juvenile polyposis syndrome

GPTKB entity

Statements (30)
Predicate Object
gptkbp:instanceOf gptkb:syndrome
gptkb:genetic_disorder
gptkbp:affects gptkb:small_intestine
colon
stomach
gptkbp:causedBy mutation in SMAD4 gene
mutation in BMPR1A gene
gptkbp:complication increased risk of colorectal cancer
increased risk of gastric cancer
gptkbp:diagnosedBy genetic testing
colonoscopy
gptkbp:firstDescribed 1964
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D011626
gptkbp:OMIM 174900
gptkbp:prevalence 1 in 100,000 to 1 in 160,000
gptkbp:riskFactor family history
gptkbp:symptom gptkb:anemia
diarrhea
abdominal pain
rectal bleeding
multiple polyps in gastrointestinal tract
gptkbp:synonym gptkb:JPS
gptkb:juvenile_polyposis_coli
gptkbp:treatment colectomy
endoscopic surveillance
polypectomy
gptkbp:bfsParent gptkb:SMAD4
gptkbp:bfsLayer 6
https://www.w3.org/2000/01/rdf-schema#label juvenile polyposis syndrome