MCID: ATT003
MIFTS: 51

Attenuated Familial Adenomatous Polyposis

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Attenuated Familial Adenomatous Polyposis

MalaCards integrated aliases for Attenuated Familial Adenomatous Polyposis:

Name: Attenuated Familial Adenomatous Polyposis 54 60
Adenomatous Polyposis Coli, Attenuated 30 6 74
Attenuated Fap 54 60 30
Attenuated Familial Polyposis Coli 54 60
Afap 54 60
Familial Adenomatous Polyposis, Attenuated 74
Attenuated Adenomatous Polyposis Coli 54
Mild Form of Fap 54
Aapc 54

Characteristics:

Orphanet epidemiological data:

60
attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:



External Ids:

MESH via Orphanet 46 C538265
ICD10 via Orphanet 35 D12.6
UMLS via Orphanet 75 C2674616
Orphanet 60 ORPHA220460

Summaries for Attenuated Familial Adenomatous Polyposis

NIH Rare Diseases : 54 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 Regulator Of WNT Signaling Pathway), 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 thyroid, and related phenotypes are colorectal polyposis and duodenal polyposis

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 48)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 31.9 APC MSH2 MSH6 MUTYH NUDT1
2 mutyh-associated polyposis 30.4 APC MUTYH
3 adenoma 29.7 APC MSH2 MUTYH
4 muir-torre syndrome 29.6 MSH2 MSH6 MUTYH
5 colorectal cancer 28.9 APC MSH2 MSH6 MUTYH OGG1
6 lynch syndrome 28.7 APC MSH2 MSH6 MUTYH OGG1
7 axin2-related attenuated familial adenomatous polyposis 12.5
8 familial adenomatous polyposis 1 11.8
9 familial adenomatous polyposis 2 11.7
10 familial adenomatous polyposis 3 11.5
11 familial adenomatous polyposis 4 11.5
12 adenocarcinoma 10.2
13 polyposis syndrome, hereditary mixed, 1 10.2 APC MUTYH
14 hyperplastic polyposis syndrome 10.2 APC MUTYH
15 juvenile polyposis syndrome 10.1 APC MUTYH
16 desmoid disease, hereditary 10.1
17 ameloblastoma 10.1
18 polyposis, gastric 10.1
19 polyposis of gastric fundus without polyposis coli 10.1
20 endometrial cancer 10.1
21 gastric cancer 10.1
22 gastric adenocarcinoma 10.1
23 colon adenoma 10.0 APC OGG1
24 xeroderma pigmentosum, complementation group d 10.0 APEX1 OGG1
25 ectodermal dysplasia 9.9
26 appendix carcinoid tumor 9.9 MSH2 MSH6
27 adenosquamous colon carcinoma 9.9 MSH2 MSH6
28 sebaceous adenoma 9.9 MSH2 MSH6
29 cheilitis 9.9 APEX1 MSH2
30 legius syndrome 9.8 MSH2 MSH6
31 cecum adenocarcinoma 9.8 MSH2 MSH6
32 lynch syndrome i 9.8 MSH2 MSH6
33 sebaceous adenocarcinoma 9.8 MSH2 MSH6
34 skin benign neoplasm 9.8 MSH2 MSH6
35 small intestine cancer 9.8 MSH2 MSH6
36 intestinal benign neoplasm 9.8 APC MSH2 MUTYH
37 familial colorectal cancer 9.7 APC MSH2 MUTYH
38 colorectal cancer, hereditary nonpolyposis, type 5 9.7 MSH2 MSH6
39 colorectal adenoma 9.7 APC MSH2 MUTYH
40 uterine anomalies 9.7 MSH2 MSH6
41 mismatch repair cancer syndrome 9.7 APC MSH2 MSH6
42 colonic disease 9.7 MSH2 MSH6
43 autosomal genetic disease 9.6 MSH2 MSH6 MUTYH
44 intestinal disease 9.6 MSH2 MSH6 MUTYH
45 gastrointestinal system cancer 9.6 MSH2 MSH6 MUTYH
46 colorectal adenocarcinoma 9.6 MSH2 MSH6
47 female reproductive system disease 9.5 MSH2 MSH6
48 large intestine cancer 9.1 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

