FAP
MCID: FML011
MIFTS: 89

Familial Adenomatous Polyposis (FAP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Familial Adenomatous Polyposis

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Genetics Home Reference:21 Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.

MalaCards based summary: Familial Adenomatous Polyposis, also known as adenomatous polyposis coli, is related to desmoid tumor and gardner syndrome, and has symptoms including polyposis of the bowel/colon/intestine, autosomal dominant inheritance and neoplasms/tumors. An important gene associated with Familial Adenomatous Polyposis is APC (adenomatous polyposis coli), and among its related pathways are Depurination and Incretin Synthesis, Secretion, and Inactivation. The drug celecoxib and the compounds af/ap and 1-hydroxyanthraquinone have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and testes, and related mouse phenotypes are craniofacial and integument.

Disease Ontology:8 An autosomal dominant disease that is caused by mutations in the apc gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.

NIH Rare Diseases:42 Familial adenomatous polyposis (fap) is an inherited colorectal cancer syndrome. cancer usually develops in the lower part of the digestive system, including the large intestine (colon) and rectum. people with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) polyps (growths) in the colon as early as their teenage years. the average age at which an individual develops colon cancer in classic familial adenomatous polyposis is about 39 years. mutations in the apc gene cause classic familial adenomatous polyposis. last updated: 4/6/2010

Wikipedia:65 Familial adenomatous polyposis (FAP) is an inherited condition in which numerous adenomatous polyps form... more...

Descriptions from OMIM:46 175100,608456

Aliases & Classifications for Familial Adenomatous Polyposis

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Sources:
8Disease Ontology, 65Wikipedia, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 22GTR, 46OMIM, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Familial Adenomatous Polyposis, Aliases & Descriptions:

Name: Familial Adenomatous Polyposis 8 65 42 20 21 10 44 48 62
Adenomatous Polyposis Coli 65 42 22 21 46 62
Adenomatous Polyposis of the Colon 8 65 42 62
Fap 65 42 21 48
Familial Multiple Polyposis 42 22 62
Familial Adenomatous Polyposis of the Colon 42 62
Attenuated Familial Adenomatous Polyposis 48 62
Familial Multiple Polyposis Syndrome 21 62
Familial Polyposis of the Colon 42 62
Familial Intestinal Polyposis 42 62
Hereditary Polyposis Coli 65 42
Myh-Associated Polyposis 21 62
Gardner Syndrome 48 62
Afap 48 62
Apc-Related Attenuated Familial Adenomatous Polyposis 48
 
Apc-Related Attenuated Familial Polyposis Coli 48
Adenomatous Familial Polyposis Syndrome 21
Attenuated Familial Polyposis Coli 48
Polyposis, Adenomatous Intestinal 42
Colorectal Adenomatous Polyposis 48
Turcot Syndrome with Polyposis 48
Adenomatous Familial Polyposis 21
Atrial Premature Complexes 62
Apc-Related Attenuated Fap 48
Familial Polyposis Coli 48
Colon Cancer, Familial 65
Apc-Related Afap 48
Polyposis Coli 65
Attenuated Fap 48
Fpc 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial adenomatous polyposis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult
apc-related attenuated familial adenomatous polyposis:
Inheritance: Autosomal dominant,Autosomal recessive
attenuated familial adenomatous polyposis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood
turcot syndrome with polyposis:
Inheritance: Autosomal dominant; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:0050424
MeSH34 D011125
MESH via Orphanet35 D011125, C538265, D005736
ICD10 via Orphanet26 D12.6
UMLS via Orphanet63 C0032580, C2674616, C0017097

