Gardner syndrome

GPTKB entity

Statements (34)
Predicate Object
gptkbp:instanceOf genetic disorder
syndrome
gptkbp:affects humans
gptkbp:alsoKnownAs familial colorectal polyposis with extracolonic manifestations
gptkbp:associatedWith gptkb:familial_adenomatous_polyposis
gptkbp:characterizedBy desmoid tumors
epidermoid cysts
osteomas
colorectal polyps
dental abnormalities
soft tissue tumors
gptkbp:diagnosedBy genetic testing
colonoscopy
gptkbp:field gptkb:medicine
genetics
gptkbp:firstDescribed gptkb:Eldon_J._Gardner
1951
https://www.w3.org/2000/01/rdf-schema#label Gardner syndrome
gptkbp:ICD-10_code Q85.8
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:APC_gene
gptkbp:OMIM 175100
gptkbp:prevalence rare
gptkbp:riskFactor colorectal cancer
gptkbp:symptom dental anomalies
desmoid fibromas
jaw osteomas
multiple colon polyps
skin cysts
gptkbp:treatment management of extracolonic tumors
prophylactic colectomy
gptkbp:bfsParent gptkb:Familial_adenomatous_polyposis
gptkb:familial_adenomatous_polyposis
gptkbp:bfsLayer 6