Human phenotypes related to Attenuated Familial Adenomatous Polyposis:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colorectal polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200063
2 duodenal polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0004783
3 adenomatous colonic polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0005227
4 neoplasm of the stomach 60 33 frequent (33%) Frequent (79-30%) HP:0006753
5 rectal polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0100896
6 multiple renal cysts 60 33 occasional (7.5%) Occasional (29-5%) HP:0005562
7 fibroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0010614
8 thyroid adenoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000854
9 astrocytoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0009592
10 papilloma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012740
11 uterine leiomyoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000131
12 adenocarcinoma of the colon 60 33 occasional (7.5%) Occasional (29-5%) HP:0040276
13 large intestinal polyposis 60 Frequent (79-30%)
14 congenital hypertrophy of retinal pigment epithelium 60 Excluded (0%)

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 APC APEX1 MSH2 MSH6 MUTYH NUDT1
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 441411 12560
2 Gastrointestinal Agents Phase 4
3 Anti-Bacterial Agents Phase 4
4 Erythromycin stearate Phase 4
5 Anti-Infective Agents Phase 4
6 Erythromycin Ethylsuccinate Phase 4
7 Erythromycin Estolate Phase 4
8
Sulindac Approved, Investigational Phase 2 38194-50-2 1548887 5352
9
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
10 Peripheral Nervous System Agents Phase 2
11 Cola Phase 2
12 Analgesics Phase 2
13 Analgesics, Non-Narcotic Phase 2
14 Cyclooxygenase Inhibitors Phase 2
15 Protein Kinase Inhibitors Phase 2
16
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
17 Anti-Inflammatory Agents Phase 2
18 Antirheumatic Agents Phase 2
19 retinol Phase 2
20 Retinol palmitate Phase 2
21 Anti-Inflammatory Agents, Non-Steroidal 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;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 30
2 Attenuated Fap 30

Anatomical Context for Attenuated Familial Adenomatous Polyposis

MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

42
Colon, Small Intestine, Thyroid, Testes, Pancreas, Skin, Appendix

Publications for Attenuated Familial Adenomatous Polyposis

Articles related to Attenuated Familial Adenomatous Polyposis:

(show top 50) (show all 54)
# Title Authors Year
1
Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature. ( 30836352 )
2019
2
The Final Diagnosis: Colorectal Carcinoma, In the Context of Attenuated Familial Adenomatous Polyposis, Mimicking Pulmonary Carcinoma. ( 30148019 )
2018
3
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. ( 28891849 )
2017
4
Endoscopic ampullectomy of simultaneous major and minor papilla adenomas in a patient with attenuated familial adenomatous polyposis. ( 26851621 )
2016
5
Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. ( 27081525 )
2015
6
Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014. ( 25248397 )
2015
7
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. ( 24549056 )
2014
8
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis. ( 24790607 )
2014
9
A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. ( 23838596 )
2014
10
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases. ( 23423322 )
2013
11
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature. ( 21813337 )
2012
12
Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis. ( 23244118 )
2012
13
Total gastrectomy and pancreaticoduodenectomy for gastric polyposis and duodenal ampullary adenoma in a patient with attenuated familial adenomatous polyposis. ( 21375864 )
2011
14
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. ( 21815886 )
2011
15
Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). ( 21368914 )
2011
16
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. ( 20033787 )
2010
17
Attenuated familial adenomatous polyposis: results from an international collaborative study. ( 20105204 )
2010
18
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. ( 21078199 )
2010
19
Large intron 14 rearrangement in APC results in splice defect and attenuated FAP. ( 20033212 )
2010
20
American founder mutation for attenuated familial adenomatous polyposis. ( 18063416 )
2008
21
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis. ( 18166348 )
2008
22
Nine-year follow-up of a patient with attenuated familial adenomatous polyposis treated with cyclo-oxygenase-2 inhibitors. ( 18609144 )
2008
23
Total gastrectomy for gastric dysplasia in a patient with attenuated familial adenomatous polyposis syndrome. ( 18640943 )
2008
24
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. ( 17143620 )
2007
25
A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis. ( 17410430 )
2007
26
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. ( 17489848 )
2007
27
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. ( 18091433 )
2007
28
Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. ( 18186383 )
2007
29
Colorectal cancer surveillance behaviors among members of typical and attenuated FAP families. ( 17266693 )
2007
30
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. ( 16461775 )
2006
31
Gastric carcinogenesis after long-term observation of clinical course without any treatment in a patient with attenuated familial adenomatous polyposis. ( 16873575 )
2006
32
Variation of a variation: case report of attenuated familial adenomatous polyposis. ( 18333267 )
2006
33
Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis. ( 15623495 )
2005
34
Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis. ( 15941485 )
2005
35
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. ( 16207212 )
2005
36
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation. ( 16253019 )
2005
37
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. ( 15300576 )
2004
38
Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype. ( 15131404 )
2004
39
A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis. ( 12519375 )
2003
40
Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. ( 12740351 )
2003
41
Attenuated familial adenomatous polyposis (AFAP). A review of the literature. ( 14574166 )
2003
42
Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. ( 11786778 )
2002
43
Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. ( 12135043 )
2002
44
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis? ( 12164972 )
2002
45
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. ( 12394442 )
2002
46
Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. ( 11321399 )
2001
47
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. ( 11766074 )
2001
48
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. ( 10924409 )
2000
49
Giant fundic polyp complicating attenuated familial adenomatous polyposis. ( 10925993 )
2000
50
Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. ( 10445562 )
1999

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

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 18)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.73 APEX1 NUDT1 OGG1
2 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.58 MSH2 MSH6
3 negative regulation of DNA recombination GO:0045910 9.55 MSH2 MSH6
4 somatic hypermutation of immunoglobulin genes GO:0016446 9.54 MSH2 MSH6
5 isotype switching GO:0045190 9.52 MSH2 MSH6
6 determination of adult lifespan GO:0008340 9.51 MSH2 MSH6
7 positive regulation of helicase activity GO:0051096 9.49 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 9.37 MSH2 MSH6
12 mismatch repair GO:0006298 9.33 MSH2 MSH6 MUTYH
13 depurination GO:0045007 9.32 MUTYH OGG1
14 interstrand cross-link repair GO:0036297 9.27 MSH6
15 pyrimidine dimer repair GO:0006290 9.18 MSH6
16 replication fork arrest GO:0043111 9.16 MSH6
17 meiotic mismatch repair GO:0000710 9.1 MSH6
18 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 16)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.93 APEX1 MSH2 MSH6 MUTYH OGG1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.56 MUTYH OGG1
3 endonuclease activity GO:0004519 9.55 APEX1 OGG1
4 DNA-dependent ATPase activity GO:0008094 9.52 MSH2 MSH6
5 ADP binding GO:0043531 9.51 MSH2 MSH6
6 four-way junction DNA binding GO:0000400 9.49 MSH2 MSH6
7 mismatched DNA binding GO:0030983 9.48 MSH2 MSH6
8 DNA N-glycosylase activity GO:0019104 9.46 MUTYH OGG1
9 damaged DNA binding GO:0003684 9.46 APEX1 MSH2 MSH6 OGG1
10 class I DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0140078 9.43 APEX1 OGG1
11 guanine/thymine mispair binding GO:0032137 9.4 MSH2 MSH6
12 single thymine insertion binding GO:0032143 9.37 MSH2 MSH6
13 single guanine insertion binding GO:0032142 9.32 MSH2 MSH6
14 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity GO:0034039 9.26 MUTYH OGG1
15 MutLalpha complex binding GO:0032405 9.13 MSH2 MSH6 MUTYH
16 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....