Related Diseases for Familial Adenomatous Polyposis

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Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Diseases related to Familial Adenomatous Polyposis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 184)
idRelated DiseaseScoreTop Affiliating Genes
1desmoid tumor32.1APC, CTNNB1
2gardner syndrome31.5APC, CTNNB1
3turcot syndrome31.5MSH2, MSH6
4lynch syndrome31.5MSH6, MSH2
5hepatocellular adenoma31.5CTNNB1, APC
6hepatoblastoma31.3AXIN2, APC, CTNNB1
7fibromatosis31.1CTNNB1, APC
8medulloblastoma31.1APC, CTNNB1
9peutz-jeghers syndrome31.0CTNNB1, APC
10juvenile polyposis syndrome31.0APC
11muir-torre syndrome31.0MSH2, MSH6
12gastric cancer, somatic30.9MUTYH, APC
13familial colorectal cancer30.8APC, MSH2, MSH6
14lung cancer30.6PTGS2, ODC1, CDX2, OGG1
15stomach cancer30.6CDX2
16breast cancer30.4MSH6, MSH2, CDX2, WNT1, CTNNB1, ODC1
17colorectal cancer30.4APC, ODC1, PTGS2, MUTYH, MSH6, CTNNB1
18lung adenocarcinoma30.3PTGS2, OGG1, CTNNB1, CDX2
19barrett's esophagus30.3PTGS2, ODC1, APC, CDX2
20adenocarcinoma30.1MSH6, OGG1, KLF4, MSH2, APC, ODC1
21gastric adenocarcinoma30.1ODC1, PTGS2, APC, KLF4, CDX2, CTNNB1
22non-small cell lung carcinoma30.1PTGS2, ODC1, CTNNB1, CDX2, OGG1, APC
23leukemia29.6SMPD1, NUDT1, ODC1, MSH2, OGG1, CDX2
24pancreatic cancer29.5PTGS2, KLF4, WNT1, CTNNB1, MSH2, CDX2
25adenoma29.4AXIN2, SMPD1, CTNNB1, OGG1, KLF4, FMO3
26attenuated familial adenomatous polyposis11.1
27duodenitis11.1
28colitis10.9
29thyroiditis10.9
30ulcerative colitis10.9
31colorectal adenoma10.7
32papillary thyroid carcinoma10.7
33pancreatitis10.6
34thyroid cancer10.6
35polyneuropathy10.6
36pouchitis10.6
37oral squamous cell carcinoma10.5
38neuronitis10.5
39hepatocellular carcinoma10.5
40colon adenoma10.5
41nasopharyngitis10.5
42gastroduodenitis10.5
43colon cancer10.5
44retinitis10.5
45mutyh-associated polyposis10.5
46blindness10.5
47familial adenomatous polyposis due to 5q22.2 microdeletion10.5
48crohn's disease10.5
49acute pancreatitis10.5
50papillary carcinoma10.5

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



Diseases related to familial adenomatous polyposis

Symptoms for Familial Adenomatous Polyposis

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Symptoms by clinical synopsis from OMIM:

175100

Clinical features from OMIM:

175100,608456

Symptoms:

48 (show all 12)
  • polyposis of the bowel/colon/intestine
  • autosomal dominant inheritance
  • neoplasms/tumors
  • colon neoplasm/tumor/carcinoma/cancer
  • supernumerary teeth/polyodontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • dental cysts/tumors
  • irregular/in bands/reticular skin hyperpigmentation
  • xanthomas/lipomas
  • fibromatosis/bone fibroma
  • sarcoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Familial Adenomatous Polyposis:

(show all 35)
id Description Frequency HPO Source Accession
1 adenomatous colonic polyposis hallmark (90%) HP:0005227
2 intestinal polyposis hallmark (90%) HP:0200008
3 duodenal polyposis typical (50%) HP:0004783
4 neoplasm of the colon typical (50%) HP:0100273
5 colon cancer frequent (33%) HP:0003003
6 multiple gastric polyps frequent (33%) HP:0004394
7 adrenocortical adenoma 13% HP:0008256
8 desmoid tumors 10% HP:0100245
9 carious teeth occasional (7.5%) HP:0000670
10 unerupted tooth occasional (7.5%) HP:0000706
11 congenital hypertrophy of retinal pigment epithelium occasional (7.5%) HP:0007649
12 fibroma of the breast occasional (7.5%) HP:0010619
13 increased number of teeth occasional (7.5%) HP:0011069
14 osteoma occasional (7.5%) HP:0100246
15 epidermoid cyst occasional (7.5%) HP:0200040
16 delayed eruption of teeth occasional (7.5%) HP:0000684
17 multiple lipomas occasional (7.5%) HP:0001012
18 neoplasm of the nervous system occasional (7.5%) HP:0004375
19 irregular hyperpigmentation occasional (7.5%) HP:0007400
20 increased number of teeth occasional (7.5%) HP:0011069
21 sarcoma occasional (7.5%) HP:0100242
22 odontogenic neoplasm occasional (7.5%) HP:0100612
23 duodenal carcinoma 4% HP:0006771
24 hepatoblastoma 1.6% HP:0002884
25 medulloblastoma very rare (1%) HP:0002885
26 papillary thyroid carcinoma very rare (1%) HP:0002895
27 autosomal dominant inheritance HP:0000006
28 hyperpigmentation of the skin HP:0000953
29 multiple lipomas HP:0001012
30 variable expressivity HP:0003828
31 small intestine carcinoid HP:0006722
32 adrenocortical carcinoma HP:0006744
33 astrocytoma HP:0009592
34 keloids HP:0010562
35 odontoma HP:0011068

Drugs & Therapeutics for Familial Adenomatous Polyposis

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Drug clinical trials:

Search ClinicalTrials for Familial Adenomatous Polyposis

Search NIH Clinical Center for Familial Adenomatous Polyposis

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Familial Adenomatous Polyposis

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Genetic tests related to Familial Adenomatous Polyposis:

id Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis20
2 Adenomatous Polyposis Coli22
3 Familial Multiple Polyposis Syndrome22

Anatomical Context for Familial Adenomatous Polyposis

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MalaCards organs/tissues related to Familial Adenomatous Polyposis:

32
Colon, Thyroid, Testes, Skin, Pancreas, Bone, Eye, Small intestine, Brain, Lung, Spleen, Kidney, Liver, Testis

Animal Models for Familial Adenomatous Polyposis or affiliated genes

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Publications for Familial Adenomatous Polyposis

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Articles related to Familial Adenomatous Polyposis:

(show top 50)    (show all 758)
idTitleAuthorsYear
1
Cell reconstruction of the rectal mucosa in patients with familial adenomatous polyposis: endoscopy, morphology, immunohistochemistry. (25257440)
2014
2
Desmoid tumour biology in patients with familial adenomatous polyposis coli. (23334997)
2013
3
Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial. (23919274)
2013
4
Screening and Health Behaviors among Persons Diagnosed with Familial Adenomatous Polyposis and Their Relatives. (22899922)
2012
5
Severe duodenal involvement in familial adenomatous polyposis treated by pylorus-preserving pancreaticoduodenectomy. (22311120)
2012
6
A De Novo Germline APC Mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review. (23115482)
2012
7
Imaging assessment of desmoid tumours in familial adenomatous polyposis: is state-of-the-art 1.5 T MRI better than 64-MDCT? (22215881)
2012
8
Perinatal detection of familial adenomatous polyposis. (22825279)
2012
9
Surgical treatment of familial adenomatous polyposis: experience from a single institution in China. (22897208)
2012
10
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). (22103048)
2011
11
Modified multivisceral transplantation with spleen-preserving pancreaticoduodenectomy for patients with familial adenomatous polyposis "Gardner's Syndrome". (21512435)
2011
12
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. (20924072)
2011
13
Prevalence of gastric and duodenal polyps and risk factors for duodenal neoplasm in korean patients with familial adenomatous polyposis. (21461071)
2011
14
Attenuated familial adenomatous polyposis: results from an international collaborative study. (20105204)
2010
15
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. (20033787)
2010
16
A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour. (20589194)
2010
17
Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis. (21059714)
2010
18
Familial adenomatous polyposis-associated ampullary adenoma: response to chemotherapy for concurrent metastatic adenocarcinoma. (19245848)
2009
19
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. (19444466)
2009
20
Novel cell culture model for prevention of carcinogenic risk in familial adenomatous polyposis syndrome. (19288003)
2009
21
Rectal and pouch recurrences after surgical treatment for familial adenomatous polyposis. (18766422)
2009
22
Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrence. (18704758)
2009
23
Chromoendoscopy, narrow-band imaging colonoscopy, and autofluorescence colonoscopy for detection of diminutive colorectal neoplasia in familial adenomatous polyposis. (19581862)
