Details of Disease

General Information of Disease (ID: DIS2FW8J)

Disease Name Familial adenomatous polyposis 4
Synonyms
familial adenomatous polyposis 4; FAP4; MSH3-related attenuated FAP; MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; familial adenomatous polyposis type 4; MSH3-related attenuated familial polyposis coli
Definition
An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.
Disease Hierarchy
DISGMTLG: Attenuated familial adenomatous polyposis
DISW53RE: Familial adenomatous polyposis
DIS2FW8J: Familial adenomatous polyposis 4
Disease Identifiers
MONDO ID
MONDO_0044300
UMLS CUI
C4310719
OMIM ID
617100
MedGen ID
934686

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
MSH3 OTD3YPVL Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.