Details of Disease

General Information of Disease (ID: DISM44VR)

• Disease Name: Familial adenomatous polyposis 1
• Synonyms: adenomatous polyposis of the colon; polyposis, adenomatous intestinal; familial adenomatous polyposis, attenuated; Gardner syndrome; brain tumor-polyposis syndrome 2; familial polyposis of the colon; adenomatous polyposis coli, attenuated; adenomatous polyposis coli; adenoma, periampullary, somatic; FAP1; attenuated familial adenomatous polyposis caused by mutation in APC; familial adenomatous polyposis 1; APC attenuated familial adenomatous polyposis
• Definition: Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.
• Disease Hierarchy:
  DISGMTLG: Attenuated familial adenomatous polyposis
  DISW53RE: Familial adenomatous polyposis
  DISM44VR: Familial adenomatous polyposis 1
• Disease Identifiers:
  MONDO ID: MONDO_0021056
  MESH ID: D011125
  UMLS CUI: C2713442
  MedGen ID: 398651

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AKT1	TTWTSCV	Limited	Biomarker	[1]
CYP26A1	TTD7Q0R	Limited	Biomarker	[2]
MUTYH	TTNB0ZK	Limited	Biomarker	[3]
F5	TT1O264	moderate	Biomarker	[4]
CD44	TTWFBT7	Strong	Biomarker	[5]
GREM1	TTOUZN5	Strong	Biomarker	[6]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FMO3	DEP76YL	moderate	Therapeutic	[7]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITIH4	OT460OO1	moderate	Biomarker	[4]
LRG1	OTLD0KWA	moderate	Biomarker	[4]
MCC	OTQVI1EM	moderate	Biomarker	[8]
NTHL1	OTPQXPT1	Strong	Biomarker	[9]
APC	OTKV0TIK	Definitive	Autosomal dominant	[10]

References

• [1] Chemoprevention of familial adenomatous polyposis by natural dietary compounds sulforaphane and dibenzoylmethane alone and in combination in ApcMin/+ mouse.Cancer Res. 2007 Oct 15;67(20):9937-44. doi: 10.1158/0008-5472.CAN-07-1112.
• [2] Up-regulation of CYP26A1 in adenomatous polyposis coli-deficient vertebrates via a WNT-dependent mechanism: implications for intestinal cell differentiation and colon tumor development.Cancer Res. 2006 Aug 1;66(15):7571-7. doi: 10.1158/0008-5472.CAN-06-1067.
• [3] Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.Carcinogenesis. 2005 Nov;26(11):2010-8. doi: 10.1093/carcin/bgi166. Epub 2005 Jun 29.
• [4] The concentrations of EGFR, LRG1, ITIH4, and F5 in serum correlate with the number of colonic adenomas in ApcPirc/+ rats.Cancer Prev Res (Phila). 2014 Nov;7(11):1160-9. doi: 10.1158/1940-6207.CAPR-14-0056. Epub 2014 Sep 8.
• [5] Functional Genomic mRNA Profiling of Colorectal Adenomas: Identification and in vivo Validation of CD44 and Splice Variant CD44v6 as Molecular Imaging Targets.Theranostics. 2017 Jan 6;7(2):482-492. doi: 10.7150/thno.16816. eCollection 2017.
• [6] Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet. 2012 May 6;44(6):699-703. doi: 10.1038/ng.2263.
• [7] Genetic polymorphisms of human flavin-containing monooxygenase 3: implications for drug metabolism and clinical perspectives.Pharmacogenomics. 2007 Jun;8(6):635-43. doi: 10.2217/14622416.8.6.635.
• [8] Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.J Med Genet. 1994 Apr;31(4):312-6. doi: 10.1136/jmg.31.4.312.
• [9] A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet. 2015 Jun;47(6):668-71. doi: 10.1038/ng.3287. Epub 2015 May 4.
• [10] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.