2009
24
Magnified endoscopic observation using narrow-band imaging of periampullary adenoma in a patient with familial adenomatous polyposis. (19946237)
2009
25
Familial adenomatous polyposis in children younger than age ten years: a multidisciplinary clinic experience. (18157572)
2008
26
Is capsule endoscopy safe and useful for small-bowel surveillance in patients with familial adenomatous polyposis? (18607405)
2008
27
Adenocarcinoma arising in the ileoanal pouch after restorative proctocolectomy for familial adenomatous polyposis. (18030481)
2008
28
A papillary thyroid carcinoma case associated with hereditary colon carcinoma due to familial adenomatous polyposis with no hereditary mutation finding. (15834731)
2007
29
Deletion mutation of BRAF in a serrated adenoma from a patient with familial adenomatous polyposis. (17696956)
2007
30
Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). (17486639)
2007
31
Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. (17355417)
2007
32
Familial adenomatous polyposis complicated with Crohn's disease. (16775703)
2006
33
Outcome of familial adenomatous polyposis: a retrospective study. (17718282)
2006
34
Genetic polymorphisms of flavin monooxygenase 3 in sulindac-induced regression of colorectal adenomas in familial adenomatous polyposis. (16214918)
2005
35
APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations. (15857185)
2005
36
Lung adenocarcinoma associated with familial adenomatous polyposis. Clear cell carcinoma with beta-catenin accumulation accompanied by atypical adenomatous hyperplasia. (15660284)
2005
37
High-grade pancreatic intraepithelial neoplasia in a patient with familial adenomatous polyposis. (16253018)
2005
38
Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case. (16228830)
2005
39
Familial adenomatous polyposis syndrome (FAP): pathogenesis and molecular mechanisms]. (14685680)
2003
40
Rectal epithelial apoptosis in familial adenomatous polyposis patients treated with sulindac. (10562579)
1999
41
Germline mutations are frequent in the APC gene but absent in the beta-catenin gene in familial adenomatous polyposis patients. (10398435)
1999
42
Genetic diagnosis of familial adenomatous polyposis: detection of APC gene mutations based on an in vitro synthetized protein]. (9580364)
1998
43
Childhood hepatocellular adenoma in familial adenomatous polyposis: mutations in adenomatous polyposis coli gene and p53. (9041254)
1997
44
Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. (9378405)
1997
45
Sulindac induced regression of colorectal adenomas in familial adenomatous polyposis: evaluation of predictive factors. (8707091)
1996
46
p53 Protein overexpression in colorectal tumors from patients with familial adenomatous polyposis: is it an early or late event? (8561108)
1996
47
Desmoids in familial adenomatous polyposis. (9014661)
1996
48
Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. (9038672)
1996
49
The clinical [corrected] background of familial adenomatous polyposis. History, epidemiology, diagnosis and treatment. (7571988)
1995
50
Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5. (2157824)
1990

Variations for Familial Adenomatous Polyposis

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

64 (show all 11)
id Symbol AA change Variation ID SNP ID
1APCp.Ser171IleVAR_005032
2APCp.Arg414CysVAR_005033rs137854567
3APCp.Ser784ThrVAR_005034
4APCp.Glu911GlyVAR_005038
5APCp.Pro1176LeuVAR_005044
6APCp.Thr1313AlaVAR_005051
7APCp.Arg1348TrpVAR_005053
8APCp.Ser2621CysVAR_005056rs72541816
9APCp.Leu2839PheVAR_005057
10APCp.Ser722GlyVAR_009614
11APCp.Ala1184ProVAR_009616

Clinvar genetic disease variations for Familial Adenomatous Polyposis:

