Attenuated Familial Adenomatous Polyposis

Preferred Label : Attenuated Familial Adenomatous Polyposis;

NCIt synonyms : Hereditary Flat Adenoma Syndrome; HFAS; Flat Adenoma Syndrome; AAPC; AFAP; Attenuated Adenomatous Polyposis Coli;

NCIt definition : A rare genetic syndrome with an autosomal dominant pattern of inheritance. It was formerly called hereditary flat adenoma syndrome (HFAS) but is now recognized as an attenuated variant of familial adenomatous polyposis (FAP). It is most commonly associated with mutations in the APC gene specifically: exons 1-5, exon 9 and in the distal 3' terminus. Clinical presentation occurs in the middle decades and is characterized by the proximal development of multiple (but less than 100), non-polypoid colonic adenomas. Clinical progression to colorectal cancer may occur later in life but the risk is less than with classic FAP.;

Détails

Origin ID

C6729;

UMLS CUI

C2674616;

Automatic exact mappings (from CISMeF team)
- Actin filament-associated protein 1 [OMIM gene]
- Attenuated familial adenomatous polyposis [MeSH concept]
- Attenuated familial adenomatous polyposis [ORDO Disease]
- Attenuated familial adenomatous polyposis [ICD-11 More detail]
- Attenuated familial adenomatous polyposis (disorder) [SNOMED CT concept]
- Familial adenomatous polyposis 1 [OMIM Phenotype]
- adenomatous polyposis coli, attenuated [MeSH Supplementary Concept]
- adenomatous polyposis coli, attenuated [MeSH concept]
- attenuated familial adenomatous polyposis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Attenuated familial adenomatous polyposis [MeSH concept]
- Attenuated familial adenomatous polyposis [ORDO Disease]
- Attenuated familial adenomatous polyposis (disorder) [SNOMED CT concept]
- attenuated familial adenomatous polyposis [MeSH Supplementary Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Glandular Cell [NCIt concept]
disease_has_associated_disease
- Flat Adenoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Multifocal Lesion [NCIt concept]
disease_has_normal_cell_origin
- Large Intestinal Glandular Cell [NCIt concept]
disease_has_normal_tissue_origin
- Large Intestinal Mucosa [NCIt concept]
disease_has_primary_anatomic_site
- Colorectal Region [NCIt concept]
- Large Intestine [NCIt concept]
disease_mapped_to_gene
- APC Gene [NCIt concept]
disease_may_have_associated_disease
- Colorectal Carcinoma [NCIt concept]
disease_may_have_molecular_abnormality
- Inactivating APC Gene Mutation [NCIt concept]
pathogenesis_of_disease_involves_gene
- APC Gene [NCIt concept]
- APC wt Allele [NCIt concept]
related_to_genetic_biomarker
- APC Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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