MCID: ATT003
MIFTS: 45

Attenuated Familial Adenomatous Polyposis

Categories: Rare diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

MalaCards integrated aliases for Attenuated Familial Adenomatous Polyposis:

Name: Attenuated Familial Adenomatous Polyposis 53 59
Adenomatous Polyposis Coli, Attenuated 29 6 73
Attenuated Fap 53 59 29
Attenuated Familial Polyposis Coli 53 59
Afap 53 59
Familial Adenomatous Polyposis, Attenuated 73
Attenuated Adenomatous Polyposis Coli 53
Mild Form of Fap 53
Aapc 53

Characteristics:

Orphanet epidemiological data:

59
attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA220460
MESH via Orphanet 45 C538265
UMLS via Orphanet 74 C2674616
ICD10 via Orphanet 34 D12.6

Summaries for Attenuated Familial Adenomatous Polyposis

NIH Rare Diseases : 53 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.

MalaCards based summary : Attenuated Familial Adenomatous Polyposis, also known as adenomatous polyposis coli, attenuated, is related to familial adenomatous polyposis and mutyh-associated polyposis. An important gene associated with Attenuated Familial Adenomatous Polyposis is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Pathways in cancer and DNA Double-Strand Break Repair. 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

Related Diseases for Attenuated Familial Adenomatous Polyposis

Diseases in the Attenuated Familial Adenomatous Polyposis family:

Axin2-Related Attenuated Familial Adenomatous Polyposis

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 31.7 APC MSH2 MSH6 MUTYH
2 mutyh-associated polyposis 30.5 APC MUTYH
3 adenoma 29.5 APC MSH2 MUTYH
4 muir-torre syndrome 29.4 MSH2 MSH6 MUTYH
5 colorectal cancer 27.4 APC MSH2 MSH6 MUTYH OGG1
6 axin2-related attenuated familial adenomatous polyposis 12.3
7 familial adenomatous polyposis 1 11.3
8 familial adenomatous polyposis 2 11.3
9 familial adenomatous polyposis 3 11.3
10 familial adenomatous polyposis 4 11.3
11 polyposis syndrome, hereditary mixed, 1 10.4 APC MUTYH
12 hyperplastic polyposis syndrome 10.4 APC MUTYH
13 juvenile polyposis syndrome 10.2 APC MUTYH
14 appendix carcinoid tumor 10.1 MSH2 MSH6
15 adenosquamous colon carcinoma 10.1 MSH2 MSH6
16 sebaceous adenoma 10.1 MSH2 MSH6
17 small intestine cancer 10.1 MSH2 MUTYH
18 colon adenoma 10.1 APC OGG1
19 lynch syndrome i 10.1 MSH2 MSH6
20 legius syndrome 10.0 MSH2 MSH6
21 cecum adenocarcinoma 10.0 MSH2 MSH6
22 sebaceous adenocarcinoma 10.0 MSH2 MSH6
23 xeroderma pigmentosum, complementation group d 9.9 APEX1 OGG1
24 skin benign neoplasm 9.9 MSH2 MSH6
25 polyposis, gastric 9.9
26 polyposis of gastric fundus without polyposis coli 9.9
27 gastric cancer 9.9
28 adenocarcinoma 9.9
29 duodenitis 9.9
30 colorectal adenocarcinoma 9.9 MSH2 MSH6
31 intestinal benign neoplasm 9.8 APC MSH2 MUTYH
32 familial colorectal cancer 9.8 APC MSH2 MUTYH
33 rectal neoplasm 9.8 MSH2 MUTYH
34 colorectal adenoma 9.8 APC MSH2 MUTYH
35 female reproductive organ cancer 9.8 MSH2 MSH6
36 mismatch repair cancer syndrome 9.7 APC MSH2 MSH6
37 autosomal genetic disease 9.6 MSH2 MSH6 MUTYH
38 gastrointestinal system cancer 9.6 MSH2 MSH6 MUTYH
39 autosomal dominant disease 9.6 MSH2 MSH6
40 endometrial cancer 8.9 MSH2 MSH6 MUTYH
41 lynch syndrome 8.5 APC MSH2 MSH6 MUTYH OGG1

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
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 NUDT1 OGG1 APC APEX1 MSH2 MSH6
2 homeostasis/metabolism MP:0005376 9.7 APC APEX1 MSH2 MSH6 MUTYH NUDT1
3 immune system MP:0005387 9.43 APC APEX1 MSH2 MSH6 NUDT1 OGG1
4 neoplasm MP:0002006 9.17 APC APEX1 MSH2 MSH6 MUTYH NUDT1

Drugs & Therapeutics for Attenuated Familial Adenomatous Polyposis

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2 Gastrointestinal Agents Phase 4
3 Anti-Bacterial Agents Phase 4
4 Erythromycin Estolate Phase 4
5 Erythromycin Ethylsuccinate Phase 4
6 Erythromycin stearate Phase 4
7 Anti-Infective Agents Phase 4
8
Sulindac Approved, Investigational 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 Retinol palmitate Phase 2
13 Cyclooxygenase Inhibitors Phase 2
14 Analgesics, Non-Narcotic Phase 2
15 Peripheral Nervous System Agents Phase 2
16 Protein Kinase Inhibitors Phase 2
17 Anti-Inflammatory Agents Phase 2
18 Anti-Inflammatory Agents, Non-Steroidal Phase 2
19 Antirheumatic Agents Phase 2
20 Cola Nutraceutical Phase 2
21 retinol Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Unknown status NCT02354560 Phase 4 Erythromycin
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4 Erythromycin
3 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
4 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Recruiting NCT02961374 Phase 2 Erlotinib Hydrochloride
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:

# Genetic test Affiliating Genes
1 Adenomatous Polyposis Coli, Attenuated 29
2 Attenuated Fap 29

Anatomical Context for Attenuated Familial Adenomatous Polyposis

MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

41
Colon, Small Intestine, Testes, Pancreas

Publications for Attenuated Familial Adenomatous Polyposis

Articles related to Attenuated Familial Adenomatous Polyposis:

(show all 50)
# Title Authors Year
1
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. ( 28891849 )
2017
2
Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. ( 27081525 )
2015
3
Clinical Utility Gene Card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014. ( 25248397 )
2014
4
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis. ( 24790607 )
2014
5
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. ( 24549056 )
2014
6
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases. ( 23423322 )
2013
7
A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. ( 23838596 )
2013
8
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature. ( 21813337 )
2012
9
Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. ( 23244118 )
2012
10
Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). ( 21368914 )
2011
11
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. ( 21815886 )
2011
12
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. ( 21375864 )
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
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. ( 21078199 )
2010
16
Large intron 14 rearrangement in APC results in splice defect and attenuated FAP. ( 20033212 )
2010
17
American founder mutation for attenuated familial adenomatous polyposis. ( 18063416 )
2008
18
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. ( 18166348 )
2008
19
Nine-year follow-up of a patient with attenuated familial adenomatous polyposis treated with cyclo-oxygenase-2 inhibitors. ( 18609144 )
2008
20
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. ( 18640943 )
2008
21
Colorectal cancer surveillance behaviors among members of typical and attenuated FAP families. ( 17266693 )
2007
22
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. ( 17410430 )
2007
23
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. ( 18186383 )
2007
24
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. ( 17143620 )
2007
25
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. ( 18091433 )
2007
26
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. ( 17489848 )
2007
27
Gastric carcinogenesis after long-term observation of clinical course without any treatment in a patient with attenuated familial adenomatous polyposis. ( 16873575 )
2006
28
Variation of a variation: case report of attenuated familial adenomatous polyposis. ( 18333267 )
2006
29
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. ( 16461775 )
2006
30
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. ( 16207212 )
2005
31
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. ( 15941485 )
2005
32
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. ( 16253019 )
2005
33
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. ( 15623495 )
2005
34
Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype. ( 15131404 )
2004
35
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. ( 15300576 )
2004
36
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. ( 12519375 )
2003
37
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. ( 12740351 )
2003
38
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. ( 14574166 )
2003
39
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. ( 12394442 )
2002
40
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. ( 11786778 )
2002
41
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. ( 12135043 )
2002
42
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis? ( 12164972 )
2002
43
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. ( 11766074 )
2001
44
Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. ( 11321399 )
2001
45
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. ( 10924409 )
2000
46
Giant fundic polyp complicating attenuated familial adenomatous polyposis. ( 10925993 )
2000
47
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. ( 10494086 )
1999
48
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. ( 9603437 )
1998
49
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
50
Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. ( 8625067 )
1995

Variations for Attenuated Familial Adenomatous Polyposis

ClinVar genetic disease variations for Attenuated Familial Adenomatous Polyposis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GALNT12 NM_024642.4(GALNT12): c.907G> A (p.Asp303Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145236923 GRCh38 Chromosome 9, 98831947: 98831947
2 GALNT12 NM_024642.4(GALNT12): c.907G> A (p.Asp303Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145236923 GRCh37 Chromosome 9, 101594229: 101594229

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 11)
# Super pathways Score Top Affiliating Genes
1 12.39 APC MSH2 MSH6
2
Show member pathways
12.36 APEX1 MSH2 MSH6 MUTYH OGG1
3
Show member pathways
12.17 APEX1 MSH2 MSH6 OGG1
4 11.72 APC MSH2 MSH6
5 11.49 APEX1 MSH2 MSH6 MUTYH NUDT1
6
Show member pathways
11.4 MSH2 MSH6
7 11.32 MSH2 MSH6
8 11.1 MSH2 MSH6
9
Show member pathways
11.05 APEX1 MSH2
10 10.83 MSH2 MSH6
11
Show member pathways
10.11 MUTYH OGG1

GO Terms for Attenuated Familial Adenomatous Polyposis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 APC APEX1 MSH2 MSH6 MUTYH NUDT1
2 nucleoplasm GO:0005654 9.63 APC APEX1 MSH2 MSH6 MUTYH OGG1
3 mismatch repair complex GO:0032300 8.96 MSH2 MSH6
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)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.71 APEX1 NUDT1 OGG1
2 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.55 MSH2 MSH6
3 somatic hypermutation of immunoglobulin genes GO:0016446 9.52 MSH2 MSH6
4 isotype switching GO:0045190 9.51 MSH2 MSH6
5 determination of adult lifespan GO:0008340 9.49 MSH2 MSH6
6 positive regulation of helicase activity GO:0051096 9.48 MSH2 MSH6
7 negative regulation of DNA recombination GO:0045910 9.46 MSH2 MSH6
8 maintenance of DNA repeat elements GO:0043570 9.43 MSH2 MSH6
9 base-excision repair GO:0006284 9.43 APEX1 MUTYH OGG1
10 cellular response to DNA damage stimulus GO:0006974 9.43 APC APEX1 MSH2 MSH6 MUTYH OGG1
11 somatic recombination of immunoglobulin gene segments GO:0016447 9.4 MSH2 MSH6
12 meiotic mismatch repair GO:0000710 9.37 MSH2 MSH6
13 mismatch repair GO:0006298 9.33 MSH2 MSH6 MUTYH
14 depurination GO:0045007 9.32 MUTYH OGG1
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 19)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 APEX1 MSH2 MSH6 MUTYH OGG1
2 endonuclease activity GO:0004519 9.58 APEX1 OGG1
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.58 MUTYH OGG1
4 DNA-dependent ATPase activity GO:0008094 9.56 MSH2 MSH6
5 ADP binding GO:0043531 9.55 MSH2 MSH6
6 four-way junction DNA binding GO:0000400 9.54 MSH2 MSH6
7 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.52 APEX1 OGG1
8 mismatched DNA binding GO:0030983 9.51 MSH2 MSH6
9 DNA N-glycosylase activity GO:0019104 9.49 MUTYH OGG1
10 class I DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0140078 9.48 APEX1 OGG1
11 class III/IV DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0140080 9.46 APEX1 OGG1
12 damaged DNA binding GO:0003684 9.46 APEX1 MSH2 MSH6 OGG1
13 guanine/thymine mispair binding GO:0032137 9.43 MSH2 MSH6
14 single guanine insertion binding GO:0032142 9.4 MSH2 MSH6
15 single base insertion or deletion binding GO:0032138 9.37 MSH2 MSH6
16 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity GO:0034039 9.32 MUTYH OGG1
17 single thymine insertion binding GO:0032143 9.26 MSH2 MSH6
18 MutLalpha complex binding GO:0032405 9.13 MSH2 MSH6 MUTYH
19 oxidized purine DNA binding GO:0032357 8.92 MSH2 MSH6 MUTYH OGG1

Sources for Attenuated Familial Adenomatous Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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