6 (show all 39)
id Gene Name Type Significance SNP ID Assembly Location
1MUTYHNM_001128425.1(MUTYH): c.1437_1439delGGA (p.Glu480del)deletionPathogenicGRCh37Chr 1, 45796891: 45796893
2MUTYHNM_001128425.1(MUTYH): c.1228_1229insGG (p.Glu410Glyfs)insertionPathogenicGRCh37Chr 1, 45797186: 45797187
3MUTYHNM_001128425.1(MUTYH): c.933+3A> Csingle nucleotide variantPathogenicGRCh37Chr 1, 45797835: 45797835
4MUTYHMUTYH, EX3-6DELdeletionPathogenic
5MUTYHNM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp)single nucleotide variantPathogenicrs200844166GRCh37Chr 1, 45796912: 45796912
6MUTYHNM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys)single nucleotide variantLikely pathogenicrs200495564GRCh37Chr 1, 45798118: 45798118
7MUTYHNM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys)single nucleotide variantPathogenicrs34612342GRCh37Chr 1, 45798475: 45798475
8MUTYHNM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp)single nucleotide variantPathogenicrs36053993GRCh37Chr 1, 45797228: 45797228
9MUTYHNM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs)deletionPathogenicGRCh37Chr 1, 45796869: 45796869
10MUTYHNM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter)single nucleotide variantPathogenicrs121908380GRCh37Chr 1, 45799121: 45799121
11MUTYHNM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter)single nucleotide variantPathogenicrs121908381GRCh37Chr 1, 45796892: 45796892
12APCNM_000038.5(APC): c.730_731delAG (p.Arg244Valfs)deletionPathogenicrs387906228GRCh37Chr 5, 112136976: 112136977
13APCNM_000038.5(APC): c.1369delT (p.Ser457Hisfs)deletionPathogenicrs387906229GRCh37Chr 5, 112157649: 112157649
14APCNM_000038.5(APC): c.1500T> G (p.Tyr500Ter)single nucleotide variantPathogenicrs387906230GRCh37Chr 5, 112162896: 112162896
15APCNM_000038.5(APC): c.1240C> T (p.Arg414Cys)single nucleotide variantPathogenicrs137854567GRCh37Chr 5, 112154969: 112154969
16APCNM_000038.5(APC): c.904C> T (p.Arg302Ter)single nucleotide variantPathogenicrs137854568GRCh37Chr 5, 112151261: 112151261
17APCNM_000038.5(APC): c.509_512delATAG (p.Asp170Valfs)deletionPathogenicrs387906231GRCh37Chr 5, 112111412: 112111415
18APCNM_000038.5(APC): c.1069dupA (p.Ile357Asnfs)duplicationPathogenicrs387906232GRCh37Chr 5, 112154798: 112154799
19APCNM_000038.5(APC): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs137854572GRCh37Chr 5, 112163698: 112163698
20APCNM_000038.5(APC): c.1660C> T (p.Arg554Ter)single nucleotide variantPathogenicrs137854573GRCh37Chr 5, 112164586: 112164586
21APCNM_000038.5(APC): c.1690C> T (p.Arg564Ter)single nucleotide variantPathogenicrs137854574GRCh37Chr 5, 112164616: 112164616
22APCNM_000038.5(APC): c.1885_1886insA (p.Leu629Tyrfs)insertionPathogenicrs387906233GRCh37Chr 5, 112170789: 112170790
23APCNM_000038.5(APC): c.2805C> A (p.Tyr935Ter)single nucleotide variantPathogenicrs137854575GRCh37Chr 5, 112174096: 112174096
24APCNM_000038.5(APC): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs137854576GRCh37Chr 5, 112111373: 112111373
25APCNM_000038.5(APC): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs137854577GRCh37Chr 5, 112116598: 112116598
26NM_001127510.2: c.1959-640_*64188del71402deletionPathogenicGRCh37Chr 5, 112172610: 112244011
27APCNM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs)deletionPathogenicrs121913224GRCh37Chr 5, 112175218: 112175222
28APCNM_000038.5(APC): c.5942delA (p.Asn1981Ilefs)deletionPathogenicrs397509433GRCh37Chr 5, 112177233: 112177233
29APCNM_000038.5(APC): c.5582_5585delCTTT (p.Ser1861Terfs)deletionPathogenicGRCh38Chr 5, 112841176: 112841179
30APCAPC, TYR486TERsingle nucleotide variantPathogenic
31APCNM_000038.5(APC): c.1311_1312+1delAAGdeletionPathogenicrs397514030GRCh37Chr 5, 112155040: 112155042
32APCNM_000038.5(APC): c.1098_1099delCT (p.Ser367Cysfs)deletionPathogenicrs387906237GRCh37Chr 5, 112154827: 112154828
33APCNM_000038.5(APC): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs387906238GRCh37Chr 5, 112154921: 112154922
34APCNM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs)deletionPathogenicrs387906239GRCh37Chr 5, 112154666: 112154667
35APCAPC deletiondeletionPathogenicGRCh38Chr 5, 112707504: 112846240
36APCNM_000038.5(APC): c.423-1G> Asingle nucleotide variantPathogenicrs397514031GRCh37Chr 5, 112111325: 112111325
37APCAPC, 11-BP INS, NT1060insertionPathogenic
38APCNM_000038.5: c.(?_1959)_*(2113_?)deldeletionPathogenic
39APCAPC, 5-BP DEL, NT3221deletionPathogenic

