Details of Disease

General Information of Disease (ID: DISYXI3L)

Disease Name Lynch syndrome 4
Synonyms HNPCC4; PMS2 hereditary nonpolyposis colon cancer; colorectal cancer, hereditary nonpolyposis, type 4; hereditary nonpolyposis colon cancer caused by mutation in PMS2
Definition Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.
Disease Hierarchy
DISPA49R: Hereditary nonpolyposis colon cancer
DIS3HIWD: Autosomal dominant disease
DISYXI3L: Lynch syndrome 4
Disease Identifiers
MONDO ID
MONDO_0013699
MESH ID
C563971
UMLS CUI
C1838333
OMIM ID
614337
MedGen ID
325005

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
PMS2 OTNLWTMI Definitive Autosomal dominant [1]
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References

1 Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28.