FAP1
MCID: FML346
MIFTS: 70

Familial Adenomatous Polyposis 1 (FAP1)

Categories: Bone diseases, 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 56 12 29 6 15
Gardner Syndrome 56 52 58 29 6 71
Brain Tumor-Polyposis Syndrome 2 56 29 6 71
Adenomatous Polyposis Coli 56 13 71
Familial Adenomatous Polyposis 58 73
Gardner's Syndrome 74 52
Fap 58 73
Polyposis Coli and Multiple Hard and Soft Tissue Tumors 52
Apc-Related Attenuated Familial Adenomatous Polyposis 58
Intestinal Polyposis, Osteomas, Sebaceous Cysts 52
Apc-Related Attenuated Familial Polyposis Coli 58
Adenomatous Polyposis Coli, Susceptibility to 6
Adenomatous Polyposis of the Colon; Apc 56
Adenomatous Polyposis, Familial, Type 1 39
Familial Polyposis of the Colon; Fpc 56
Adenomatous Polyposis of the Colon 56
Polyposis, Adenomatous Intestinal 56
Colorectal Adenomatous Polyposis 58
Familial Polyposis of the Colon 56
Turcot Syndrome with Polyposis 58
Apc-Related Attenuated Fap 58
Familial Polyposis Coli 58
Gardners Syndrome 54
Apc-Related Afap 58
Fap1 56
Apc 56
Fpc 56

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant

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


HPO:

31
familial adenomatous polyposis 1:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Familial Adenomatous Polyposis 1

NIH Rare Diseases : 52 Gardner syndrome is 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 Wnt / Hedgehog / Notch and Wnt Signaling Pathway and Pluripotency. The drugs Erythromycin and Erythromycin Estolate have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and skin, and related phenotypes are brain neoplasm and colon cancer

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

OMIM : 56 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 : 73 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 : 74 Gardner's syndrome, also known as Gardner 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 856)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 33.5 CTNNB1 APC
2 mismatch repair cancer syndrome 32.8 CTNNB1 APC
3 desmoid tumor 32.7 CTNNB1 APC
4 intestinal benign neoplasm 31.9 CTNNB1 APC
5 acinar cell carcinoma 31.8 CTNNB1 APC
6 alveolar soft part sarcoma 31.7 CTNNB1 APC
7 colorectal adenocarcinoma 31.7 CTNNB1 APC
8 desmoid disease, hereditary 31.7 CTNNB1 APC
9 craniopharyngioma 31.5 CTNNB1 APC
10 infratentorial cancer 31.4 CTNNB1 APC
11 barrett esophagus 31.4 CTNNB1 APC
12 connective tissue benign neoplasm 31.3 CTNNB1 APC
13 colonic benign neoplasm 31.3 CTNNB1 APC
14 gastrointestinal system benign neoplasm 31.2 CTNNB1 APC
15 cell type benign neoplasm 31.0 CTNNB1 APC
16 colorectal adenoma 30.5 CTNNB1 APC
17 fibromatosis 30.0 CTNNB1 APC
18 intrahepatic cholangiocarcinoma 29.9 CTNNB1 APC
19 cholangiocarcinoma 29.8 CTNNB1 APC
20 peutz-jeghers syndrome 29.8 CTNNB1 APC
21 hepatoblastoma 29.7 CTNNB1 APC
22 amyloidosis, hereditary, transthyretin-related 12.3
23 samson gardner syndrome 12.3
24 attenuated familial adenomatous polyposis 12.2
25 thrombophilia due to activated protein c resistance 12.2
26 inherited cancer-predisposing syndrome 12.1
27 familial adenomatous polyposis 2 12.0
28 ovarian cancer 11.8
29 glioma 11.8
30 factor v leiden thrombophilia 11.7
31 lung cancer 11.7
32 medulloblastoma 11.6
33 myh-associated polyposis 11.6
34 prostate cancer 11.6
35 endometrial cancer 11.6
36 melanoma 11.6
37 colorectal cancer 11.5
38 graft-versus-host disease 11.5
39 familial adenomatous polyposis 3 11.5
40 familial adenomatous polyposis 4 11.5
41 colon adenocarcinoma 11.5
42 cervical cancer 11.5
43 gastric cancer 11.5
44 brain cancer 11.5
45 pouchitis 11.5
46 thyroid cancer, nonmedullary, 2 11.4
47 thyroid cancer, nonmedullary, 3 11.4
48 breast ductal carcinoma 11.4
49 large intestine cancer 11.4
50 lung cancer susceptibility 3 11.4

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:

58 31 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain neoplasm 58 31 very rare (1%) Very rare (<4-1%),Obligate (100%) HP:0030692
2 colon cancer 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Very frequent (99-80%) HP:0003003
3 multiple gastric polyps 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0004394
4 adenomatous colonic polyposis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0005227
5 hyperpigmentation of the fundus 58 31 hallmark (90%) Very frequent (99-80%) HP:0011512
6 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
7 duodenal polyposis 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0004783
8 lipoma 58 31 very rare (1%) Very rare (<4-1%),Frequent (79-30%) HP:0012032
9 epidermoid cyst 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%),Frequent (79-30%) HP:0200040
10 congenital hypertrophy of retinal pigment epithelium 58 31 occasional (7.5%) Very rare (<4-1%),Frequent (79-30%) HP:0007649
11 thyroid nodule 58 31 very rare (1%) Very rare (<4-1%),Frequent (79-30%) HP:0025388
12 cerebellar medulloblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0007129
13 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
14 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
15 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
16 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
17 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
18 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
19 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%),Occasional (29-5%) HP:0011069
20 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
21 adrenocortical adenoma 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0008256
22 hematochezia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002573
23 keloids 58 31 occasional (7.5%) Occasional (29-5%) HP:0010562
24 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
25 desmoid tumors 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%),Very rare (<4-1%) HP:0100245
26 multiple unerupted teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006283
27 papillary thyroid carcinoma 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%),Occasional (29-5%) HP:0002895
28 fibroadenoma of the breast 58 31 occasional (7.5%) Very rare (<4-1%) HP:0010619
29 osteoma 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%) HP:0100246
30 alternating esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001137
31 spinal cord compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002176
32 soft tissue neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0031459
33 melena 58 31 occasional (7.5%) Occasional (29-5%) HP:0002249
34 carious teeth 31 occasional (7.5%) HP:0000670
35 unerupted tooth 31 occasional (7.5%) HP:0000706
36 ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0001251
37 intellectual disability, moderate 58 31 very rare (1%) Very rare (<4-1%) HP:0002342
38 odontoma 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%),Very rare (<4-1%) HP:0011068
39 leukemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001909
40 lymphoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002665
41 adrenocortical carcinoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0006744
42 pituitary adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002893
43 papilledema 58 31 very rare (1%) Very rare (<4-1%) HP:0001085
44 breast carcinoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0003002
45 astrocytoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%),Very rare (<4-1%) HP:0009592
46 neoplasm of the pancreas 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002894
47 gastrointestinal carcinoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002672
48 hepatoblastoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002884
49 basal cell carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002671
50 medulloblastoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%),Very frequent (99-80%) HP:0002885

