juvenile polyposis coli

GPTKB entity

Statements (26)
Predicate Object
gptkbp:instanceOf gptkb:disease
hereditary cancer syndrome
gptkbp:causedBy mutation in SMAD4 gene
mutation in BMPR1A gene
gptkbp:complication gastrointestinal bleeding
increased risk of colorectal cancer
gptkbp:diagnosedBy genetic testing
colonoscopy
gptkbp:firstDescribed 1964
https://www.w3.org/2000/01/rdf-schema#label juvenile polyposis coli
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D011624
gptkbp:OMIM 174900
gptkbp:riskFactor family history of juvenile polyposis
gptkbp:symptom gptkb:anemia
diarrhea
abdominal pain
rectal bleeding
multiple juvenile polyps in colon
gptkbp:synonym gptkb:juvenile_polyposis_syndrome
familial juvenile polyposis
gptkbp:treatment colectomy
regular surveillance
polypectomy
gptkbp:bfsParent gptkb:juvenile_polyposis_syndrome
gptkbp:bfsLayer 7