AAPC
MCID: ATT003
MIFTS: 57

Attenuated Familial Adenomatous Polyposis (AAPC)

Categories: Cancer diseases, 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 20 58 29
Adenomatous Polyposis Coli, Attenuated 29 6 70
Attenuated Familial Polyposis Coli 20 58
Attenuated Fap 20 58
Afap 20 58
Familial Adenomatous Polyposis, Attenuated 70
Attenuated Adenomatous Polyposis Coli 20
Mild Form of Fap 20
Aapc 20

Characteristics:

Orphanet epidemiological data:

58
attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

MESH via Orphanet 45 C538265
ICD10 via Orphanet 33 D12.6
UMLS via Orphanet 71 C2674616
Orphanet 58 ORPHA220460
UMLS 70 C1868019 C2674616

Summaries for Attenuated Familial Adenomatous Polyposis

GARD : 20 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 2 and familial adenomatous polyposis. An important gene associated with Attenuated Familial Adenomatous Polyposis is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Telomere C-strand (Lagging Strand) Synthesis. The drugs Thrombin and Cola 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 top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 2 32.4 TOE1 MUTYH APC
2 familial adenomatous polyposis 31.3 OGG1 NUDT1 NTHL1 MUTYH MSH6 MSH2
3 adenoma 31.0 MUTYH MSH6 MSH2 APC
4 mutyh polyposis 30.9 TOE1 MUTYH
5 colorectal adenoma 30.8 MUTYH MSH2 APC
6 rectum cancer 30.4 MUTYH MSH6 MSH2 APC
7 duodenum adenocarcinoma 30.4 MSH6 MSH2
8 myh-associated polyposis 30.4 TOE1 MUTYH MSH2 APC
9 hereditary nonpolyposis colon cancer 30.3 MUTYH MSH6 MSH2
10 muir-torre syndrome 30.3 MUTYH MSH6 MSH2
11 colorectal adenocarcinoma 30.2 MSH6 MSH2 APC
12 rectum adenocarcinoma 30.2 MSH6 MSH2
13 desmoid tumor 30.2 MUTYH APC
14 adenocarcinoma 29.8 POLE MSH6 MSH2 APC
15 endometrial cancer 29.2 POLE MUTYH MSH6 MSH2 APC
16 familial colorectal cancer 29.2 POLE POLD1 MUTYH MSH2 APC
17 lynch syndrome 28.9 POLE POLD1 OGG1 MUTYH MSH6 MSH2
18 familial adenomatous polyposis 1 11.5
19 familial adenomatous polyposis 3 11.4
20 familial adenomatous polyposis 4 11.4
21 axin2-related attenuated familial adenomatous polyposis 11.4
22 gastric adenocarcinoma and proximal polyposis of the stomach 10.9
23 apc-associated polyposis conditions 10.7
24 tumor predisposition syndrome 10.6
25 cutaneous telangiectasia and cancer syndrome, familial 10.6
26 inherited cancer-predisposing syndrome 10.6
27 colorectal cancer 10.5
28 gastric adenocarcinoma 10.3
29 serrated polyposis syndrome 10.3 MUTYH APC
30 actinic cheilitis 10.2 MSH2 APEX1
31 cheilitis 10.2 MSH2 APEX1
32 b-lymphoblastic leukemia/lymphoma with t 10.2 MSH6 APC
33 periampullary adenoma 10.2 MSH6 APC
34 mismatch repair cancer syndrome 10.2 MSH6 MSH2
35 extrahepatic bile duct adenoma 10.2 MSH6 MSH2
36 jejunal adenocarcinoma 10.2 MUTYH MSH6
37 silent pituitary adenoma 10.2 MSH6 MSH2
38 renal pelvis transitional cell carcinoma 10.2 MSH6 MSH2
39 adenosquamous colon carcinoma 10.2 MSH6 MSH2
40 autosomal dominant non-syndromic intellectual disability 8 10.2 MSH6 MSH2
41 appendix carcinoid tumor 10.2 MSH6 MSH2
42 esophagus sarcoma 10.2 MSH6 MSH2
43 cervical adenosarcoma 10.2 MSH6 MSH2
44 t-cell non-hodgkin lymphoma 10.2 MSH6 MSH2
45 small intestine adenocarcinoma 10.2 MSH6 MSH2
46 dysplastic nevus syndrome 10.1 MSH6 MSH2
47 legius syndrome 10.1 MSH6 MSH2
48 breast-ovarian cancer, familial 1 10.1 MSH6 MSH2
49 pulmonary disease, chronic obstructive 10.1
50 colon adenocarcinoma 10.1

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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colorectal polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200063
2 duodenal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0004783
3 adenomatous colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0005227
4 neoplasm of the stomach 58 31 frequent (33%) Frequent (79-30%) HP:0006753
5 rectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0100896
6 fibroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0010614
7 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
8 astrocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009592
9 papilloma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012740
10 uterine leiomyoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000131
11 thyroid adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000854
12 adenocarcinoma of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0040276
13 large intestinal polyposis 58 Frequent (79-30%)
14 congenital hypertrophy of retinal pigment epithelium 58 Excluded (0%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.35 APEX1 MUTYH NUDT1 POLD1 POLE
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MSH2 MSH6 MUTYH NTHL1 NUDT1 OGG1

MGI Mouse Phenotypes related to Attenuated Familial Adenomatous Polyposis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 APC APEX1 MSH2 MSH6 MUTYH NTHL1
2 immune system MP:0005387 9.76 APC APEX1 MSH2 MSH6 NUDT1 OGG1
3 mortality/aging MP:0010768 9.61 APC APEX1 MSH2 MSH6 MUTYH OGG1
4 neoplasm MP:0002006 9.32 APC APEX1 MSH2 MSH6 MUTYH NTHL1

Drugs & Therapeutics for Attenuated Familial Adenomatous Polyposis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 2
2 Cola Phase 2
3
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
4 Protein Kinase Inhibitors Phase 2
5 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Evaluate the Efficacy and Safety of Anti-Adhesion Product in the Prevention of Intraperitoneal Adhesions Completed NCT00512356 Phase 2
2 Phase II Trial of Weekly Erlotinib Dosing to Reduce Duodenal Polyp Burden Associated With Familial Adenomatous Polyposis Active, not recruiting NCT02961374 Phase 2 Erlotinib;Erlotinib Hydrochloride
3 A Pilot Study of the Adoptive Transfer of MART1/Melan-A CTL for Malignant Melanoma Completed NCT00512889 Phase 1 GM-CSF
4 Safety and Immunity Evaluation of A Covid-19 Coronavirus Artificial Antigen Presenting Cell Vaccine Recruiting NCT04299724 Phase 1
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 Familial Adenomatous Polyposis 29

Anatomical Context for Attenuated Familial Adenomatous Polyposis

MalaCards organs/tissues related to Attenuated Familial Adenomatous Polyposis:

40
Colon, Small Intestine, Thyroid, Breast, Pancreas, Heart, Ovary

Publications for Attenuated Familial Adenomatous Polyposis

Articles related to Attenuated Familial Adenomatous Polyposis:

(show top 50) (show all 283)
# Title Authors PMID Year
1
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis. 61 6
31739127 2020
2
The "Studded" Rectum: Phenotypic Evidence of MYH-Associated Polyposis. 6 61
27145315 2016
3
Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 61 6
23561487 2013
4
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. 6 61
21815886 2011
5
MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. 6 61
22158503 2011
6
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. 61 6
20618354 2010
7
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 6 61
19793053 2009
8
Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 6 61
19279422 2009
9
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 61 6
18091433 2007
10
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 6 61
17489848 2007
11
High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. 61 6
15188161 2004
12
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 61 6
12606733 2003
13
MUTYH: Not just polyposis. 6
32821650 2020
14
PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins. 6
32665031 2020
15
Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy 6
31104418 2019
16
When you're strange: Unusual features of the MUTYH glycosylase and implications in cancer. 6
31203172 2019
17
High-frequency actionable pathogenic exome variants in an average-risk cohort. 6
30487145 2018
18
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 6
30388038 2018
19
A human MUTYH variant linking colonic polyposis to redox degradation of the [4Fe4S]2+ cluster. 6
29915346 2018
20
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. 6
29909963 2018
21
Characteristics of MUTYH variants in Japanese colorectal polyposis patients. 6
29330641 2018
22
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. 6
29406563 2018
23
Inherited DNA-Repair Defects in Colorectal Cancer. 6
29478780 2018
24
Identification of genetic variants for clinical management of familial colorectal tumors. 6
29458332 2018
25
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 6
28349240 2017
26
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). 6
28521875 2017
27
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 6
28533537 2017
28
Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. 6
28127763 2017
29
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 6
27978560 2017
30
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 6
28135145 2017
31
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer. 6
28423643 2017
32
Oxidative DNA damage induces hypomethylation in a compromised base excision repair colorectal tumourigenesis. 6
28141798 2017
33
Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis. 6
27720914 2017
34
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 6
27829682 2017
35
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 6
28152038 2017
36
Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. 6
27705013 2016
37
Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy. 6
27683556 2016
38
Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 6
27194394 2016
39
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
40
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 6
26976419 2016
41
Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas. 6
26902849 2016
42
Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 6
26694661 2016
43
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. 6
26133394 2016
44
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 6
26446593 2016
45
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 6
26556299 2016
46
Structure and stereochemistry of the base excision repair glycosylase MutY reveal a mechanism similar to retaining glycosidases. 6
26673696 2016
47
Patterns and functional implications of rare germline variants across 12 cancer types. 6
26689913 2015
48
Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas. 6
26344056 2015
49
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. 6
26553438 2015
50
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. 6
26350127 2015

Variations for Attenuated Familial Adenomatous Polyposis

ClinVar genetic disease variations for Attenuated Familial Adenomatous Polyposis:

6 (show top 50) (show all 6882)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLE NM_006231.3(POLE):c.1270C>G (p.Leu424Val) SNV Pathogenic 40046 rs483352909 GRCh37: 12:133250250-133250250
GRCh38: 12:132673664-132673664
2 MUTYH NM_001048174.2(MUTYH):c.1103-2A>G SNV Pathogenic 141282 rs587781628 GRCh37: 1:45797230-45797230
GRCh38: 1:45331558-45331558
3 MUTYH NM_001048174.2(MUTYH):c.305-1G>C SNV Pathogenic 234229 rs372267274 GRCh37: 1:45798843-45798843
GRCh38: 1:45333171-45333171
4 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) SNV Pathogenic 127845 rs587780088 GRCh37: 1:45800165-45800165
GRCh38: 1:45334493-45334493
5 MUTYH NM_001048174.2(MUTYH):c.1393-51_*2del Deletion Pathogenic 1050536 GRCh37: 1:45794976-45796280
GRCh38: 1:45329304-45330608
6 MUTYH NM_012222.2(MUTYH):c.724C>T (p.Arg242Cys) SNV Pathogenic 41761 rs200495564 GRCh37: 1:45798118-45798118
GRCh38: 1:45332446-45332446
7 MUTYH NM_001048171.1(MUTYH):c.1105del (p.Ala371fs) Deletion Pathogenic 134860 rs587778536 GRCh37: 1:45797372-45797372
GRCh38: 1:45331700-45331700
8 MUTYH NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) SNV Pathogenic 5294 rs36053993 GRCh37: 1:45797228-45797228
GRCh38: 1:45331556-45331556
9 MUTYH NM_001048171.1(MUTYH):c.270C>A (p.Tyr90Ter) SNV Pathogenic 5296 rs121908380 GRCh37: 1:45799121-45799121
GRCh38: 1:45333449-45333449
10 MUTYH NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) SNV Pathogenic 5297 rs121908381 GRCh37: 1:45796892-45796892
GRCh38: 1:45331220-45331220
11 MUTYH NM_012222.2(MUTYH):c.1205C>T (p.Pro402Leu) SNV Pathogenic 142604 rs529008617 GRCh37: 1:45797201-45797201
GRCh38: 1:45331529-45331529
12 MUTYH NM_001048173.1(MUTYH):c.1350_1352GGA[1] (p.Glu452del) Microsatellite Pathogenic 127838 rs587778541 GRCh37: 1:45796891-45796893
GRCh38: 1:45331219-45331221
13 MUTYH NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) SNV Pathogenic 5294 rs36053993 GRCh37: 1:45797228-45797228
GRCh38: 1:45331556-45331556
14 MUTYH NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) SNV Pathogenic 5294 rs36053993 GRCh37: 1:45797228-45797228
GRCh38: 1:45331556-45331556
15 MUTYH NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) SNV Pathogenic 5293 rs34612342 GRCh37: 1:45798475-45798475
GRCh38: 1:45332803-45332803
16 NTHL1 NM_002528.7(NTHL1):c.685+1G>A SNV Pathogenic 218092 rs372946560 GRCh37: 16:2093567-2093567
