Polymerase Proofreading Associated Polyposis

Preferred Label : Polymerase Proofreading Associated Polyposis;

NCIt synonyms : PPAP;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the POLE and/or POLD1 genes, encoding DNA polymerase epsilon catalytic subunit A and DNA polymerase delta catalytic subunit, respectively. It is characterized by colorectal polyposis and a predisposition to colorectal cancer. Mutation(s) in POLE and/or POLD1 genes have been associated with an increased risk of endometrial cancer, breast and brain tumors, and multi-tumor phenotypes.;

NCI Metathesaurus CUI : CL970978;

Details

Origin ID

C162484;

UMLS CUI

C5202613;

Automatic exact mappings (from CISMeF team)
- N-(3-phenyl-n-propyl)-1-phenyl-2-aminopropane [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Polymerase proofreading-related adenomatous polyposis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_associated_disease
- Adenomatous Polyp [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- POLD1 Gene [NCIt concept]
- POLE Gene [NCIt concept]
disease_may_have_molecular_abnormality
- POLD1 Gene Mutation [NCIt concept]
- POLE Gene Mutation [NCIt concept]
pathogenesis_of_disease_involves_gene
- POLD1 Gene [NCIt concept]
- POLD1 wt Allele [NCIt concept]
- POLE Gene [NCIt concept]
- POLE wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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