Familial Adenomatous Polyposis 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Gastrointestinal diseases Eye diseases Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Neoplasms

Benign neoplasms

Benign neoplasm of colon, rectum, anus and anal canal

Benign neoplasm: Colon, unspecified

Orphanet: ⁵⁹

Rare gastroenterological diseases

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

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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.

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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
1	pilomatrixoma	11.7
2	mutyh-associated polyposis	11.5
3	colorectal adenocarcinoma	10.1
4	adenocarcinoma	10.1

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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

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Drugs & Therapeutics for Familial Adenomatous Polyposis 2

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

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Genetic Tests for Familial Adenomatous Polyposis 2

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Anatomical Context for Familial Adenomatous Polyposis 2

MalaCards organs/tissues related to Familial Adenomatous Polyposis 2:

⁴¹

Colon, Skin, Eye

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Publications for Familial Adenomatous Polyposis 2

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Genes for Familial Adenomatous Polyposis 2

Genes related to Familial Adenomatous Polyposis 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MUTYH	MutY DNA Glycosylase	Protein Coding	1579.55	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)

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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

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Expression for Familial Adenomatous Polyposis 2

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

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Pathways for Familial Adenomatous Polyposis 2

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GO Terms for Familial Adenomatous Polyposis 2

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Sources for Familial Adenomatous Polyposis 2

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Familial Adenomatous Polyposis 2 (FAP2)

Aliases & Classifications for Familial Adenomatous Polyposis 2

MalaCards integrated aliases for Familial Adenomatous Polyposis 2:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Familial Adenomatous Polyposis 2

Related Diseases for Familial Adenomatous Polyposis 2

Diseases in the Familial Adenomatous Polyposis family:

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

Symptoms & Phenotypes for Familial Adenomatous Polyposis 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Familial Adenomatous Polyposis 2:

Drugs & Therapeutics 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:

Publications for Familial Adenomatous Polyposis 2

Genes for Familial Adenomatous Polyposis 2

Genes related to Familial Adenomatous Polyposis 2 (1 elite genes):

Variations for Familial Adenomatous Polyposis 2

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

ClinVar genetic disease variations for Familial Adenomatous Polyposis 2:

Expression for Familial Adenomatous Polyposis 2

Pathways for Familial Adenomatous Polyposis 2

GO Terms for Familial Adenomatous Polyposis 2

Sources for Familial Adenomatous Polyposis 2