FAP2
MCID: FML347
MIFTS: 24

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 58 12 76
Mutyh-Related Attenuated Familial Adenomatous Polyposis 12 60
Colorectal Adenomatous Polyposis, Autosomal Recessive 58 74
Mutyh-Related Attenuated Familial Polyposis Coli 12 60
Adenomas, Multiple Colorectal 58 13
Mutyh-Related Attenuated Fap 12 60
Fap2 58 76
Colorectal Adenomatous Polyposis Autosomal Recessive 76
Adenomas, Multiple Colorectal, Autosomal Recessive 58
Adenomas Multiple Colorectal Autosomal Recessive 76
Adenomatous Polyposis, Familial, Type 2 41
Mutyh-Related Afap 60

Characteristics:

Orphanet epidemiological data:

60
mutyh-related attenuated familial adenomatous polyposis
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
familial adenomatous polyposis 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080410
OMIM 58 608456
MeSH 45 D011125
ICD10 34 D12.6
ICD10 via Orphanet 35 D12.6
Orphanet 60 ORPHA247798
MedGen 43 C1837991
UMLS 74 C1837991

Summaries for Familial Adenomatous Polyposis 2

OMIM : 58 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 mutyh-related attenuated familial adenomatous polyposis, 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 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 : 76 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 11.8
2 mutyh-associated polyposis 11.5
3 colorectal adenocarcinoma 10.1
4 adenocarcinoma 10.1

Symptoms & Phenotypes for Familial Adenomatous Polyposis 2

Human phenotypes related to Familial Adenomatous Polyposis 2:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colorectal polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200063
2 adenomatous colonic polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0005227
3 adenocarcinoma of the colon 60 33 frequent (33%) Frequent (79-30%) HP:0040276
4 rectal polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0100896
5 congenital hypertrophy of retinal pigment epithelium 60 33 very rare (1%) Very rare (<4-1%) HP:0007649
6 colon cancer 33 very rare (1%) HP:0003003
7 large intestinal polyposis 60 Frequent (79-30%)
8 desmoid tumors 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Familial Adenomatous Polyposis 2

MalaCards organs/tissues related to Familial Adenomatous Polyposis 2:

42
Colon

Publications for Familial Adenomatous Polyposis 2

Variations for Familial Adenomatous Polyposis 2

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

76 (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.1588G> T (p.Asp530Tyr) single nucleotide variant Uncertain significance rs147923905 GRCh38 Chromosome 1, 45329368: 45329368
2 MUTYH NM_001128425.1(MUTYH): c.1588G> T (p.Asp530Tyr) single nucleotide variant Uncertain significance rs147923905 GRCh37 Chromosome 1, 45795040: 45795040
3 MUTYH NM_001128425.1(MUTYH): c.1449C> T (p.Thr483=) single nucleotide variant Benign/Likely benign rs150269172 GRCh38 Chromosome 1, 45331209: 45331209
4 MUTYH NM_001128425.1(MUTYH): c.1449C> T (p.Thr483=) single nucleotide variant Benign/Likely benign rs150269172 GRCh37 Chromosome 1, 45796881: 45796881
5 MUTYH NM_001128425.1(MUTYH): c.971C> T (p.Ser324Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs558173961 GRCh38 Chromosome 1, 45332049: 45332049
6 MUTYH NM_001128425.1(MUTYH): c.971C> T (p.Ser324Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs558173961 GRCh37 Chromosome 1, 45797721: 45797721
7 MUTYH NM_001128425.1(MUTYH): c.932G> A (p.Arg311Lys) single nucleotide variant Uncertain significance rs149342980 GRCh38 Chromosome 1, 45332167: 45332167
8 MUTYH NM_001128425.1(MUTYH): c.932G> A (p.Arg311Lys) single nucleotide variant Uncertain significance rs149342980 GRCh37 Chromosome 1, 45797839: 45797839
9 MUTYH NM_001128425.1(MUTYH): c.918C> G (p.Cys306Trp) single nucleotide variant Uncertain significance rs730881834 GRCh38 Chromosome 1, 45332181: 45332181
10 MUTYH NM_001128425.1(MUTYH): c.918C> G (p.Cys306Trp) single nucleotide variant Uncertain significance rs730881834 GRCh37 Chromosome 1, 45797853: 45797853
11 MUTYH NM_001128425.1(MUTYH): c.880C> T (p.Arg294Cys) single nucleotide variant Uncertain significance rs199840380 GRCh38 Chromosome 1, 45332219: 45332219
12 MUTYH NM_001128425.1(MUTYH): c.880C> T (p.Arg294Cys) single nucleotide variant Uncertain significance rs199840380 GRCh37 Chromosome 1, 45797891: 45797891
13 MUTYH NM_001128425.1(MUTYH): c.857G> A (p.Gly286Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730881833 GRCh38 Chromosome 1, 45332242: 45332242
14 MUTYH NM_001128425.1(MUTYH): c.857G> A (p.Gly286Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730881833 GRCh37 Chromosome 1, 45797914: 45797914
15 MUTYH NM_001128425.1(MUTYH): c.813C> T (p.Asp271=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881838 GRCh38 Chromosome 1, 45332286: 45332286
16 MUTYH NM_001128425.1(MUTYH): c.813C> T (p.Asp271=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881838 GRCh37 Chromosome 1, 45797958: 45797958
17 MUTYH NM_001128425.1(MUTYH): c.719C> T (p.Ala240Val) single nucleotide variant Conflicting interpretations of pathogenicity rs369120013 GRCh38 Chromosome 1, 45332460: 45332460
18 MUTYH NM_001128425.1(MUTYH): c.719C> T (p.Ala240Val) single nucleotide variant Conflicting interpretations of pathogenicity rs369120013 GRCh37 Chromosome 1, 45798132: 45798132
19 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh38 Chromosome 1, 45332794: 45332794
20 MUTYH NM_001128425.1(MUTYH): c.545G> A (p.Arg182His) single nucleotide variant Pathogenic rs143353451 GRCh37 Chromosome 1, 45798466: 45798466
21 MUTYH NM_001128425.1(MUTYH): c.391T> A (p.Trp131Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs730881832 GRCh38 Chromosome 1, 45333168: 45333168
22 MUTYH NM_001128425.1(MUTYH): c.391T> A (p.Trp131Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs730881832 GRCh37 Chromosome 1, 45798840: 45798840
23 MUTYH NM_001128425.1(MUTYH): c.372C> T (p.Asp124=) single nucleotide variant Benign/Likely benign rs730881836 GRCh38 Chromosome 1, 45333301: 45333301
24 MUTYH NM_001128425.1(MUTYH): c.372C> T (p.Asp124=) single nucleotide variant Benign/Likely benign rs730881836 GRCh37 Chromosome 1, 45798973: 45798973
25 MUTYH NM_001128425.1(MUTYH): c.36+20C> A single nucleotide variant Uncertain significance rs540793556 GRCh38 Chromosome 1, 45340199: 45340199
26 MUTYH NM_001128425.1(MUTYH): c.36+20C> A single nucleotide variant Uncertain significance rs540793556 GRCh37 Chromosome 1, 45805871: 45805871
27 MUTYH NM_001128425.1(MUTYH): c.1622C> T (p.Ala541Val) single nucleotide variant Uncertain significance rs751053826 GRCh37 Chromosome 1, 45795006: 45795006
28 MUTYH NM_001128425.1(MUTYH): c.1622C> T (p.Ala541Val) single nucleotide variant Uncertain significance rs751053826 GRCh38 Chromosome 1, 45329334: 45329334
29 MUTYH NM_001128425.1(MUTYH): c.1617T> C (p.Thr539=) single nucleotide variant Likely benign rs756708148 GRCh38 Chromosome 1, 45329339: 45329339
30 MUTYH NM_001128425.1(MUTYH): c.1617T> C (p.Thr539=) single nucleotide variant Likely benign rs756708148 GRCh37 Chromosome 1, 45795011: 45795011
31 MUTYH NM_001128425.1(MUTYH): c.1600C> A (p.Arg534=) single nucleotide variant Conflicting interpretations of pathogenicity rs144616312 GRCh37 Chromosome 1, 45795028: 45795028
32 MUTYH NM_001128425.1(MUTYH): c.1600C> A (p.Arg534=) single nucleotide variant Conflicting interpretations of pathogenicity rs144616312 GRCh38 Chromosome 1, 45329356: 45329356
33 MUTYH NM_001128425.1(MUTYH): c.1588G> C (p.Asp530His) single nucleotide variant Uncertain significance rs147923905 GRCh37 Chromosome 1, 45795040: 45795040
34 MUTYH NM_001128425.1(MUTYH): c.1588G> C (p.Asp530His) single nucleotide variant Uncertain significance rs147923905 GRCh38 Chromosome 1, 45329368: 45329368
35 MUTYH NM_001128425.1(MUTYH): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147480076 GRCh37 Chromosome 1, 45795061: 45795061
36 MUTYH NM_001128425.1(MUTYH): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147480076 GRCh38 Chromosome 1, 45329389: 45329389
37 MUTYH NM_001128425.1(MUTYH): c.1555C> T (p.Arg519Trp) single nucleotide variant Uncertain significance rs754364718 GRCh37 Chromosome 1, 45795073: 45795073
38 MUTYH NM_001128425.1(MUTYH): c.1555C> T (p.Arg519Trp) single nucleotide variant Uncertain significance rs754364718 GRCh38 Chromosome 1, 45329401: 45329401
39 MUTYH NM_001128425.1(MUTYH): c.1548G> A (p.Pro516=) single nucleotide variant Conflicting interpretations of pathogenicity rs143796254 GRCh37 Chromosome 1, 45795080: 45795080
40 MUTYH NM_001128425.1(MUTYH): c.1548G> A (p.Pro516=) single nucleotide variant Conflicting interpretations of pathogenicity rs143796254 GRCh38 Chromosome 1, 45329408: 45329408
41 MUTYH NM_001128425.1(MUTYH): c.1530G> A (p.Arg510=) single nucleotide variant Likely benign rs747201171 GRCh38 Chromosome 1, 45329426: 45329426
42 MUTYH NM_001128425.1(MUTYH): c.1530G> A (p.Arg510=) single nucleotide variant Likely benign rs747201171 GRCh37 Chromosome 1, 45795098: 45795098
43 MUTYH NM_001128425.1(MUTYH): c.1476+2C> T single nucleotide variant Conflicting interpretations of pathogenicity rs140288388 GRCh37 Chromosome 1, 45796852: 45796852
44 MUTYH NM_001128425.1(MUTYH): c.1476+2C> T single nucleotide variant Conflicting interpretations of pathogenicity rs140288388 GRCh38 Chromosome 1, 45331180: 45331180
45 MUTYH NM_001128425.1(MUTYH): c.394G> A (p.Val132Ile) single nucleotide variant Uncertain significance rs763273196 GRCh37 Chromosome 1, 45798837: 45798837
46 MUTYH NM_001128425.1(MUTYH): c.394G> A (p.Val132Ile) single nucleotide variant Uncertain significance rs763273196 GRCh38 Chromosome 1, 45333165: 45333165
47 MUTYH NM_001128425.1(MUTYH): c.389-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh37 Chromosome 1, 45798843: 45798843
48 MUTYH NM_001128425.1(MUTYH): c.389-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372267274 GRCh38 Chromosome 1, 45333171: 45333171
49 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh38 Chromosome 1, 45333436: 45333436
50 MUTYH NM_001128425.1(MUTYH): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs765123255 GRCh37 Chromosome 1, 45799108: 45799108

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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