Details of Disease

General Information of Disease (ID: DISGABXU)

Disease Name Gastric adenocarcinoma and proximal polyposis of the stomach
Synonyms GAPPS; polyposis, gastric; polyposis, gastric, Dos Santos and de Magalhaes 1980; fundic gland polyposis; familial fundic gland polyposis with gastric cancer
Definition
A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Disease Hierarchy
DISZSPOK: Polyposis
DISU3O86: Hereditary gastric cancer
DISGABXU: Gastric adenocarcinoma and proximal polyposis of the stomach
Disease Identifiers
MONDO ID
MONDO_0017790
UMLS CUI
C4749917
MedGen ID
1657285
Orphanet ID
314022
SNOMED CT ID
771474005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APC OTKV0TIK 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.