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.62 CTNNB1 HHEX

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 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560 441411
2 Erythromycin Estolate Phase 4
3 Erythromycin stearate Phase 4
4 Erythromycin Ethylsuccinate Phase 4
5 Cyclooxygenase 2 Inhibitors Phase 4
6
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
7
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
8
Loperamide Approved Phase 3 53179-11-6 3955
9 Cholagogues and Choleretics Phase 2, Phase 3
10 Omega 3 Fatty Acid Phase 3
11 Gastrointestinal Agents Phase 3
12 Antidiarrheals Phase 3
13
Metformin Approved Phase 2 657-24-9 4091 14219
14
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
15
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
16
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
17
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
18
Turmeric Approved, Experimental, Investigational Phase 2
19
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
20
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
21
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
22 Retinol palmitate Phase 2
23 retinol Phase 2
24 Hypoglycemic Agents Phase 2
25 Topoisomerase Inhibitors Phase 2
26
Liposomal doxorubicin Phase 2 31703
27 Immunologic Factors Phase 1, Phase 2
28 Anti-Infective Agents Phase 1, Phase 2
29
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
30 Protein Kinase Inhibitors Phase 2
31 Antibiotics, Antitubercular Phase 1, Phase 2
32 Antifungal Agents Phase 1, Phase 2
33 Immunosuppressive Agents Phase 1, Phase 2
34 Anti-Bacterial Agents Phase 1, Phase 2
35 Turmeric extract Phase 2
36 Antineoplastic Agents, Immunological Phase 2
37 Antioxidants Phase 2
38 Raspberry Approved Phase 1
39
Bevacizumab Approved, Investigational Phase 1 216974-75-3
40
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
41
Triamcinolone Approved, Vet_approved Phase 1 124-94-7 31307
42 Angiogenesis Inhibitors Phase 1
43 Mitogens Phase 1
44 Endothelial Growth Factors Phase 1
45 Platelet Aggregation Inhibitors Phase 1
46 Fibrinolytic Agents Phase 1
47 Antipyretics Phase 1
48 Hormone Antagonists Phase 1
49 Hormones Phase 1
50 glucocorticoids Phase 1

Interventional clinical trials:

(show top 50) (show all 94)
# Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-protocol is Identical to Study No. 0519-10-TLV- Minors' Adjusted Version Unknown status NCT02354560 Phase 4 Erythromycin
2 Erythromycin as a Novel Therapy Against Familial Adenomatous Polyposis and Sporadic Colorectal Cancer by APC Nonsense Mutation Readthrough. Unknown status NCT02175914 Phase 4 Erythromycin
3 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Rofecoxib in Familial Adenomatous Polyposis (FAP) Terminated NCT00140894 Phase 4 MK0966; rofecoxib / Duration of Treatment: 24 weeks;Comparator: placebo / Duration of Treatment: 24 weeks
4 Efficiency of Ursodesoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis Patients. URSOPAF Unknown status NCT00134758 Phase 2, Phase 3 Ursodeoxycholic acid;Placebo
5 Prevention of Progression of Duodenal Adenomas to Cancer in Patients With Familial Adenomatous Polyposis (FAP) Completed NCT00808743 Phase 2, Phase 3 Celecoxib;Ursodeoxycholic acid;Placebo
6 A Two-Arm Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Patients Using the Purified Free Fatty Acid, Eicosapentaenoic Acid Completed NCT00510692 Phase 2, Phase 3 Eicosapentanoic Acid (EPA);Placebo
7 Prevention of Sporadic Colorectal Adenomas With Celecoxib Completed NCT00005094 Phase 3 celecoxib
8 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
9 The Effect of Berberine Hydrochloride in Familial Adenomatous Polyposis:a Prospective, Randomized, Double Blind, Placebo-controlled, Multicenter Clinical Trial Recruiting NCT03333265 Phase 2, Phase 3 100mg Berberine hydrochloride;300mg Berberine hydrochloride;Placebo Oral Tablet
10 Randomised, Double-blind, Placebo-controlled Study of the Efficacy, Safety and Tolerability of EPA-FFA Gastro-resistant Capsules, in Patients With Familial Adenomatous Polyposis (FAP) Recruiting NCT03806426 Phase 3 Eicosapentaenoic acid free fatty acid (EPA-FFA);Placebo
11 Phase III Trial of the Safety and Efficacy of Eflornithine Combined With Sulindac Compared to Eflornithine, Sulindac as Single Agents in Patients With Familial Adenomatous Polyposis Active, not recruiting NCT01483144 Phase 3 Eflornithine plus Sulindac;Eflornithine and Placebo;Sulindac and Placebo
12 A Phase III Placebo-Controlled Trial Of Celecoxib In Genotype Positive Subjects With Familial Adenomatous Polyposis Terminated NCT00585312 Phase 3 Celecoxib;Placebo
13 Coxib-inhibition of Duodenal Polyp Growth in Familial Adenomatous Polyposis Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
14 Prospective Randomized Control Study on Effect of Post Operative Loperamide in Decreasing Readmission for Dehydration in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
15 A Randomized Phase III 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 Chemoprevention of Duodenal Polyps in Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
17 Adenoma-Carcinoma Sequence in the Ileal Pouch Anal Anastomosis in Patients With Familial Adenomatous Polyposis: Studies on Luminal and Mucosal Risk Factors and Chemoprevention Unknown status NCT00319007 Phase 2 Sulindac (drug);VSL#3 (probiotic);Inulin (probiotic)
18 Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00641147 Phase 2 Curcumin
19 Genetic Events Leading to APC-Dependent Colon Cancer in High-Risk Families; a Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
20 Sirolimus for the Treatment of Severe Intestinal Polyposis in Patients With Familial Adenomatous Polyposis (FAP): a Pilot Study Completed NCT03095703 Phase 2 Sirolimus
21 Celecoxib In Biomarker Modulation Of Oral Precancerous Lesions: A Pilot Study Completed NCT00052611 Phase 2 Celecoxib
22 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Recruiting NCT01725490 Phase 2 Metformin;Metformin;Placebo
23 Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis Recruiting NCT03966742 Phase 2
24 Phase II Trial of Weekly Erlotinib Dosing to Reduce Duodenal Polyp Burden Associated With Familial Adenomatous Polyposis Active, not recruiting NCT02961374 Phase 2 Erlotinib;Erlotinib Hydrochloride
25 Molecular Targeting of 15-LOX-1 for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
26 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Active, not recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
27 Efficacy of Wholistic Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis A Randomized, Double Blinded, Placebo Controlled Study Not yet recruiting NCT03061591 Phase 2
28 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
29 A Two-Arm Phase II Chemoprevention Trial in Adenomatous Polyposis Coli Patients Terminated NCT00033371 Phase 2 Celecoxib;eflornithine
30 A Pilot Phase II Trial of Celecoxib in Patients With Grade 2 or 3 Endometrioid-type, Clear Cell, and Papillary Serous Uterine Cancers Terminated NCT00231829 Phase 2 Celecoxib
31 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis (FAP) Patients Withdrawn NCT00248053 Phase 2 curcumin
32 A Pilot Study To Investigate the Biological Modulation of Familial Adenomatous Polyposis (FAP) by Lyophilized Black Raspberries Completed NCT00770991 Phase 1 Black raspberry (BRB) Slurry;Black Raspberry (BRB) Suppositories;Black Raspberry (BRB) Placebo Slurry
33 Visualization of a VEGF-targeted Near-Infrared Fluorescent Tracer in Patients With Familial Adenomatous Polyposis During Fluorescence Endoscopy A Single Center Pilot Intervention Study Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
34 Phase I Pilot Toxicity/Methods Validation Study of Celecoxib in Genotype-Positive Children With Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
35 A Pilot, Open-Label, Randomized, Crossover, Pharmacokinetic Study Of Enhanced Bioavailability Formulations Of Celecoxib In Healthy Volunteers Completed NCT00813241 Phase 1 celecoxib reference formulation;celecoxib test formulation A1;celecoxib test formulation B2;celecoxib test formulation C1
36 Study of Biochemical Markers to Determine the Acetylsalicylic Acid Chemopreventive Effect Through Antiplatelet Action Completed NCT02060396 Phase 1 Acetylsalicylic acid
37 A Phase 1b, Multicenter, Randomized, Blinded, Placebo-controlled Study to Evaluate the Efficacy of Guselkumab in Subjects With Familial Adenomatous Polyposis Recruiting NCT03649971 Phase 1 Guselkumab;Placebo
38 A Pilot Study of Intralesional Injection of Triamcinolone Acetonide for Desmoid Tumors Recruiting NCT03627741 Phase 1 Triamcinolone Acetonide
39 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis: A Prospective Clinical, Immunopathologic and Molecular Analysis Unknown status NCT02656134
40 Adenoma Detection Rate in Rectal Remnants of Familial Polyposis (FAP) Patients Using Standard (White Light), Auto-Fluorescence (AFI), Narrow Band Imaging (NBI) and Chromoscopic Endoscopy Unknown status NCT00253812
41 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
42 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Triple therapy for H. pylori infection;Cox-2 inhibitor
43 Telomeric Abnormalities in Benign and Malignant Colorectal Diseases by Fluorescent in Situ Hybridization Technique Unknown status NCT03208777
44 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. Unknown status NCT00154960
45 The 'SILVERMAN1' Trial Single Incision Laparoscopic Versus Existing Resection (Minimal Access) for Neoplasia Unknown status NCT01319890
46 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
47 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092
48 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Calcumin (Curcumin)
49 In Modern Era, Recurrent Desmoids Determine Outcome in Patients With Gardner Syndrome: A Cohort Study of Three Generations of an Adenomatous Polyposis Coli (APC-) Mutation-Positive Family Across 30 Years Completed NCT01286662
50 Endoscopic Papillectomy for Ampullary Adenomas: an Italian Single Centre Experience Completed NCT03494543

Search NIH Clinical Center for Familial Adenomatous Polyposis 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


celecoxib

Genetic Tests for Familial Adenomatous Polyposis 1

Genetic tests related to Familial Adenomatous Polyposis 1:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 1 29 APC
2 Gardner Syndrome 29
3 Brain Tumor-Polyposis Syndrome 2 29

Anatomical Context for Familial Adenomatous Polyposis 1

MalaCards organs/tissues related to Familial Adenomatous Polyposis 1:

40
Colon, Thyroid, Skin, Pancreas, Brain, Bone, Liver

Publications for Familial Adenomatous Polyposis 1

Articles related to Familial Adenomatous Polyposis 1:

(show top 50) (show all 539)
# Title Authors PMID Year
1
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. 6 56 54 61
7485167 1995
2
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. 56 6
27087319 2016
3
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. 56 6
21813476 2012
4
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 56 6
20685668 2010
5
Case records of the Massachusetts General Hospital. Case 37-2006. A 19-year-old woman with thyroid cancer and lower gastrointestinal bleeding. 6 56
17135589 2006
6
An unusually severe phenotype for familial adenomatous polyposis. 56 6
9487968 1997
7
APC mutations in familial adenomatous polyposis families in the Northwest of England. 6 56
9375853 1997
8
Desmoid tumors: genotype-phenotype differences in familial adenomatous polyposis--a nosological dilemma. 56 6
8940262 1996
9
Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP). 6 56
8281160 1993
10
Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. 6 56
1324223 1992
11
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. 56 6
1651563 1991
12
Multiple polyposis coli associated with Gardner's syndrome and chromosomal mosaicism: a family analysis. 56 6
2164769 1990
13
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 6 61
24310308 2014
14
[Association of Gardner syndrome and thyroid carcinoma]. 56 61
7899423 1995
15
Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. 56 61
1776638 1991
16
Molecular nature of chromosome 5q loss in colorectal tumors and desmoids from patients with familial adenomatous polyposis. 61 56
2172153 1990
17
Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. 61 56
2903664 1988
18
Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis. 61 56
2852900 1988
19
Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. 56 61
3354603 1988
20
A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium. 61 56
3422541 1988
21
Gardner syndrome and interstitial chromosome deletion. 61 56
2827476 1987
22
Gardner syndrome in a man with an interstitial deletion of 5q. 56 61
3789010 1986
23
The Gardner syndrome. Significance of ocular features. 61 56
6493700 1984
24
Failure to demonstrate a chromosome 2 deletion in adenomatous colorectal polyposis patients. 61 56
6690013 1984
25
Multiclonal origin of polyps in Gardner syndrome. 56 61
6879192 1983
26
Inherited susceptibility to retrovirus-induced transformation of Gardner syndrome cells. 56 61
6310993 1983
27
Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome. 61 56
6805315 1982
28
Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum. 61 56
7059954 1982
29
Hereditary polyposis coli. III. Genetic and evolutionary fitness. 56 61
7424910 1980
30
Gardner syndrome and periampullary malignancy. 61 56
6999900 1980
31
The Gardner syndrome: a cell culture study on kindred 109. 61 56
739523 1978
32
Penetrance and expressivity of the gene responsible for the Gardner syndrome. 56 61
880737 1977
33
The Gardner syndrome: increased tetraploidy in cultured skin fibroblast. 61 56
1271427 1976
34
The gardner syndrome. A study in cell culture. 61 56
1212649 1975
35
Adenocarcinoma of the duodenum and the Gardner syndrome. 56 61
4739325 1973
36
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. 6
27854360 2017
37
APC promoter 1B deletion in seven American families with familial adenomatous polyposis. 56
25243319 2015
38
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 6
25645574 2015
39
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. 6
25452455 2015
40
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
41
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
42
APC promoter 1B deletion in familial polyposis--implications for mutation-negative families. 56
23725351 2014
43
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
44
Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). 6
21368914 2011
45
A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred. 56
18982352 2008
46
Guidelines for the clinical management of familial adenomatous polyposis (FAP). 6
18194984 2008
47
The genetics of hereditary colon cancer. 56
17938238 2007
48
Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands. 6
15771908 2005
49
Cribriform-morular variant of papillary thyroid carcinoma: clue to early detection of familial adenomatous polyposis-associated colon cancer. 56
15593462 2004
50
Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred. 56
14735163 2004

