General Information of Disease (ID: DIS99333)

Disease Name Classic or attenuated familial adenomatous polyposis
Synonyms classic or attenuated familial adenomatous polyposis; classic or attenuated FAP
Definition An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.
Disease Hierarchy
DISFZFI4: Intestinal polyposis syndrome
DIS99333: Classic or attenuated familial adenomatous polyposis

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]
------------------------------------------------------------------------------------

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.