MCID: FML346
MIFTS: 63

Familial Adenomatous Polyposis 1

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

Aliases & Classifications for Familial Adenomatous Polyposis 1

MalaCards integrated aliases for Familial Adenomatous Polyposis 1:

Name: Familial Adenomatous Polyposis 1 53 28
Gardner Syndrome 53 49 55 28 69
Brain Tumor-Polyposis Syndrome 2 53 28 69
Adenomatous Polyposis Coli 53 13 69
Familial Adenomatous Polyposis 55 71
Gardner's Syndrome 72 49
Fap 55 71
Polyposis Coli and Multiple Hard and Soft Tissue Tumors 49
Apc-Related Attenuated Familial Adenomatous Polyposis 55
Intestinal Polyposis, Osteomas, Sebaceous Cysts 49
Apc-Related Attenuated Familial Polyposis Coli 55
Adenomatous Polyposis of the Colon; Apc 53
Familial Polyposis of the Colon; Fpc 53
Adenomatous Polyposis of the Colon 53
Polyposis, Adenomatous Intestinal 53
Colorectal Adenomatous Polyposis 55
Familial Polyposis of the Colon 53
Turcot Syndrome with Polyposis 55
Apc-Related Attenuated Fap 55
Familial Polyposis Coli 55
Gardners Syndrome 51
Apc-Related Afap 55
Fap1 53
Apc 53
Fpc 53

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Familial Adenomatous Polyposis 1

NIH Rare Diseases : 49 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. Last updated: 1/14/2015

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 multiple lipomas, colon cancer and multiple gastric polyps. An important gene associated with Familial Adenomatous Polyposis 1 is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Gastric cancer and Development HGF signaling pathway. The drugs Erythromycin and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 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 : 71 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 : 72 Gardner syndrome, also known as Gardner\'s syndrome or familial colorectal polyposis, is an autosomal... 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 73)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 32.4 APC CTNNB1
2 mismatch repair cancer syndrome 32.1 APC CTNNB1
3 desmoid tumor 31.2 APC CTNNB1
4 desmoid disease, hereditary 31.0 APC CTNNB1
5 medulloblastoma 30.5 APC CTNNB1
6 adenoma 29.5 APC CTNNB1
7 fibromatosis 29.2 APC CTNNB1
8 hepatoblastoma 29.1 APC CTNNB1
9 lynch syndrome 29.0 APC CTNNB1
10 apc-associated polyposis conditions 12.1
11 samson gardner syndrome 12.0
12 attenuated familial adenomatous polyposis 11.9
13 amyloidosis, hereditary, transthyretin-related 11.8
14 familial adenomatous polyposis 2 11.5
15 mutyh-associated polyposis 11.3
16 melanoma 11.3
17 breast ductal carcinoma 11.2
18 glioma 11.2
19 hemophagocytic lymphohistiocytosis, familial, 5 11.1
20 infiltrative basal cell carcinoma 11.1
21 familial adenomatous polyposis 3 10.9
22 familial adenomatous polyposis 4 10.9
23 familial adenomatous polyposis due to 5q22.2 microdeletion 10.9
24 axin2-related attenuated familial adenomatous polyposis 10.9
25 gastric cancer 10.8
26 pouchitis 10.8
27 polyneuropathy 10.4
28 colorectal cancer 10.1
29 breast cancer 9.9
30 pancreatic ductal adenocarcinoma 9.9
31 chronic interstitial cystitis 9.9
32 polycystic kidney disease 9.9
33 adenocarcinoma 9.9
34 pancreatitis 9.9
35 thyroiditis 9.9
36 duodenitis 9.9
37 amyloidosis 9.9
38 pancreatic cancer 9.8
39 colon adenoma 9.8
40 pineoblastoma 9.8
41 retinitis 9.8
42 neuropathy 9.8
43 hereditary amyloidosis 9.8
44 hepatic adenomas, familial 9.8 APC CTNNB1
45 acinar cell carcinoma 9.8 APC CTNNB1
46 intestinal benign neoplasm 9.8 APC CTNNB1
47 peutz-jeghers syndrome 9.7 APC CTNNB1
48 colonic benign neoplasm 9.7 APC CTNNB1
49 alzheimer disease 9.7
50 amyloidosis, finnish type 9.7

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

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
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

