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

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
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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Neoplasms

Benign neoplasms

Benign neoplasm of colon, rectum, anus and anal canal

Benign neoplasm: Colon, unspecified

Orphanet: ⁶⁰

Rare gastroenterological diseases

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

SNOMED-CT via HPO ⁷⁰ 232074003 258211005 363406005 more

UMLS ⁷⁴ C1837991

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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.

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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	11.8
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

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

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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:

⁴²

Colon

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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 ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ 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:

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

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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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²⁴ GeneHancer via GeneCards

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³⁵ ICD10 via Orphanet

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Familial Adenomatous Polyposis 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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