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

Summaries for Familial Adenomatous Polyposis

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Genetics Home Reference:22 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 adenomatous colonic polyposis, intestinal polyposis and duodenal polyposis. 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 methylazoxymethanol acetate 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:9 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

OMIM:46 Familial adenomatous polyposis is an autosomal dominant disorder characterized by predisposition to cancer. Affected... (175100) more...

Wikipedia:64 Familial adenomatous polyposis (FAP) is an inherited condition in which numerous adenomatous polyps form... more...

Description from OMIM:46 608456

Aliases & Classifications for Familial Adenomatous Polyposis

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Sources:
9Disease Ontology, 64Wikipedia, 42NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 23GTR, 46OMIM, 34MeSH, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Familial Adenomatous Polyposis, Aliases & Descriptions:

Name: Familial Adenomatous Polyposis 9 64 42 21 22 11 44 48 61
Adenomatous Polyposis Coli 64 42 23 22 46 61
Adenomatous Polyposis of the Colon 9 64 42 61
Fap 64 42 22 48
Familial Multiple Polyposis 42 23 61
Familial Adenomatous Polyposis of the Colon 42 61
Attenuated Familial Adenomatous Polyposis 48 61
Familial Multiple Polyposis Syndrome 22 61
Familial Polyposis of the Colon 42 61
Familial Intestinal Polyposis 42 61
Hereditary Polyposis Coli 64 42
Myh-Associated Polyposis 22 61
Gardner Syndrome 48 61
Afap 48 61
Apc-Related Attenuated Familial Adenomatous Polyposis 48
 
Apc-Related Attenuated Familial Polyposis Coli 48
Adenomatous Familial Polyposis Syndrome 22
Attenuated Familial Polyposis Coli 48
Polyposis, Adenomatous Intestinal 42
Colorectal Adenomatous Polyposis 48
Turcot Syndrome with Polyposis 48
Adenomatous Familial Polyposis 22
Atrial Premature Complexes 61
Apc-Related Attenuated Fap 48
Familial Polyposis Coli 48
Colon Cancer, Familial 64
Apc-Related Afap 48
Polyposis Coli 64
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 Ontology9 DOID:0050424
MeSH34 D011125
MESH via Orphanet35 D011125, C538265, D005736
ICD10 via Orphanet27 D12.6
UMLS via Orphanet62 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 syndrome31.5MSH6, MSH2
4lynch syndrome31.5MSH6, MSH2
5hepatocellular adenoma31.5CTNNB1, APC
6hepatoblastoma31.3AXIN2, CTNNB1, APC
7medulloblastoma31.1APC, CTNNB1
8fibromatosis31.1CTNNB1, APC
9peutz-jeghers syndrome31.0CTNNB1, APC
10juvenile polyposis syndrome31.0APC
11muir-torre syndrome31.0MSH6, MSH2
12gastric cancer, somatic30.9APC, MUTYH
13familial colorectal cancer30.8MSH2, MSH6, APC
14lung cancer30.6CDX2, OGG1, ODC1, PTGS2
15stomach cancer30.6CDX2
16breast cancer30.4ODC1, MSH6, MSH2, WNT1, CDX2, CTNNB1
17colorectal cancer30.4PTGS2, ODC1, APC, CTNNB1, CDX2, ENPP7
18lung adenocarcinoma30.3CTNNB1, CDX2, OGG1, PTGS2
19barrett's esophagus30.3CDX2, APC, ODC1, PTGS2
20adenocarcinoma30.1PTGS2, ODC1, APC, MSH6, MSH2, KLF4
21gastric adenocarcinoma30.1PTGS2, ODC1, APC, KLF4, CDX2, CTNNB1
22non-small cell lung carcinoma30.1PTGS2, ODC1, APC, OGG1, CDX2, CTNNB1
23leukemia29.6SMPD1, NUDT1, ODC1, MSH2, KLF4, OGG1
24pancreatic cancer29.5PTGS2, MSH2, WNT1, KLF4, CDX2, CTNNB1
25adenoma29.4CDX2, ENPP7, OGG1, KLF4, FMO3, MSH2
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 UMLS61/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 Polyposis21
2 Adenomatous Polyposis Coli23
3 Familial Multiple Polyposis Syndrome23

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:

63 (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:

7 (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 pathogenic, 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 Receptor59
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 I59
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 pathway59
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/ap4410.5APC, MUTYH
2methylazoxymethanol acetate4410.4APC, CTNNB1
31-hydroxyanthraquinone4410.4APC, CTNNB1
48-hydroxyguanine4410.3MUTYH, OGG1
58-oxo-dgtp44 2511.3NUDT1, MUTYH, OGG1
6exisulind4410.2PTGS2, APC, CTNNB1
78-oxo-dg4410.2NUDT1, MUTYH, OGG1
8pidotimod4410.2CTNNB1, AXIN2
91,2-dimethylhydrazine4410.2ODC1, APC, CTNNB1
10azoxymethane4410.2ODC1, APC, CTNNB1
112-amino-3-methylimidazo(4,5-f)quinoline4410.2CTNNB1, APC
12mononucleotide4410.2MSH2, MSH6, APC
13n-methyl-n-nitrosourea4410.2MSH6, MSH2, CTNNB1
14o6-methylguanine4410.1APC, MSH6, MSH2
15caffeic acid phenethyl ester4410.1CTNNB1, ODC1
16samp4410.1AXIN2, CTNNB1, APC
17mnng4410.1SMPD1, APC, MSH2
188-oxoguanine4410.1NUDT1, APC, MUTYH, OGG1
19celecoxib44 60 29 50 25 1215.1PTGS2, APC, CTNNB1
20nimesulide44 1211.0CTNNB1, PTGS2
21crcs4410.0CTNNB1, MSH2, MSH6, APC
22guanine44 25 1212.0CTNNB1, OGG1, MUTYH, APC
23lithium44 50 25 1212.9CTNNB1, WNT1, APC
24curcumin449.9PTGS2, ODC1, APC, CTNNB1
25aspirin44 50 29 2512.8PTGS2, ODC1, APC, CTNNB1
26LysoSM(d18:1)259.7SMPD1, ENPP7
27LysoSM(d18:0)259.7SMPD1, ENPP7
28sulindac44 1210.7CTNNB1, FMO3, APC, ODC1, PTGS2
29dopamine44 29 25 1212.7NUDT1, ODC1, APC, OGG1, CTNNB1
30biotin44 25 1211.6MSH6, MSH2, KLF4, CTNNB1
31methionine449.6SMPD1, NUDT1, ODC1, APC, FMO3
32pge2449.5SMPD1, PTGS2, ODC1, APC, CTNNB1
33ornithine44 2510.5ODC1, APC, KLF4
34adenine44 25 1211.5NUDT1, ODC1, APC, MUTYH, MSH2, OGG1
35doxorubicin44 50 1211.5CTNNB1, MSH2, MSH6, ODC1, SMPD1
36mannitol44 1210.4CTNNB1, OGG1, ODC1
37cisplatin44 50 60 1212.4SMPD1, PTGS2, MUTYH, MSH6, MSH2, CTNNB1
38oxygen44 2510.3OGG1, FMO3, MUTYH, PTGS2, NUDT1, SMPD1
39butyrate449.2CTNNB1, CDX2, KLF4, ODC1
40paraffin449.2ODC1, APC, MSH6, MSH2, CDX2, CTNNB1
41glutamate449.1MSH2, WNT1, OGG1, CTNNB1, ODC1
42h2o2449.1SMPD1, NUDT1, DVL1, ODC1, MUTYH, OGG1
43thymidine44 2510.1ODC1, KLF4, OGG1, CDX2, CTNNB1
44estrogen449.0PTGS2, ODC1, APC, WNT1, CDX2, CTNNB1
45threonine448.9APC, MSH6, CSNK1E, FMO3, CTNNB1, AXIN2
46glycogen44 259.8DVL1, APC, WNT1, CSNK1E, CTNNB1, AXIN2
47nitric oxide44 25 1210.8SMPD1, PTGS2, ODC1, KLF4, OGG1
48tyrosine448.6SMPD1, ODC1, APC, MSH6, WNT1, CDX2
49oligonucleotide448.6SMPD1, APC, WNT1, KLF4, OGG1, CDX2
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Familial Adenomatous Polyposis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet