FAP
MCID: FML011
MIFTS: 85

Familial Adenomatous Polyposis (FAP) malady

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

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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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: Familial Adenomatous Polyposis, also known as adenomatous polyposis coli, is related to desmoid tumor and adenoma, and has symptoms including central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer, irregular/in bands/reticular skin hyperpigmentation and delayed dentition/eruption of teeth/lack of eruption of teeth. An important gene associated with Familial Adenomatous Polyposis is APC (adenomatous polyposis coli), and among its related pathways are Resolution of Abasic Sites (AP sites) and Depurination. 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 liver/biliary system and hearing/vestibular/ear.

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:43 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...

Description from OMIM:47 175100,608456

Aliases & Classifications for Familial Adenomatous Polyposis

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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 22GTR, 47OMIM, 62UMLS, 35MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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


Aliases & Descriptions:

familial adenomatous polyposis 8 65 43 20 21 10 45 49
adenomatous polyposis coli 65 43 22 21 47 62
fap 65 43 21 49
adenomatous polyposis of the colon 8 65 43
familial multiple polyposis 43 22
hereditary polyposis coli 65 43
myh-associated polyposis 21 62
gardner syndrome 49 62
apc-related attenuated familial adenomatous polyposis 49
apc-related attenuated familial polyposis coli 49
familial adenomatous polyposis of the colon 43
familial adenomatous polyposis, attenuated 62
attenuated familial adenomatous polyposis 49
adenomatous familial polyposis syndrome 21
familial multiple polyposis syndrome 21
attenuated familial polyposis coli 49
polyposis, adenomatous intestinal 43
colorectal adenomatous polyposis 49
familial polyposis of the colon 43
adenomatous familial polyposis 21
turcot syndrome with polyposis 49
familial intestinal polyposis 43
atrial premature complexes 62
apc-related attenuated fap 49
familial polyposis coli 49
colon cancer, familial 65
apc-related afap 49
polyposis coli 65
attenuated fap 49
afap 49
fpc 43


External Ids:

Disease Ontology8 DOID:0050424
MeSH35 D011125
ICD10 via Orphanet26 D12.6
UMLS via Orphanet63 C0032580, C2674616, C0017097
SNOMED-CT via Orphanet59 72900001, 70921007, 60876000
MESH via Orphanet36 D011125, C538265, D005736

Related Diseases for Familial Adenomatous Polyposis

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17GeneCards, 18GeneDecks
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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 176)
idRelated DiseaseScoreTop Affiliating Genes
1desmoid tumor31.6APC, CTNNB1
2adenoma31.2NUDT1, SMPD1, AXIN2, MUTYH, ODC1, APC
3colorectal cancer31.2PTGS2, CTNNB1, MUTYH, OGG1, MSH2, MSH6
4adenocarcinoma31.1OGG1, PTGS2, CTNNB1, ODC1, MSH2, MSH6
5hepatoblastoma31.1APC, CTNNB1, AXIN2
6lynch syndrome31.1MSH6, MSH2
7turcot syndrome31.0MSH6, MSH2
8gardner syndrome31.0APC, CTNNB1
9hepatocellular adenoma31.0CTNNB1, APC
10breast cancer30.9MSH6, MSH2, ODC1, CTNNB1, WNT1
11fibromatosis30.8APC, CTNNB1
12lung cancer30.8OGG1, ODC1, PTGS2
13peutz-jeghers syndrome30.7CTNNB1, APC
14hepatocellular carcinoma30.7APC, MUTYH, WNT1, CTNNB1, PTGS2, OGG1
15colon cancer30.6MSH2, PTGS2, ODC1, APC, AXIN2, MSH6
16gastric adenocarcinoma30.6APC, CTNNB1, PTGS2, ODC1
17medulloblastoma30.6CTNNB1, APC
18stomach cancer30.6MUTYH, APC
19juvenile polyposis syndrome30.6APC
20gastric cancer, somatic30.5MUTYH, APC
21muir-torre syndrome30.4MSH2, MSH6
22familial colorectal cancer30.4APC, MSH6, MSH2
23barrett's esophagus30.4PTGS2, ODC1, APC
24lung adenocarcinoma30.4OGG1, CTNNB1, PTGS2
25leukemia30.2OGG1, MSH2, ODC1, NUDT1, SMPD1
26sarcoma30.2WNT1, MSH2, ODC1
27neurofibromatosis30.1MSH2, MSH6
28pancreatic cancer30.1WNT1, CTNNB1, PTGS2, MSH2
29attenuated familial adenomatous polyposis11.1
30duodenitis11.0
31thyroiditis10.9
32ulcerative colitis10.9
33colorectal adenoma10.7
34papillary thyroid carcinoma10.6
35pancreatitis10.6
36thyroid cancer10.6
37pouchitis10.6
38polyneuropathy10.6
39neuronitis10.5
40nasopharyngitis10.5
41mutyh-associated polyposis10.5
42familial adenomatous polyposis due to 5q22.2 microdeletion10.5
43crohn's disease10.5
44acute pancreatitis10.5
45gastroduodenitis10.5
46papillary carcinoma10.5
47duodenal disease10.5
48inflammatory bowel disease10.5
49retinitis10.5
50blindness10.5