Expression for genes affiliated with Familial Adenomatous Polyposis

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Expression patterns in normal tissues for genes affiliated with Familial Adenomatous Polyposis

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

Pathways for genes affiliated with Familial Adenomatous Polyposis

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Pathways related to Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0OGG1, MUTYH
2
Show member pathways
9.8CTNNB1, CDX2
39.7MSH6, MSH2, CTNNB1
4
Show member pathways
9.7OGG1, MSH2, MSH6
59.5CTNNB1, WNT1, DVL1
6
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
9.5DVL1, WNT1, CTNNB1
79.5ENPP7, SMPD1
89.5AXIN2, CTNNB1, DVL1
9
Show member pathways
9.4CTNNB1, CSNK1E, WNT1
10
Show member pathways
9.4WNT1, CSNK1E, CTNNB1
11
Show member pathways
9.3CTNNB1, WNT1, APC, DVL1
129.3CTNNB1, WNT1, APC, DVL1
139.3CTNNB1, WNT1, APC, DVL1
14
Show member pathways
9.3DVL1, APC, WNT1, CTNNB1
159.3DVL1, APC, WNT1, CTNNB1
169.3DVL1, APC, WNT1, CTNNB1
17
Show member pathways
9.3CTNNB1, CDX2, KLF4
189.1APC, KLF4, CTNNB1, AXIN2
199.1AXIN2, CTNNB1, WNT1, DVL1
20
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
9.0DVL1, ODC1, APC, WNT1, CTNNB1
21
Show member pathways
8.8CTNNB1, CSNK1E, WNT1, APC, DVL1
228.8DVL1, APC, CSNK1E, CTNNB1, AXIN2
238.6DVL1, PTGS2, APC, WNT1, CSNK1E, CTNNB1
248.5CTNNB1, WNT1, APC, APC2, DVL1
25
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
8.4DVL1, APC, WNT1, CSNK1E, CTNNB1, AXIN2
26
Show member pathways
Signal transduction PTEN pathway60
8.3APC2, APC, MSH6, MSH2, CTNNB1, AXIN2
278.2AXIN2, DVL1, PTGS2, APC, MSH6, MSH2
288.2APC, CSNK1E, KLF4, CDX2, CTNNB1, AXIN2
29
Show member pathways
7.6DVL1, APC2, APC, WNT1, CSNK1E, CTNNB1
307.6DVL1, APC2, APC, WNT1, CSNK1E, CTNNB1
31
Show member pathways
Wnt Signaling Pathway NetPath37
7.6DVL1, APC2, APC, WNT1, CSNK1E, CTNNB1
327.3DVL1, PTGS2, APC2, APC, MSH6, MSH2

Compounds for genes affiliated with Familial Adenomatous Polyposis

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Compounds related to Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1af/ap4410.4MUTYH, APC
21-hydroxyanthraquinone4410.4CTNNB1, APC
3methylazoxymethanol acetate4410.4CTNNB1, APC
48-hydroxyguanine4410.3MUTYH, OGG1
58-oxo-dgtp44 2411.3MUTYH, OGG1, NUDT1
68-oxo-dg4410.2OGG1, NUDT1, MUTYH
7exisulind4410.2PTGS2, APC, CTNNB1
8pidotimod4410.2CTNNB1, AXIN2
92-amino-3-methylimidazo(4,5-f)quinoline4410.2APC, CTNNB1
101,2-dimethylhydrazine4410.2CTNNB1, ODC1, APC
11azoxymethane4410.2CTNNB1, APC, ODC1
12mononucleotide4410.2MSH6, MSH2, APC
13n-methyl-n-nitrosourea4410.2MSH2, CTNNB1, MSH6
14o6-methylguanine4410.1MSH2, APC, MSH6
15samp4410.1CTNNB1, AXIN2, APC
16mnng4410.1MSH2, SMPD1, APC
178-oxoguanine4410.1OGG1, MUTYH, NUDT1, APC
18celecoxib44 61 28 50 24 1115.1CTNNB1, PTGS2, APC
19caffeic acid phenethyl ester4410.1ODC1, CTNNB1
20nimesulide44 1111.0CTNNB1, PTGS2
21crcs4410.0APC, MSH6, MSH2, CTNNB1
22guanine44 24 1112.0CTNNB1, APC, MUTYH, OGG1
23lithium44 50 24 1112.9APC, WNT1, CTNNB1
24curcumin449.9ODC1, APC, CTNNB1, PTGS2
25aspirin44 50 28 2412.8CTNNB1, APC, ODC1, PTGS2
26LysoSM(d18:1)249.7SMPD1, ENPP7
27LysoSM(d18:0)249.7ENPP7, SMPD1
28sulindac44 1110.7ODC1, CTNNB1, FMO3, APC, PTGS2
29dopamine44 28 24 1112.7CTNNB1, OGG1, APC, NUDT1, ODC1
30biotin44 24 1111.6CTNNB1, KLF4, MSH2, MSH6
31methionine449.6ODC1, NUDT1, FMO3, SMPD1, APC
32pge2449.5CTNNB1, SMPD1, PTGS2, ODC1, APC
33ornithine44 2410.5KLF4, APC, ODC1
34adenine44 24 1111.5APC, OGG1, MSH2, MUTYH, NUDT1, ODC1
35doxorubicin44 50 1111.5CTNNB1, MSH2, MSH6, ODC1, SMPD1
36mannitol44 1110.4ODC1, OGG1, CTNNB1
37cisplatin44 50 61 1112.4CTNNB1, MUTYH, MSH2, MSH6, PTGS2, SMPD1
38oxygen44 2410.3NUDT1, MUTYH, FMO3, OGG1, SMPD1, PTGS2
39butyrate449.2CTNNB1, CDX2, ODC1, KLF4
40paraffin449.2CDX2, ODC1, APC, CTNNB1, MSH2, MSH6
41glutamate449.1OGG1, ODC1, MSH2, WNT1, CTNNB1
42h2o2449.1DVL1, OGG1, SMPD1, NUDT1, CTNNB1, MUTYH
43thymidine44 2410.1ODC1, CTNNB1, CDX2, OGG1, KLF4
44estrogen449.0CTNNB1, CDX2, WNT1, APC, ODC1, PTGS2
45threonine448.9APC, FMO3, CSNK1E, CTNNB1, AXIN2, MSH6
46glycogen44 249.8APC, CSNK1E, CTNNB1, DVL1, WNT1, AXIN2
47nitric oxide44 24 1110.8SMPD1, PTGS2, ODC1, OGG1, KLF4
48tyrosine448.6WNT1, SMPD1, ODC1, APC, MSH6, CTNNB1
49oligonucleotide448.6CTNNB1, CDX2, OGG1, KLF4, WNT1, SMPD1
50serine448.2SMPD1, ODC1, APC, MSH6, MSH2, CSNK1E

GO Terms for genes affiliated with Familial Adenomatous Polyposis

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Cellular components related to Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:03230110.1MSH2, MSH6
2nuclear chromosomeGO:00022810.0MSH2, MSH6
3lateral plasma membraneGO:0163289.9CTNNB1, APC, DVL1
4beta-catenin destruction complexGO:0308779.9AXIN2, CTNNB1, APC
5catenin complexGO:0163429.5CTNNB1, APC2
6cell cortexGO:0059389.4DVL1, CTNNB1, AXIN2
7cytoplasmic microtubuleGO:0058819.2APC2, APC, AXIN2
8nucleusGO:0056347.5NUDT1, PTGS2, APC, MUTYH, MSH6, KLF4
9cytoplasmGO:0057377.1NUDT1, DVL1, PTGS2, APC2, APC, MSH6

