PTEN hamartoma tumor syndrome

URI: https://gptkb.org/entity/PTEN_hamartoma_tumor_syndrome
GPTKB entity
Statements (35)
Predicate Object
gptkbp:instanceOf genetic disorder
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
https://www.w3.org/2000/01/rdf-schema#label PTEN hamartoma tumor syndrome
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:endometrial_cancer
colorectal cancer
melanoma
renal cell carcinoma
gptkbp:symptom macrocephaly
lipomas
mucocutaneous lesions
vascular anomalies
intestinal polyps
gptkbp:bfsParent gptkb:10q23.3
gptkb:Bannayan–Riley–Ruvalcaba_syndrome
gptkb:10q23.31
gptkb:Bannayan-Riley-Ruvalcaba_syndrome
gptkb:Cowden_syndrome
gptkbp:bfsLayer 6