Details of Disease

Disease Name

Familial adenomatous polyposis 2

autosomal recessive multiple colorectal adenomas; MAP syndrome; autosomal recessive familial adenomatous polyposis; MYH-associated polyposis; FAP2; MUTYH-related attenuated FAP; adenomas, multiple colorectal, autosomal recessive; MAP; colorectal adenomatous polyposis, autosomal recessive; MUTYH-related AFAP; MUTYH-related attenuated familial polyposis coli; familial adenomatous polyposis 2; familial adenomatous polyposis, type 2; MUTYH-related attenuated familial adenomatous polyposis; MUTYH-associated polyposis; familial adenomatous polyposis, 2

Definition

An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.

Disease Hierarchy

DISCPWH9: Autosomal recessive disease

DISGMTLG: Attenuated familial adenomatous polyposis

DISW53RE: Familial adenomatous polyposis

DIS62W3Y: Familial adenomatous polyposis 2

Disease Identifiers

MONDO ID

MONDO_0012041

MESH ID

C563924

UMLS CUI

C3272841

OMIM ID

608456

MedGen ID

474474

Orphanet ID

247798

General Information of Disease (ID: DIS62W3Y)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRM3	TTQ13Z5	Limited	Biomarker	[1]
FAP	TTGPQ0F	Strong	Biomarker	[2]
MOG	TTQAFX5	Strong	Biomarker	[3]
SLC30A8	TTXIGT7	Strong	Biomarker	[4]
MUTYH	TTNB0ZK	Definitive	Autosomal recessive	[5]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A10	DTYBI73	Strong	Biomarker	[4]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
LPO	DEHX1DZ	Strong	Biomarker	[6]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AFAP1	OTR473H8	Limited	Biomarker	[2]
MSH6	OT46FP09	Limited	Altered Expression	[7]
CNPY2	OTGY8ESX	Strong	Genetic Variation	[8]
HLA-DRB3	OT5PM9N7	Strong	Biomarker	[6]
NTHL1	OTPQXPT1	Strong	Genetic Variation	[9]
NTM	OTHF0UQU	Strong	Biomarker	[10]
PIP5K1C	OT3LPG1R	Strong	Altered Expression	[11]
PRDM10	OTDDWU5Q	Strong	Biomarker	[12]
TBCA	OTCCWMGK	Strong	Biomarker	[3]
MUTYH	OTXTKI7Q	Definitive	Autosomal recessive	[5]
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⏷ Show the Full List of 10 DOT(s)

References

1	In vitro inactivation of Mycobacterium avium subsp. paratuberculosis (MAP) by use of copper ions.BMC Microbiol. 2018 Nov 1;18(1):172. doi: 10.1186/s12866-018-1313-6.
2	Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.Genet Test Mol Biomarkers. 2016 Dec;20(12):777-785. doi: 10.1089/gtmb.2016.0198. Epub 2016 Oct 5.
3	Adjuvant and antigenic properties of Mycobacterium avium subsp. paratuberculosis on experimental autoimmune encephalomyelitis.J Neuroimmunol. 2019 May 15;330:174-177. doi: 10.1016/j.jneuroim.2019.01.013. Epub 2019 Jan 23.
4	Increased seroreactivity to proinsulin and homologous mycobacterial peptides in latent autoimmune diabetes in adults.PLoS One. 2017 May 4;12(5):e0176584. doi: 10.1371/journal.pone.0176584. eCollection 2017.
5	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
6	Characterization of the bovine salivary gland transcriptome associated with Mycobacterium avium subsp. paratuberculosis experimental challenge.BMC Genomics. 2019 Jun 13;20(1):491. doi: 10.1186/s12864-019-5845-4.
7	Biallelic MUTYH mutations can mimic Lynch syndrome.Eur J Hum Genet. 2014 Nov;22(11):1334-7. doi: 10.1038/ejhg.2014.15. Epub 2014 Feb 12.
8	Soluble urokinase plasminogen activator receptor associates with higher risk, advanced disease severity as well as inflammation, and might serve as a prognostic biomarker of severe acute pancreatitis.J Clin Lab Anal. 2020 Mar;34(3):e23097. doi: 10.1002/jcla.23097. Epub 2019 Nov 27.
9	The role of inherited genetic variants in colorectal polyposis syndromes.Adv Genet. 2019;103:183-217. doi: 10.1016/bs.adgen.2018.11.002. Epub 2019 Jan 22.
10	Investigation of Mycobacterium avium complex (MAC) in Australian commercial milk using qPCR.J Dairy Res. 2017 Feb;84(1):89-91. doi: 10.1017/S0022029916000820.
11	Gene expression profiles of immune-regulatory genes in whole blood of cattle with a subclinical infection of Mycobacterium avium subsp. paratuberculosis.PLoS One. 2018 Apr 26;13(4):e0196502. doi: 10.1371/journal.pone.0196502. eCollection 2018.
12	Limiting the Hydrolysis and Oxidation of Maleimide-Peptide Adducts Improves Detection of Protein Thiol Oxidation.J Proteome Res. 2017 May 5;16(5):2004-2015. doi: 10.1021/acs.jproteome.6b01060. Epub 2017 Apr 7.