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

175100

Clinical features from OMIM:

175100,608456

Symptoms:

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

Drugs & Therapeutics for Familial Adenomatous Polyposis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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-RT41:

Genetic Tests for Familial Adenomatous Polyposis

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Familial Adenomatous Polyposis:

33
Colon, Thyroid, Testes, Skin, Pancreas, Bone, Eye, Small intestine, Lung, Brain, Spleen, Liver, Testis

Animal Models for Familial Adenomatous Polyposis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Adenomatous Polyposis:

37 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5SMPD1, PTGS2, APC, OGG1, CTNNB1
2MP:00053778.5CTNNB1, WNT1, APC, DVL1
3MP:00020068.3NUDT1, PTGS2, APC, MUTYH, MSH6, MSH2
4MP:00028737.8DVL1, PTGS2, ODC1, APC, OGG1, CTNNB1
5MP:00053767.8SMPD1, NUDT1, PTGS2, APC, MUTYH, MSH6
6MP:00053907.6DVL1, PTGS2, APC, WNT1, CTNNB1, AXIN2
7MP:00053977.5SMPD1, NUDT1, PTGS2, APC, MSH2, WNT1
8MP:00053807.4DVL1, PTGS2, ODC1, APC, WNT1, CTNNB1
9MP:00053877.3SMPD1, NUDT1, PTGS2, APC, MSH2, WNT1
10MP:00053867.2SMPD1, NUDT1, DVL1, PTGS2, APC, WNT1
11MP:00036316.2SMPD1, NUDT1, DVL1, PTGS2, APC, MUTYH
12MP:00053846.0AXIN2, SMPD1, NUDT1, PTGS2, ODC1, APC
13MP:00107685.7APC, ODC1, PTGS2, DVL1, SMPD1, MUTYH

Publications for Familial Adenomatous Polyposis

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52PubMed
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Articles related to Familial Adenomatous Polyposis:

(show top 50)    (show all 727)
idTitleAuthorsYear
1
Desmoid tumour biology in patients with familial adenomatous polyposis coli. (23334997)
2013
2
Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial. (23919274)
2013
3
Screening and Health Behaviors among Persons Diagnosed with Familial Adenomatous Polyposis and Their Relatives. (22899922)
2012
4
Severe duodenal involvement in familial adenomatous polyposis treated by pylorus-preserving pancreaticoduodenectomy. (22311120)
2012
5
A De Novo Germline APC Mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review. (23115482)
2012
6
Imaging assessment of desmoid tumours in familial adenomatous polyposis: is state-of-the-art 1.5 T MRI better than 64-MDCT? (22215881)
2012
7
Perinatal detection of familial adenomatous polyposis. (22825279)
2012
8
Surgical treatment of familial adenomatous polyposis: experience from a single institution in China. (22897208)
2012
9
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP). (22103048)
2011
10
Modified multivisceral transplantation with spleen-preserving pancreaticoduodenectomy for patients with familial adenomatous polyposis "Gardner's Syndrome". (21512435)
2011
11
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. (20924072)
2011
12
Prevalence of gastric and duodenal polyps and risk factors for duodenal neoplasm in korean patients with familial adenomatous polyposis. (21461071)
2011
13
Attenuated familial adenomatous polyposis: results from an international collaborative study. (20105204)
2010
14
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. (20033787)
2010
15
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
16
Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis. (21059714)
2010
17
Familial adenomatous polyposis-associated ampullary adenoma: response to chemotherapy for concurrent metastatic adenocarcinoma. (19245848)
2009
18
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. (19444466)
2009
19
Novel cell culture model for prevention of carcinogenic risk in familial adenomatous polyposis syndrome. (19288003)
2009
20
Rectal and pouch recurrences after surgical treatment for familial adenomatous polyposis. (18766422)
2009
21
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
22
Chromoendoscopy, narrow-band imaging colonoscopy, and autofluorescence colonoscopy for detection of diminutive colorectal neoplasia in familial adenomatous polyposis. (19581862)
2009
23
Magnified endoscopic observation using narrow-band imaging of periampullary adenoma in a patient with familial adenomatous polyposis. (19946237)
2009
24
Familial adenomatous polyposis in children younger than age ten years: a multidisciplinary clinic experience. (18157572)
2008
25
Is capsule endoscopy safe and useful for small-bowel surveillance in patients with familial adenomatous polyposis? (18607405)
2008
26
Adenocarcinoma arising in the ileoanal pouch after restorative proctocolectomy for familial adenomatous polyposis. (18030481)
2008
27
A papillary thyroid carcinoma case associated with hereditary colon carcinoma due to familial adenomatous polyposis with no hereditary mutation finding. (15834731)
2007
28
Deletion mutation of BRAF in a serrated adenoma from a patient with familial adenomatous polyposis. (17696956)
2007
29
Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). (17486639)
2007
30
Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. (17355417)
2007
31
The role of chromoendoscopy in the surveillance of the duodenum of patients with familial adenomatous polyposis. (17406831)
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1 (show all 40)
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
4MUTYHNM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp)single nucleotide variantPathogenicrs200844166GRCh37Chr 1, 45796912: 45796912
5MUTYHNM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys)single nucleotide variantLikely pathogenic, Pathogenicrs200495564GRCh37Chr 1, 45798118: 45798118
6MUTYHNM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys)single nucleotide variantPathogenicrs34612342GRCh37Chr 1, 45798475: 45798475
7MUTYHNM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp)single nucleotide variantPathogenicrs36053993GRCh37Chr 1, 45797228: 45797228
8MUTYHNM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs)deletionPathogenicGRCh37Chr 1, 45796869: 45796869
9MUTYHNM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter)single nucleotide variantPathogenicrs121908380GRCh37Chr 1, 45799121: 45799121
10MUTYHNM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter)single nucleotide variantPathogenicrs121908381GRCh37Chr 1, 45796892: 45796892
11APCNM_000038.5(APC): c.730_731delAG (p.Arg244Valfs)deletionPathogenicrs387906228GRCh37Chr 5, 112136976: 112136977
12APCNM_000038.5(APC): c.1369delT (p.Ser457Hisfs)deletionPathogenicrs387906229GRCh37Chr 5, 112157649: 112157649
13APCNM_000038.5(APC): c.1500T> G (p.Tyr500Ter)single nucleotide variantPathogenicrs387906230GRCh37Chr 5, 112162896: 112162896
14APCNM_000038.5(APC): c.1240C> T (p.Arg414Cys)single nucleotide variantPathogenic, Uncertain significancers137854567GRCh37Chr 5, 112154969: 112154969
15APCNM_000038.5(APC): c.904C> T (p.Arg302Ter)single nucleotide variantPathogenicrs137854568GRCh37Chr 5, 112151261: 112151261
16APCNM_000038.5(APC): c.509_512delATAG (p.Asp170Valfs)deletionPathogenicrs387906231GRCh37Chr 5, 112111412: 112111415
17APCNM_000038.5(APC): c.1069dupA (p.Ile357Asnfs)duplicationPathogenicrs387906232GRCh37Chr 5, 112154798: 112154799
18APCNM_000038.5(APC): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs137854572GRCh37Chr 5, 112163698: 112163698
19APCNM_000038.5(APC): c.1660C> T (p.Arg554Ter)single nucleotide variantPathogenicrs137854573GRCh37Chr 5, 112164586: 112164586
20APCNM_000038.5(APC): c.1690C> T (p.Arg564Ter)single nucleotide variantPathogenicrs137854574GRCh37Chr 5, 112164616: 112164616
21APCNM_000038.5(APC): c.1885_1886insA (p.Leu629Tyrfs)insertionPathogenicrs387906233GRCh37Chr 5, 112170789: 112170790
22APCNM_000038.5(APC): c.2805C> A (p.Tyr935Ter)single nucleotide variantPathogenicrs137854575GRCh37Chr 5, 112174096: 112174096
23APCNM_000038.5(APC): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs137854576GRCh37Chr 5, 112111373: 112111373
24APCNM_000038.5(APC): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs137854577GRCh37Chr 5, 112116598: 112116598
25NM_001127510.2: c.1959-640_*64188del71402deletionPathogenicGRCh37Chr 5, 112172610: 112244011
26APCNM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs)deletionPathogenicrs121913224GRCh37Chr 5, 112175218: 112175222
27APCNM_000038.5(APC): c.5942delA (p.Asn1981Ilefs)deletionPathogenicrs397509433GRCh37Chr 5, 112177233: 112177233
28APCNM_000038.5(APC): c.5582_5585delCTTT (p.Ser1861Terfs)deletionPathogenicGRCh38Chr 5, 112841176: 112841179
29APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significance, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
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.3949G> C (p.Glu1317Gln)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significancers1801166GRCh37Chr 5, 112175240: 112175240
35APCNM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs)deletionPathogenicrs387906239GRCh37Chr 5, 112154666: 112154667
36APCAPC deletiondeletionPathogenicGRCh38Chr 5, 112707504: 112846240
37APCNM_000038.5(APC): c.423-1G> Asingle nucleotide variantPathogenicrs397514031GRCh37Chr 5, 112111325: 112111325
38APCAPC, 11-BP INS, NT1060insertionPathogenic
39APCNM_000038.5: c.(?_1959)_*(2113_?)deldeletionPathogenic
40APCAPC, 5-BP DEL, NT3221deletionPathogenic

Expression for genes affiliated with Familial Adenomatous Polyposis

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 55Reactome, 30KEGG, 60Thomson Reuters, 51PharmGKB, 38NCBI BioSystems Database, 5Cell Signaling Technology, 53QIAGEN, 61Tocris Bioscience, 54R&D Systems
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Pathways related to Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9MUTYH, OGG1
2
Show member pathways
9.9MUTYH, OGG1
39.8MSH2, MSH6
4
Show member pathways
Catalytic cycle of mammalian FMOs38
9.7FMO3, MSH2
59.6CTNNB1, APC, PTGS2
6
Show member pathways
9.5MSH2, MSH6, MUTYH
79.5CTNNB1, MSH2, MSH6
8
Show member pathways
9.5MSH6, MSH2, OGG1
99.4AXIN2, CTNNB1, APC
109.4APC, CTNNB1, AXIN2
11
Show member pathways
9.4WNT1, CTNNB1
129.0AXIN2, CTNNB1, DVL1
138.8DVL1, APC, CTNNB1, AXIN2
14
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
8.7CTNNB1, WNT1, DVL1
158.7DVL1, WNT1, CTNNB1
16
Show member pathways
Signal transduction PTEN pathway60
8.7AXIN2, CTNNB1, MSH2, MSH6, APC
178.5CTNNB1, WNT1, APC, DVL1
18
Show member pathways
8.5DVL1, APC, WNT1, CTNNB1
198.5DVL1, APC, WNT1, CTNNB1
208.5DVL1, APC, WNT1, CTNNB1
21
Show member pathways
8.5DVL1, APC, WNT1, CTNNB1
228.5CTNNB1, WNT1, APC, DVL1
23
Show member pathways
8.5CTNNB1, WNT1, APC, DVL1
248.5CTNNB1, WNT1, APC, DVL1
258.2DVL1, WNT1, CTNNB1, AXIN2
26
Show member pathways
8.2CTNNB1, WNT1, APC, PTGS2, DVL1
278.2DVL1, PTGS2, APC, WNT1, CTNNB1
28
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.1CTNNB1, WNT1, APC, ODC1, DVL1
29
Show member pathways
Wnt Signaling Pathway NetPath38
8.0AXIN2, CTNNB1, WNT1, APC, DVL1
30
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
8.0AXIN2, CTNNB1, WNT1, APC, DVL1
31
Show member pathways
8.0DVL1, APC, WNT1, CTNNB1, AXIN2
328.0DVL1, APC, WNT1, CTNNB1, AXIN2
336.9DVL1, PTGS2, APC, MSH6, MSH2, WNT1
346.9AXIN2, DVL1, PTGS2, APC, MSH6, MSH2

Compounds for genes affiliated with Familial Adenomatous Polyposis

About this section
Sources:
45Novoseek, 24HMDB, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 11DrugBank
See all sources

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

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1af/ap4510.4APC, MUTYH
2methylazoxymethanol acetate4510.3CTNNB1, APC
31-hydroxyanthraquinone4510.3APC, CTNNB1
48-hydroxyguanine4510.3OGG1, MUTYH
52-amino-3-methylimidazo(4,5-f)quinoline4510.2CTNNB1, APC
68-oxo-dgtp45 2411.1OGG1, NUDT1, MUTYH
78-oxo-dg4510.1NUDT1, MUTYH, OGG1
8exisulind4510.1PTGS2, APC, CTNNB1
9pidotimod4510.0AXIN2, CTNNB1
10caffeic acid phenethyl ester4510.0CTNNB1, ODC1
11celecoxib45 61 29 51 24 1114.9PTGS2, APC, CTNNB1
121,2-dimethylhydrazine459.9APC, ODC1, CTNNB1
13mononucleotide459.9APC, MSH6, MSH2
14azoxymethane459.9ODC1, APC, CTNNB1
15o6-methylguanine459.9MSH2, MSH6, APC
16n-methyl-n-nitrosourea459.9MSH2, CTNNB1, MSH6
17nimesulide45 1110.9CTNNB1, PTGS2
18samp459.9APC, CTNNB1, AXIN2
198-oxoguanine459.9MUTYH, OGG1, APC, NUDT1
20mnng459.8SMPD1, MSH2, APC
21biotin45 24 1111.7MSH6, MSH2, CTNNB1
22guanine45 24 1111.7MUTYH, OGG1, APC, CTNNB1
23crcs459.7MSH6, APC, CTNNB1, MSH2
24mannitol45 1110.6CTNNB1, OGG1, ODC1
25resveratrol45 61 24 1112.6PTGS2, ODC1, CTNNB1
26adriamycin459.5ODC1, OGG1, CTNNB1
27curcumin459.5PTGS2, ODC1, APC, CTNNB1
28aspirin45 51 29 2412.5PTGS2, CTNNB1, ODC1, APC
29gtp45 2910.5NUDT1, ODC1, APC, CTNNB1
30lithium45 51 24 1112.4APC, WNT1, CTNNB1
31egcg459.4CTNNB1, ODC1, PTGS2
32glutamine459.4ODC1, OGG1, CTNNB1, APC
33dopamine45 29 24 1112.3ODC1, OGG1, CTNNB1, APC, NUDT1
34sulindac45 1110.2APC, PTGS2, ODC1, FMO3, CTNNB1
35paraffin459.2CTNNB1, ODC1, MSH6, MSH2, APC
36pge2459.0APC, ODC1, PTGS2, CTNNB1, SMPD1
37adenine45 24 1111.0NUDT1, MUTYH, APC, ODC1, OGG1, MSH2
38methionine459.0ODC1, SMPD1, NUDT1, APC, FMO3
39threonine459.0FMO3, CTNNB1, AXIN2, APC, MSH6
40doxorubicin45 51 1110.9MSH6, ODC1, MSH2, CTNNB1, SMPD1
41cisplatin45 51 61 1111.8PTGS2, MUTYH, MSH6, MSH2, CTNNB1, SMPD1
42oxygen45 249.8OGG1, NUDT1, PTGS2, SMPD1, MUTYH, FMO3
43atp45 299.6NUDT1, MSH2, SMPD1, CTNNB1, OGG1
44oligonucleotide458.6WNT1, OGG1, APC, CTNNB1, SMPD1
45glutamate458.5OGG1, ODC1, MSH2, WNT1, CTNNB1
46estrogen458.4PTGS2, ODC1, APC, WNT1, CTNNB1
47glycogen45 249.4APC, AXIN2, WNT1, DVL1, CTNNB1
48h2o2458.2OGG1, MUTYH, ODC1, DVL1, CTNNB1, SMPD1
49serine457.9MSH6, ODC1, SMPD1, APC, MSH2, OGG1
50tyrosine457.5CTNNB1, WNT1, MSH6, APC, ODC1, SMPD1

GO Terms for genes affiliated with Familial Adenomatous Polyposis

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:0323019.9MSH2, MSH6
2nuclear chromosomeGO:0002289.7MSH6, MSH2
3cell-cell adherens junctionGO:0059139.7CTNNB1, APC
4beta-catenin destruction complexGO:0308779.6AXIN2, CTNNB1, APC
5lateral plasma membraneGO:0163289.4DVL1, APC, CTNNB1
6cell cortexGO:0059389.1AXIN2, CTNNB1, DVL1
7nucleusGO:0056347.9PTGS2, APC, MUTYH, MSH6, OGG1, CTNNB1
8cytoplasmGO:0057377.1NUDT1, DVL1, PTGS2, APC, MSH6, WNT1

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1depurinationGO:04500710.3MUTYH, OGG1
2base-excision repair, AP site formationGO:00628510.2OGG1, MUTYH
3meiotic mismatch repairGO:00071010.1MSH6, MSH2
4somatic recombination of immunoglobulin gene segmentsGO:01644710.1MSH2, MSH6
5positive regulation of helicase activityGO:05109610.1MSH2, MSH6
6negative regulation of DNA recombinationGO:04591010.1MSH6, MSH2
7proximal/distal pattern formationGO:00995410.1CTNNB1, APC
8regulation of centromeric sister chromatid cohesionGO:07060210.0CTNNB1, AXIN2
9determination of adult lifespanGO:00834010.0MSH2, MSH6
10somatic hypermutation of immunoglobulin genesGO:01644610.0MSH2, MSH6
11isotype switchingGO:04519010.0MSH2, MSH6
12thymus developmentGO:04853810.0CTNNB1, APC
13dorsal/ventral axis specificationGO:00995010.0AXIN2, CTNNB1
14response to estradiolGO:0323559.9PTGS2, OGG1, CTNNB1
15response to oxidative stressGO:0069799.9NUDT1, PTGS2, OGG1
16cytoplasmic microtubule organizationGO:0311229.8APC, DVL1
17ATP catabolic processGO:0062009.7NUDT1, MSH6, MSH2
18embryonic axis specificationGO:0005789.7CTNNB1, WNT1
19synapse organizationGO:0508089.6CTNNB1, DVL1
20mismatch repairGO:0062989.6MSH2, MSH6, MUTYH, NUDT1
21bone mineralizationGO:0302829.6PTGS2, AXIN2
22maintenance of DNA repeat elementsGO:0435709.6MSH6, MSH2, AXIN2
23base-excision repairGO:0062849.6OGG1, MUTYH
24DNA repairGO:0062819.6MUTYH, MSH6, MSH2, OGG1
25canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:0443369.5APC, WNT1, CTNNB1
26T cell differentiation in thymusGO:0330779.5CTNNB1, WNT1, APC
27positive regulation of apoptotic processGO:0430659.4CTNNB1, APC, PTGS2, SMPD1
28response to drugGO:0424939.4SMPD1, PTGS2, OGG1, CTNNB1
29negative regulation of cell proliferationGO:0082859.4PTGS2, APC, CTNNB1, AXIN2
30Wnt signaling pathwayGO:0160558.9DVL1, WNT1, CTNNB1
31canonical Wnt signaling pathwayGO:0600708.9DVL1, APC, WNT1, CTNNB1
32small molecule metabolic processGO:0442818.4SMPD1, NUDT1, PTGS2, ODC1, FMO3

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:03214310.0MSH6, MSH2
2single guanine insertion bindingGO:03214210.0MSH2, MSH6
3oxidized purine DNA bindingGO:03235710.0MSH2, MSH6
4cadherin bindingGO:04529610.0CTNNB1, APC
5guanine/thymine mispair bindingGO:03213710.0MSH6, MSH2
6four-way junction DNA bindingGO:00040010.0MSH2, MSH6
7hydrolase activity, acting on glycosyl bondsGO:0167989.9MUTYH, SMPD1
8mismatched DNA bindingGO:0309839.9MSH6, MSH2
9I-SMAD bindingGO:0704119.9CTNNB1, AXIN2
10MutLalpha complex bindingGO:0324059.8MSH2, MSH6, MUTYH
11ADP bindingGO:0435319.8MSH6, MSH2
12DNA-dependent ATPase activityGO:0080949.7MSH2, MSH6
13double-stranded DNA bindingGO:0036909.6CTNNB1, MSH2, MSH6
14frizzled bindingGO:0051099.0WNT1, DVL1
15signal transducer activityGO:0048718.7AXIN2, CTNNB1, DVL1
16protein kinase bindingGO:0199018.7AXIN2, CTNNB1, MSH2, APC, DVL1
17enzyme bindingGO:0198998.7DVL1, PTGS2, MSH2, CTNNB1, AXIN2
18protein bindingGO:0055157.1SMPD1, DVL1, APC, MUTYH, MSH6, MSH2

Products for genes affiliated with Familial Adenomatous Polyposis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Adenomatous Polyposis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet