FAP
MCID: FML346
MIFTS: 67

Familial Adenomatous Polyposis 1 (FAP)

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

Aliases & Classifications for Familial Adenomatous Polyposis 1

MalaCards integrated aliases for Familial Adenomatous Polyposis 1:

Name: Familial Adenomatous Polyposis 1 58 12 30 6
Gardner Syndrome 58 54 60 30 13 6 74
Brain Tumor-Polyposis Syndrome 2 58 30 6 74
Adenomatous Polyposis Coli 58 13 74
Familial Adenomatous Polyposis 60 76
Gardner's Syndrome 77 54
Fap 60 76
Polyposis Coli and Multiple Hard and Soft Tissue Tumors 54
Apc-Related Attenuated Familial Adenomatous Polyposis 60
Intestinal Polyposis, Osteomas, Sebaceous Cysts 54
Apc-Related Attenuated Familial Polyposis Coli 60
Adenomatous Polyposis Coli, Susceptibility to 6
Adenomatous Polyposis of the Colon; Apc 58
Adenomatous Polyposis, Familial, Type 1 41
Familial Polyposis of the Colon; Fpc 58
Adenomatous Polyposis of the Colon 58
Polyposis, Adenomatous Intestinal 58
Colorectal Adenomatous Polyposis 60
Familial Polyposis of the Colon 58
Turcot Syndrome with Polyposis 60
Apc-Related Attenuated Fap 60
Familial Polyposis Coli 60
Gardners Syndrome 56
Apc-Related Afap 60
Fap1 58
Apc 58
Fpc 58

Characteristics:

Orphanet epidemiological data:

60
familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Denmark),1-9/100000 (Denmark),1-9/100000 (Sweden),1-5/10000 (Finland),1-9/100000 (Finland),1-5/10000 (United Kingdom),1-9/100000 (United Kingdom),1-9/1000000 (Australia),1-9/100000 (Australia); Age of onset: Adult; Age of death: adult;
apc-related attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive;
turcot syndrome with polyposis
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
prevalence 1 in 8000
polyps occur in teens
colorectal cancer develops by fourth decade in untreated patients


HPO:

33
familial adenomatous polyposis 1:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Familial Adenomatous Polyposis 1

NIH Rare Diseases : 54 Gardner syndromeis a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes (mutations) in the APC gene and inherited in an autosomal dominant manner. Although there is no cure for Gardner syndrome, management options are available to reduce the risk of cancer. These may include high risk screening, prophylactic surgeries and/or certain types of medications.

MalaCards based summary : Familial Adenomatous Polyposis 1, also known as gardner syndrome, is related to familial adenomatous polyposis and mismatch repair cancer syndrome, and has symptoms including abdominal pain and diarrhea. An important gene associated with Familial Adenomatous Polyposis 1 is APC (APC Regulator Of WNT Signaling Pathway), and among its related pathways/superpathways are Gastric cancer and Development HGF signaling pathway. The drugs Erythromycin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and skin, and related phenotypes are multiple gastric polyps and adenomatous colonic polyposis

Disease Ontology : 12 A familial adenomatous polyposis that has material basis in heterozygous mutation in the APC gene on chromosome 5q22.

OMIM : 58 Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991). Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. (175100)

UniProtKB/Swiss-Prot : 76 Familial adenomatous polyposis: A cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years.

Wikipedia : 77 Gardner syndrome, also known as Gardner''s syndrome or familial colorectal polyposis, is a subtype of... more...

Related Diseases for Familial Adenomatous Polyposis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 425)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 33.1 APC CTNNB1
2 mismatch repair cancer syndrome 32.5 APC CTNNB1
3 colon adenocarcinoma 32.0 APC CTNNB1
4 intestinal benign neoplasm 31.9 APC CTNNB1
5 desmoid disease, hereditary 31.9 APC CTNNB1
6 desmoid tumor 31.8 APC CTNNB1
7 gastric adenocarcinoma 31.6 APC CTNNB1
8 peutz-jeghers syndrome 31.4 APC CTNNB1
9 large intestine cancer 31.4 APC CTNNB1
10 hepatic adenomas, familial 31.3 APC CTNNB1
11 lung cancer susceptibility 3 31.3 APC CTNNB1
12 medulloblastoma 31.2 APC CTNNB1
13 adamantinoma of long bones 30.9 APC CTNNB1
14 adenoma 30.0 APC CTNNB1
15 adenocarcinoma 29.8 APC CTNNB1
16 hepatoblastoma 29.7 APC CTNNB1
17 lynch syndrome 29.7 APC CTNNB1
18 thyroid cancer 29.6 APC CTNNB1
19 fibromatosis 29.5 APC CTNNB1
20 colorectal adenoma 29.5 APC CTNNB1
21 amyloidosis, hereditary, transthyretin-related 12.2
22 samson gardner syndrome 12.2
23 apc-associated polyposis conditions 12.2
24 attenuated familial adenomatous polyposis 12.1
25 thrombophilia due to activated protein c resistance 12.1
26 familial adenomatous polyposis 2 11.7
27 mutyh-associated polyposis 11.5
28 colon adenoma 11.4
29 gastric adenocarcinoma and proximal polyposis of the stomach 11.4
30 cholangiocarcinoma 11.4
31 intrahepatic cholangiocarcinoma 11.4
32 breast ductal carcinoma 11.4
33 barrett esophagus 11.4
34 glioma 11.4
35 gastric cancer 11.4
36 epidermoid cysts 11.3
37 fourth cranial nerve palsy 11.3
38 cranial nerve palsy 11.3
39 hyperplastic polyposis syndrome 11.3
40 thyroid cancer, nonmedullary, 2 11.3
41 thyroid cancer, nonmedullary, 3 11.3
42 familial stomach cancer 11.3
43 factor v leiden thrombophilia 11.3
44 hemophagocytic lymphohistiocytosis, familial, 5 11.3
45 infiltrative basal cell carcinoma 11.3
46 polyposis, gastric 11.2
47 mccune-albright syndrome 11.1
48 fibrous dysplasia 11.1
49 rectum cancer 11.1
50 pseudohypoparathyroidism 11.1

Graphical network of the top 20 diseases related to Familial Adenomatous Polyposis 1:



Diseases related to Familial Adenomatous Polyposis 1

Symptoms & Phenotypes for Familial Adenomatous Polyposis 1

Human phenotypes related to Familial Adenomatous Polyposis 1:

60 33 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple gastric polyps 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0004394
2 adenomatous colonic polyposis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0005227
3 colon cancer 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Very frequent (99-80%) HP:0003003
4 duodenal polyposis 60 33 very rare (1%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0004783
5 lipoma 60 33 very rare (1%) Very rare (<4-1%),Frequent (79-30%) HP:0012032
6 congenital hypertrophy of retinal pigment epithelium 60 33 occasional (7.5%) Very rare (<4-1%),Frequent (79-30%) HP:0007649
7 thyroid nodule 60 33 very rare (1%) Very rare (<4-1%),Frequent (79-30%) HP:0025388
8 increased number of teeth 60 33 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%),Occasional (29-5%) HP:0011069
9 adrenocortical adenoma 60 33 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0008256
10 keloids 60 33 occasional (7.5%) Occasional (29-5%) HP:0010562
11 abnormality of skin pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001000
12 desmoid tumors 60 33 very rare (1%) Very rare (<4-1%),Occasional (29-5%),Very rare (<4-1%) HP:0100245
13 multiple unerupted teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0006283
14 epidermoid cyst 60 33 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%),Frequent (79-30%) HP:0200040
15 papillary thyroid carcinoma 60 33 very rare (1%) Very rare (<4-1%),Occasional (29-5%),Occasional (29-5%) HP:0002895
16 fibroadenoma of the breast 60 33 occasional (7.5%) Very rare (<4-1%) HP:0010619
17 osteoma 60 33 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%) HP:0100246
18 carious teeth 33 occasional (7.5%) HP:0000670
19 unerupted tooth 33 occasional (7.5%) HP:0000706
20 intellectual disability, moderate 60 33 very rare (1%) Very rare (<4-1%) HP:0002342
21 odontoma 60 33 very rare (1%) Occasional (29-5%),Very rare (<4-1%),Very rare (<4-1%) HP:0011068
22 adrenocortical carcinoma 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0006744
23 breast carcinoma 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0003002
24 astrocytoma 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%),Very rare (<4-1%) HP:0009592
25 neoplasm of the pancreas 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002894
26 gastrointestinal carcinoma 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002672
27 hepatoblastoma 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002884
28 medulloblastoma 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%),Very frequent (99-80%) HP:0002885
29 pilomatrixoma 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%),Very rare (<4-1%) HP:0030434
30 prostate cancer 60 33 very rare (1%) Very rare (<4-1%) HP:0012125
31 duodenal adenocarcinoma 60 33 very rare (1%) Very rare (<4-1%) HP:0006771
32 esophageal carcinoma 60 33 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0011459
33 brain neoplasm 60 33 very rare (1%) Very rare (<4-1%),Obligate (100%) HP:0030692
34 small intestine carcinoid 60 33 very rare (1%) Very rare (<4-1%) HP:0006722
35 ampulla of vater carcinoma 60 33 very rare (1%) Very rare (<4-1%) HP:0031524
36 multiple lipomas 60 33 Occasional (29-5%) HP:0001012
37 ataxia 60 Very rare (<4-1%)
38 constipation 60 Frequent (79-30%)
39 hearing impairment 60 Occasional (29-5%)
40 increased intracranial pressure 60 Occasional (29-5%)
41 abnormality of the dentition 60 Occasional (29-5%)
42 visual impairment 60 Occasional (29-5%)
43 vomiting 60 Occasional (29-5%)
44 abdominal pain 60 Occasional (29-5%)
45 neoplasm 60 Frequent (79-30%)
46 delayed eruption of teeth 60 Occasional (29-5%)
47 abnormality of the macula 60 Very rare (<4-1%)
48 irregular hyperpigmentation 60 Occasional (29-5%)
49 fibroma 60 Occasional (29-5%)
50 neoplasm of the central nervous system 60 Occasional (29-5%),Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
multiple gastric polyps
multiple colonic adenomatous polyps
multiple duodenal polyps
mesenteric fibromatosis

Neoplasia:
astrocytoma
hepatoblastoma
medulloblastoma
fibrosarcoma
small intestine carcinoid
more
Head And Neck Eyes:
congenital hypertrophy of retinal pigment epithelium (chrpe)

Skeletal Skull:
skull osteomas, especially involving the mandibular angle

Skin Nails Hair Skin:
keloids
lipomas
epidermoid inclusion cysts
fibromas
lipofibromas
more
Head And Neck Teeth:
supernumerary teeth
dental caries
unerupted teeth
odontomas

Chest Breasts:
mammary fibrosis

Skeletal Limbs:
endosteal and exosteal osteomas

Clinical features from OMIM:

175100

UMLS symptoms related to Familial Adenomatous Polyposis 1:


abdominal pain, diarrhea

GenomeRNAi Phenotypes related to Familial Adenomatous Polyposis 1 according to GeneCards Suite gene sharing:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 CTNNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.85 CTNNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.85 APC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.85 APC CTNNB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.85 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.85 CTNNB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.85 APC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.85 APC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.85 CTNNB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.85 APC CTNNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.85 CTNNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.85 CTNNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.85 APC CTNNB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.85 CTNNB1
15 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.96 APC CTNNB1

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 APC CTNNB1

Drugs & Therapeutics for Familial Adenomatous Polyposis 1

Drugs for Familial Adenomatous Polyposis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 441411 12560
2 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Erythromycin stearate Phase 4
5 Erythromycin Estolate Phase 4
6 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
7 Erythromycin Ethylsuccinate Phase 4
8 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Cyclooxygenase 2 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Cyclooxygenase Inhibitors 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 1548887 5352
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 Omega 3 Fatty Acid Phase 2, Phase 3,Phase 3
23 Cola Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
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
Curcumin Approved, Experimental, Investigational Phase 2,Not Applicable 458-37-7 969516
29
Turmeric Approved, Experimental, Investigational Phase 2
30
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 5284616 6436030
31
Everolimus Approved Phase 2,Phase 1 159351-69-6 70789204 6442177
32
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
33
Metformin Approved Phase 2 657-24-9 14219 4091
34
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
36 Protein Kinase Inhibitors Phase 2
37
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
38 retinol Phase 2
39 Retinol palmitate Phase 2
40 Turmeric extract Phase 2
41 Immunologic Factors Phase 2,Phase 1
42 Antibiotics, Antitubercular Phase 2,Phase 1
43 Immunosuppressive Agents Phase 2,Phase 1
44 Antifungal Agents Phase 2,Phase 1
45 Hypoglycemic Agents Phase 2
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 84)
# Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4 Erythromycin
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Unknown status NCT02354560 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 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 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
19 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2 Curcumin
20 Sirolimus and Familial Adenomatous Polyposis (FAP) Completed NCT03095703 Phase 2 Sirolimus
21 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Recruiting NCT01725490 Phase 2 Metformin;Metformin;Placebo
22 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Recruiting NCT02961374 Phase 2 Erlotinib;Erlotinib Hydrochloride
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 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 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1 Acetylsalicylic acid
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 Evaluation of Oesogastroduodenoscopy With Vision to 245 ° (Full Spectrum Endoscopy) to View the Main Disc and Accessory Completed NCT02859883
44 Malnutrition Associated With Complications After Ileostomy Reversal Completed NCT03909542
45 Complications and Outcomes of Pouch Excision Completed NCT03952195
46 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
47 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
48 Personalized Surveillance Protocol for Serrated Polyposis Syndrome Completed NCT03450889
49 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953 Not Applicable
50 Genetic Analysis of Hereditary Prostate Cancer Completed NCT00001469

Search NIH Clinical Center for Familial Adenomatous Polyposis 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Familial Adenomatous Polyposis 1

Genetic tests related to Familial Adenomatous Polyposis 1:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 1 30 APC
2 Gardner Syndrome 30
3 Brain Tumor-Polyposis Syndrome 2 30

Anatomical Context for Familial Adenomatous Polyposis 1

MalaCards organs/tissues related to Familial Adenomatous Polyposis 1:

42
Colon, Thyroid, Skin, Pancreas, Bone, Breast, Brain

Publications for Familial Adenomatous Polyposis 1

Articles related to Familial Adenomatous Polyposis 1:

(show top 50) (show all 146)
# Title Authors Year
1
Gardner syndrome with maxillofacial manifestation: A case report. ( 30417483 )
2019
2
Identification of aggressive Gardner syndrome phenotype associated with a de novo APC Variant, c.4666dup. ( 30696621 )
2019
3
A Case Report on Gardner Syndrome With Dental Implant Treatment and a Long-Term Follow-Up. ( 30959012 )
2019
4
Identification of a mutL‑homolog 1 mutation via whole‑exome sequencing in a Chinese family with Gardner syndrome. ( 29845239 )
2018
5
Head and neck presentation of Gardner Syndrome: A pediatric case series. ( 29859582 )
2018
6
Orthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome. ( 27501963 )
2017
7
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
8
Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. ( 28035305 )
2016
9
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. ( 27087319 )
2016
10
Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome. ( 26995577 )
2016
11
Gardner Syndrome With Unusual Maxillofacial Manifestation. ( 27391496 )
2016
12
Ameloblastic carcinoma with features of ghost cell odontogenic carcinoma in a patient with suspected Gardner syndrome. ( 25434693 )
2015
13
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. ( 25452455 )
2015
14
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
15
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. ( 25645574 )
2015
16
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). ( 24310308 )
2014
17
Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years. ( 23114473 )
2013
18
Novel mouse model for Gardner syndrome generated by a large-scale N-ethyl-N-nitrosourea mutagenesis program. ( 23551873 )
2013
19
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
20
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. ( 21813476 )
2012
21
Desmoid tumors of the bilateral breasts in a patient without Gardner syndrome: a case report and review of literature. ( 21629058 )
2012
22
Peripheral osteoma bilateral of the mandible without association with Gardner syndrome. ( 22446465 )
2012
23
Successful iterative percutaneous cryoablation of multiple extraabdominal desmoid tumors in a patient with Gardner syndrome. ( 22840810 )
2012
24
Gardner syndrome. ( 23264869 )
2012
25
Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). ( 21368914 )
2011
26
Refractory ulcerative chronic pouchitis in a patient with Gardner syndrome following restorative proctocolectomy with ileal pouch-anal anastomosis. ( 22149567 )
2011
27
Primary cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome. ( 21216148 )
2011
28
Gardner syndrome: presurgical planning and surgical management of craniomaxillofacial osteomas. ( 21558892 )
2011
29
Multiple nuchal fibromas in a 2-year-old without Gardner syndrome. ( 21950671 )
2011
30
Multiple scalp epidermoid cysts in a child with Gardner syndrome. ( 20872138 )
2010
31
Gardner syndrome complicated with hydronephrosis. A case report. ( 22470715 )
2010
32
Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? ( 20110204 )
2010
33
Gardner syndrome: skin manifestations, differential diagnosis and management. ( 20141232 )
2010
34
The surgical management of oral and maxillofacial manifestations of Gardner syndrome. ( 20594634 )
2010
35
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. ( 20685668 )
2010
36
A case report of Gardner syndrome with hereditary widespread osteomatous jaw lesions. ( 19157925 )
2009
37
Gardner syndrome with no clinical family history. ( 19568185 )
2009
38
APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case. ( 19617769 )
2009
39
Images in cardiovascular medicine. Left atrial fibroma in gardner syndrome: real-time 3-dimensional transesophageal echo imaging. ( 19001028 )
2008
40
Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. ( 18395919 )
2008
41
One of the rarest syndromes in dentistry: gardner syndrome. ( 19212549 )
2008
42
Intraosseous pilomatricoma: a possible rare skeletal manifestation of Gardner syndrome. ( 17235575 )
2007
43
General practitioner's radiology case 50. Gardner syndrome. ( 17612387 )
2007
44
Primary cerebellopontine angle craniopharyngioma in a patient with gardner syndrome. Case report and review of the literature. ( 17219843 )
2006
45
Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the APC gene. ( 16433700 )
2006
46
Case records of the Massachusetts General Hospital. Case 37-2006. A 19-year-old woman with thyroid cancer and lower gastrointestinal bleeding. ( 17135589 )
2006
47
Ocular manifestations of familial adenomatous polyposis (Gardner syndrome). ( 15763201 )
2005
48
Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands. ( 15771908 )
2005
49
Something not quite right: Gardner syndrome diagnosed by multiple cutaneous lesions and genetic testing. ( 16353862 )
2005
50
Pilomatricoma-like changes in the epidermoid cysts of Gardner syndrome with an APC gene mutation. ( 15187352 )
2004

Variations for Familial Adenomatous Polyposis 1

UniProtKB/Swiss-Prot genetic disease variations for Familial Adenomatous Polyposis 1:

76 (show all 11)
# Symbol AA change Variation ID SNP ID
1 APC p.Ser171Ile VAR_005032
2 APC p.Arg414Cys VAR_005033 rs137854567
3 APC p.Ser784Thr VAR_005034
4 APC p.Glu911Gly VAR_005038
5 APC p.Pro1176Leu VAR_005044
6 APC p.Thr1313Ala VAR_005051 rs863225349
7 APC p.Arg1348Trp VAR_005053
8 APC p.Ser2621Cys VAR_005056 rs72541816
9 APC p.Leu2839Phe VAR_005057 rs876658156
10 APC p.Ser722Gly VAR_009614
11 APC p.Ala1184Pro VAR_009616

ClinVar genetic disease variations for Familial Adenomatous Polyposis 1:

6 (show top 50) (show all 5282)
# Gene Variation Type Significance SNP ID Assembly Location
1 APC NM_000038.5(APC): c.1311_1312+1delAAG deletion Pathogenic rs397514030 GRCh37 Chromosome 5, 112155040: 112155042
2 APC NM_000038.5(APC): c.1311_1312+1delAAG deletion Pathogenic rs397514030 GRCh38 Chromosome 5, 112819343: 112819345
3 APC NM_000038.5(APC): c.730_731delAG (p.Arg244Valfs) deletion Pathogenic rs387906228 GRCh37 Chromosome 5, 112136976: 112136977
4 APC NM_000038.5(APC): c.730_731delAG (p.Arg244Valfs) deletion Pathogenic rs387906228 GRCh38 Chromosome 5, 112801279: 112801280
5 APC NM_000038.5(APC): c.1369del (p.Ser457Hisfs) deletion Pathogenic rs387906229 GRCh37 Chromosome 5, 112157649: 112157649
6 APC NM_000038.5(APC): c.1369del (p.Ser457Hisfs) deletion Pathogenic rs387906229 GRCh38 Chromosome 5, 112821952: 112821952
7 APC NM_000038.5(APC): c.1500T> G (p.Tyr500Ter) single nucleotide variant Pathogenic rs387906230 GRCh37 Chromosome 5, 112162896: 112162896
8 APC NM_000038.5(APC): c.1500T> G (p.Tyr500Ter) single nucleotide variant Pathogenic rs387906230 GRCh38 Chromosome 5, 112827199: 112827199
9 APC NM_000038.5(APC): c.1240C> T (p.Arg414Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854567 GRCh37 Chromosome 5, 112154969: 112154969
10 APC NM_000038.5(APC): c.1240C> T (p.Arg414Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854567 GRCh38 Chromosome 5, 112819272: 112819272
11 APC NM_000038.5(APC): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs137854568 GRCh37 Chromosome 5, 112151261: 112151261
12 APC NM_000038.5(APC): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs137854568 GRCh38 Chromosome 5, 112815564: 112815564
13 APC NM_000038.5(APC): c.839C> G (p.Ser280Ter) single nucleotide variant Pathogenic rs137854569 GRCh37 Chromosome 5, 112151196: 112151196
14 APC NM_000038.5(APC): c.839C> G (p.Ser280Ter) single nucleotide variant Pathogenic rs137854569 GRCh38 Chromosome 5, 112815499: 112815499
15 APC NM_000038.5(APC): c.2138C> G (p.Ser713Ter) single nucleotide variant Pathogenic rs137854570 GRCh37 Chromosome 5, 112173429: 112173429
16 APC NM_000038.5(APC): c.2138C> G (p.Ser713Ter) single nucleotide variant Pathogenic rs137854570 GRCh38 Chromosome 5, 112837732: 112837732
17 APC NM_000038.5(APC): c.4012C> T (p.Gln1338Ter) single nucleotide variant Pathogenic rs121913327 GRCh37 Chromosome 5, 112175303: 112175303
18 APC NM_000038.5(APC): c.4012C> T (p.Gln1338Ter) single nucleotide variant Pathogenic rs121913327 GRCh38 Chromosome 5, 112839606: 112839606
19 APC NM_000038.5(APC): c.509_512delATAG (p.Asp170Valfs) deletion Pathogenic rs387906231 GRCh37 Chromosome 5, 112111412: 112111415
20 APC NM_000038.5(APC): c.509_512delATAG (p.Asp170Valfs) deletion Pathogenic rs387906231 GRCh38 Chromosome 5, 112775715: 112775718
21 APC NM_001127511.2(APC): c.1015dup (p.Ile339Asnfs) duplication Pathogenic rs387906232 GRCh37 Chromosome 5, 112154798: 112154798
22 APC NM_001127511.2(APC): c.1015dup (p.Ile339Asnfs) duplication Pathogenic rs387906232 GRCh38 Chromosome 5, 112819101: 112819101
23 APC NM_000038.5(APC): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic rs137854572 GRCh37 Chromosome 5, 112163698: 112163698
24 APC NM_000038.5(APC): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic rs137854572 GRCh38 Chromosome 5, 112828001: 112828001
25 APC NM_000038.5(APC): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs137854573 GRCh37 Chromosome 5, 112164586: 112164586
