FAP2
MCID: FML347
MIFTS: 23

Familial Adenomatous Polyposis 2 (FAP2)

Categories: 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 75
Colorectal Adenomatous Polyposis, Autosomal Recessive 57 73
Adenomas, Multiple Colorectal 57 13
Fap2 57 75
Mutyh-Related Attenuated Familial Adenomatous Polyposis 59
Colorectal Adenomatous Polyposis Autosomal Recessive 75
Adenomas, Multiple Colorectal, Autosomal Recessive 57
Mutyh-Related Attenuated Familial Polyposis Coli 59
Adenomas Multiple Colorectal Autosomal Recessive 75
Adenomatous Polyposis, Familial, Type 2 40
Mutyh-Related Attenuated Fap 59
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:

OMIM 57 608456
Orphanet 59 ORPHA247798
ICD10 via Orphanet 34 D12.6
MedGen 42 C1837991
MeSH 44 D011125
SNOMED-CT via HPO 69 258211005 363406005
UMLS 73 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 colorectal adenomatous polyposis, autosomal recessive, 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, skin and eye, and related phenotypes are colon cancer and adenomatous colonic polyposis

UniProtKB/Swiss-Prot : 75 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 11.7
2 mutyh-associated polyposis 11.5
3 colorectal adenocarcinoma 10.1
4 adenocarcinoma 10.1

Symptoms & Phenotypes for Familial Adenomatous Polyposis 2

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

Human phenotypes related to Familial Adenomatous Polyposis 2:

32
# Description HPO Frequency HPO Source Accession
1 colon cancer 32 very rare (1%) HP:0003003
2 adenomatous colonic polyposis 32 HP:0005227

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

Anatomical Context for Familial Adenomatous Polyposis 2

MalaCards organs/tissues related to Familial Adenomatous Polyposis 2:

41
Colon, Skin, Eye

Publications for Familial Adenomatous Polyposis 2

Variations for Familial Adenomatous Polyposis 2

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

75 (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

ClinVar genetic disease variations for Familial Adenomatous Polyposis 2:

6 (show top 50) (show all 1254)
# Gene Variation Type Significance SNP ID Assembly Location
1 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh37 Chromosome 1, 45798475: 45798475
2 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 GRCh38 Chromosome 1, 45332803: 45332803
3 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh37 Chromosome 1, 45797228: 45797228
4 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 GRCh38 Chromosome 1, 45331556: 45331556
5 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh37 Chromosome 1, 45796869: 45796869
6 MUTYH NM_001128425.1(MUTYH): c.1461delC (p.Thr488Profs) deletion Pathogenic rs587776618 GRCh38 Chromosome 1, 45331197: 45331197
7 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh37 Chromosome 1, 45799121: 45799121
8 MUTYH NM_001128425.1(MUTYH): c.312C> A (p.Tyr104Ter) single nucleotide variant Pathogenic rs121908380 GRCh38 Chromosome 1, 45333449: 45333449
9 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh37 Chromosome 1, 45796892: 45796892
10 MUTYH NM_001128425.1(MUTYH): c.1438G> T (p.Glu480Ter) single nucleotide variant Pathogenic rs121908381 GRCh38 Chromosome 1, 45331220: 45331220
11 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh38 Chromosome 1, 45329096: 45333380
12 MUTYH NM_001128425.1(MUTYH): c.348+33_*210delinsTA indel Pathogenic GRCh37 Chromosome 1, 45794768: 45799052
13 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh37 Chromosome 1, 45796912: 45796912
14 MUTYH NM_001128425.1(MUTYH): c.1418C> A (p.Ala473Asp) single nucleotide variant Pathogenic rs200844166 GRCh38 Chromosome 1, 45331240: 45331240
15 MUTYH NM_001128425.1(MUTYH): c.1118C> T (p.Ala373Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35352891 GRCh37 Chromosome 1, 45797401: 45797401
16 MUTYH NM_001128425.1(MUTYH): c.1118C> T (p.Ala373Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35352891 GRCh38 Chromosome 1, 45331729: 45331729
17 MUTYH NM_001128425.1(MUTYH): c.1258C> A (p.Leu420Met) single nucleotide variant Conflicting interpretations of pathogenicity rs144079536 GRCh37 Chromosome 1, 45797157: 45797157
18 MUTYH NM_001128425.1(MUTYH): c.1258C> A (p.Leu420Met) single nucleotide variant Conflicting interpretations of pathogenicity rs144079536 GRCh38 Chromosome 1, 45331485: 45331485
19 MUTYH NM_001128425.1(MUTYH): c.1276C> T (p.Arg426Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150792276 GRCh37 Chromosome 1, 45797139: 45797139
20 MUTYH NM_001128425.1(MUTYH): c.1276C> T (p.Arg426Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150792276 GRCh38 Chromosome 1, 45331467: 45331467
21 MUTYH NM_001128425.1(MUTYH): c.1420C> T (p.Arg474Cys) single nucleotide variant Uncertain significance rs200229669 GRCh37 Chromosome 1, 45796910: 45796910
22 MUTYH NM_001128425.1(MUTYH): c.1420C> T (p.Arg474Cys) single nucleotide variant Uncertain significance rs200229669 GRCh38 Chromosome 1, 45331238: 45331238
23 MUTYH NM_001128425.1(MUTYH): c.1544C> T (p.Ser515Phe) single nucleotide variant Benign/Likely benign rs140118273 GRCh37 Chromosome 1, 45795084: 45795084
24 MUTYH NM_001128425.1(MUTYH): c.1544C> T (p.Ser515Phe) single nucleotide variant Benign/Likely benign rs140118273 GRCh38 Chromosome 1, 45329412: 45329412
25 MUTYH NM_001128425.1(MUTYH): c.1585C> A (p.Leu529Met) single nucleotide variant Benign/Likely benign rs3219496 GRCh37 Chromosome 1, 45795043: 45795043
26 MUTYH NM_001128425.1(MUTYH): c.1585C> A (p.Leu529Met) single nucleotide variant Benign/Likely benign rs3219496 GRCh38 Chromosome 1, 45329371: 45329371
27 MUTYH NM_001128425.1(MUTYH): c.1601G> A (p.Arg534Gln) single nucleotide variant Benign/Likely benign rs3219497 GRCh37 Chromosome 1, 45795027: 45795027
28 MUTYH NM_001128425.1(MUTYH): c.1601G> A (p.Arg534Gln) single nucleotide variant Benign/Likely benign rs3219497 GRCh38 Chromosome 1, 45329355: 45329355
29 MUTYH NM_001128425.1(MUTYH): c.251A> G (p.Tyr84Cys) single nucleotide variant Uncertain significance rs200747973 GRCh37 Chromosome 1, 45799182: 45799182
30 MUTYH NM_001128425.1(MUTYH): c.251A> G (p.Tyr84Cys) single nucleotide variant Uncertain significance rs200747973 GRCh38 Chromosome 1, 45333510: 45333510
31 MUTYH NM_001128425.1(MUTYH): c.53C> T (p.Pro18Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs79777494 GRCh37 Chromosome 1, 45800167: 45800167
32 MUTYH NM_001128425.1(MUTYH): c.53C> T (p.Pro18Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs79777494 GRCh38 Chromosome 1, 45334495: 45334495
33 MUTYH NM_001128425.1(MUTYH): c.64G> A (p.Val22Met) single nucleotide variant Benign/Likely benign rs3219484 GRCh37 Chromosome 1, 45800156: 45800156
34 MUTYH NM_001128425.1(MUTYH): c.64G> A (p.Val22Met) single nucleotide variant Benign/Likely benign rs3219484 GRCh38 Chromosome 1, 45334484: 45334484
35 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh37 Chromosome 1, 45798118: 45798118
36 MUTYH NM_001128425.1(MUTYH): c.733C> T (p.Arg245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200495564 GRCh38 Chromosome 1, 45332446: 45332446
37 MUTYH NM_001128425.1(MUTYH): c.74G> A (p.Gly25Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs75321043 GRCh37 Chromosome 1, 45800146: 45800146
38 MUTYH NM_001128425.1(MUTYH): c.74G> A (p.Gly25Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs75321043 GRCh38 Chromosome 1, 45334474: 45334474
39 MUTYH NM_001128425.1(MUTYH): c.821G> A (p.Arg274Gln) single nucleotide variant Uncertain significance rs149866955 GRCh37 Chromosome 1, 45797950: 45797950
40 MUTYH NM_001128425.1(MUTYH): c.821G> A (p.Arg274Gln) single nucleotide variant Uncertain significance rs149866955 GRCh38 Chromosome 1, 45332278: 45332278
41 MUTYH NM_001128425.1(MUTYH): c.925C> T (p.Arg309Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138089183 GRCh37 Chromosome 1, 45797846: 45797846
42 MUTYH NM_001128425.1(MUTYH): c.925C> T (p.Arg309Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138089183 GRCh38 Chromosome 1, 45332174: 45332174
43 MUTYH NM_001128425.1(MUTYH): c.934-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs77542170 GRCh37 Chromosome 1, 45797760: 45797760
44 MUTYH NM_001128425.1(MUTYH): c.934-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs77542170 GRCh38 Chromosome 1, 45332088: 45332088
45 MUTYH NM_001128425.1(MUTYH): c.1014G> C (p.Gln338His) single nucleotide variant Benign rs3219489 GRCh37 Chromosome 1, 45797505: 45797505
46 MUTYH NM_001128425.1(MUTYH): c.1014G> C (p.Gln338His) single nucleotide variant Benign rs3219489 GRCh38 Chromosome 1, 45331833: 45331833
47 MUTYH NM_001128425.1(MUTYH): c.1096C> T (p.Pro366Ser) single nucleotide variant Uncertain significance rs267598622 GRCh37 Chromosome 1, 45797423: 45797423
48 MUTYH NM_001128425.1(MUTYH): c.1096C> T (p.Pro366Ser) single nucleotide variant Uncertain significance rs267598622 GRCh38 Chromosome 1, 45331751: 45331751
49 MUTYH NM_001128425.1(MUTYH): c.1096C> T (p.Pro366Ser) single nucleotide variant Uncertain significance rs267598622 NCBI36 Chromosome 1, 45570010: 45570010
50 MUTYH NM_001128425.1(MUTYH): c.1227_1228dupGG (p.Glu410Glyfs) duplication Pathogenic rs587780078 GRCh37 Chromosome 1, 45797187: 45797188

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

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