Human phenotypes related to Familial Adenomatous Polyposis 1:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple lipomas 55 31 Occasional (29-5%) HP:0001012
2 colon cancer 55 31 frequent (33%) Frequent (79-30%) HP:0003003
3 multiple gastric polyps 55 31 frequent (33%) Very frequent (99-80%) HP:0004394
4 duodenal polyposis 55 31 very rare (1%) Very frequent (99-80%) HP:0004783
5 adenomatous colonic polyposis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005227
6 odontoma 55 31 Occasional (29-5%) HP:0011068
7 increased number of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0011069
8 carious teeth 31 occasional (7.5%) HP:0000670
9 neoplasm 55 Frequent (79-30%)
10 delayed eruption of teeth 55 Occasional (29-5%)
11 irregular hyperpigmentation 55 Occasional (29-5%)
12 fibroma 55 Occasional (29-5%)
13 neoplasm of the central nervous system 55 Occasional (29-5%)
14 sarcoma 55 Occasional (29-5%)
15 adrenocortical carcinoma 31 HP:0006744
16 adrenocortical adenoma 31 very rare (1%) HP:0008256
17 keloids 31 HP:0010562
18 astrocytoma 31 HP:0009592
19 hepatoblastoma 31 very rare (1%) HP:0002884
20 hyperpigmentation of the skin 31 HP:0000953
21 medulloblastoma 31 very rare (1%) HP:0002885
22 papillary thyroid carcinoma 31 very rare (1%) HP:0002895
23 desmoid tumors 31 very rare (1%) HP:0100245
24 small intestine carcinoid 31 HP:0006722
25 osteoma 31 occasional (7.5%) HP:0100246
26 epidermoid cyst 31 occasional (7.5%) HP:0200040
27 duodenal adenocarcinoma 31 very rare (1%) HP:0006771
28 fibroadenoma of the breast 31 occasional (7.5%) HP:0010619
29 unerupted tooth 31 occasional (7.5%) HP:0000706
30 congenital hypertrophy of retinal pigment epithelium 31 occasional (7.5%) HP:0007649

UMLS symptoms related to Familial Adenomatous Polyposis 1:


diarrhea, abdominal pain

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

25 (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 CTNNB1 APC
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 CTNNB1 APC
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 CTNNB1 APC
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 CTNNB1 APC

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 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2
Celecoxib Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 169590-42-5 2662
3 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Erythromycin Estolate Phase 4
6 Erythromycin Ethylsuccinate Phase 4
7 Erythromycin stearate Phase 4
8 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
9 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
10 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
11 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1
13 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
14 Cyclooxygenase 2 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
15 Cyclooxygenase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
17
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
18
Sulindac Approved, Investigational Phase 3,Phase 2 38194-50-2 1548887 5352
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
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 1
27 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
28
Metformin Approved Phase 2 657-24-9 4091 14219
29
Curcumin Approved, Investigational Phase 2 458-37-7 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 46835353 6436030 5284616
33
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
34
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
35 Hypoglycemic Agents Phase 2
36
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
37 Protein Kinase Inhibitors Phase 2
38 Retinol palmitate Phase 2
39 Turmeric extract 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 retinol Nutraceutical Phase 2
45 Turmeric 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 72)

