PTEN hamartoma tumor syndrome

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:hereditary_cancer_syndrome
gptkbp:associatedWith	gptkb:Bannayan-Riley-Ruvalcaba_syndrome gptkb:Cowden_syndrome gptkb:Proteus-like_syndrome gptkb:Proteus_syndrome
gptkbp:characterizedBy	increased risk of cancer multiple hamartomas
gptkbp:diagnosedBy	genetic testing
gptkbp:firstDescribed	1997
gptkbp:inheritance	autosomal dominant
gptkbp:locatedOnChromosome	gptkb:chromosome_10q23.3
gptkbp:managedBy	cancer surveillance surgical removal of hamartomas
gptkbp:mutationAssociatedWith	gptkb:PTEN_gene
gptkbp:OMIM	601728
gptkbp:otherName	gptkb:PHTS
gptkbp:prevalence	rare
gptkbp:riskFactor	gptkb:cancer gptkb:renal_cell_carcinoma gptkb:endometrial_cancer gptkb:melanoma colorectal cancer
gptkbp:symptom	macrocephaly lipomas mucocutaneous lesions vascular anomalies intestinal polyps
gptkbp:bfsParent	gptkb:10q23.31 gptkb:Bannayan-Riley-Ruvalcaba_syndrome gptkb:Cowden_syndrome
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	PTEN hamartoma tumor syndrome