Variations for Familial Adenomatous Polyposis 1

ClinVar genetic disease variations for Familial Adenomatous Polyposis 1:

6 (show top 50) (show all 3186) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APC NM_000038.6(APC):c.904C>T (p.Arg302Ter)SNV Pathogenic 798 rs137854568 5:112151261-112151261 5:112815564-112815564
2 APC NM_000038.6(APC):c.839C>G (p.Ser280Ter)SNV Pathogenic 799 rs137854569 5:112151196-112151196 5:112815499-112815499
3 APC NM_000038.6(APC):c.2138C>G (p.Ser713Ter)SNV Pathogenic 800 rs137854570 5:112173429-112173429 5:112837732-112837732
4 APC NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)SNV Pathogenic 801 rs121913327 5:112175303-112175303 5:112839606-112839606
5 APC NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)SNV Pathogenic 803 rs137854571 5:112174490-112174490 5:112838793-112838793
6 APC NM_000038.6(APC):c.505_508ATAG[1] (p.Asp170fs)short repeat Pathogenic 804 rs387906231 5:112111412-112111415 5:112775715-112775718
7 APC NM_000038.6(APC):c.1069dup (p.Ile357fs)duplication Pathogenic 805 rs387906232 5:112154798-112154798 5:112819101-112819101
8 APC NM_000038.6(APC):c.1621C>T (p.Gln541Ter)SNV Pathogenic 806 rs137854572 5:112163698-112163698 5:112828001-112828001
9 APC NM_000038.6(APC):c.1660C>T (p.Arg554Ter)SNV Pathogenic 807 rs137854573 5:112164586-112164586 5:112828889-112828889
10 APC NM_000038.6(APC):c.1690C>T (p.Arg564Ter)SNV Pathogenic 808 rs137854574 5:112164616-112164616 5:112828919-112828919
11 APC NM_000038.6(APC):c.1885_1886insA (p.Leu629fs)insertion Pathogenic 809 rs387906233 5:112170789-112170790 5:112835092-112835093
12 APC NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)SNV Pathogenic 810 rs137854575 5:112174096-112174096 5:112838399-112838399
13 APC NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs)short repeat Pathogenic 811 rs387906234 5:112175684-112175685 5:112839987-112839988
14 APC NM_000038.6(APC):c.4385_4386AG[3] (p.Glu1464fs)short repeat Pathogenic 812 rs387906234 5:112175682-112175685 5:112839985-112839988
15 APC NM_000038.6(APC):c.470G>A (p.Trp157Ter)SNV Pathogenic 813 rs137854576 5:112111373-112111373 5:112775676-112775676
16 APC NM_000038.6(APC):c.643C>T (p.Gln215Ter)SNV Pathogenic 814 rs137854577 5:112116598-112116598 5:112780901-112780901
17 APC nsv513782deletion Pathogenic 815 5:112172610-112244011 5:112836913-112908314
18 APC NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs)short repeat Pathogenic 816 rs121913224 5:112175218-112175222 5:112839521-112839525
19 APC NM_000038.6(APC):c.5942del (p.Asn1981fs)deletion Pathogenic 820 rs397509433 5:112177233-112177233 5:112841536-112841536
20 APC NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer)deletion Pathogenic 821 rs587776520 5:112176873-112176876 5:112841176-112841179
21 APC APC deletiondeletion Pathogenic 834 5:112043201-112181937 5:112707504-112846240
22 APC NM_000038.5(APC):c.730_731delAG (p.Arg244Valfs)short repeat Pathogenic 793 rs387906228 5:112136976-112136977 5:112801279-112801280
23 APC NM_000038.6(APC):c.1369del (p.Ser457fs)deletion Pathogenic 795 rs387906229 5:112157649-112157649 5:112821952-112821952
24 APC NM_000038.6(APC):c.1500T>G (p.Tyr500Ter)SNV Pathogenic 796 rs387906230 5:112162896-112162896 5:112827199-112827199