# 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 Observational Familial Adenomatous Polyposis Registry Study In Patients Receiving Celecoxib Compared to Control Patients Terminated NCT00151476 Phase 4 Celecoxib
5 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3 Ursodeoxycholic acid;Placebo
6 Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA Completed NCT00510692 Phase 2, Phase 3 Eicosapentanoic Acid (EPA);Placebo
7 Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis Completed NCT00808743 Phase 2, Phase 3 Celecoxib;Ursodeoxycholic acid;Placebo
8 Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps Completed NCT00005094 Phase 3 celecoxib
9 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
10 Primary Chemoprevention of Familial Adenomatous Polyposis With Berberine Hydrochloride Recruiting NCT03333265 Phase 2, Phase 3 100mg Berberine hydrochloride;300mg Berberine hydrochloride;Placebo Oral Tablet
11 Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP) Active, not recruiting NCT01483144 Phase 3 Eflornithine plus Sulindac;Eflornithine and Placebo;Sulindac and Placebo
12 Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) Terminated NCT00585312 Phase 3 Celecoxib;Placebo
13 Coxib-inhibition of Duodenal Polyp Growth in FAP Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
14 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
15 A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3 Eflornithine plus Sulindac;Eflornithine plus Placebo;Sulindac plus Placebo
16 Exisulind in Preventing Polyps in Patients With Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
17 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2 metformin
18 Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis Unknown status NCT00319007 Phase 2 Sulindac (drug);VSL#3 (probiotic);Inulin (probiotic)
19 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
20 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2 Curcumin
21 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Recruiting NCT02961374 Phase 2 Erlotinib Hydrochloride
22 Sirolimus and Familial Adenomatous Polyposis (FAP) Recruiting NCT03095703 Phase 2 Sirolimus
23 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
24 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
25 Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis. Not yet recruiting NCT03061591 Phase 2
26 Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous Polyposis Terminated NCT00033371 Phase 2 Celecoxib;eflornithine
27 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis Patients Withdrawn NCT00248053 Phase 2 curcumin
28 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
29 Lyophilized Black Raspberries in Adults With Familial Adenomatous Polyposis (FAP) Completed NCT00770991 Phase 1 Black raspberry (BRB) Slurry;Black Raspberry (BRB) Suppositories;Black Raspberry (BRB) Placebo Slurry
30 Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
31 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 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis (FAP) Unknown status NCT02656134
34 Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard Endoscopy Unknown status NCT00253812
35 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134 Triple therapy for H. pylori infection;Cox-2 inhibitor
36 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Calcumin (Curcumin)
37 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
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
40 Evaluation of Oesogastroduodenoscopy With Vision to 245 ° (Full Spectrum Endoscopy) to View the Main Disc and Accessory Completed NCT02859883
41 Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer Completed NCT03155542
42 Endoscopic Papillectomy for Early Ampullary Tumors: Long-term Results of the First Large Multicenter Prospective Study Completed NCT01764503
43 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953
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
47 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
48 Endoscopic Evaluation of Duodenal Polyposis in Patients With Familial Adenomatous Polyposis (FAP) Recruiting NCT03346980
49 Registry With Information About Colitis Ulcerosa and Familial Adenomatous Polyposis Patients Recruiting NCT01604564
50 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518

Search NIH Clinical Center for Familial Adenomatous Polyposis 1

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Familial Adenomatous Polyposis 1

Genetic tests related to Familial Adenomatous Polyposis 1:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 1 28 APC
2 Gardner Syndrome 28
3 Brain Tumor-Polyposis Syndrome 2 28

Anatomical Context for Familial Adenomatous Polyposis 1

MalaCards organs/tissues related to Familial Adenomatous Polyposis 1:

38
Colon, Thyroid, Skin, Brain, Liver, Pancreas, Adrenal Gland

Publications for Familial Adenomatous Polyposis 1

Articles related to Familial Adenomatous Polyposis 1:

(show top 50) (show all 84)
# Title Authors Year
1
Orthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome. ( 27501963 )
2016
2
Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome. ( 26995577 )
2016
3
Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. ( 28035305 )
2016
4
Ameloblastic carcinoma with features of ghost cell odontogenic carcinoma in a patient with suspected Gardner syndrome. ( 25434693 )
2015
5
Novel mouse model for Gardner syndrome generated by a large-scale N-ethyl-N-nitrosourea mutagenesis program. ( 23551873 )
2013
6
Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30A years. ( 23114473 )
2013
7
Peripheral osteoma bilateral of the mandible without association with Gardner syndrome. ( 22446465 )
2012
8
Successful iterative percutaneous cryoablation of multiple extraabdominal desmoid tumors in a patient with Gardner syndrome. ( 22840810 )
2012
9
Desmoid tumors of the bilateral breasts in a patient without Gardner syndrome: a case report and review of literature. ( 21629058 )
2012
10
Gardner syndrome. ( 23264869 )
2012
11
Refractory ulcerative chronic pouchitis in a patient with Gardner syndrome following restorative proctocolectomy with ileal pouch-anal anastomosis. ( 22149567 )
2011
12
Gardner syndrome: presurgical planning and surgical management of craniomaxillofacial osteomas. ( 21558892 )
2011
13
Multiple nuchal fibromas in a 2-year-old without Gardner syndrome. ( 21950671 )
2011
14
Primary cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome. ( 21216148 )
2011
15
Gardner syndrome complicated with hydronephrosis. A case report. ( 22470715 )
2010
16
Multiple scalp epidermoid cysts in a child with Gardner syndrome. ( 20872138 )
2010
17
Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? ( 20110204 )
2010
18
Gardner syndrome: skin manifestations, differential diagnosis and management. ( 20141232 )
2010
19
The surgical management of oral and maxillofacial manifestations of Gardner syndrome. ( 20594634 )
2010
20
APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case. ( 19617769 )
2009
21
A case report of Gardner syndrome with hereditary widespread osteomatous jaw lesions. ( 19157925 )
2009
22
Gardner syndrome with no clinical family history. ( 19568185 )
2009
23
Images in cardiovascular medicine. Left atrial fibroma in gardner syndrome: real-time 3-dimensional transesophageal echo imaging. ( 19001028 )
2008
24
One of the rarest syndromes in dentistry: gardner syndrome. ( 19212549 )
2008
25
Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. ( 18395919 )
2008
26
General practitioner's radiology case 50. Gardner syndrome. ( 17612387 )
2007
27
Intraosseous pilomatricoma: a possible rare skeletal manifestation of Gardner syndrome. ( 17235575 )
2007
28
Primary cerebellopontine angle craniopharyngioma in a patient with gardner syndrome. Case report and review of the literature. ( 17219843 )
2006
29
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
30
Something not quite right: Gardner syndrome diagnosed by multiple cutaneous lesions and genetic testing. ( 16353862 )
2005
31
Ocular manifestations of familial adenomatous polyposis (Gardner syndrome). ( 15763201 )
2005
32
A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality. ( 15095859 )
2004
33
Oral and maxillofacial pathology case of the month. Osteoma, associated with Gardner syndrome. ( 15787135 )
2004
34
Benign osteoma with Gardner syndrome: review of the literature and report of a case. ( 15111819 )
2004
35
Bilateral ureteral compression by multiple abdominal desmoid tumors in Gardner syndrome: case report and literature review. ( 15533508 )
2004
36
Pilomatricoma-like changes in the epidermoid cysts of Gardner syndrome with an APC gene mutation. ( 15187352 )
2004
37
The concomitant occurrence of multiple epidermal cysts, osteomas and thyroid gland nodules is not diagnostic for Gardner syndrome in the absence of intestinal polyposis: a clinical and genetic report. ( 14616385 )
2003
38
Isolated, giant cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome: case report. ( 12182421 )
2002
39
Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. ( 11342777 )
2001
40
Gardner syndrome. ( 11342787 )
2001
41
Sudden death from hyponatremia and hypokalemia in a woman with Gardner syndrome. ( 11444670 )
2001
42
Gardner syndrome. ( 11712044 )
2001
43
Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome. ( 11145293 )
2000
44
Gastrointestinal case of the day. Gardner syndrome. ( 10194797 )
1999
45
Hepatocellular carcinoma in children associated with Gardner syndrome or familial adenomatous polyposis. ( 9628444 )
1998
46
Diamond-Gardner syndrome: a case report. ( 9496803 )
1998
47
Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome? ( 8747580 )
1995
48
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. ( 7485167 )
1995
49
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. ( 8593545 )
1995
50
Gardner syndrome and desmoid tumors. ( 8266758 )
1993

Variations for Familial Adenomatous Polyposis 1

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

71 (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 349)
# Gene Variation Type Significance SNP ID Assembly Location
1 APC NM_000038.5(APC): c.1917dupA (p.Arg640Thrfs) duplication Likely pathogenic rs397515732 GRCh37 Chromosome 5, 112170821: 112170821
2 APC NM_000038.5(APC): c.3162delC (p.His1054Glnfs) deletion Pathogenic rs397515733 GRCh37 Chromosome 5, 112174453: 112174453
3 APC NM_000038.5(APC): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic rs397515734 GRCh37 Chromosome 5, 112128191: 112128191
4 APC NM_000038.5(APC): c.896_897delCT (p.Ser299Cysfs) deletion Pathogenic rs397515735 GRCh37 Chromosome 5, 112151253: 112151254
5 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh37 Chromosome 5, 112102077: 112102077
6 APC NM_000038.5(APC): c.3183_3187delACAAA (p.Gln1062Terfs) deletion Pathogenic rs587779352 GRCh37 Chromosome 5, 112174474: 112174478
7 APC NM_000038.5(APC): c.3202_3205delTCAA (p.Ser1068Glyfs) deletion Pathogenic rs587779353 GRCh37 Chromosome 5, 112174493: 112174496
8 APC NM_000038.5(APC): c.1659G> A (p.Trp553Ter) single nucleotide variant Pathogenic rs398123116 GRCh37 Chromosome 5, 112164585: 112164585
9 APC NM_000038.5(APC): c.2365C> T (p.Gln789Ter) single nucleotide variant Pathogenic rs398123117 GRCh37 Chromosome 5, 112173656: 112173656
10 APC NM_000038.5(APC): c.2547_2550delTAGA (p.Asp849Glufs) deletion Pathogenic rs398123118 GRCh37 Chromosome 5, 112173838: 112173841
11 APC NM_000038.5(APC): c.2731G> T (p.Glu911Ter) single nucleotide variant Pathogenic rs398123119 GRCh37 Chromosome 5, 112174022: 112174022
12 APC NM_000038.5(APC): c.2805delC (p.Tyr935Terfs) deletion Pathogenic rs398123120 GRCh37 Chromosome 5, 112174096: 112174096
13 APC NM_000038.5(APC): c.3982C> T (p.Gln1328Ter) single nucleotide variant Pathogenic rs398123121 GRCh37 Chromosome 5, 112175273: 112175273
14 APC NM_000038.5(APC): c.4473dupT (p.Ala1492Cysfs) duplication Pathogenic rs398123122 GRCh37 Chromosome 5, 112175764: 112175764
15 APC NM_000038.5(APC): c.1213C> T (p.Arg405Ter) single nucleotide variant Pathogenic rs587779780 GRCh38 Chromosome 5, 112819245: 112819245
16 APC NM_000038.5(APC): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs587779783 GRCh38 Chromosome 5, 112838007: 112838007
17 APC NM_000038.5(APC): c.3088A> T (p.Lys1030Ter) single nucleotide variant Pathogenic rs587779786 GRCh38 Chromosome 5, 112838682: 112838682
18 APC NM_000038.5(APC): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs62619935 GRCh38 Chromosome 5, 112792446: 112792446
19 APC NM_000038.5(APC): c.5934_5937delAAAC (p.Asn1979Thrfs) deletion Pathogenic rs587781330 GRCh38 Chromosome 5, 112841528: 112841531
20 APC NM_000038.5(APC): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs587781392 GRCh38 Chromosome 5, 112780895: 112780895
21 APC NM_000038.5(APC): c.935dupT (p.Glu313Glyfs) duplication Pathogenic/Likely pathogenic rs587781451 GRCh38 Chromosome 5, 112818967: 112818967
22 APC NM_000038.5(APC): c.147_150delACAA (p.Lys49Asnfs) deletion Pathogenic rs587781694 GRCh37 Chromosome 5, 112102034: 112102037
23 APC NM_000038.5(APC): c.220+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs587781809 GRCh37 Chromosome 5, 112102109: 112102109
24 APC NM_000038.5(APC): c.2004delC (p.Leu669Terfs) deletion Pathogenic rs587782303 GRCh37 Chromosome 5, 112173295: 112173295
25 APC NM_000038.5(APC): c.426_427delAT (p.Leu143Alafs) deletion Pathogenic rs587782557 GRCh37 Chromosome 5, 112111329: 112111330
26 APC NM_000038.5(APC): c.3286C> T (p.Gln1096Ter) single nucleotide variant Pathogenic rs587783029 GRCh38 Chromosome 5, 112838880: 112838880
27 APC NM_000038.5(APC): c.2107delG (p.Ala703Glnfs) deletion Pathogenic rs587783030 GRCh38 Chromosome 5, 112837701: 112837701
28 APC NM_000038.5(APC): c.4666delA (p.Thr1556Leufs) deletion Pathogenic rs587783031 GRCh38 Chromosome 5, 112840260: 112840260