Biological processes related to Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1depurinationGO:04500710.4OGG1, MUTYH
2base-excision repair, AP site formationGO:00628510.3MUTYH, OGG1
3meiotic mismatch repairGO:00071010.3MSH6, MSH2
4somatic recombination of immunoglobulin gene segmentsGO:01644710.3MSH2, MSH6
5positive regulation of helicase activityGO:05109610.3MSH2, MSH6
6negative regulation of DNA recombinationGO:04591010.3MSH2, MSH6
7regulation of centromeric sister chromatid cohesionGO:07060210.2AXIN2, CTNNB1
8embryonic axis specificationGO:00057810.2WNT1, CTNNB1
9determination of adult lifespanGO:00834010.1MSH2, MSH6
10response to estradiolGO:03235510.1PTGS2, OGG1, CTNNB1
11somatic hypermutation of immunoglobulin genesGO:01644610.1MSH2, MSH6
12canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:04433610.1APC, WNT1, CTNNB1
13T cell differentiation in thymusGO:03307710.1CTNNB1, WNT1, APC
14dorsal/ventral axis specificationGO:00995010.1AXIN2, CTNNB1
15isotype switchingGO:04519010.0MSH6, MSH2
16response to oxidative stressGO:00697910.0NUDT1, PTGS2, OGG1
17mismatch repairGO:0062989.9MSH2, MSH6, MUTYH, NUDT1
18maintenance of DNA repeat elementsGO:0435709.9MSH6, MSH2, AXIN2
19cytoplasmic microtubule organizationGO:0311229.9APC, DVL1
20synapse organizationGO:0508089.9CTNNB1, DVL1
21sphingomyelin metabolic processGO:0066849.9SMPD1, ENPP7
22DNA repairGO:0062819.8OGG1, MSH2, MSH6, MUTYH
23positive regulation of apoptotic processGO:0430659.8SMPD1, PTGS2, APC, CTNNB1
24proximal/distal pattern formationGO:0099549.8CTNNB1, APC
25canonical Wnt signaling pathwayGO:0600709.7DVL1, APC, WNT1, CTNNB1
26response to drugGO:0424939.7SMPD1, PTGS2, OGG1, CTNNB1
27ATP catabolic processGO:0062009.6NUDT1, MSH6, MSH2
28negative regulation of catenin import into nucleusGO:0354149.5AXIN2, APC2
29negative regulation of canonical Wnt signaling pathwayGO:0900909.3AXIN2, APC, APC2
30Wnt signaling pathwayGO:0160559.1DVL1, APC2, WNT1, CTNNB1
31positive regulation of transcription, DNA-templatedGO:0458938.9DVL1, WNT1, KLF4, CDX2, CTNNB1
32negative regulation of cell proliferationGO:0082858.7PTGS2, APC, KLF4, ENPP7, CTNNB1, AXIN2
33small molecule metabolic processGO:0442818.6SMPD1, NUDT1, PTGS2, ODC1, FMO3, ENPP7

Molecular functions related to Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:03214310.2MSH2, MSH6
2oxidized purine DNA bindingGO:03235710.2MSH6, MSH2
3single guanine insertion bindingGO:03214210.2MSH6, MSH2
4guanine/thymine mispair bindingGO:03213710.2MSH2, MSH6
5hydrolase activity, acting on glycosyl bondsGO:01679810.1MUTYH, SMPD1
6four-way junction DNA bindingGO:00040010.1MSH6, MSH2
7MutLalpha complex bindingGO:03240510.1MUTYH, MSH6, MSH2
8mismatched DNA bindingGO:0309839.9MSH6, MSH2
9I-SMAD bindingGO:0704119.8CTNNB1, AXIN2
10sphingomyelin phosphodiesterase activityGO:0047679.7ENPP7, SMPD1
11transcription regulatory region DNA bindingGO:0442129.4CTNNB1, KLF4, WNT1
12protein kinase bindingGO:0199019.3DVL1, APC, MSH2, CTNNB1, AXIN2
13enzyme bindingGO:0198999.3AXIN2, CTNNB1, MSH2, PTGS2, DVL1
14beta-catenin bindingGO:0080139.3APC2, APC, AXIN2
15double-stranded DNA bindingGO:0036909.1CTNNB1, CDX2, KLF4, MSH2, MSH6
16microtubule bindingGO:0080178.9OGG1, APC, APC2
17protein bindingGO:0055156.8SMPD1, DVL1, APC2, APC, MUTYH, MSH6

Products for genes affiliated with Familial Adenomatous Polyposis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Adenomatous Polyposis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet