AAPC
MCID: ATT003
MIFTS: 44

Attenuated Familial Adenomatous Polyposis (AAPC) malady

Genetic category

Summaries for Attenuated Familial Adenomatous Polyposis

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43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Attenuated familial adenomatous polyposis (afap) is a cancer predisposition syndrome characterized by a significant risk to develop colon cancer. individuals with afap generally have fewer colon polyps (an average of 30) than in classic fap, and the polyps tend to occur more proximally in the colon. the average age of colon cancer diagnosis in affected individuals is 50 to 55 years, which is 10 to 15 years later than in those with classic fap, but earlier than when colon cancer occurs in the general population. in addition to colon polyps, findings may include upper gastrointestinal polyps and cancers; non-intestine related signs of fap (but chrpe and desmoid tumors are rare); and thyroid cancer. afap is caused by mutations in the apc gene and is inherited in an autosomal dominant manner. last updated: 12/16/2011

MalaCards: Attenuated Familial Adenomatous Polyposis, also known as attenuated fap, is related to familial adenomatous polyposis and adenoma. An important gene associated with Attenuated Familial Adenomatous Polyposis is MUTYH (mutY homolog), and among its related pathways are Colorectal Cancer Metastasis and Busulfan Pathway, Pharmacodynamics. The compounds guanine and oxygen have been mentioned in the context of this disorder. Affiliated tissues include colon, pancreas and thyroid, and related mouse phenotypes are homeostasis/metabolism and integument.

Wikipedia:64 Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer... more...

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

attenuated familial adenomatous polyposis 43
attenuated fap 43 20 22
attenuated adenomatous polyposis coli 43 22
familial adenomatous polyposis, attenuated 61
attenuated familial polyposis coli 43
aapc 43
afap 43


Related Diseases for Attenuated Familial Adenomatous Polyposis

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17GeneCards, 18GeneDecks
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Diseases related to Attenuated Familial Adenomatous Polyposis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1familial adenomatous polyposis31.6PTGS2, OGG1, MSH2, MSH6, NUDT1, MUTYH
2adenoma31.6OGG1, APC, APEX1, CTNNB1, MUTYH, NUDT1
3muir-torre syndrome30.4MSH2, MSH6
4familial colorectal cancer30.4APC, MSH6, MSH2
5adenocarcinoma30.4OGG1, APC, APEX1, CTNNB1, MSH6, MSH2
6colorectal cancer30.4OGG1, APC, APEX1, CTNNB1, MUTYH, NUDT1
7papillary adenoma10.3
8pancreatic adenoma10.3
9adenomas, multiple colorectal10.3
10ectodermal dysplasia10.1
11gallbladder cancer10.0APC
12thyroid cancer10.0APC
13juvenile polyposis syndrome10.0APC
14intestinal neoplasm10.0APC
15ischemia10.0APEX1
16pituitary tumors10.0APC
17esophageal cancer10.0PTGS2
18gastritis10.0PTGS2
19keratoacanthoma10.0MSH2
20endometriosis10.0PTGS2
21malignant glioma10.0MSH2
22uterine carcinosarcoma10.0PTGS2
23sarcoma10.0MSH2
24gastric cancer, somatic10.0MUTYH, APC
25astrocytoma10.0MSH2
26cholangiocarcinoma10.0OGG1, PTGS2
27rheumatoid arthritis10.0PTGS2, APEX1
28turcot syndrome10.0MSH2, MSH6
29peutz-jeghers syndrome10.0CTNNB1, APC
30acute leukemia10.0OGG1, MSH2
31lynch syndrome10.0MSH2, MSH6
32desmoid tumor10.0APC, CTNNB1
33medulloblastoma10.0APC, CTNNB1
34gardner syndrome10.0APC, CTNNB1
35fibromatosis10.0APC, CTNNB1
36hepatocellular adenoma10.0CTNNB1, APC
37hepatoblastoma10.0APC, CTNNB1
38neurofibromatosis10.0MSH2, MSH6
39cervical cancer10.0PTGS2, MSH2, APEX1
40ulcerative colitis10.0MSH2, APEX1, APC
41barrett's esophagus10.0APC, PTGS2
42adrenal adenoma10.0CTNNB1, APC
43brain cancer10.0APC, MSH6, MSH2
44bladder carcinoma10.0OGG1, APEX1, PTGS2
45skin benign neoplasm10.0MSH6, MSH2
46gastric adenocarcinoma10.0APC, CTNNB1, PTGS2
47rectum cancer10.0APC, MUTYH, MSH6, MSH2
48breast cancer10.0APC, CTNNB1, PTGS2
49skin cancer10.0PTGS2, MSH2, OGG1
50leukemia10.0OGG1, APEX1, NUDT1, MSH2

