Familial adenomatous polyposis 2

Preferred Label : Familial adenomatous polyposis 2;

Symbol : FAP2;

CISMeF acronym : FAP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adenomas, multiple colorectal, autosomal recessive; Colorectal adenomatous polyposis, autosomal recessive;

Description : Autosomal recessive colorectal adenomatous polyposis is a disorder characterized by adult-onset of multiple colorectal adenomas and adenomatous polyposis. Affected individuals have a significantly increased risk of colorectal cancer (summary by Sieber et al., 2003). Cheadle and Sampson (2003) reviewed the molecular pathology and biochemistry of MYH colonic polyposis. See also familial adenomatous polyposis-1 (FAP1; 175100) and attenuated FAP, similar disorders showing autosomal dominant inheritance and caused by mutation in the APC gene (611731) on chromosome 5q.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MutY DNA glycosylase gene (MUTYH, 604933.0001);

Neoplasia : Increased risk of colorectal carcinoma;

Prefixed ID : #608456;

Details

Origin ID

608456;

UMLS CUI

C3272841;

Automatic exact mappings (from CISMeF team)
- familial adenomatous polyposis 2 [DO Concept]
Broader ORDO disease(s)
- Familial adenomatous polyposis [ORDO Disease]
Currated CISMeF NLP mapping
- MUTYH-Associated Polyposis [NCIt concept]
- MUTYH-related attenuated familial adenomatous polyposis [ORDO Disease]
- colorectal adenomatous polyposis, autosomal recessive [MeSH concept]
- colorectal adenomatous polyposis, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- familial adenomatous polyposis 2 [DO Concept]
Genes related to phenotype
- Muty dna glycosylase [OMIM gene]
HPO term(s)
- Adenomatous colonic polyposis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Colon cancer [HPO term]
ORDO concept(s)
- Attenuated familial adenomatous polyposis [ORDO Disease]
- MUTYH-related attenuated familial adenomatous polyposis [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- MUTYH-Associated Polyposis [NCIt concept]
- colorectal adenomatous polyposis, autosomal recessive [MeSH Supplementary Concept]
- colorectal adenomatous polyposis, autosomal recessive [MeSH concept]

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