Details of Disease | DrugMAP

General Information of Disease (ID: DISPNBY1)

Disease Name	Hereditary mixed polyposis syndrome
Synonyms	hereditary mixed polyposis syndrome; HMPS
Definition	Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
Disease Hierarchy	DISFZFI4: Intestinal polyposis syndrome DIS7JDYJ: Gastrointestinal disease DISPNBY1: Hereditary mixed polyposis syndrome
Disease Identifiers	MONDO ID MONDO_0011023 UMLS CUI C5192681 MedGen ID 1672870 Orphanet ID 157794 SNOMED CT ID 787410005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GREM1	TTOUZN5	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMPR1A	OTQOA4ZH	Supportive	Autosomal dominant	[2]
GREM1	OTCK4IGV	Definitive	Autosomal dominant	[1]
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References

1	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.
2	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.