MUTYH-Associated Polyposis

Preferred Label : MUTYH-Associated Polyposis;

NCIt synonyms : MAP; MYH-Associated Polyposis;

CISMeF synonym : colorectal Adenomatous Polyposi; colorectal Adenomatous Polyposis, Autosomal Recessive; multiple Colorectal Adenomas, Autosomal Recessive;;

Définition CISMeF : MUTYH-associated polyposis (MAP), caused by biallelic pathogenic variants in MUTYH, is characterized by a greatly increased lifetime risk of colorectal cancer (CRC) (43% to almost 100% in the absence of timely surveillance).;

CISMeF acronym : MAP;

NCIt definition : An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.;

Details

Origin ID

C96520;

UMLS CUI

C3272841;

Automatic exact mappings (from CISMeF team)
- Familial adenomatous polyposis [ORDO Disease]
- MAP [EDAM format]
- MYH-associated polyposis (disorder) [SNOMED CT concept]
- Map [EDAM data]
- Map [MeSH publication type]
- Map group (foundation metadata concept) [SNOMED CT concept]
- Mapping [EDAM operation]
- Mapping [EDAM topic]
- Microtubule-associated protein [FMA entity]
- Mitogen-Activated protein kinases [MeSH Descriptor]
- Potassium-aggravated myotonia [ORDO Disease]
- Small g protein signaling modulator 3 [OMIM gene]
- Threatened premature delivery [PASCAL descriptor]
- cystic adenomatoid malformation of lung, congenital [MeSH Descriptor]
- initiator methionyl aminopeptidase activity [GO term]
- maps as topic [MeSH Descriptor]
- peripheral arterial disease [MeSH Descriptor]
- peripheral vascular diseases [MeSH Descriptor]
- threatened premature labor [SNOMED Notion]
Currated CISMeF NLP mapping
- Familial adenomatous polyposis 2 [OMIM Phenotype]
- MUTYH-related attenuated familial adenomatous polyposis [ORDO Disease]
- colorectal adenomatous polyposis, autosomal recessive [MeSH concept]
- colorectal adenomatous polyposis, autosomal recessive [MeSH Supplementary Concept]
See also inter- (CISMeF)
- adenomatous polyposis coli [MeSH Descriptor]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Familial adenomatous polyposis 2 [OMIM Phenotype]
- colorectal adenomatous polyposis, autosomal recessive [MeSH Supplementary Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_disease
- Colorectal Polyp [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- MUTYH Gene Mutation [NCIt concept]
disease_mapped_to_gene
- MUTYH Gene [NCIt concept]
disease_may_have_associated_disease
- Colorectal Carcinoma [NCIt concept]
- Gastric Polyp [NCIt concept]
- Small Intestinal Adenoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- MUTYH Gene [NCIt concept]
- MUTYH wt Allele [NCIt concept]
related_to_genetic_biomarker
- MUTYH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients