familial adenomatous polyposis

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb: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
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:APC_protein gptkb:chromosome_18 gptkb:hepatoblastoma gptkb:Colorectal_cancer gptkb:Lynch_syndrome gptkb:Adenomatous_polyposis_coli gptkb:chromosome_5q21-q22 gptkb:APC_gene gptkb:Gardner_syndrome gptkb:Turcot_syndrome gptkb:attenuated_familial_adenomatous_polyposis
gptkbp:bfsLayer	7
https://www.w3.org/2000/01/rdf-schema#label	familial adenomatous polyposis