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



Diseases related to attenuated familial adenomatous polyposis

Clinical Features for Attenuated Familial Adenomatous Polyposis

Drugs & Therapeutics for Attenuated Familial Adenomatous Polyposis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Attenuated Familial Adenomatous Polyposis

Drug clinical trials:

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Genetic Tests for Attenuated Familial Adenomatous Polyposis

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20GeneTests, 22GTR
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Genetic tests related to Attenuated Familial Adenomatous Polyposis:

id Genetic test Affiliating Genes
1 Attenuated Fap20 22
2 Adenomatous Polyposis Coli, Attenuated22

Anatomical Context for Attenuated Familial Adenomatous Polyposis

Sources:
33MalaCards
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MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

33
Colon, Pancreas, Thyroid

Animal Models for Attenuated Familial Adenomatous Polyposis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Attenuated Familial Adenomatous Polyposis

Sources:
51PubMed
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Articles related to Attenuated Familial Adenomatous Polyposis:

(show all 44)
idTitleAuthorsYear
1
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases. (23423322)
2013
2
Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. (23244118)
2012
3
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature. (21813337)
2012
4
Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). (21368914)
2011
5
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (21815886)
2011
6
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. (21375864)
2011
7
Attenuated familial adenomatous polyposis: results from an international collaborative study. (20105204)
2010
8
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. (20033787)
2010
9
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. (21078199)
2010
10
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. (18640943)
2008
11
Nine-year follow-up of a patient with attenuated familial adenomatous polyposis treated with cyclo-oxygenase-2 inhibitors. (18609144)
2008
12
Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72. (19036155)
2008
13
American founder mutation for attenuated familial adenomatous polyposis. (18063416)
2008
14
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. (18166348)
2008
15
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (18091433)
2007
16
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. (17410430)
2007
17
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. (18186383)
2007
18
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. (17489848)
2007
19
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. (17143620)
2007
20
Variation of a variation: case report of attenuated familial adenomatous polyposis. (18333267)
2006
21
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. (16461775)
2006
22
Gastric carcinogenesis after long-term observation of clinical course without any treatment in a patient with attenuated familial adenomatous polyposis. (16873575)
2006
23
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. (16253019)
2005
24
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. (15941485)
2005
25
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. (16207212)
2005
26
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. (15623495)
2005
27
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. (15300576)
2004
28
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. (14574166)
2003
29
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. (12519375)
2003
30
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. (12740351)
2003
31
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. (11786778)
2002
32
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. (12135043)
2002
33
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis? (12164972)
2002
34
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. (11867715)
2002
35
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. (12394442)
2002
36
Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. (11321399)
2001
37
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. (11766074)
2001
38
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. (10924409)
2000
39
Giant fundic polyp complicating attenuated familial adenomatous polyposis. (10925993)
2000
40
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. (10494086)
1999
41
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. (9603437)
1998
42
Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein. (8655134)
1996
43
Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. (8625067)
1995
44
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. (8593545)
1995

Genetic Variations for Attenuated Familial Adenomatous Polyposis

Expression for genes affiliated with Attenuated Familial Adenomatous Polyposis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Attenuated Familial Adenomatous Polyposis

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

Pathways for genes affiliated with Attenuated Familial Adenomatous Polyposis

Sources:
52QIAGEN, 50PharmGKB, 12EMD Millipore, 54Reactome, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Attenuated Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6MSH6, APC
29.4MSH2, APEX1
3
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
9.3MSH2, MSH6
4
Hide members
9.3MUTYH, APEX1, OGG1
5
Hide members
9.3MUTYH, APEX1, OGG1
6
Hide members
9.3MUTYH, APEX1, OGG1
7
Hide members
9.3CTNNB1, APC
89.3APC, CTNNB1
98.8PTGS2, CTNNB1, APC
108.8PTGS2, CTNNB1, APC
11
Hide members
8.8APC, CTNNB1, PTGS2
12
Hide members
8.6APEX1, MUTYH, MSH6, MSH2
138.5CTNNB1, MSH6, MSH2
14
Hide members
8.5OGG1, APEX1, MSH6, MSH2
15
Hide members
8.1APC, CTNNB1, MSH6, MSH2
167.6APC, CTNNB1, MSH6, MSH2, PTGS2

Compounds for genes affiliated with Attenuated Familial Adenomatous Polyposis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Attenuated Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
1guanine45 11 2412.6MUTYH
2oxygen45 2411.3OGG1
3af/ap4510.2APC, MUTYH
48-hydroxyguanine4510.1MUTYH, OGG1
52-deoxyribonolactone4510.0APEX1, OGG1
6dihydrouracil45 2411.0APEX1, OGG1
7thymine glycol4510.0APEX1, OGG1
88-oxo-dgtp45 2410.8NUDT1, MUTYH, OGG1
9phosphodiester459.8OGG1, APEX1
10piroxicam45 1110.8APC, PTGS2
11methylazoxymethanol acetate459.7APC, CTNNB1
121-hydroxyanthraquinone459.7APC, CTNNB1
13purine nucleoside459.7NUDT1, OGG1
14samp459.7CTNNB1, APC
15pyrimidine45 2410.7OGG1, APEX1, MUTYH
161,2-dimethylhydrazine459.7CTNNB1, APC
17thymine45 2410.7APEX1, APC, OGG1
18methylmethanesulfonate459.6OGG1, APC, APEX1
19azoxymethane459.6CTNNB1, APC
20purine45 2410.6OGG1, APEX1, NUDT1
21mnng459.6MSH2, APC
22cytosine45 2410.6APEX1, APC, OGG1
232-amino-3-methylimidazo(4,5-f)quinoline459.6CTNNB1, APC
24sodium bisulfite459.5APC, CTNNB1
25benzene459.5APEX1, OGG1
26nimesulide45 1110.4PTGS2, CTNNB1
27mononucleotide459.4MSH2, MSH6, APC
288-oxo-dg459.4NUDT1, MUTYH, APEX1, OGG1
29etodolac45 1110.4CTNNB1, PTGS2
30phip459.3CTNNB1, APC
31rofecoxib45 50 29 1112.3CTNNB1, PTGS2
32exisulind459.2PTGS2, CTNNB1, APC
33sulindac45 1110.2APC, CTNNB1, PTGS2
34celecoxib45 60 29 50 11 2414.1PTGS2, CTNNB1, APC
35dopamine45 29 11 2412.1OGG1, APC, CTNNB1
36mannitol45 1110.1CTNNB1, APEX1, OGG1
378-oxoguanine459.0NUDT1, MUTYH, APEX1, APC, OGG1
38curcumin459.0PTGS2, CTNNB1, APC
39o6-methylguanine459.0APC, APEX1, MSH6, MSH2
40n-methyl-n-nitrosourea458.9CTNNB1, MSH6, MSH2
41biotin45 11 2410.8MSH2, MSH6, CTNNB1
42aspirin45 50 29 2411.8APC, CTNNB1, PTGS2
43crcs458.6APC, CTNNB1, MSH6, MSH2
44h2o2458.5NUDT1, MUTYH, CTNNB1, APEX1, OGG1
45adenine45 11 2410.4OGG1, APC, APEX1, MUTYH, NUDT1, MSH2
46paraffin458.2APC, APEX1, CTNNB1, MSH6, MSH2
47atp45 299.1OGG1, APEX1, CTNNB1, NUDT1, MSH2
48oligonucleotide458.1CTNNB1, APEX1, APC, OGG1
49cisplatin45 50 60 1111.0APEX1, CTNNB1, MSH6, MSH2, PTGS2
50serine457.6OGG1, APC, APEX1, CTNNB1, MSH6, MSH2

GO Terms for genes affiliated with Attenuated Familial Adenomatous Polyposis

Sources:
16Gene Ontology
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Cellular components related to Attenuated Familial Adenomatous Polyposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:0323019.4MSH2, MSH6
2beta-catenin destruction complexGO:0308779.3CTNNB1, APC
3lateral plasma membraneGO:0163289.3CTNNB1, APC
4nuclear chromosomeGO:0002289.2MSH6, MSH2
5cell-cell adherens junctionGO:0059139.0CTNNB1, APC

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1depurinationGO:04500710.0OGG1, MUTYH
2base-excision repair, AP site formationGO:0062859.9MUTYH, OGG1
3meiotic mismatch repairGO:0007109.6MSH2, MSH6
4base-excision repairGO:0062849.6MUTYH, APEX1, OGG1
5positive regulation of helicase activityGO:0510969.6MSH6, MSH2
6maintenance of DNA repeat elementsGO:0435709.6MSH6, MSH2
7somatic recombination of immunoglobulin gene segmentsGO:0164479.6MSH6, MSH2
8negative regulation of DNA recombinationGO:0459109.6MSH2, MSH6
9somatic hypermutation of immunoglobulin genesGO:0164469.5MSH2, MSH6
10determination of adult lifespanGO:0083409.4MSH6, MSH2
11isotype switchingGO:0451909.4MSH2, MSH6
12response to oxidative stressGO:0069799.4OGG1, NUDT1, PTGS2
13mismatch repairGO:0062989.3MUTYH, MSH6, MSH2
14proximal/distal pattern formationGO:0099549.3CTNNB1, APC
15thymus developmentGO:0485389.3CTNNB1, APC
16T cell differentiation in thymusGO:0330779.2APC, CTNNB1
17response to estradiol stimulusGO:0323559.0PTGS2, CTNNB1, OGG1
18response to drugGO:0424938.5OGG1, APEX1, CTNNB1, PTGS2
19positive regulation of apoptotic processGO:0430658.5PTGS2, CTNNB1, APC
20DNA repairGO:0062818.1MSH2, MSH6, NUDT1, MUTYH, APEX1, OGG1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:0321439.6MSH2, MSH6
2oxidized purine DNA bindingGO:0323579.6MSH6, MSH2
3endonuclease activityGO:0045199.6OGG1, APEX1, MUTYH
4single guanine insertion bindingGO:0321429.6MSH6, MSH2
5four-way junction DNA bindingGO:0004009.5MSH2, MSH6
6guanine/thymine mispair bindingGO:0321379.5MSH2, MSH6
7mismatched DNA bindingGO:0309839.4MSH2, MSH6
8cadherin bindingGO:0452969.3CTNNB1, APC
9ADP bindingGO:0435319.3MSH2, MSH6
10MutLalpha complex bindingGO:0324059.3MSH2, MSH6, MUTYH
11DNA-dependent ATPase activityGO:0080949.0MSH2, MSH6
12double-stranded DNA bindingGO:0036908.7CTNNB1, MSH6, MSH2
13protein kinase bindingGO:0199018.7MSH2, CTNNB1, APC
14enzyme bindingGO:0198998.4CTNNB1, MSH2, PTGS2

Products for genes affiliated with Attenuated Familial Adenomatous Polyposis

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Sources for Attenuated Familial Adenomatous Polyposis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet