AAPC
MCID: ATT003
MIFTS: 41

Attenuated Familial Adenomatous Polyposis (AAPC) malady

Genetic diseases category

Summaries for Attenuated Familial Adenomatous Polyposis

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 muir-torre syndrome. 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 and thyroid, and related mouse phenotypes are homeostasis/metabolism and integument.

Wikipedia:63 Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer... more...

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

About this section
Sources:
42NIH Rare Diseases, 22GTR, 20GeneTests, 60UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

attenuated familial adenomatous polyposis 42
attenuated fap 42 20 22
attenuated adenomatous polyposis coli 42 22
familial adenomatous polyposis, attenuated 60
attenuated familial polyposis coli 42
aapc 42
afap 42


Related Diseases for Attenuated Familial Adenomatous Polyposis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1familial adenomatous polyposis31.6MUTYH, MSH6, NUDT1, PTGS2, MSH2, CTNNB1
2muir-torre syndrome30.4MSH2, MSH6
3colon cancer30.4PTGS2, MSH2, MSH6, CTNNB1, APC
4adenocarcinoma30.4MSH6, PTGS2, CTNNB1, APEX1, APC, OGG1
5adenoma30.4CTNNB1, MSH2, MSH6, NUDT1, MUTYH, PTGS2
6colorectal cancer30.4MSH6, OGG1, APC, APEX1, CTNNB1, MUTYH
7duodenitis10.3
8adenomas, multiple colorectal10.3
9gallbladder cancer10.0APC
10thyroid cancer10.0APC
11juvenile polyposis syndrome10.0APC
12intestinal neoplasm10.0APC
13ischemia10.0APEX1
14pituitary tumors10.0APC
15esophageal cancer10.0PTGS2
16gastritis10.0PTGS2
17keratoacanthoma10.0MSH2
18endometriosis10.0PTGS2
19malignant glioma10.0MSH2
20uterine carcinosarcoma10.0PTGS2
21sarcoma10.0MSH2
22gastric cancer, somatic10.0MUTYH, APC
23astrocytoma10.0MSH2
24cholangiocarcinoma10.0PTGS2, OGG1
25rheumatoid arthritis10.0APEX1, PTGS2
26turcot syndrome10.0MSH2, MSH6
27peutz-jeghers syndrome10.0APC, CTNNB1
28acute leukemia10.0OGG1, MSH2
29desmoid tumor10.0APC, CTNNB1
30lynch syndrome10.0MSH6, MSH2
31medulloblastoma10.0APC, CTNNB1
32gardner syndrome10.0CTNNB1, APC
33fibromatosis10.0CTNNB1, APC
34hepatocellular adenoma10.0APC, CTNNB1
35hepatoblastoma10.0CTNNB1, APC
36barrett's esophagus10.0PTGS2, APC
37neurofibromatosis10.0MSH2, MSH6
38familial colorectal cancer10.0APC, MSH6, MSH2
39cervical cancer10.0MSH2, APEX1, PTGS2
40ulcerative colitis10.0APC, MSH2, APEX1
41adrenal adenoma10.0APC, CTNNB1
42brain cancer10.0MSH2, MSH6, APC
43bladder carcinoma10.0OGG1, PTGS2, APEX1
44rectal neoplasm10.0MSH2, MSH6, MUTYH, APC
45gastric adenocarcinoma10.0CTNNB1, APC, PTGS2
46breast cancer10.0CTNNB1, PTGS2, APC
47leukemia10.0NUDT1, OGG1, APEX1, MSH2
48lung cancer10.0PTGS2, OGG1, APEX1
49melanoma10.0CTNNB1, MSH2, APEX1
50skin benign neoplasm10.0MSH6, 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

About this section

Drugs & Therapeutics for Attenuated Familial Adenomatous Polyposis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Attenuated Familial Adenomatous Polyposis

Drug clinical trials:

Search ClinicalTrials for Attenuated Familial Adenomatous Polyposis

Search NIH Clinical Center for Attenuated Familial Adenomatous Polyposis

Search CenterWatch for Attenuated Familial Adenomatous Polyposis

Genetic Tests for Attenuated Familial Adenomatous Polyposis

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

32
Colon, Thyroid

Animal Models for Attenuated Familial Adenomatous Polyposis or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Attenuated Familial Adenomatous Polyposis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.4APEX1, MUTYH, MSH6
2MP:00107718.5APC, CTNNB1, PTGS2
3MP:00020068.4MSH2, MSH6, NUDT1, CTNNB1
4MP:00053707.9OGG1, APC, APEX1, CTNNB1, PTGS2
5MP:00028737.9PTGS2, CTNNB1, APEX1, APC, OGG1
6MP:00053977.2PTGS2, MSH2, NUDT1, CTNNB1, APC, OGG1
7MP:00036317.1OGG1, APC, CTNNB1, MUTYH, NUDT1, MSH2
8MP:00053877.0OGG1, APC, APEX1, CTNNB1, NUDT1, MSH2
9MP:00107686.6OGG1, APC, APEX1, CTNNB1, MUTYH, MSH6
10MP:00053846.3OGG1, APC, APEX1, CTNNB1, MUTYH, NUDT1

Publications for Attenuated Familial Adenomatous Polyposis

About this section

Genetic Variations for Attenuated Familial Adenomatous Polyposis

About this section

Expression for genes affiliated with Attenuated Familial Adenomatous Polyposis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51QIAGEN, 49PharmGKB, 12EMD Millipore, 53Reactome, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology
See all sources

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6APC, MSH6
29.4APEX1, MSH2
3
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
9.3MSH6, MSH2
4
Hide members
9.3APEX1, MUTYH, OGG1
5
Hide members
9.3APEX1, OGG1, MUTYH
6
Hide members
9.3OGG1, APEX1, MUTYH
7
Hide members
9.3APC, CTNNB1
89.3APC, CTNNB1
9
Hide members
8.8PTGS2, APC, CTNNB1
108.8PTGS2, CTNNB1, APC
118.8CTNNB1, APC, PTGS2
12
Hide members
8.6MSH2, APEX1, MUTYH, MSH6
138.5MSH6, MSH2, CTNNB1
14
Hide members
8.5MSH6, APEX1, OGG1, MSH2
15
Hide members
8.1APC, CTNNB1, MSH6, MSH2
167.6CTNNB1, APC, MSH6, MSH2, PTGS2

Compounds for genes affiliated with Attenuated Familial Adenomatous Polyposis

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
See all sources

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

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
1guanine44 11 2412.6MUTYH
2oxygen44 2411.3OGG1
3af/ap4410.2APC, MUTYH
48-hydroxyguanine4410.1MUTYH, OGG1
52-deoxyribonolactone4410.0APEX1, OGG1
6dihydrouracil44 2411.0APEX1, OGG1
7thymine glycol4410.0APEX1, OGG1
88-oxo-dgtp44 2410.8NUDT1, MUTYH, OGG1
9phosphodiester449.8OGG1, APEX1
10piroxicam44 1110.8APC, PTGS2
11methylazoxymethanol acetate449.7APC, CTNNB1
121-hydroxyanthraquinone449.7APC, CTNNB1
13purine nucleoside449.7NUDT1, OGG1
14samp449.7CTNNB1, APC
15pyrimidine44 2410.7OGG1, APEX1, MUTYH
161,2-dimethylhydrazine449.7CTNNB1, APC
17thymine44 2410.7APEX1, APC, OGG1
18methylmethanesulfonate449.6OGG1, APC, APEX1
19azoxymethane449.6CTNNB1, APC
20purine44 2410.6OGG1, APEX1, NUDT1
21mnng449.6MSH2, APC
22cytosine44 2410.6APEX1, APC, OGG1
232-amino-3-methylimidazo(4,5-f)quinoline449.6CTNNB1, APC
24sodium bisulfite449.5APC, CTNNB1
25benzene449.5APEX1, OGG1
26nimesulide44 1110.4PTGS2, CTNNB1
27mononucleotide449.4MSH2, MSH6, APC
288-oxo-dg449.4NUDT1, MUTYH, APEX1, OGG1
29etodolac44 1110.4CTNNB1, PTGS2
30phip449.3CTNNB1, APC
31rofecoxib44 49 28 1112.3CTNNB1, PTGS2
32exisulind449.2PTGS2, CTNNB1, APC
33sulindac44 1110.2APC, CTNNB1, PTGS2
34celecoxib44 59 28 49 11 2414.1PTGS2, CTNNB1, APC
35dopamine44 28 11 2412.1OGG1, APC, CTNNB1
36mannitol44 1110.1CTNNB1, APEX1, OGG1
378-oxoguanine449.0NUDT1, MUTYH, APEX1, APC, OGG1
38curcumin449.0PTGS2, CTNNB1, APC
39o6-methylguanine449.0APC, APEX1, MSH6, MSH2
40n-methyl-n-nitrosourea448.9CTNNB1, MSH6, MSH2
41biotin44 11 2410.8MSH2, MSH6, CTNNB1
42aspirin44 49 28 2411.8APC, CTNNB1, PTGS2
43crcs448.6APC, CTNNB1, MSH6, MSH2
44h2o2448.5NUDT1, MUTYH, CTNNB1, APEX1, OGG1
45adenine44 11 2410.4OGG1, APC, APEX1, MUTYH, NUDT1, MSH2
46paraffin448.2APC, APEX1, CTNNB1, MSH6, MSH2
47atp44 289.1OGG1, APEX1, CTNNB1, NUDT1, MSH2
48oligonucleotide448.1CTNNB1, APEX1, APC, OGG1
49cisplatin44 49 59 1111.0APEX1, CTNNB1, MSH6, MSH2, PTGS2
50serine447.6OGG1, APC, APEX1, CTNNB1, MSH6, MSH2

GO Terms for genes affiliated with Attenuated Familial Adenomatous Polyposis

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Attenuated Familial Adenomatous Polyposis

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet