AAPC
MCID: ATT003
MIFTS: 47

Attenuated Familial Adenomatous Polyposis (AAPC) malady

Categories: Rare diseases, Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

Aliases & Descriptions for Attenuated Familial Adenomatous Polyposis:

Name: Attenuated Familial Adenomatous Polyposis 50 56
Attenuated Fap 50 24 56 29
Attenuated Adenomatous Polyposis Coli 50 24 29
Attenuated Familial Polyposis Coli 50 56
Aapc 50 24
Afap 50 56
Familial Adenomatous Polyposis, Attenuated 69
Adenomatous Polyposis Coli, Attenuated 69
Hereditary Flat Adenoma Syndrome 24
Mild Form of Fap 50

Characteristics:

Orphanet epidemiological data:

56
attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:



External Ids:

Orphanet 56 ORPHA220460
MESH via Orphanet 43 C538265
UMLS via Orphanet 70 C2674616
ICD10 via Orphanet 34 D12.6

Summaries for Attenuated Familial Adenomatous Polyposis

NIH Rare Diseases : 50 attenuated familial adenomatous polyposis (afap) is an inherited condition that increases the chance to develop cancer of the large intestine (colon) and rectum. it is a milder form of classic familial adenomatous polyposis (fap) and is characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer (average age 50 to 55 years). other signs and symptoms may include benign or malignant tumors of the duodenum (a section of the small intestine) and, in rare cases, other symptoms of fap. afap is caused by mutations in the apc gene and is inherited in an autosomal dominant manner. afap is generally managed with regular screening to detect if and when polyps develop. last updated: 4/6/2015

MalaCards based summary : Attenuated Familial Adenomatous Polyposis, also known as attenuated fap, is related to colorectal cancer and axin2-related attenuated familial adenomatous polyposis. An important gene associated with Attenuated Familial Adenomatous Polyposis is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Pathways in cancer. The drugs Erythromycin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and testes, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Wikipedia : 71 Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer... more...

Related Diseases for Attenuated Familial Adenomatous Polyposis

Diseases in the Attenuated Familial Adenomatous Polyposis family:

Axin2-Related Attenuated Familial Adenomatous Polyposis Msh3-Related Attenuated Familial Adenomatous Polyposis

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

(show all 43)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 29.1 APC AXIN2 MSH2 MSH6 MUTYH OGG1
2 axin2-related attenuated familial adenomatous polyposis 12.2
3 msh3-related attenuated familial adenomatous polyposis 12.2
4 familial adenomatous polyposis 11.8
5 adenomas, multiple colorectal 11.2
6 adenomatous polyposis coli 11.2
7 familial adenomatous polyposis 3 11.2
8 htr2a-related altered drug metabolism 10.2 APC MUTYH
9 hereditary sensory and autonomic neuropathy with deafness and global delay 10.2 APC MUTYH
10 mitochondrial neurogastrointestinal encephalopathy disease 10.2 APC MUTYH
11 infantile thalamic degeneration 10.2 APC MUTYH
12 glomerulosclerosis, focal segmental, 7 10.2 APC MUTYH
13 gastric cancer, somatic 10.1 APC MUTYH
14 large intestine adenoma 10.1 MSH2 MSH6
15 benign fibrous mesothelioma 10.1 MSH2 MSH6
16 neuropathy, distal hereditary motor, type viib 10.1 MSH2 MSH6
17 cardiomyopathy, dilated, 1r 10.1 MSH2 MSH6
18 churg-strauss syndrome 10.1 MSH2 MSH6
19 cauda equina neoplasm 10.0 MSH2 MSH6
20 neurofibromatosis-noonan syndrome 10.0 MSH2 MSH6
21 cerebrooculofacioskeletal syndrome 2 10.0 APEX1 OGG1
22 rectum adenoma 10.0 APC OGG1
23 ehlers-danlos syndrome, type viic 10.0 APC AXIN2
24 familial hypopituitarism 10.0 APC MSH2 MUTYH
25 neuroretinitis 10.0 MSH2 MSH6
26 ideomotor apraxia 10.0 APC MSH2 MUTYH
27 fibromatosis, gingival, 1 10.0 APC MSH2 MSH6
28 mismatch repair cancer syndrome 10.0 MSH2 MSH6 MUTYH
29 t-cell large granular lymphocyte leukemia 10.0 MSH2 MSH6 MUTYH
30 bladder colonic type adenocarcinoma 10.0 APC MSH2 MUTYH
31 proctitis 9.9 MSH2 MSH6 MUTYH
32 wolffian duct adenoma 9.9 MSH2 MSH6
33 muir-torre syndrome 9.9
34 gastric cancer 9.9
35 adenocarcinoma 9.9
36 adenoma 9.9
37 duodenitis 9.9
38 skin papilloma 9.8 MSH2 MSH6
39 hnrnpa1-related amyotrophic lateral sclerosis 9.8 APC MSH2 MSH6 MUTYH
40 muscular dystrophy-dystroglycanopathy , type b, 2 9.8 APC MSH2 MSH6 MUTYH
41 hidradenoma 9.6 APC MSH2 MSH6 MUTYH OGG1
42 asperger syndrome 9.1 APC AXIN2 MSH2 MSH6 MUTYH NUDT1
43 autoimmune autonomic ganglionopathy 8.9 APC APEX1 AXIN2 MSH2 MSH6 MUTYH

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



Diseases related to Attenuated Familial Adenomatous Polyposis

Symptoms & Phenotypes for Attenuated Familial Adenomatous Polyposis

GenomeRNAi Phenotypes related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 APEX1 MSH2 MSH6 MUTYH NUDT1 OGG1

MGI Mouse Phenotypes related to Attenuated Familial Adenomatous Polyposis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 OGG1 APC APEX1 AXIN2 MSH2 MSH6
2 homeostasis/metabolism MP:0005376 9.8 APC APEX1 MSH2 MSH6 MUTYH NUDT1
3 mortality/aging MP:0010768 9.7 APC APEX1 AXIN2 MSH2 MSH6 MUTYH
4 neoplasm MP:0002006 9.5 APC APEX1 MSH2 MSH6 MUTYH NUDT1
5 nervous system MP:0003631 9.1 APC AXIN2 MSH2 MUTYH NUDT1 OGG1

Drugs & Therapeutics for Attenuated Familial Adenomatous Polyposis

Drugs for Attenuated Familial Adenomatous Polyposis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
2 Gastrointestinal Agents Phase 4
3 Erythromycin Estolate Phase 4
4 Erythromycin Ethylsuccinate Phase 4
5 Erythromycin stearate Phase 4
6 Anti-Bacterial Agents Phase 4
7 Anti-Infective Agents Phase 4
8
Sulindac Approved Phase 2 38194-50-2 5352 1548887
9
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
10
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
11 Analgesics Phase 2
12 Cyclooxygenase Inhibitors Phase 2
13 Analgesics, Non-Narcotic Phase 2
14 Peripheral Nervous System Agents Phase 2
15 Protein Kinase Inhibitors Phase 2
16 Anti-Inflammatory Agents Phase 2
17 Anti-Inflammatory Agents, Non-Steroidal Phase 2
18 Retinol palmitate Phase 2
19 Antirheumatic Agents Phase 2
20 Cola Nutraceutical Phase 2
21 retinol Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Not yet recruiting NCT02354560 Phase 4
3 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2
4 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Not yet recruiting NCT02961374 Phase 2
5 Non-Surgical Management of Attenuated and Deleterious (Classical) Familial Adenomatous Polyposis: A Long-term Surveillance Program Recruiting NCT02747862

Search NIH Clinical Center for Attenuated Familial Adenomatous Polyposis

Genetic Tests for Attenuated Familial Adenomatous Polyposis

Genetic tests related to Attenuated Familial Adenomatous Polyposis:

id Genetic test Affiliating Genes
1 Adenomatous Polyposis Coli, Attenuated 29
2 Attenuated Fap 29 24 APC

Anatomical Context for Attenuated Familial Adenomatous Polyposis

MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

39
Colon, Small Intestine, Testes, Pancreas

Publications for Attenuated Familial Adenomatous Polyposis

Articles related to Attenuated Familial Adenomatous Polyposis:

(show all 43)
id Title Authors Year
1
Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. ( 27081525 )
2015
2
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. ( 24549056 )
2014
3
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis. ( 24790607 )
2014
4
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases. ( 23423322 )
2013
5
Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. ( 23244118 )
2012
6
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature. ( 21813337 )
2012
7
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. ( 21815886 )
2011
8
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. ( 21375864 )
2011
9
Attenuated familial adenomatous polyposis: results from an international collaborative study. ( 20105204 )
2010
10
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. ( 20033787 )
2010
11
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. ( 21078199 )
2010
12
Nine-year follow-up of a patient with attenuated familial adenomatous polyposis treated with cyclo-oxygenase-2 inhibitors. ( 18609144 )
2008
13
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. ( 18640943 )
2008
14
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. ( 18166348 )
2008
15
American founder mutation for attenuated familial adenomatous polyposis. ( 18063416 )
2008
16
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. ( 17410430 )
2007
17
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. ( 17143620 )
2007
18
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. ( 18091433 )
2007
19
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. ( 17489848 )
2007
20
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. ( 18186383 )
2007
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
Variation of a variation: case report of attenuated familial adenomatous polyposis. ( 18333267 )
2006
24
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. ( 16207212 )
2005
25
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. ( 16253019 )
2005
26
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. ( 15623495 )
2005
27
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. ( 15941485 )
2005
28
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. ( 15300576 )
2004
29
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. ( 14574166 )
2003
30
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. ( 12740351 )
2003
31
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. ( 12519375 )
2003
32
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. ( 12394442 )
2002
33
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. ( 11786778 )
2002
34
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. ( 12135043 )
2002
35
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis? ( 12164972 )
2002
36
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. ( 11766074 )
2001
37
Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. ( 11321399 )
2001
38
Giant fundic polyp complicating attenuated familial adenomatous polyposis. ( 10925993 )
2000
39
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. ( 10924409 )
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

Variations for Attenuated Familial Adenomatous Polyposis

Expression for Attenuated Familial Adenomatous Polyposis

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

Pathways for Attenuated Familial Adenomatous Polyposis

Pathways related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 APEX1 MSH2 MSH6 MUTYH OGG1
2 12.27 APC AXIN2 MSH2 MSH6
3
Show member pathways
12.17 APEX1 MSH2 MSH6 OGG1
4
Show member pathways
11.81 APC AXIN2 MSH2 MSH6
5 11.49 APEX1 MSH2 MSH6 MUTYH NUDT1
6 11.47 APC AXIN2 MSH2 MSH6
7 11.23 APC AXIN2
8 11.16 MSH2 MSH6
9
Show member pathways
11.12 APEX1 MSH2
10 10.92 MSH2 MSH6
11 10.81 APC AXIN2
12
Show member pathways
10.28 MUTYH OGG1

GO Terms for Attenuated Familial Adenomatous Polyposis

Cellular components related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.76 APC APEX1 AXIN2 MSH2 MSH6 MUTYH
2 nucleoplasm GO:0005654 9.73 APC APEX1 MSH2 MSH6 MUTYH OGG1
3 beta-catenin destruction complex GO:0030877 8.96 APC AXIN2
4 MutSalpha complex GO:0032301 8.62 MSH2 MSH6

Biological processes related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.7 APEX1 NUDT1 OGG1
2 cellular response to DNA damage stimulus GO:0006974 9.63 APC APEX1 MSH2 MSH6 MUTYH OGG1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.55 MSH2 MSH6
4 positive regulation of cell death GO:0010942 9.54 APC AXIN2
5 isotype switching GO:0045190 9.51 MSH2 MSH6
6 base-excision repair GO:0006284 9.5 APEX1 MUTYH OGG1
7 somatic hypermutation of immunoglobulin genes GO:0016446 9.49 MSH2 MSH6
8 determination of adult lifespan GO:0008340 9.48 MSH2 MSH6
9 negative regulation of DNA recombination GO:0045910 9.46 MSH2 MSH6
10 positive regulation of helicase activity GO:0051096 9.43 MSH2 MSH6
11 mismatch repair GO:0006298 9.43 MSH2 MSH6 MUTYH
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.4 MSH2 MSH6
13 depurination GO:0045007 9.37 MUTYH OGG1
14 maintenance of DNA repeat elements GO:0043570 9.13 AXIN2 MSH2 MSH6
15 DNA repair GO:0006281 9.1 APEX1 MSH2 MSH6 MUTYH NUDT1 OGG1

Molecular functions related to Attenuated Familial Adenomatous Polyposis according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 ADP binding GO:0043531 9.49 MSH2 MSH6
2 four-way junction DNA binding GO:0000400 9.48 MSH2 MSH6
3 DNA-(apurinic or apyrimidinic site) lyase activity GO:0003906 9.46 APEX1 OGG1
4 DNA N-glycosylase activity GO:0019104 9.43 MUTYH OGG1
5 mismatched DNA binding GO:0030983 9.4 MSH2 MSH6
6 guanine/thymine mispair binding GO:0032137 9.37 MSH2 MSH6
7 oxidized purine DNA binding GO:0032357 9.33 MSH2 MSH6 OGG1
8 single guanine insertion binding GO:0032142 9.32 MSH2 MSH6
9 single thymine insertion binding GO:0032143 9.26 MSH2 MSH6
10 damaged DNA binding GO:0003684 9.26 APEX1 MSH2 MSH6 OGG1
11 MutLalpha complex binding GO:0032405 8.8 MSH2 MSH6 MUTYH

Sources for Attenuated Familial Adenomatous Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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