Details of Disease

General Information of Disease (ID: DIS84VIN)

Disease Name Sessile serrated polyposis cancer syndrome
Synonyms SSPCS; sessile serrated polyposis cancer syndrome; SSPCS; sessile serrated polyposis cancer syndrome
Disease Hierarchy
DISVLOYP: Hyperplastic polyposis syndrome
DIS84VIN: Sessile serrated polyposis cancer syndrome
Disease Identifiers
MONDO ID
MONDO_0014919
UMLS CUI
C4310714
OMIM ID
617108
MedGen ID
934681

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 Limited Biomarker [1]
RNF43 TTD91BL Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RNF43 OT2R9YDP Definitive Autosomal dominant [2]
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References

1 RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.Gut. 2017 Sep;66(9):1645-1656. doi: 10.1136/gutjnl-2016-311849. Epub 2016 Jun 21.
2 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.