FAP1
MCID: FML346
MIFTS: 65

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 57 12 72 29 6 15
Gardner Syndrome 57 20 58 29 6 70
Brain Tumor-Polyposis Syndrome 2 57 29 6 70
Adenomatous Polyposis Coli 57 13 6 70
Gardner's Syndrome 73 20
Fap1 57 72
Polyposis Coli and Multiple Hard and Soft Tissue Tumors 20
Apc-Related Attenuated Familial Adenomatous Polyposis 58
Intestinal Polyposis, Osteomas, Sebaceous Cysts 20
Apc-Related Attenuated Familial Polyposis Coli 58
Adenomatous Polyposis Coli, Susceptibility to 6
Adenomatous Polyposis of the Colon; Apc 57
Adenomatous Polyposis, Familial, Type 1 39
Familial Polyposis of the Colon; Fpc 57
Adenomatous Polyposis of the Colon 57
Polyposis, Adenomatous Intestinal 57
Colorectal Adenomatous Polyposis 58
Familial Polyposis of the Colon 57
Adenoma, Periampullary, Somatic 57
Familial Adenomatous Polyposis 58
Turcot Syndrome with Polyposis 58
Apc-Related Attenuated Fap 58
Familial Polyposis Coli 58
Gardners Syndrome 54
Apc-Related Afap 58
Fap 58
Apc 57
Fpc 57

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®:

57 (Updated 05-Apr-2021)
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

GARD : 20 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 generalized epilepsy with febrile seizures plus and disease of mental health, 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). The drugs Erythromycin and Azithromycin have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and eye, 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Familial adenomatous polyposis 1: 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.

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 871)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus 30.1 PRRT2 ADGRV1
2 disease of mental health 29.3 PRRT2 MYBPC3 FOXG1 AVPR2 APC AHI1
3 polycystic kidney disease 4 with or without polycystic liver disease 29.3 AVPR2 AHI1
4 familial adenomatous polyposis 11.7
5 amyloidosis, hereditary, transthyretin-related 11.6
6 colorectal cancer 11.5
7 thrombophilia due to activated protein c resistance 11.4
8 attenuated familial adenomatous polyposis 11.4
9 melanoma 11.3
10 familial adenomatous polyposis 2 11.3
11 desmoid tumor 11.3
12 samson gardner syndrome 11.2
13 thyroid cancer, nonmedullary, 2 11.2
14 thyroid cancer, nonmedullary, 3 11.2
15 glioma 11.2
16 breast ductal carcinoma 11.1
17 endometrial cancer 11.1
18 factor v leiden thrombophilia 11.1
19 prostate cancer 11.1
20 bile duct cancer 11.1
21 myh-associated polyposis 11.1
22 mismatch repair cancer syndrome 1 11.0
23 barrett esophagus 11.0
24 medulloblastoma 11.0
25 asthma 11.0
26 brain cancer 11.0
27 liver cirrhosis 11.0
28 mccune-albright syndrome 11.0
29 colorectal adenocarcinoma 10.9
30 intestinal benign neoplasm 10.9
31 gastrointestinal system disease 10.9
32 leukemia, chronic lymphocytic 10.9
33 parathyroid carcinoma 10.9
34 leukemia, acute lymphoblastic 10.9
35 deficiency anemia 10.9
36 autism spectrum disorder 10.9
37 craniopharyngioma 10.9
38 colonic disease 10.9
39 gastric cancer 10.9
40 infiltrative basal cell carcinoma 10.9
41 familial adenomatous polyposis 3 10.9
42 familial adenomatous polyposis 4 10.9
43 familial adenomatous polyposis due to 5q22.2 microdeletion 10.9
44 axin2-related attenuated familial adenomatous polyposis 10.9
45 lymphoma, non-hodgkin, familial 10.9
46 cowden syndrome 10.9
47 pouchitis 10.9
48 desmoid disease, hereditary 10.9
49 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.9
50 uterine anomalies 10.9

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%),Very frequent (99-80%),Frequent (79-30%) 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%) Frequent (79-30%),Very rare (<4-1%) HP:0012032
9 epidermoid cyst 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%),Frequent (79-30%) HP:0200040
10 cerebellar medulloblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0007129
11 congenital hypertrophy of retinal pigment epithelium 58 31 occasional (7.5%) Frequent (79-30%),Very rare (<4-1%) HP:0007649
12 thyroid nodule 58 31 very rare (1%) Frequent (79-30%),Very rare (<4-1%) HP:0025388
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 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
16 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
17 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Very rare (<4-1%) HP:0011069
18 hematochezia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002573
19 keloids 58 31 occasional (7.5%) Occasional (29-5%) HP:0010562
20 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
21 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
22 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
23 multiple unerupted teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006283
24 alternating esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001137
25 spinal cord compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002176
26 desmoid tumors 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%),Very rare (<4-1%) HP:0100245
27 fibroadenoma of the breast 58 31 occasional (7.5%) Very rare (<4-1%) HP:0010619
28 adrenocortical adenoma 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%) HP:0008256
29 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
30 papillary thyroid carcinoma 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%),Occasional (29-5%) HP:0002895
31 melena 58 31 occasional (7.5%) Occasional (29-5%) HP:0002249
32 osteoma 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0100246
33 soft tissue neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0031459
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 odontoma 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%),Very rare (<4-1%) HP:0011068
38 leukemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001909
39 lymphoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002665
40 intellectual disability, moderate 58 31 very rare (1%) Very rare (<4-1%) HP:0002342
41 astrocytoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%),Very rare (<4-1%) HP:0009592
42 gastrointestinal carcinoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002672
43 breast carcinoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0003002
44 hepatoblastoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002884
45 adrenocortical carcinoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0006744
46 basal cell carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002671
47 neoplasm of the pancreas 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0002894
48 medulloblastoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%),Very frequent (99-80%) HP:0002885
49 papilledema 58 31 very rare (1%) Very rare (<4-1%) HP:0001085
50 esophageal carcinoma 58 31 very rare (1%) Very rare (<4-1%),Very rare (<4-1%) HP:0011459

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
multiple gastric polyps
multiple colonic adenomatous polyps
multiple duodenal polyps
mesenteric fibromatosis

Neoplasia:
astrocytoma
hepatoblastoma
fibrosarcoma
medulloblastoma
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 (Updated 05-Apr-2021)

UMLS symptoms related to Familial Adenomatous Polyposis 1:


abdominal pain; diarrhea

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ADGRV1 AHI1 APC AVPR2 FOXG1 MYBPC3
2 growth/size/body region MP:0005378 9.63 AHI1 APC AVPR2 FOXG1 MYBPC3 PRRT2
3 homeostasis/metabolism MP:0005376 9.5 ADGRV1 AHI1 APC AVPR2 FOXG1 MYBPC3
4 muscle MP:0005369 8.92 APC FOXG1 MYBPC3 PRRT2

Drugs & Therapeutics for Familial Adenomatous Polyposis 1

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

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2
Azithromycin Approved Phase 4 83905-01-5 447043 55185
3
Rofecoxib Approved, Investigational, Withdrawn Phase 4 162011-90-7 5090
4 Gastrointestinal Agents Phase 4
5 Erythromycin stearate Phase 4
6 Erythromycin Estolate Phase 4
7 Erythromycin Ethylsuccinate Phase 4
8 Anti-Bacterial Agents Phase 4
9 Cyclooxygenase 2 Inhibitors Phase 4
10
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
11
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
12 Omega 3 Fatty Acid Phase 3
13
Metformin Approved Phase 2 657-24-9 4091 14219
14
Turmeric Approved, Experimental, Investigational Phase 2
15
Niclosamide Approved, Investigational, Vet_approved Phase 2 50-65-7 4477
16
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
19
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
21 Hypoglycemic Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Turmeric extract Phase 2
24 retinol Phase 2
25 Retinol palmitate Phase 2
26 Anthelmintics Phase 2
27 Antibiotics, Antitubercular Phase 2
28 Immunosuppressive Agents Phase 2
29 Immunologic Factors Phase 2
30 Antifungal Agents Phase 2
31
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
32 Protein Kinase Inhibitors Phase 2
33
Bevacizumab Approved, Investigational Phase 1 216974-75-3
34 Raspberry Approved Phase 1
35 Angiogenesis Inhibitors Phase 1
36 Mitogens Phase 1
37 Antineoplastic Agents, Immunological Phase 1
38 Endothelial Growth Factors Phase 1
39
Mineral oil Approved, Vet_approved 8042-47-5
40
Polyestradiol phosphate Approved Early Phase 1 28014-46-2
41
Estradiol Approved, Investigational, Vet_approved Early Phase 1 50-28-2 5757
42 Antibodies
43 Immunoglobulins
44 Hormone Antagonists Early Phase 1
45 Hormones Early Phase 1
46 Estradiol 17 beta-cypionate Early Phase 1
47 Estradiol 3-benzoate Early Phase 1
48 Fluorides Early Phase 1
49 Estrogens Early Phase 1
50 Antibodies, Monoclonal

Interventional clinical trials:

(show top 50) (show all 64)
# 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 Azithromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Not yet recruiting NCT04454151 Phase 4 Azithromycin Tablets
4 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
5 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
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 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 Completed NCT01483144 Phase 3 Eflornithine;Eflornithine Placebo;Sulindac 150 MG;Sulindac placebo
8 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
9 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
10 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
11 A Phase III Placebo-Controlled Trial Of Celecoxib In Genotype Positive Subjects With Familial Adenomatous Polyposis Terminated NCT00585312 Phase 3 Celecoxib;Placebo
12 Coxib-inhibition of Duodenal Polyp Growth in Familial Adenomatous Polyposis Terminated NCT00844727 Phase 2, Phase 3 Rofecoxib;placebo
13 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
14 Chemoprevention of Duodenal Polyps in Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
15 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)
16 Efficacy of Wholistic Turmeric Supplementation on Polyp Number and Size in Patients With Familial Adenomatous Polyposis A Randomized, Double Blinded, Placebo Controlled Study Unknown status NCT03061591 Phase 2
17 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2 Metformin;Metformin;Placebo
18 Sirolimus for the Treatment of Severe Intestinal Polyposis in Patients With Familial Adenomatous Polyposis (FAP): a Pilot Study Completed NCT03095703 Phase 2 Sirolimus
19 Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00641147 Phase 2 Curcumin
20 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
21 A Two-Arm Phase II Chemoprevention Trial in Adenomatous Polyposis Coli Patients Completed NCT00033371 Phase 2 Celecoxib;eflornithine
22 The Chemopreventive Effect of Niclosamide in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Recruiting NCT04296851 Phase 2 Niclosamide;placebo
23 Phase IIA Trial of Encapsulated Rapamycin (eRapa) to Prevent Progression in Familial Adenomatous Polyposis Patients Under Active Surveillance Recruiting NCT04230499 Phase 2 Encapsulated Rapamycin (eRapa)
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 Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis (FAP) Patients Withdrawn NCT00248053 Phase 2 curcumin
27 Phase I Pilot Toxicity/Methods Validation Study of Celecoxib in Genotype-Positive Children With Familial Adenomatous Polyposis Completed NCT00685568 Phase 1 celecoxib
28 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
29 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
30 A Phase 1b, Multicenter, Randomized, Blinded, Placebo-controlled Study to Evaluate the Efficacy of Guselkumab in Subjects With Familial Adenomatous Polyposis Active, not recruiting NCT03649971 Phase 1 Guselkumab;Placebo
31 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
32 Small Bowel Endoscopic Evaluation in Familial Adenomatous Polyposis: A Prospective Clinical, Immunopathologic and Molecular Analysis Unknown status NCT02656134
33 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
34 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092
35 Vanderbilt Hereditary Colorectal Cancer Registry Completed NCT00675636
36 Preventive Anti-inflammatory Diet to Reduce Gastro-intestinal Inflammation in FAP Patients: a Prospective Pilot Study Completed NCT04552405
37 Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00927485 Calcumin (Curcumin)
38 Multimedia Intervention in Patients With Familial Adenomatous Polyposis (FAP) Completed NCT00525655
39 Endoscopic Evaluation of Duodenal Polyposis in Patients With Familial Adenomatous Polyposis (FAP) - a Single Center Prospective Validation of the Spigelman Classification Completed NCT03346980
40 Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch? Completed NCT01173250
41 Single Incision Laparoscopic Surgery (SILS) for Colorectal Disease - A Novel Approach Completed NCT01656746
42 Endoscopic Papillectomy for Ampullary Adenomas: an Italian Single Centre Experience Completed NCT03494543
43 Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis Recruiting NCT03847532
44 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862
45 A Personalized Surveillance and Intervention Protocol for Duodenal and Gastric Polyposis in Patients With Familial Adenomatous Polyposis Recruiting NCT04677998
46 A Personalized Surveillance and Intervention Protocol for Patients With Familial Adenomatous Polyposis That Have Undergone (Procto)Colectomy Recruiting NCT04678011
47 Cold Snare Polypectomy for Duodenal Adenomas in Familial Adenomatous Polyposis Recruiting NCT03471403
48 The Value of Objective Perfusion Rate Assessment by Near-infrared Fluorescence During Restorative Ileal Pouch Formation and Ileal-pouch-anal Anastomosis Recruiting NCT04695964
49 The Value of Subjective Near-infrared Fluorescence Guidance in Assessment of Perfusion During Restorative Ileal Pouch Formation and Ileal-pouch-anal Anastomosis Recruiting NCT04695184
50 Objective Perfusion Rate Assessment of Gastrointestinal Anastomoses by Inflow and Outflow Analysis of Near-infrared Fluorescence Agents Recruiting NCT04709445

Search NIH Clinical Center for Familial Adenomatous Polyposis 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Eye, Pancreas, Brain, Breast, Adrenal Gland

Publications for Familial Adenomatous Polyposis 1

Articles related to Familial Adenomatous Polyposis 1:

(show top 50) (show all 760)
# Title Authors PMID Year
1
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. 61 54 6 57
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. 6 57
27087319 2016
3
APC promoter 1B deletion in seven American families with familial adenomatous polyposis. 6 57
25243319 2015
4
APC promoter 1B deletion in familial polyposis--implications for mutation-negative families. 57 6
23725351 2014
5
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 57 6
20685668 2010
6
Case records of the Massachusetts General Hospital. Case 37-2006. A 19-year-old woman with thyroid cancer and lower gastrointestinal bleeding. 57 6
17135589 2006
7
Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. 6 57
11839722 2002
8
Genotype-phenotype correlations in attenuated adenomatous polyposis coli. 6 57
9585611 1998
9
An unusually severe phenotype for familial adenomatous polyposis. 57 6
9487968 1997
10
APC mutations in familial adenomatous polyposis families in the Northwest of England. 6 57
9375853 1997
11
Desmoid tumors: genotype-phenotype differences in familial adenomatous polyposis--a nosological dilemma. 57 6
8940262 1996
12
Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP). 6 57
8281160 1993
13
Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. 57 6
1324223 1992
14
Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 6 57
1316610 1992
15
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. 6 57
1651563 1991
16
Multiple polyposis coli associated with Gardner's syndrome and chromosomal mosaicism: a family analysis. 57 6
2164769 1990
17
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations. 57 61
31070935 2019
18
A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing. 6 61
24735542 2014
19
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
20
Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli. 61 6
22150579 2012
21
A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality. 61 6
15095859 2004
22
Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome. 61 6
11145293 2000
23
[Association of Gardner syndrome and thyroid carcinoma]. 57 61
7899423 1995
24
Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. 61 57
1776638 1991
25
Molecular nature of chromosome 5q loss in colorectal tumors and desmoids from patients with familial adenomatous polyposis. 61 57
2172153 1990
26
Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. 61 57
2903664 1988
27
Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis. 61 57
2852900 1988
28
Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. 57 61
3354603 1988
29
A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium. 57 61
3422541 1988
30
Gardner syndrome and interstitial chromosome deletion. 61 57
2827476 1987
31
Gardner syndrome in a man with an interstitial deletion of 5q. 61 57
3789010 1986
32
The Gardner syndrome. Significance of ocular features. 61 57
6493700 1984
33
Failure to demonstrate a chromosome 2 deletion in adenomatous colorectal polyposis patients. 57 61
6690013 1984
34
Multiclonal origin of polyps in Gardner syndrome. 57 61
6879192 1983
35
Inherited susceptibility to retrovirus-induced transformation of Gardner syndrome cells. 61 57
6310993 1983
36
Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome. 57 61
6805315 1982
37
Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum. 57 61
7059954 1982
38
Hereditary polyposis coli. III. Genetic and evolutionary fitness. 57 61
7424910 1980
39
Gardner syndrome and periampullary malignancy. 61 57
6999900 1980
40
The Gardner syndrome: a cell culture study on kindred 109. 57 61
739523 1978
41
Penetrance and expressivity of the gene responsible for the Gardner syndrome. 57 61
880737 1977
42
The Gardner syndrome: increased tetraploidy in cultured skin fibroblast. 57 61
1271427 1976
43
The gardner syndrome. A study in cell culture. 57 61
1212649 1975
44
Adenocarcinoma of the duodenum and the Gardner syndrome. 61 57
4739325 1973
45
Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis. 6
31113927 2019
46
Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol. 6
30897307 2019
47
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. 6
29406563 2018
48
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 6
28944238 2017
49
Molecular profiling of colorectal pulmonary metastases and primary tumours: implications for targeted treatment. 6
29029407 2017
50
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. 6
28125075 2017

Variations for Familial Adenomatous Polyposis 1

ClinVar genetic disease variations for Familial Adenomatous Polyposis 1:

6 (show top 50) (show all 5129)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) SNV Conflicting interpretations of pathogenicity, association, risk factor 822 rs1801155 GRCh37: 5:112175211-112175211
GRCh38: 5:112839514-112839514
2 APC NM_000038.5(APC):c.730_731delAG (p.Arg244Valfs) Microsatellite Pathogenic 793 rs387906228 GRCh37: 5:112136974-112136975
GRCh38: 5:112801277-112801278
3 APC NM_000038.6(APC):c.1240C>T (p.Arg414Cys) SNV Pathogenic 797 rs137854567 GRCh37: 5:112154969-112154969
GRCh38: 5:112819272-112819272
4 APC NM_000038.6(APC):c.505_508ATAG[1] (p.Asp170fs) Microsatellite Pathogenic 804 rs387906231 GRCh37: 5:112111408-112111411
GRCh38: 5:112775711-112775714
5 APC NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs) Microsatellite Pathogenic 811 rs387906234 GRCh37: 5:112175676-112175677
GRCh38: 5:112839979-112839980
6 APC NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) Deletion Pathogenic 823 rs387906236 GRCh37: 5:112175902-112175903
GRCh38: 5:112840205-112840206
7 APC NM_000038.6(APC):c.1098_1099CT[1] (p.Ser367fs) Microsatellite Pathogenic 428117 rs387906237 GRCh37: 5:112154827-112154828
GRCh38: 5:112819130-112819131
8 APC NM_000038.6(APC):c.4385_4386AG[3] (p.Glu1464fs) Microsatellite Pathogenic 812 rs387906234 GRCh37: 5:112175676-112175679
GRCh38: 5:112839979-112839982
9 APC NM_000038.6(APC):c.4385_4386AG[3] (p.Glu1464fs) Microsatellite Pathogenic 812 rs387906234 GRCh37: 5:112175676-112175679
GRCh38: 5:112839979-112839982
10 APC NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs) Microsatellite Pathogenic 811 rs387906234 GRCh37: 5:112175676-112175677
GRCh38: 5:112839979-112839980
11 APC NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) Deletion Pathogenic 823 rs387906236 GRCh37: 5:112175902-112175903
GRCh38: 5:112840205-112840206
12 APC NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs) Microsatellite Pathogenic 811 rs387906234 GRCh37: 5:112175676-112175677
GRCh38: 5:112839979-112839980
13 APC NM_000038.6(APC):c.1312+3A>G SNV Pathogenic 217924 rs863225311 GRCh37: 5:112155044-112155044
GRCh38: 5:112819347-112819347
14 APC NM_000038.6(APC):c.2413C>T (p.Arg805Ter) SNV Pathogenic 127281 rs587779783 GRCh37: 5:112173704-112173704
GRCh38: 5:112838007-112838007
15 APC NM_000038.6(APC):c.847C>T (p.Arg283Ter) SNV Pathogenic 184999 rs786201856 GRCh37: 5:112151204-112151204
GRCh38: 5:112815507-112815507
16 APC NM_000038.6(APC):c.646C>T (p.Arg216Ter) SNV Pathogenic 127312 rs62619935 GRCh37: 5:112128143-112128143
GRCh38: 5:112792446-112792446
17 APC NM_000038.6(APC):c.70C>T (p.Arg24Ter) SNV Pathogenic 184702 rs145945630 GRCh37: 5:112090657-112090657
GRCh38: 5:112754960-112754960
18 APC NM_000038.6(APC):c.637C>T (p.Arg213Ter) SNV Pathogenic 140952 rs587781392 GRCh37: 5:112116592-112116592
GRCh38: 5:112780895-112780895
19 APC NM_000038.6(APC):c.646C>T (p.Arg216Ter) SNV Pathogenic 127312 rs62619935 GRCh37: 5:112128143-112128143
GRCh38: 5:112792446-112792446
20 APC NM_000038.6(APC):c.694C>T (p.Arg232Ter) SNV Pathogenic 42248 rs397515734 GRCh37: 5:112128191-112128191
GRCh38: 5:112792494-112792494
21 APC NM_000038.6(APC):c.847C>T (p.Arg283Ter) SNV Pathogenic 184999 rs786201856 GRCh37: 5:112151204-112151204
GRCh38: 5:112815507-112815507
22 APC NM_000038.6(APC):c.933+1G>A SNV Pathogenic 233970 rs876660765 GRCh37: 5:112151291-112151291
GRCh38: 5:112815594-112815594
23 APC NM_000038.6(APC):c.1660C>T (p.Arg554Ter) SNV Pathogenic 807 rs137854573 GRCh37: 5:112164586-112164586
GRCh38: 5:112828889-112828889
24 APC NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) SNV Pathogenic 810 rs137854575 GRCh37: 5:112174096-112174096
GRCh38: 5:112838399-112838399
25 APC NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) SNV Pathogenic 545962 rs1554085355 GRCh37: 5:112175158-112175158
GRCh38: 5:112839461-112839461
26 APC NM_000038.6(APC):c.637C>T (p.Arg213Ter) SNV Pathogenic 140952 rs587781392 GRCh37: 5:112116592-112116592
GRCh38: 5:112780895-112780895
27 APC NM_000038.6(APC):c.70C>T (p.Arg24Ter) SNV Pathogenic 184702 rs145945630 GRCh37: 5:112090657-112090657
GRCh38: 5:112754960-112754960
28 APC NM_000038.6(APC):c.694C>T (p.Arg232Ter) SNV Pathogenic 42248 rs397515734 GRCh37: 5:112128191-112128191
GRCh38: 5:112792494-112792494
29 APC NM_000038.6(APC):c.1660C>T (p.Arg554Ter) SNV Pathogenic 807 rs137854573 GRCh37: 5:112164586-112164586
GRCh38: 5:112828889-112828889
30 APC NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) SNV Pathogenic 810 rs137854575 GRCh37: 5:112174096-112174096
GRCh38: 5:112838399-112838399
31 APC NM_000038.6(APC):c.1979del (p.Asn660fs) Deletion Pathogenic 659403 rs1580617162 GRCh37: 5:112173269-112173269
GRCh38: 5:112837572-112837572
32 APC NM_000038.6(APC):c.6091del (p.Ser2031fs) Deletion Pathogenic 659568 rs1580667434 GRCh37: 5:112177382-112177382
GRCh38: 5:112841685-112841685
33 APC NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) SNV Pathogenic 187612 rs768922431 GRCh37: 5:112178000-112178000
GRCh38: 5:112842303-112842303
34 APC NM_000038.6(APC):c.7432del (p.Gln2478fs) Deletion Pathogenic 660938 rs1580682528 GRCh37: 5:112178721-112178721
GRCh38: 5:112843024-112843024
35 APC NM_000038.6(APC):c.3137del (p.Asn1046fs) Deletion Pathogenic 661528 rs1580631422 GRCh37: 5:112174427-112174427
GRCh38: 5:112838730-112838730
36 APC NM_000038.6(APC):c.3199C>T (p.Gln1067Ter) SNV Pathogenic 803 rs137854571 GRCh37: 5:112174490-112174490
GRCh38: 5:112838793-112838793
37 APC NM_000038.6(APC):c.3935del (p.Gly1312fs) Deletion Pathogenic 661934 rs1580641874 GRCh37: 5:112175225-112175225
GRCh38: 5:112839528-112839528
38 APC NM_000038.6(APC):c.4516del (p.Ser1505_Leu1506insTer) Deletion Pathogenic 662242 rs1580649145 GRCh37: 5:112175806-112175806
GRCh38: 5:112840109-112840109
39 APC NM_000038.6(APC):c.3793_3794insCTT (p.Glu1265delinsAlaTer) Insertion Pathogenic 662172 rs1580640215 GRCh37: 5:112175084-112175085
GRCh38: 5:112839387-112839388
40 APC NM_000038.6(APC):c.6395C>G (p.Ser2132Ter) SNV Pathogenic 662578 rs1580670427 GRCh37: 5:112177686-112177686
GRCh38: 5:112841989-112841989
41 APC NC_000005.10:g.(?_112707312)_(112844126_?)del Deletion Pathogenic 662855 GRCh37: 5:112043009-112179823
GRCh38: 5:112707312-112844126
42 APC NM_000038.6(APC):c.3920_3924del (p.Ile1307fs) Deletion Pathogenic 419999 rs1064794229 GRCh37: 5:112175208-112175212
GRCh38: 5:112839511-112839515
43 APC NM_000038.6(APC):c.3877dup (p.Thr1293fs) Duplication Pathogenic 663859 rs1580641118 GRCh37: 5:112175167-112175168
GRCh38: 5:112839470-112839471
44 APC NM_000038.6(APC):c.4891_4894del (p.Ser1631fs) Deletion Pathogenic 664418 rs1580653770 GRCh37: 5:112176179-112176182
GRCh38: 5:112840482-112840485
45 APC NM_000038.6(APC):c.1744-6_1744-4delinsAG Indel Pathogenic 664704 rs1580603007 GRCh37: 5:112170642-112170644
GRCh38: 5:112834945-112834947
46 APC NM_000038.6(APC):c.1600A>T (p.Lys534Ter) SNV Pathogenic 665501 rs1580569295 GRCh37: 5:112163677-112163677
GRCh38: 5:112827980-112827980
47 APC NM_000038.6(APC):c.532-2A>C SNV Pathogenic 666011 rs752152148 GRCh37: 5:112116485-112116485
GRCh38: 5:112780788-112780788
48 APC NM_000038.6(APC):c.3189_3192del (p.Glu1064fs) Deletion Pathogenic 664591 rs1580632210 GRCh37: 5:112174478-112174481
GRCh38: 5:112838781-112838784
49 APC NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) Deletion Pathogenic 140863 rs587781330 GRCh37: 5:112177225-112177228
GRCh38: 5:112841528-112841531
50 APC NM_000038.6(APC):c.894_895CT[1] (p.Ser299fs) Microsatellite Pathogenic 42251 rs397515735 GRCh37: 5:112151251-112151252
GRCh38: 5:112815554-112815555

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

72
# 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.Leu2839Phe VAR_005057 rs876658156
9 APC p.Ser722Gly VAR_009614
10 APC p.Ala1184Pro VAR_009616

Expression for Familial Adenomatous Polyposis 1

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

Pathways for Familial Adenomatous Polyposis 1

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 cell projection GO:0042995 8.92 PRRT2 APC AHI1 ADGRV1

Sources for Familial Adenomatous Polyposis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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