Juvenile polyposis syndrome

GPTKB entity

Statements (26)
Predicate Object
gptkbp:instanceOf gptkb:syndrome
gptkb:genetic_disorder
gptkbp:affects adults
children
gptkbp:causedBy mutation in SMAD4 gene
mutation in BMPR1A gene
gptkbp:diagnosedBy genetic testing
colonoscopy
gptkbp:firstDescribed 1964
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D011626
gptkbp:OMIM 174900
gptkbp:prevalence rare
gptkbp:riskFactor colorectal cancer
gastric cancer
gptkbp:symptom gptkb:anemia
abdominal pain
gastrointestinal polyps
rectal bleeding
gptkbp:synonym gptkb:juvenile_polyposis_coli
familial juvenile polyposis
gptkbp:treatment colectomy
polypectomy
gptkbp:bfsParent gptkb:Inherited_Cancer_Syndromes
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label Juvenile polyposis syndrome