GRCh38: 16:2043566-2043566
17 MUTYH NM_012222.2(MUTYH):c.1452del (p.Thr485fs) Deletion Pathogenic 5295 rs146331482 GRCh37: 1:45796869-45796869
GRCh38: 1:45331197-45331197
18 MUTYH NM_001128425.1(MUTYH):c.348+33_*210delinsTA Indel Pathogenic 30441 GRCh37: 1:45794768-45799052
GRCh38: 1:45329096-45333380
19 MUTYH NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp) SNV Pathogenic 41041 rs200844166 GRCh37: 1:45796912-45796912
GRCh38: 1:45331240-45331240
20 MUTYH NM_001128425.1(MUTYH):c.389-2A>G SNV Pathogenic 215998 rs863224452 GRCh37: 1:45798844-45798844
GRCh38: 1:45333172-45333172
21 MUTYH NC_000001.11:g.(?_45329306)_(45333324_?)del Deletion Pathogenic 437842 GRCh37: 1:45794978-45798996
GRCh38: 1:45329306-45333324
22 MUTYH NM_001293192.1(MUTYH):c.-28dup Duplication Pathogenic 238345 rs878854189 GRCh37: 1:45799099-45799100
GRCh38: 1:45333427-45333428
23 MUTYH NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter) SNV Pathogenic 406830 rs1060501325 GRCh37: 1:45797134-45797134
GRCh38: 1:45331462-45331462
24 MUTYH NM_001293192.1(MUTYH):c.-153del Deletion Pathogenic 406847 rs1060501336 GRCh37: 1:45800118-45800118
GRCh38: 1:45334446-45334446
25 MUTYH NM_001128425.1(MUTYH):c.1267G>T (p.Glu423Ter) SNV Pathogenic 406823 rs1060501321 GRCh37: 1:45797148-45797148
GRCh38: 1:45331476-45331476
26 MUTYH NM_001350650.1(MUTYH):c.33+119_33+132dup Duplication Pathogenic 406838 rs1553129652 GRCh37: 1:45798824-45798825
GRCh38: 1:45333152-45333153
27 MUTYH NM_001128425.1(MUTYH):c.37-1317_667del Deletion Pathogenic 464717 GRCh37: 1:45798269-45801500
GRCh38: 1:45332597-45335828
28 MUTYH NM_001350650.1(MUTYH):c.33+147del Deletion Pathogenic 464719 rs1553129638 GRCh37: 1:45798810-45798810
GRCh38: 1:45333138-45333138
29 MUTYH NM_012222.2(MUTYH):c.800delinsAG (p.Val267fs) Indel Pathogenic 533305 rs1553127825 GRCh37: 1:45797962-45797962
GRCh38: 1:45332290-45332290
30 MUTYH NM_012222.2(MUTYH):c.1271_1280del (p.Trp424fs) Deletion Pathogenic 533306 rs1553125677 GRCh37: 1:45797126-45797135
GRCh38: 1:45331454-45331463
31 MUTYH NM_012222.2(MUTYH):c.1015_1037del (p.Cys339fs) Deletion Pathogenic 533319 rs1553126848 GRCh37: 1:45797473-45797495
GRCh38: 1:45331801-45331823
32 MUTYH NC_000001.11:g.(?_45332568)_(45334517_?)del Deletion Pathogenic 533332 GRCh37: 1:45798240-45800189
GRCh38: 1:45332568-45334517
33 MUTYH NC_000001.11:g.(?_45329300)_(45333609_?)del Deletion Pathogenic 533333 GRCh37: 1:45794972-45799281
GRCh38: 1:45329300-45333609
34 MUTYH NM_001128425.1(MUTYH):c.789G>A (p.Trp263Ter) SNV Pathogenic 565890 rs1338038953 GRCh37: 1:45797982-45797982
GRCh38: 1:45332310-45332310
35 MUTYH NM_001128425.1(MUTYH):c.971C>A (p.Ser324Ter) SNV Pathogenic 569689 rs558173961 GRCh37: 1:45797721-45797721
GRCh38: 1:45332049-45332049
36 MUTYH NM_001128425.1(MUTYH):c.178G>T (p.Glu60Ter) SNV Pathogenic 582666 rs1557487793 GRCh37: 1:45799255-45799255
GRCh38: 1:45333583-45333583
37 MUTYH NM_012222.2(MUTYH):c.1501_1508delinsCCAACAGCCCA (p.Thr501_Met503delinsProThrAlaGln) Indel Pathogenic 587356 rs1557451154 GRCh37: 1:45796189-45796196
GRCh38: 1:45330517-45330524
38 MUTYH NM_001128425.1(MUTYH):c.788G>A (p.Trp263Ter) SNV Pathogenic 641274 rs1570406302 GRCh37: 1:45798063-45798063
GRCh38: 1:45332391-45332391
39 MUTYH NM_001128425.1(MUTYH):c.43A>G (p.Met15Val) SNV Pathogenic 641313 rs1570467133 GRCh37: 1:45800177-45800177
GRCh38: 1:45334505-45334505
40 MUTYH NM_001128425.1(MUTYH):c.37-95_84delinsC Indel Pathogenic 648550 rs1570465624 GRCh37: 1:45800136-45800278
GRCh38: 1:45334464-45334606
41 MUTYH NM_001128425.1(MUTYH):c.1264C>T (p.Gln422Ter) SNV Pathogenic 654529 rs1437789978 GRCh37: 1:45797151-45797151
GRCh38: 1:45331479-45331479
42 MUTYH NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer) Deletion Pathogenic 663501 rs1570376147 GRCh37: 1:45797197-45797197
GRCh38: 1:45331525-45331525
43 MUTYH NC_000001.11:g.(?_45329296)_(45333334_?)del Deletion Pathogenic 639376 GRCh37: 1:45794968-45799006
GRCh38: 1:45329296-45333334
44 MUTYH NM_001048174.2(MUTYH):c.192dup (p.Val65fs) Duplication Pathogenic 657663 rs1570443585 GRCh37: 1:45799156-45799157
GRCh38: 1:45333484-45333485
45 MUTYH NM_012222.2(MUTYH):c.624_651del (p.Leu209fs) Deletion Pathogenic 662131 rs1570415363 GRCh37: 1:45798276-45798303
GRCh38: 1:45332604-45332631
46 MUTYH NC_000001.11:g.(?_45329306)_(45333334_?)del Deletion Pathogenic 832371 GRCh37: 1:45794978-45799006
GRCh38:
47 MUTYH NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter) SNV Pathogenic 801228 rs1306473047 GRCh37: 1:45798490-45798490
GRCh38: 1:45332818-45332818
48 MUTYH NM_001048174.2(MUTYH):c.1275T>G (p.Tyr425Ter) SNV Pathogenic 947743 GRCh37: 1:45796971-45796971
GRCh38: 1:45331299-45331299
49 MUTYH , TOE1 NM_025077.4(TOE1):c.-4_3dup (p.Ala2fs) Duplication Pathogenic 959701 GRCh37: 1:45805919-45805920
GRCh38: 1:45340247-45340248
50 MUTYH NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter) SNV Pathogenic 953438 GRCh37: 1:45798776-45798776
GRCh38: 1:45333104-45333104

