familial adenomatous polyposis

URI: https://gptkb.org/entity/familial_adenomatous_polyposis
GPTKB entity
Statements (32)
Predicate Object
gptkbp:instanceOf genetic disorder
hereditary cancer syndrome
gptkbp:alsoKnownAs gptkb:FAP
gptkbp:associatedWith congenital hypertrophy of the retinal pigment epithelium
desmoid tumors
duodenal polyps
osteomas
dental abnormalities
gptkbp:cause gptkb:Gardner_syndrome
gptkb:Turcot_syndrome
gptkbp:characterizedBy hundreds to thousands of colorectal polyps
gptkbp:diagnosedBy genetic testing
colonoscopy
gptkbp:firstDescribed gptkb:Samuel_Wilks
1861
https://www.w3.org/2000/01/rdf-schema#label familial adenomatous polyposis
gptkbp:ICD-10_code Q85.8
gptkbp:inheritance autosomal dominant
gptkbp:locatedOnChromosome gptkb:chromosome_5q21-q22
gptkbp:MeSH_ID D010972
gptkbp:mutationAssociatedWith gptkb:APC_gene
germline mutation
gptkbp:OMIM 175100
gptkbp:onset adolescence
gptkbp:penetrance high
gptkbp:prevalence 1 in 8,000 to 1 in 10,000 individuals
gptkbp:riskFactor colorectal cancer
gptkbp:screeningRecommendedFor first-degree relatives
gptkbp:treatment colectomy
regular surveillance
gptkbp:bfsParent gptkb:Lynch_syndrome
gptkbp:bfsLayer 5