25 APC NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)deletion Pathogenic 823 rs387906236 5:112175902-112175903 5:112840205-112840206
26 APC NM_000038.6(APC):c.1495C>T (p.Arg499Ter)SNV Pathogenic 824 rs137854580 5:112162891-112162891 5:112827194-112827194
27 APC NM_000038.6(APC):c.1458T>G (p.Tyr486Ter)SNV Pathogenic 825 5:112162854-112162854 5:112827157-112827157
28 APC NM_000038.6(APC):c.1311_1312+1deldeletion Pathogenic 826 rs397514030 5:112155040-112155042 5:112819343-112819345
29 APC NM_000038.6(APC):c.1192_1193del (p.Lys398fs)deletion Pathogenic 828 rs387906238 5:112154921-112154922 5:112819224-112819225
30 APC NM_000038.6(APC):c.2093T>A (p.Leu698Ter)SNV Pathogenic 832 rs137854582 5:112173384-112173384 5:112837687-112837687
31 APC NM_000038.6(APC):c.423-1G>ASNV Pathogenic 835 rs397514031 5:112111325-112111325 5:112775628-112775628
32 APC NM_000038.6(APC):c.1059_1060insAAGGATGATAT (p.Pro354fs)insertion Pathogenic 836 rs1554079996 5:112154788-112154789 5:112819091-112819092
33 APC NM_000038.6(APC):c.622C>T (p.Gln208Ter)SNV Pathogenic 839 rs137854583 5:112116577-112116577 5:112780880-112780880
34 APC NG_008481.4:g.(?_150033)_(158719_?)deldeletion Pathogenic 841 5:112173250-112181936 5:112837553-112846239
35 APC APC, 5-BP DEL, NT3221deletion Pathogenic 842
36 APC NM_000038.6(APC):c.3162del (p.His1054fs)deletion Pathogenic 42241 rs397515733 5:112174453-112174453 5:112838756-112838756
37 APC NM_000038.6(APC):c.894_895CT[1] (p.Ser299fs)short repeat Pathogenic 42251 rs397515735 5:112151253-112151254 5:112815556-112815557
38 APC NM_000038.6(APC):c.694C>T (p.Arg232Ter)SNV Pathogenic 42248 rs397515734 5:112128191-112128191 5:112792494-112792494
39 APC NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)deletion Pathogenic 88913 rs587779352 5:112174474-112174478 5:112838777-112838781
40 APC NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)deletion Pathogenic 88914 rs587779353 5:112174493-112174496 5:112838796-112838799
41 APC NM_000038.6(APC):c.2365C>T (p.Gln789Ter)SNV Pathogenic 92341 rs398123117 5:112173656-112173656 5:112837959-112837959
42 APC NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)SNV Pathogenic 92346 rs398123121 5:112175273-112175273 5:112839576-112839576
43 APC NM_000038.6(APC):c.4473dup (p.Ala1492fs)duplication Pathogenic 92347 rs398123122 5:112175764-112175764 5:112840067-112840067
44 APC NM_000038.6(APC):c.1213C>T (p.Arg405Ter)SNV Pathogenic 127275 rs587779780 5:112154942-112154942 5:112819245-112819245
45 APC NM_000038.6(APC):c.2413C>T (p.Arg805Ter)SNV Pathogenic 127281 rs587779783 5:112173704-112173704 5:112838007-112838007
46 APC NM_000038.6(APC):c.3088A>T (p.Lys1030Ter)SNV Pathogenic 127284 rs587779786 5:112174379-112174379 5:112838682-112838682
47 APC NM_000038.6(APC):c.6383del (p.Ala2128fs)deletion Pathogenic 127311 rs587779803 5:112177674-112177674 5:112841977-112841977
48 APC NM_000038.6(APC):c.646C>T (p.Arg216Ter)SNV Pathogenic 127312 rs62619935 5:112128143-112128143 5:112792446-112792446
49 APC NM_000038.6(APC):c.5936_5939del (p.Asn1979fs)deletion Pathogenic 140863 rs587781330 5:112177225-112177228 5:112841528-112841531
50 APC NM_000038.6(APC):c.637C>T (p.Arg213Ter)SNV Pathogenic 140952 rs587781392 5:112116592-112116592 5:112780895-112780895

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

73 (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

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 COSM112254813 large intestine,rectum,other,dysplasia c.991C>T p.Q331* 17:7673537-7673537 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 21)
# Super pathways Score Top Affiliating Genes
1 11.86 CTNNB1 APC
2
Show member pathways
11.84 CTNNB1 APC
3
Show member pathways
11.81 HHEX CTNNB1 APC
4 11.8 CTNNB1 APC
5 11.76 CTNNB1 APC
6 11.72 CTNNB1 APC
7 11.7 CTNNB1 APC
8 11.68 CTNNB1 APC
9 11.61 CTNNB1 APC
10 11.57 CTNNB1 APC
11
Show member pathways
11.57 CTNNB1 APC
12 11.56 CTNNB1 APC
13 11.52 CTNNB1 APC
14 11.35 CTNNB1 APC
15 11.27 CTNNB1 APC
16 11.13 CTNNB1 APC
17 11.03 CTNNB1 APC
18 10.96 CTNNB1 APC
19 10.73 CTNNB1 APC
20 10.34 CTNNB1 APC
21 9.88 CTNNB1 APC

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 lamellipodium GO:0030027 9.46 CTNNB1 APC
2 bicellular tight junction GO:0005923 9.43 CTNNB1 APC
3 cell-cell adherens junction GO:0005913 9.4 CTNNB1 APC
4 adherens junction GO:0005912 9.37 CTNNB1 APC
5 lateral plasma membrane GO:0016328 9.32 CTNNB1 APC
6 protein-DNA complex GO:0032993 9.26 HHEX CTNNB1
7 catenin complex GO:0016342 9.16 CTNNB1 APC
8 beta-catenin destruction complex GO:0030877 8.96 CTNNB1 APC
9 Wnt signalosome GO:1990909 8.62 CTNNB1 APC

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 angiogenesis GO:0016525 9.37 HHEX CTNNB1
2 regulation of cell differentiation GO:0045595 9.32 CTNNB1 APC
3 cell fate specification GO:0001708 9.26 CTNNB1 APC
4 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.16 HHEX APC
5 beta-catenin destruction complex disassembly GO:1904886 8.96 CTNNB1 APC
6 Wnt signaling pathway GO:0016055 8.8 HHEX CTNNB1 APC

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

# Name GO ID Score Top Affiliating Genes
1 repressing transcription factor binding GO:0070491 8.62 HHEX CTNNB1

Sources for Familial Adenomatous Polyposis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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