
 12.64 CTNNB1 KRAS MSH2 MYC TP53
12
Kaposi's sarcoma-associated herpesvirus infection 37
Show member pathways
 12.64 CCND1 CTNNB1 KRAS MYC PTGS2 TP53
13
Development EGFR signaling pathway 22
Show member pathways
 12.61 CCND1 CDH1 CTNNB1 KRAS MYC TP53
14
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.61 APC APC2 AXIN1 CCND1 CTNNB1 MYC
15
Mesodermal Commitment Pathway 1
Show member pathways
 12.58 APC AXIN1 CCND1 CTNNB1 HNF4A
16
DNA Damage 4
12.58 CCND1 MLH1 MSH2 MSH6 MUTYH TP53
17
MicroRNAs in cancer 37
12.57 APC APC2 CCND1 KRAS MYC PTGS2
18
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.51 APC AXIN1 KRAS TP53
19
Endometrial cancer 37
Show member pathways
 12.51 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
20
ErbB signaling pathway 1 37
Show member pathways
 12.49 CCND1 KRAS MYC TP53
21
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.49 APC AXIN1 CTNNB1 HNF4A
22
HTLV-I infection 37
12.46 APC APC2 CCND1 CTNNB1 KRAS MYC
23
Cell cycle 1 37
12.43 APC CCND1 CDH1 MYC TP53
24
Proteoglycans in cancer 37
12.36 CCND1 CTNNB1 KRAS MYC TP53
25
Cellular senescence (KEGG) 37
12.22 CCND1 KRAS MYC TP53
26
Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling 65
Show member pathways
 12.21 APC APC2 AXIN1 CTNNB1 TP53
27
AKT Signaling Pathway 67
12.19 CCND1 KRAS MYC TP53
28
Hippo signaling pathway 37
12.19 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
29
Presenilin-Mediated Signaling 64
12.16 APC AXIN1 CDH1 CTNNB1
30
Signaling pathways regulating pluripotency of stem cells 37
12.16 APC APC2 AXIN1 CTNNB1 KRAS MYC
31
TGF-beta Signaling Pathway (WikiPathways) 1
12.13 AXIN1 CCND1 MYC TP53
32
Direct p53 effectors 1
12.12 APC MLH1 MSH2 TP53
33
G12-G13 in Cellular Signaling 64
12.1 APC AXIN1 CDH1 CTNNB1 KRAS
34
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 12.09 CCND1 KRAS MYC
35
Spinal Cord Injury 1
12.07 CCND1 MYC PTGS2 TP53
36
Thyroid hormone signaling pathway 37
12.07 CCND1 CTNNB1 KRAS MYC TP53
37
Integrated Breast Cancer Pathway 1
12.05 CCND1 CDH1 CTNNB1 KRAS MSH2 MSH6
38
Interleukin-4 and 13 signaling 66
12.04 CCND1 MYC PTGS2 TP53
39
DNA Damage Response (only ATM dependent) 1
12.04 APC AXIN1 CCND1 CTNNB1 KRAS MYC
40
Neural Crest Differentiation 1
11.99 AXIN1 CDH1 CTNNB1 MYC
41
Glioblastoma Multiforme 64
11.99 APC AXIN1 CCND1 CTNNB1 KRAS MYC
42
Mismatch repair 37 66 1
Show member pathways
 11.97 MLH1 MSH2 MSH3 MSH6
43
Cell cycle Cell cycle (generic schema) 22
Show member pathways
 11.95 APC AXIN1 CCND1 CDH1 CTNNB1 HNF4A
44
Small cell lung cancer 37
11.94 CCND1 MYC PTGS2 TP53
45
Retinoblastoma (RB) in Cancer 1
11.91 CCND1 MSH6 MYC TP53
46
TGF-beta Signaling Pathways 65
11.9 HNF4A KRAS MYC
47
Regulation of Wnt-mediated beta catenin signaling and target gene transcription 1
11.88 APC CCND1 CDH1 CTNNB1 MYC
48
Bladder cancer 37 1
11.84 CCND1 CDH1 KRAS MYC TP53
49
BRCA1 Pathway 64
Show member pathways
 11.83 MSH2 MSH6 TP53
50
