FAP2
MCID: FML347
MIFTS: 36

Familial Adenomatous Polyposis 2 (FAP2)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Adenomatous Polyposis 2

MalaCards integrated aliases for Familial Adenomatous Polyposis 2:

Name: Familial Adenomatous Polyposis 2 57 12 74
Adenomas, Multiple Colorectal 57 29 13
Mutyh-Related Attenuated Familial Adenomatous Polyposis 12 59
Colorectal Adenomatous Polyposis, Autosomal Recessive 57 72
Mutyh-Related Attenuated Familial Polyposis Coli 12 59
Mutyh-Related Attenuated Fap 12 59
Fap2 57 74
Colorectal Adenomatous Polyposis Autosomal Recessive 74
Adenomas, Multiple Colorectal, Autosomal Recessive 57
Adenomas Multiple Colorectal Autosomal Recessive 74
Adenomatous Polyposis, Familial, Type 2 40
Mutyh-Related Afap 59

Characteristics:

Orphanet epidemiological data:

59
mutyh-related attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
age at diagnosis ranges from the teens to the 60s


HPO:

32
familial adenomatous polyposis 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080410
MeSH 44 D011125
ICD10 33 D12.6
ICD10 via Orphanet 34 D12.6
Orphanet 59 ORPHA247798
MedGen 42 C1837991
UMLS 72 C1837991

Summaries for Familial Adenomatous Polyposis 2

OMIM : 57 Autosomal recessive colorectal adenomatous polyposis is a disorder characterized by adult-onset of multiple colorectal adenomas and adenomatous polyposis. Affected individuals have a significantly increased risk of colorectal cancer (summary by Sieber et al., 2003). Cheadle and Sampson (2003) reviewed the molecular pathology and biochemistry of MYH colonic polyposis. For a discussion of genetic heterogeneity of FAP, see 175100. (608456)

MalaCards based summary : Familial Adenomatous Polyposis 2, also known as adenomas, multiple colorectal, is related to pilomatrixoma and mutyh-associated polyposis. An important gene associated with Familial Adenomatous Polyposis 2 is MUTYH (MutY DNA Glycosylase). Affiliated tissues include colon and testes, and related phenotypes are colorectal polyposis and adenomatous colonic polyposis

Disease Ontology : 12 A familial adenomatous polyposis that has material basis in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.

UniProtKB/Swiss-Prot : 74 Familial adenomatous polyposis 2: A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.

Related Diseases for Familial Adenomatous Polyposis 2

Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2
Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4

Diseases related to Familial Adenomatous Polyposis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pilomatrixoma 11.9
2 mutyh-associated polyposis 11.7
3 colorectal adenocarcinoma 10.2
4 adenocarcinoma 10.2
5 periodontitis 10.2
6 colorectal adenoma 10.0
7 adenoma 10.0

Graphical network of the top 20 diseases related to Familial Adenomatous Polyposis 2:



Diseases related to Familial Adenomatous Polyposis 2

Symptoms & Phenotypes for Familial Adenomatous Polyposis 2

Human phenotypes related to Familial Adenomatous Polyposis 2:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colorectal polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200063
2 adenomatous colonic polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0005227
3 rectal polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0100896
4 adenocarcinoma of the colon 59 32 frequent (33%) Frequent (79-30%) HP:0040276
5 congenital hypertrophy of retinal pigment epithelium 59 32 very rare (1%) Very rare (<4-1%) HP:0007649
6 colon cancer 32 very rare (1%) HP:0003003
7 large intestinal polyposis 59 Frequent (79-30%)
8 desmoid tumors 59 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
multiple colonic adenomatous polyps
multiple colorectal polyps

Neoplasia:
increased risk of colorectal carcinoma

Clinical features from OMIM:

608456

Drugs & Therapeutics for Familial Adenomatous Polyposis 2

Search Clinical Trials , NIH Clinical Center for Familial Adenomatous Polyposis 2

Genetic Tests for Familial Adenomatous Polyposis 2

Genetic tests related to Familial Adenomatous Polyposis 2:

# Genetic test Affiliating Genes
1 Adenomas, Multiple Colorectal 29

Anatomical Context for Familial Adenomatous Polyposis 2

MalaCards organs/tissues related to Familial Adenomatous Polyposis 2:

41
Colon, Testes

Publications for Familial Adenomatous Polyposis 2

Articles related to Familial Adenomatous Polyposis 2:

(show all 46)
# Title Authors PMID Year
1
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. 8 71
21815886 2011
2
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. 8 71
17956577 2007
3
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 8 71
12606733 2003
4
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 8 71
12393807 2002
5
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 8 71
11818965 2002
6
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 71
27854360 2017
7
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 71
25645574 2015
8
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 71
25394175 2015
9
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 71
25452455 2015
10
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
11
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 71
24310308 2014
12
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
13
MUTYH-Associated Polyposis 71
23035301 2012
14
Guidelines for the clinical management of familial adenomatous polyposis (FAP). 71
18194984 2008
15
A kindred with MYH-associated polyposis and pilomatricomas. 8
15690400 2005
16
Exposing the MYtH about base excision repair and human inherited disease. 8
12915454 2003
17
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 8
12853198 2003
18
Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. 38
31372943 2019
19
Fusobacterium nucleatum Contributes to the Carcinogenesis of Colorectal Cancer by Inducing Inflammation and Suppressing Host Immunity. 38
30986689 2019
20
Fusobacterium nucleatum and colorectal cancer: A mechanistic overview. 38
30191984 2019
21
Fluorescent Pseudomonas -FAP2 and Bacillus licheniformis interact positively in biofilm mode enhancing plant growth and photosynthetic attributes. 38
30872708 2019
22
The Helicobacter pylori HopQ outermembrane protein inhibits immune cell activities. 38
30906650 2019
23
Fusobacterium nucleatum supresses anti-tumor immunity by activating CEACAM1. 38
31069151 2019
24
Immunogenicity of a Fap2 peptide mimotope of Fusobacterium nucleatum and its potential use in the diagnosis of colorectal cancer. 38
29619076 2018
25
Fusobacterium's link to colorectal neoplasia sequenced: A systematic review and future insights. 38
29358871 2017
26
Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. 38
28891849 2017
27
Carcinogenesis mechanisms of Fusobacterium nucleatum. 38
28292019 2017
28
Locoregional Effects of Microbiota in a Preclinical Model of Colon Carcinogenesis. 38
28416491 2017
29
Tumor Targeting by Fusobacterium nucleatum: A Pilot Study and Future Perspectives. 38
28713780 2017
30
The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells. 38
28010732 2016
31
Fap2 Mediates Fusobacterium nucleatum Colorectal Adenocarcinoma Enrichment by Binding to Tumor-Expressed Gal-GalNAc. 38
27512904 2016
32
When Mr. Fap Meets the Gals. 38
27512897 2016
33
[Genetics of Colorectal Tumorigenesis (Possibilities of Testing and Screening Prediction of Hereditary Form of Colorectal Cancer--Lynch Syndrome)]. 38
26691943 2016
34
Fap2 of Fusobacterium nucleatum is a galactose-inhibitable adhesin involved in coaggregation, cell adhesion, and preterm birth. 38
25561710 2015
35
Binding of the Fap2 protein of Fusobacterium nucleatum to human inhibitory receptor TIGIT protects tumors from immune cell attack. 38
25680274 2015
36
Theoretical studies on electronic structures and photophysical properties of anthracene derivatives as hole-transporting materials for OLEDs. 38
24524931 2014
37
Fusobacterium nucleatum outer membrane proteins Fap2 and RadD induce cell death in human lymphocytes. 38
20823215 2010
38
Feeding mink (Neovison vison) a protein-restricted diet during pregnancy induces higher birth weight and altered hepatic gene expression in the F(2) offspring. 38
20334712 2010
39
Fusobacterium nucleatum apoptosis-inducing outer membrane protein. 38
16040725 2005
40
Prevention of colorectal cancer through the use of COX-2 selective inhibitors. 38
15309515 2004
41
Characterization of two fructosyl-amino acid oxidase homologs of Schizosaccharomyces pombe. 38
16233628 2004
42
Management and treatment outcome of pouch-vaginal fistulas following restorative proctocolectomy. 38
12847365 2003
43
Adenocarcinoma of the small bowel: a study of 37 cases with emphasis on histologic prognostic factors. 38
12432298 2002
44
Inhibition by apple polyphenols of ADP-ribosyltransferase activity of cholera toxin and toxin-induced fluid accumulation in mice. 38
12061627 2002
45
Functional outcome of conversion of ileorectal anastomosis to ileal pouch-anal anastomosis in patients with familial adenomatous polyposis and ulcerative colitis. 38
10411437 1999
46
Transient and steady-state kinetic studies of sodium-potassium adenosine triphosphatase using beta-(2-furyl)acryloyl phosphate as chromophoric substrate assay. 38
6260131 1981

Variations for Familial Adenomatous Polyposis 2

ClinVar genetic disease variations for Familial Adenomatous Polyposis 2:

6 (show top 50) (show all 715)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MUTYH NM_001128425.1(MUTYH): c.393_406dup (p.Met136fs) duplication Pathogenic rs1553129652 1:45798825-45798838 1:45333153-45333166
2 MUTYH NM_001128425.1(MUTYH): c.586G> T (p.Glu196Ter) single nucleotide variant Pathogenic rs745921592 1:45798350-45798350 1:45332678-45332678
3 MUTYH NM_001128425.1(MUTYH): c.1267G> T (p.Glu423Ter) single nucleotide variant Pathogenic rs1060501321 1:45797148-45797148 1:45331476-45331476
4 MUTYH NM_001128425.1(MUTYH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs766420907 1:45797175-45797175 1:45331503-45331503
5 MUTYH NM_001128425.1(MUTYH): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1060501325 1:45797134-45797134 1:45331462-45331462
6 MUTYH NM_001128425.1(MUTYH): c.102del (p.Arg36fs) deletion Pathogenic rs1060501336 1:45800118-45800118 1:45334446-45334446
7 MUTYH NM_001128425.1(MUTYH): c.716_721delinsCAGCTGCT (p.Val239fs) indel Pathogenic rs1064793197 1:45798130-45798135 1:45332458-45332463
8 MUTYH NC_000001.10: g.(?_45794978)_(45798996_?)del deletion Pathogenic 1:45794978-45798996 1:45329306-45333324
9 MUTYH NM_001128425.1(MUTYH): c.859del (p.Ala287fs) deletion Pathogenic rs761468459 1:45797912-45797912 1:45332240-45332240
10 MUTYH NM_001128425.1(MUTYH): c.1356del (p.Tyr453fs) deletion Pathogenic rs1553125243 1:45796974-45796974 1:45331302-45331302
11 MUTYH NM_001128425.1(MUTYH): c.37-1317_667del deletion Pathogenic 1:45798269-45801500 1:45332597-45335828
12 MUTYH NM_001128425.1(MUTYH): c.421del (p.Gln141fs) deletion Pathogenic rs1553129638 1:45798810-45798810 1:45333138-45333138
13 MUTYH NM_001128425.1(MUTYH): c.308G> A (p.Trp103Ter) single nucleotide variant Pathogenic rs1553130185 1:45799125-45799125 1:45333453-45333453
14 MUTYH NC_000001.10: g.(?_45798240)_(45800189_?)del deletion Pathogenic 1:45798240-45800189 1:45332568-45334517
15 MUTYH NC_000001.10: g.(?_45794972)_(45799281_?)del deletion Pathogenic 1:45794972-45799281 1:45329300-45333609
16 MUTYH NM_001128425.1(MUTYH): c.1024_1046del (p.Cys342fs) deletion Pathogenic rs1553126848 1:45797473-45797495 1:45331801-45331823
17 MUTYH NM_001128425.1(MUTYH): c.809delinsAG (p.Val270fs) indel Pathogenic rs1553127825 1:45797962-45797962 1:45332290-45332290
18 MUTYH NM_001128425.1(MUTYH): c.1280_1289del (p.Trp427fs) deletion Pathogenic rs1553125677 1:45797126-45797135 1:45331454-45331463
19 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 1:45798475-45798475 1:45332803-45332803
20 MUTYH NM_001128425.1(MUTYH): c.1461del (p.Thr488fs) deletion Pathogenic rs146331482 1:45796869-45796869 1:45331197-45331197
21 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 1:45799121-45799121 1:45333449-45333449
22 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 1:45796892-45796892 1:45331220-45331220
23 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic 1:45794768-45799052 1:45329096-45333380
24 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 1:45796912-45796912 1:45331240-45331240
25 MUTYH NM_001128425.1(MUTYH): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs587780082 1:45797507-45797507 1:45331835-45331835
26 MUTYH NM_001128425.1(MUTYH): c.1434_1436GGA[1] (p.Glu480del) short repeat Pathogenic rs587778541 1:45796891-45796893 1:45331219-45331221
27 MUTYH NM_001128425.1(MUTYH): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs587780088 1:45800165-45800165 1:45334493-45334493
28 MUTYH NM_001128425.1(MUTYH): c.940C> T (p.Gln314Ter) single nucleotide variant Pathogenic rs587781338 1:45797752-45797752 1:45332080-45332080
29 MUTYH NM_001128425.1(MUTYH): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs138775799 1:45799144-45799144 1:45333472-45333472
30 MUTYH NM_001128425.1(MUTYH): c.91del (p.Ala31fs) deletion Pathogenic rs587781704 1:45800129-45800129 1:45334457-45334457
31 MUTYH NM_001128425.1(MUTYH): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs529008617 1:45797201-45797201 1:45331529-45331529
32 MUTYH NM_001128425.1(MUTYH): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic rs587782885 1:45798112-45798112 1:45332440-45332440
33 MUTYH NM_001128425.1(MUTYH): c.1171C> T (p.Gln391Ter) single nucleotide variant Pathogenic rs587783057 1:45797348-45797348 1:45331676-45331676
34 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 1:45798466-45798466 1:45332794-45332794
35 MUTYH NM_001128425.1(MUTYH): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs786203115 1:45797972-45797972 1:45332300-45332300
36 MUTYH NM_001128425.1(MUTYH): c.1474A> T (p.Lys492Ter) single nucleotide variant Pathogenic rs863224502 1:45796856-45796856 1:45331184-45331184
37 MUTYH NM_001128425.1(MUTYH): c.463A> T (p.Lys155Ter) single nucleotide variant Pathogenic rs876660787 1:45798631-45798631 1:45332959-45332959
38 MUTYH NM_001128425.1(MUTYH): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs376561094 1:45798308-45798308 1:45332636-45332636
39 MUTYH NM_001128425.1(MUTYH): c.333dup (p.Pro112fs) duplication Pathogenic rs878854189 1:45799100-45799100 1:45333428-45333428
40 MUTYH NM_001128425.1(MUTYH): c.789G> A (p.Trp263Ter) single nucleotide variant Pathogenic 1:45797982-45797982 1:45332310-45332310
41 MUTYH NM_001128425.1(MUTYH): c.971C> A (p.Ser324Ter) single nucleotide variant Pathogenic 1:45797721-45797721 1:45332049-45332049
42 MUTYH NM_001128425.1(MUTYH): c.1510_1517delinsCCAACAGCCCA (p.Thr504_Met506delinsProThrAlaGln) indel Pathogenic 1:45796189-45796196 1:45330517-45330524
43 MUTYH NM_001128425.1(MUTYH): c.1264C> T (p.Gln422Ter) single nucleotide variant Pathogenic 1:45797151-45797151 1:45331479-45331479
44 MUTYH NM_001128425.1(MUTYH): c.1218del (p.Ser406_Val407insTer) deletion Pathogenic 1:45797197-45797197 1:45331526-45331526
45 MUTYH NM_001128425.1(MUTYH): c.178G> T (p.Glu60Ter) single nucleotide variant Pathogenic 1:45799255-45799255 1:45333583-45333583
46 MUTYH NM_001128425.1(MUTYH): c.788G> A (p.Trp263Ter) single nucleotide variant Pathogenic 1:45798063-45798063 1:45332391-45332391
47 MUTYH NM_001128425.1(MUTYH): c.633_660del (p.Leu212fs) deletion Pathogenic 1:45798276-45798303 1:45332609-45332636
48 MUTYH NM_001128425.1(MUTYH): c.276dup (p.Val93fs) duplication Pathogenic 1:45799157-45799157 1:45333486-45333486
49 MUTYH NM_001128425.1(MUTYH): c.43A> G (p.Met15Val) single nucleotide variant Pathogenic 1:45800177-45800177 1:45334505-45334505
50 MUTYH NC_000001.10: g.(?_45794968)_(45799006_?)del deletion Pathogenic 1:45794968-45799006 1:45329296-45333334

UniProtKB/Swiss-Prot genetic disease variations for Familial Adenomatous Polyposis 2:

74 (show all 22)
# Symbol AA change Variation ID SNP ID
1 MUTYH p.Tyr176Cys VAR_018873 rs34612342
2 MUTYH p.Gly393Asp VAR_018875 rs36053993
3 MUTYH p.Tyr125His VAR_026045
4 MUTYH p.Trp128Arg VAR_026046 rs730881832
5 MUTYH p.Arg179His VAR_026047 rs143353451
6 MUTYH p.Arg179Cys VAR_064939 rs747993448
7 MUTYH p.Arg182Trp VAR_064940 rs750592289
8 MUTYH p.Pro154Leu VAR_077646 rs777184451
9 MUTYH p.Tyr177Ser VAR_077647
10 MUTYH p.Arg182Gln VAR_077648 rs533899702
11 MUTYH p.Gly186Glu VAR_077649 rs754155145
12 MUTYH p.Gly213Glu VAR_077650 rs768553551
13 MUTYH p.Asn235Ser VAR_077654 rs105751776
14 MUTYH p.Arg242His VAR_077656 rs140342925
15 MUTYH p.Arg271Trp VAR_077659 rs769237459
16 MUTYH p.Met280Val VAR_077660 rs876659676
17 MUTYH p.Pro292Leu VAR_077663 rs374950566
18 MUTYH p.Pro377Thr VAR_077667
19 MUTYH p.Leu385Pro VAR_077668 rs106050133
20 MUTYH p.Pro402Leu VAR_077669 rs529008617
21 MUTYH p.Ala470Asp VAR_077674 rs200844166
22 MUTYH p.Ala486Thr VAR_077677 rs587782263

Expression for Familial Adenomatous Polyposis 2

Search GEO for disease gene expression data for Familial Adenomatous Polyposis 2.

Pathways for Familial Adenomatous Polyposis 2

GO Terms for Familial Adenomatous Polyposis 2

Sources for Familial Adenomatous Polyposis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....