Details of Disease

General Information of Disease (ID: DISG6RBU)

Disease Name Polyposis syndrome, hereditary mixed, 1
Synonyms
colorectal cancer, susceptibility to, on chromosome 15; colorectal adenoma and carcinoma 1; HMPS1; colorectal cancer, susceptibility to, 4; chromosome 15Q13-q14 Duplication syndrome, 40-Kb; polyposis syndrome, hereditary mixed, 1; polyposis syndrome, hereditary mixed 1
Disease Hierarchy
DISPNBY1: Hereditary mixed polyposis syndrome
DISG6RBU: Polyposis syndrome, hereditary mixed, 1
Disease Identifiers
MONDO ID
MONDO_0042486
MESH ID
C563365
UMLS CUI
C1832587
OMIM ID
601228
MedGen ID
331320

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GREM1 TTOUZN5 Strong Autosomal dominant [1]
GREM1 TTOUZN5 Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BMPR1A OTQOA4ZH Strong GermlineCausalMutation [3]
FMN1 OT9CID5R Strong Genetic Variation [4]
GREM1 OTCK4IGV Strong Autosomal dominant [1]
SCG5 OTXSJMT1 Strong Genetic Variation [4]
------------------------------------------------------------------------------------

References

1 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.
2 GREM1 and POLE variants in hereditary colorectal cancer syndromes.Genes Chromosomes Cancer. 2016 Jan;55(1):95-106. doi: 10.1002/gcc.22314. Epub 2015 Oct 23.
3 Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J Med Genet. 2006 Mar;43(3):e13. doi: 10.1136/jmg.2005.034827.
4 Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.Nat Genet. 2008 Jan;40(1):26-8. doi: 10.1038/ng.2007.41. Epub 2007 Dec 16.