26 APC NM_000038.5(APC): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs137854573 GRCh38 Chromosome 5, 112828889: 112828889
27 APC NM_000038.5(APC): c.1690C> T (p.Arg564Ter) single nucleotide variant Pathogenic rs137854574 GRCh37 Chromosome 5, 112164616: 112164616
28 APC NM_000038.5(APC): c.1690C> T (p.Arg564Ter) single nucleotide variant Pathogenic rs137854574 GRCh38 Chromosome 5, 112828919: 112828919
29 APC NM_000038.5(APC): c.1885_1886insA (p.Leu629Tyrfs) insertion Pathogenic rs387906233 GRCh37 Chromosome 5, 112170789: 112170790
30 APC NM_000038.5(APC): c.1885_1886insA (p.Leu629Tyrfs) insertion Pathogenic rs387906233 GRCh38 Chromosome 5, 112835092: 112835093
31 APC NM_000038.5(APC): c.2805C> A (p.Tyr935Ter) single nucleotide variant Pathogenic rs137854575 GRCh37 Chromosome 5, 112174096: 112174096
32 APC NM_000038.5(APC): c.2805C> A (p.Tyr935Ter) single nucleotide variant Pathogenic rs137854575 GRCh38 Chromosome 5, 112838399: 112838399
33 APC NM_000038.5(APC): c.4393_4394delAG (p.Ser1465Trpfs) deletion Pathogenic rs387906234 GRCh37 Chromosome 5, 112175684: 112175685
34 APC NM_000038.5(APC): c.4393_4394delAG (p.Ser1465Trpfs) deletion Pathogenic rs387906234 GRCh38 Chromosome 5, 112839987: 112839988
35 APC NM_000038.5(APC): c.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906234 GRCh37 Chromosome 5, 112175682: 112175685
36 APC NM_000038.5(APC): c.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906234 GRCh38 Chromosome 5, 112839985: 112839988
37 APC NM_000038.5(APC): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs137854576 GRCh37 Chromosome 5, 112111373: 112111373
38 APC NM_000038.5(APC): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs137854576 GRCh38 Chromosome 5, 112775676: 112775676
39 APC NM_000038.5(APC): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs137854577 GRCh37 Chromosome 5, 112116598: 112116598
40 APC NM_000038.5(APC): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs137854577 GRCh38 Chromosome 5, 112780901: 112780901
41 APC NC_000005.10: g.112836913_112908314del71402 deletion Pathogenic GRCh37 Chromosome 5, 112172610: 112244011
42 APC NC_000005.10: g.112836913_112908314del71402 deletion Pathogenic GRCh38 Chromosome 5, 112836913: 112908314
43 APC NM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs) deletion Pathogenic rs121913224 GRCh37 Chromosome 5, 112175218: 112175222
44 APC NM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs) deletion Pathogenic rs121913224 GRCh38 Chromosome 5, 112839521: 112839525
45 APC NM_000038.5(APC): c.5942del (p.Asn1981Ilefs) deletion Pathogenic rs397509433 GRCh37 Chromosome 5, 112177233: 112177233
46 APC NM_000038.5(APC): c.5942del (p.Asn1981Ilefs) deletion Pathogenic rs397509433 GRCh38 Chromosome 5, 112841536: 112841536
47 APC NM_000038.5(APC): c.5582_5585delCTTT (p.Ser1861Terfs) deletion Pathogenic rs587776520 GRCh38 Chromosome 5, 112841176: 112841179
48 APC NM_000038.5(APC): c.5582_5585delCTTT (p.Ser1861Terfs) deletion Pathogenic rs587776520 GRCh37 Chromosome 5, 112176873: 112176876
49 APC NM_000038.5(APC): c.3920T> A (p.Ile1307Lys) single nucleotide variant risk factor rs1801155 GRCh37 Chromosome 5, 112175211: 112175211
50 APC NM_000038.5(APC): c.3920T> A (p.Ile1307Lys) single nucleotide variant risk factor rs1801155 GRCh38 Chromosome 5, 112839514: 112839514

Cosmic variations for Familial Adenomatous Polyposis 1:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM11354 TP53 large intestine,rectum,other,dysplasia c.991C>T p.Q331* 17:7673537-7673537 0
2 COSM11552 TP53 large intestine,colon,other,dysplasia c.775G>T p.D259Y 17:7674188-7674188 0
3 COSM14143 SMAD4 large intestine,rectum,other,dysplasia c.1546C>T p.Q516* 18:51078354-51078354 0
4 COSM521 KRAS large intestine,colon,other,dysplasia c.35G>A p.G12D 12:25245350-25245350 0
5 COSM528 KRAS large intestine,colon,other,dysplasia c.37G>A p.G13S 12:25245348-25245348 0
6 COSM516 KRAS large intestine,colon,other,dysplasia c.34G>T p.G12C 12:25245351-25245351 0
7 COSM532 KRAS large intestine,colon,other,dysplasia c.38G>A p.G13D 12:25245347-25245347 0
8 COSM28747 IDH1 large intestine,colon,other,dysplasia c.394C>T p.R132C 2:208248389-208248389 0

Expression for Familial Adenomatous Polyposis 1

Search GEO for disease gene expression data for Familial Adenomatous Polyposis 1.

Pathways for Familial Adenomatous Polyposis 1

Pathways related to Familial Adenomatous Polyposis 1 according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 APC CTNNB1
2
Show member pathways
12.27 APC CTNNB1
3
Show member pathways
12.1 APC CTNNB1
4
Show member pathways
12.07 APC CTNNB1
5
Show member pathways
12.06 APC CTNNB1
6 12.01 APC CTNNB1
7 11.95 APC CTNNB1
8
Show member pathways
11.94 APC CTNNB1
9
Show member pathways
11.88 APC CTNNB1
10 11.86 APC CTNNB1
11 11.81 APC CTNNB1
12 11.77 APC CTNNB1
13 11.71 APC CTNNB1
14 11.69 APC CTNNB1
15 11.67 APC CTNNB1
16 11.6 APC CTNNB1
17
Show member pathways
11.56 APC CTNNB1
18 11.56 APC CTNNB1
19
Show member pathways
11.56 APC CTNNB1
20 11.54 APC CTNNB1
21 11.5 APC CTNNB1
22 11.33 APC CTNNB1
23 11.25 APC CTNNB1
24 11.24 APC CTNNB1
25 11.09 APC CTNNB1
26 10.98 APC CTNNB1
27 10.89 APC CTNNB1
28 10.63 APC CTNNB1
29 10.34 APC CTNNB1
30 9.88 APC CTNNB1

GO Terms for Familial Adenomatous Polyposis 1

Cellular components related to Familial Adenomatous Polyposis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.46 APC CTNNB1
2 lamellipodium GO:0030027 9.43 APC CTNNB1
3 bicellular tight junction GO:0005923 9.4 APC CTNNB1
4 cell-cell adherens junction GO:0005913 9.37 APC CTNNB1
5 adherens junction GO:0005912 9.32 APC CTNNB1
6 lateral plasma membrane GO:0016328 9.26 APC CTNNB1
7 catenin complex GO:0016342 9.16 APC CTNNB1
8 beta-catenin destruction complex GO:0030877 8.96 APC CTNNB1
9 Wnt signalosome GO:1990909 8.62 APC CTNNB1

Biological processes related to Familial Adenomatous Polyposis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.37 APC CTNNB1
2 positive regulation of apoptotic process GO:0043065 9.32 APC CTNNB1
3 Wnt signaling pathway GO:0016055 9.26 APC CTNNB1
4 regulation of cell differentiation GO:0045595 9.16 APC CTNNB1
5 beta-catenin destruction complex disassembly GO:1904886 8.96 APC CTNNB1
6 cell fate specification GO:0001708 8.62 APC CTNNB1

Molecular functions related to Familial Adenomatous Polyposis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 8.96 APC CTNNB1
2 cadherin binding GO:0045296 8.62 APC CTNNB1

Sources for Familial Adenomatous Polyposis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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