29 APC NM_000038.5(APC): c.3814delT (p.Ser1272Glnfs) deletion Pathogenic rs587783033 GRCh38 Chromosome 5, 112839408: 112839408
30 APC NM_000038.5(APC): c.1744-2A> G single nucleotide variant Pathogenic rs587783035 GRCh38 Chromosome 5, 112834949: 112834949
31 APC NM_000038.5(APC): c.4255delA (p.Ser1419Alafs) deletion Likely pathogenic rs727504420 GRCh37 Chromosome 5, 112175546: 112175546
32 APC NC_000005.10: g.(?_112754891)_(112844071_?)del deletion Pathogenic GRCh37 Chromosome 5, 112090588: 112179768
33 APC NM_000038.5(APC): c.477delC (p.Tyr159Terfs) deletion Pathogenic rs730880250 GRCh37 Chromosome 5, 112111380: 112111380
34 APC NM_000038.5(APC): c.288T> A (p.Tyr96Ter) single nucleotide variant Pathogenic rs376213437 GRCh38 Chromosome 5, 112767256: 112767256
35 APC NM_000038.5(APC): c.1312+3_1312+4delAT deletion Pathogenic rs730881228 GRCh38 Chromosome 5, 112819347: 112819348
36 APC NM_000038.5(APC): c.1987C> T (p.Gln663Ter) single nucleotide variant Pathogenic rs730881240 GRCh38 Chromosome 5, 112837581: 112837581
37 APC NM_000038.5(APC): c.5490_5493delTGAA (p.Asn1830Lysfs) deletion Pathogenic rs730881273 GRCh38 Chromosome 5, 112841084: 112841087
38 APC NM_000038.5(APC): c.3149delC (p.Ala1050Glufs) deletion Pathogenic rs730882135 GRCh38 Chromosome 5, 112838743: 112838743
39 APC NM_000038.5(APC): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145945630 GRCh37 Chromosome 5, 112090657: 112090657
40 APC NM_000038.5(APC): c.221-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs786201291 GRCh37 Chromosome 5, 112102884: 112102884
41 APC NM_000038.5(APC): c.847C> T (p.Arg283Ter) single nucleotide variant Pathogenic rs786201856 GRCh37 Chromosome 5, 112151204: 112151204
42 APC NM_000038.5(APC): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs775126020 GRCh37 Chromosome 5, 112154723: 112154723
43 APC NM_000038.5(APC): c.2805C> G (p.Tyr935Ter) single nucleotide variant Pathogenic rs137854575 GRCh37 Chromosome 5, 112174096: 112174096
44 APC NM_000038.5(APC): c.3471_3474delGAGA (p.Glu1157Aspfs) deletion Pathogenic rs786203020 GRCh37 Chromosome 5, 112174762: 112174765
45 APC NM_000038.5(APC): c.3807_3808delAT (p.Ile1269Metfs) deletion Pathogenic rs786203760 GRCh37 Chromosome 5, 112175098: 112175099
46 APC NM_000038.5(APC): c.925G> T (p.Gly309Ter) single nucleotide variant Pathogenic rs786204118 GRCh37 Chromosome 5, 112151282: 112151282
47 APC NM_000038.5(APC): c.1262G> A (p.Trp421Ter) single nucleotide variant Pathogenic rs559510809 GRCh38 Chromosome 5, 112819294: 112819294
48 APC NM_000038.5(APC): c.3830T> G (p.Leu1277Ter) single nucleotide variant Pathogenic rs786204169 GRCh37 Chromosome 5, 112175121: 112175121
49 APC NM_000038.5(APC): c.4175C> A (p.Ser1392Ter) single nucleotide variant Pathogenic rs786204170 GRCh37 Chromosome 5, 112175466: 112175466
50 APC NM_000038.5(APC): c.2563_2564delGA (p.Glu855Thrfs) deletion Pathogenic rs794727160 GRCh37 Chromosome 5, 112173854: 112173855

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
12.14 APC CTNNB1
4
Show member pathways
12.13 APC CTNNB1
5
Show member pathways
12.11 APC CTNNB1
6
Show member pathways
12.06 APC CTNNB1
7 12.02 APC CTNNB1
8 12.02 APC CTNNB1
9
Show member pathways
11.97 APC CTNNB1
10
Show member pathways
11.87 APC CTNNB1
11 11.86 APC CTNNB1
12
Show member pathways
11.82 APC CTNNB1
13 11.8 APC CTNNB1
14 11.75 APC CTNNB1
15 11.71 APC CTNNB1
16 11.69 APC CTNNB1
17 11.67 APC CTNNB1
18 11.6 APC CTNNB1
19 11.56 APC CTNNB1
20
Show member pathways
11.56 APC CTNNB1
21 11.54 APC CTNNB1
22 11.5 APC CTNNB1
23 11.33 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 beta-catenin destruction complex GO:0030877 9.16 APC CTNNB1
8 catenin complex GO:0016342 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 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.16 APC CTNNB1
5 canonical Wnt signaling pathway GO:0060070 8.96 APC CTNNB1
6 beta-catenin destruction complex disassembly GO:1904886 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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