Platinum drug resistance 37
11.83 MLH1 MSH2 MSH3 MSH6 TP53
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 12)
# Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 9.73 APC CDH1 CTNNB1 MCC
2 cell-cell adherens junction GO:0005913 9.67 APC CDH1 CTNNB1
3 lateral plasma membrane GO:0016328 9.62 APC AXIN1 CDH1 CTNNB1
4 Wnt signalosome GO:1990909 9.48 APC CTNNB1
5 flotillin complex GO:0016600 9.46 CDH1 CTNNB1
6 catenin complex GO:0016342 9.46 APC APC2 CDH1 CTNNB1
7 MutSalpha complex GO:0032301 9.4 MSH2 MSH6
8 MutSbeta complex GO:0032302 9.37 MSH2 MSH3
9 mismatch repair complex GO:0032300 9.26 MLH1 MSH2 MSH3 MSH6
10 beta-catenin destruction complex GO:0030877 8.92 APC APC2 AXIN1 CTNNB1
11 nucleus GO:0005634 10.32 APC AXIN1 CCND1 CTNNB1 HNF4A MCC
12 nucleoplasm GO:0005654 10.07 APC CCND1 CTNNB1 HNF4A MCC MLH1

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.99 APC AXIN1 MYC TP53
2 response to drug GO:0042493 9.99 CCND1 CDH1 CTNNB1 MYC PTGS2
3 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.97 APC AXIN1 CTNNB1 TP53
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.95 APC APC2 AXIN1 MCC
5 cell cycle arrest GO:0007050 9.91 APC MSH2 MYC TP53
6 response to estradiol GO:0032355 9.88 CCND1 CTNNB1 MYC PTGS2
7 Wnt signaling pathway GO:0016055 9.88 APC APC2 AXIN1 CCND1 CTNNB1 MCC
8 response to organic substance GO:0010033 9.87 CCND1 CDH1 PTGS2
9 positive regulation of protein catabolic process GO:0045732 9.85 APC APC2 AXIN1
10 response to glucocorticoid GO:0051384 9.84 CCND1 KRAS PTGS2
11 cellular response to UV GO:0034644 9.83 MYC PTGS2 TP53
12 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.83 MLH1 MSH2 MSH6
13 regulation of cell differentiation GO:0045595 9.8 APC APC2 CTNNB1
14 base-excision repair GO:0006284 9.79 MUTYH NTHL1 TP53
15 negative regulation of Wnt signaling pathway GO:0030178 9.78 APC APC2 AXIN1 CCND1
16 response to X-ray GO:0010165 9.74 CCND1 MSH2 TP53
17 beta-catenin destruction complex disassembly GO:1904886 9.73 APC AXIN1 CTNNB1
18 cell fate specification GO:0001708 9.72 APC APC2 CTNNB1
19 canonical Wnt signaling pathway GO:0060070 9.72 APC AXIN1 CCND1 CTNNB1 MYC
20 somatic hypermutation of immunoglobulin genes GO:0016446 9.71 MLH1 MSH2 MSH6
21 epithelial tube branching involved in lung morphogenesis GO:0060441 9.7 CTNNB1 KRAS
22 ovulation GO:0030728 9.69 MYC PTGS2
23 isotype switching GO:0045190 9.69 MLH1 MSH2 MSH6
24 entry of bacterium into host cell GO:0035635 9.68 CDH1 CTNNB1
25 mitotic G1 DNA damage checkpoint GO:0031571 9.68 CCND1 TP53
26 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 MLH1 MSH2
27 determination of adult lifespan GO:0008340 9.67 MSH2 MSH6 TP53
28 re-entry into mitotic cell cycle GO:0000320 9.66 CCND1 MYC
29 beta-catenin destruction complex assembly GO:1904885 9.64 APC AXIN1
30 cellular response to indole-3-methanol GO:0071681 9.63 CDH1 CTNNB1
31 positive regulation of isotype switching to IgA isotypes GO:0048298 9.63 MLH1 MSH2
32 positive regulation of helicase activity GO:0051096 9.63 MSH2 MSH3 MSH6
33 negative regulation of DNA recombination GO:0045910 9.61 MSH2 MSH3 MSH6
34 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.58 MLH1 MSH2
35 mismatch repair GO:0006298 9.55 MLH1 MSH2 MSH3 MSH6 MUTYH
36 maintenance of DNA repeat elements GO:0043570 9.54 MSH2 MSH3 MSH6
37 meiotic mismatch repair GO:0000710 9.43 MSH2 MSH3 MSH6
38 cellular response to DNA damage stimulus GO:0006974 9.32 APC CCND1 MLH1 MSH2 MSH3 MSH6
39 somatic recombination of immunoglobulin gene segments GO:0016447 9.26 MLH1 MSH2 MSH3 MSH6
40 positive regulation of transcription, DNA-templated GO:0045893 10.09 AXIN1 CDH1 CTNNB1 HNF4A MYC TP53
41 positive regulation of cell proliferation GO:0008284 10.08 CCND1 CTNNB1 KRAS MYC PTGS2
42 negative regulation of cell proliferation GO:0008285 10.06 APC CTNNB1 HNF4A PTGS2 TP53
43 cell proliferation GO:0008283 10.04 APC APC2 CTNNB1 MYC TP53
44 cytokine-mediated signaling pathway GO:0019221 10 CCND1 KRAS MYC PTGS2 TP53
45 DNA repair GO:0006281 10 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1

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 9.97 APC AXIN1 CCND1 CTNNB1 MSH2 TP53
2 enzyme binding GO:0019899 9.87 AXIN1 CCND1 CTNNB1 MSH2 MSH3 PTGS2
3 double-stranded DNA binding GO:0003690 9.86 MSH2 MSH6 MYC NTHL1
4 single-stranded DNA binding GO:0003697 9.8 MLH1 MSH2 MSH3
5 beta-catenin binding GO:0008013 9.78 APC APC2 AXIN1 CDH1
6 DNA-dependent ATPase activity GO:0008094 9.77 MSH2 MSH3 MSH6
7 damaged DNA binding GO:0003684 9.76 MSH2 MSH3 MSH6 TP53
8 four-way junction DNA binding GO:0000400 9.63 MSH2 MSH6
9 DNA N-glycosylase activity GO:0019104 9.62 MUTYH NTHL1
10 I-SMAD binding GO:0070411 9.61 AXIN1 CTNNB1
11 Y-form DNA binding GO:0000403 9.61 MSH2 MSH3
12 MutSalpha complex binding GO:0032407 9.6 MLH1 MUTYH
13 dinucleotide insertion or deletion binding GO:0032139 9.58 MSH2 MSH3
14 heteroduplex DNA loop binding GO:0000404 9.58 MSH2 MSH3
15 gamma-catenin binding GO:0045295 9.58 APC APC2 CDH1
16 single base insertion or deletion binding GO:0032138 9.57 MSH2 MSH6
17 single thymine insertion binding GO:0032143 9.54 MSH2 MSH6
18 MutLalpha complex binding GO:0032405 9.54 MSH2 MSH6 MUTYH
19 double-strand/single-strand DNA junction binding GO:0000406 9.52 MSH2 MSH3
20 dinucleotide repeat insertion binding GO:0032181 9.51 MSH2 MSH3
21 mismatched DNA binding GO:0030983 9.46 MLH1 MSH2 MSH3 MSH6
22 single guanine insertion binding GO:0032142 9.43 MSH2 MSH3 MSH6
23 oxidized purine DNA binding GO:0032357 9.26 MSH2 MSH3 MSH6 MUTYH
24 guanine/thymine mispair binding GO:0032137 8.92 MLH1 MSH2 MSH3 MSH6
25 protein binding GO:0005515 10.39 APC APC2 AXIN1 CCND1 CDH1 CTNNB1
26 protein homodimerization activity GO:0042803 10.09 AXIN1 CDH1 HNF4A MSH2 MSH3 MSH6
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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