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 POLE POLD1 OGG1 NTHL1 MUTYH MSH6
2
Show member pathways
12.38 POLE POLD1 OGG1 NTHL1 MUTYH APEX1
3 12.19 NUDT1 MUTYH MSH6 MSH2 APEX1
4 11.8 MSH6 MSH2 APC
5
Show member pathways
11.77 POLE POLD1 OGG1 NTHL1 MSH6 MSH2
6
Show member pathways
11.54 POLE POLD1 MSH6 MSH2
7 11.17 MSH6 MSH2
8
Show member pathways
11.14 MSH2 APEX1
9 11.11 POLE POLD1
10 10.92 MSH6 MSH2
11
Show member pathways
10.81 OGG1 NTHL1
12
Show member pathways
10.32 OGG1 MUTYH

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 9.7 TOE1 POLE POLD1 OGG1 NUDT1 NTHL1
2 chromosome, telomeric region GO:0000781 9.5 POLD1 MSH2 APEX1
3 nucleoplasm GO:0005654 9.32 TOE1 POLE POLD1 OGG1 NTHL1 MUTYH
4 mismatch repair complex GO:0032300 9.26 MSH6 MSH2
5 MutSalpha complex GO:0032301 9.16 MSH6 MSH2

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.78 OGG1 NTHL1 MUTYH
2 aging GO:0007568 9.77 OGG1 NUDT1 APEX1
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.73 POLE POLD1 APEX1
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.63 MSH6 MSH2
5 DNA biosynthetic process GO:0071897 9.62 POLE POLD1
6 nucleotide-excision repair, DNA incision GO:0033683 9.62 POLD1 OGG1
7 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.61 POLD1 NTHL1
8 cellular response to DNA damage stimulus GO:0006974 9.61 POLE POLD1 OGG1 NTHL1 MUTYH MSH6
9 telomere maintenance via semi-conservative replication GO:0032201 9.59 POLE POLD1
10 nucleotide-excision repair, DNA gap filling GO:0006297 9.58 POLE POLD1
11 determination of adult lifespan GO:0008340 9.58 MSH6 MSH2
12 negative regulation of DNA recombination GO:0045910 9.57 MSH6 MSH2
13 mismatch repair GO:0006298 9.56 POLD1 MUTYH MSH6 MSH2
14 isotype switching GO:0045190 9.55 MSH6 MSH2
15 somatic hypermutation of immunoglobulin genes GO:0016446 9.54 MSH6 MSH2
16 DNA synthesis involved in DNA repair GO:0000731 9.52 POLE POLD1
17 depyrimidination GO:0045008 9.51 OGG1 NTHL1
18 positive regulation of helicase activity GO:0051096 9.49 MSH6 MSH2
19 base-excision repair, gap-filling GO:0006287 9.48 POLE POLD1
20 maintenance of DNA repeat elements GO:0043570 9.46 MSH6 MSH2
21 base-excision repair GO:0006284 9.46 OGG1 NTHL1 MUTYH APEX1
22 somatic recombination of immunoglobulin gene segments GO:0016447 9.43 MSH6 MSH2
23 depurination GO:0045007 9.4 OGG1 MUTYH
24 base-excision repair, AP site formation GO:0006285 9.37 OGG1 NTHL1
25 DNA replication proofreading GO:0045004 9.32 POLE POLD1
26 DNA repair GO:0006281 9.28 POLE POLD1 OGG1 NUDT1 NTHL1 MUTYH

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.08 POLE POLD1 OGG1 NTHL1 MUTYH MSH6
2 hydrolase activity GO:0016787 10.05 POLE POLD1 OGG1 NUDT1 NTHL1 MUTYH
3 chromatin binding GO:0003682 9.9 POLE POLD1 MSH6 MSH2
4 double-stranded DNA binding GO:0003690 9.77 NTHL1 MSH6 MSH2
5 endonuclease activity GO:0004519 9.73 OGG1 NTHL1 APEX1
6 hydrolase activity, acting on glycosyl bonds GO:0016798 9.72 OGG1 NTHL1 MUTYH
7 iron-sulfur cluster binding GO:0051536 9.67 POLE POLD1 NTHL1 MUTYH
8 ADP binding GO:0043531 9.62 MSH6 MSH2
9 DNA-dependent ATPase activity GO:0008094 9.62 MSH6 MSH2
10 DNA-directed DNA polymerase activity GO:0003887 9.61 POLE POLD1
11 3'-5' exonuclease activity GO:0008408 9.61 POLD1 APEX1
12 four-way junction DNA binding GO:0000400 9.58 MSH6 MSH2
13 mismatched DNA binding GO:0030983 9.58 MSH6 MSH2
14 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.57 NTHL1 APEX1
15 class I DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0140078 9.54 OGG1 NTHL1
16 guanine/thymine mispair binding GO:0032137 9.52 MSH6 MSH2
17 DNA N-glycosylase activity GO:0019104 9.5 OGG1 NTHL1 MUTYH
18 single guanine insertion binding GO:0032142 9.49 MSH6 MSH2
19 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity GO:0034039 9.46 OGG1 MUTYH
20 4 iron, 4 sulfur cluster binding GO:0051539 9.46 POLE POLD1 NTHL1 MUTYH
21 single thymine insertion binding GO:0032143 9.43 MSH6 MSH2
22 MutLalpha complex binding GO:0032405 9.43 MUTYH MSH6 MSH2
23 oxidized purine nucleobase lesion DNA N-glycosylase activity GO:0008534 9.4 OGG1 NTHL1
24 damaged DNA binding GO:0003684 9.35 POLD1 OGG1 MSH6 MSH2 APEX1
25 oxidized purine DNA binding GO:0032357 8.92 OGG1 MUTYH MSH6 MSH2

Sources for Attenuated Familial Adenomatous Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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