Details of Disease

General Information of Disease (ID: DISVLOYP)

Disease Name Hyperplastic polyposis syndrome
Synonyms serrated polyposis
Definition
Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
Disease Hierarchy
DISFZFI4: Intestinal polyposis syndrome
DIS7JDYJ: Gastrointestinal disease
DISVLOYP: Hyperplastic polyposis syndrome
Disease Identifiers
MONDO ID
MONDO_0015524
UMLS CUI
C4296896
MedGen ID
1645454
Orphanet ID
157798
SNOMED CT ID
763536006

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
RNF43 TTD91BL Supportive Autosomal dominant [1]
RNF43 TTD91BL Strong Genetic Variation [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NTHL1 OTPQXPT1 Limited Genetic Variation [3]
RNF43 OT2R9YDP Supportive Autosomal dominant [1]
MBD4 OTWR9YXE Strong Biomarker [4]
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References

1 A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. Hum Genome Var. 2015 Apr 16;2:15013. doi: 10.1038/hgv.2015.13. eCollection 2015.
2 Update on genetic predisposition to colorectal cancer and polyposis.Mol Aspects Med. 2019 Oct;69:10-26. doi: 10.1016/j.mam.2019.03.001. Epub 2019 Mar 18.
3 NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.Sci Rep. 2019 Jun 21;9(1):9020. doi: 10.1038/s41598-019-45281-1.
4 Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.Gastroenterology. 2006 Jul;131(1):30-9. doi: 10.1053/j.gastro.2006.03.046.